Variant report

Variant	rs2836982
Chromosome Location	chr21:40689171-40689172
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:37)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:37 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SMARCB1	chr21:40689015-40690576	K562	blood:	n/a	n/a
2	CCNT2	chr21:40689146-40689764	K562	blood:	n/a	n/a
3	USF2	chr21:40689034-40689831	K562	blood:	n/a	n/a
4	SPI1	chr21:40689021-40689791	GM12878	blood:	n/a	n/a
5	CEBPB	chr21:40689125-40689869	MCF-7	breast:	n/a	n/a
6	FOS	chr21:40688948-40689200	MCF10A-Er-Src	breast:	n/a	n/a
7	SPI1	chr21:40689169-40689850	HL-60	blood:	n/a	n/a
8	FOXA1	chr21:40689051-40689589	T-47D	breast:	n/a	n/a
9	POLR2A	chr21:40688821-40689902	K562	blood:	n/a	n/a
10	SIN3AK20	chr21:40688907-40690039	MCF-7	breast:	n/a	n/a
11	MYC	chr21:40689023-40689937	K562	blood:	n/a	n/a
12	EP300	chr21:40689080-40689766	MCF-7	breast:	n/a	n/a
13	GATA3	chr21:40689028-40689910	MCF-7	breast:	n/a	n/a
14	MAX	chr21:40689089-40690070	MCF-7	breast:	n/a	n/a
15	GATA3	chr21:40689092-40689653	MCF-7	breast:	n/a	n/a
16	UBTF	chr21:40689091-40689868	K562	blood:	n/a	n/a
17	CUX1	chr21:40689100-40690060	K562	blood:	n/a	n/a
18	POLR2A	chr21:40688736-40691506	Raji	blood:	n/a	n/a
19	RCOR1	chr21:40689055-40689737	K562	blood:	n/a	n/a
20	JUND	chr21:40688880-40689900	K562	blood:	n/a	n/a
21	HCFC1	chr21:40689119-40689842	K562	blood:	n/a	n/a
22	GATA3	chr21:40689096-40689717	T-47D	breast:	n/a	n/a
23	GATA3	chr21:40689096-40689719	T-47D	breast:	n/a	n/a
24	GATA3	chr21:40689151-40689615	MCF-7	breast:	n/a	n/a
25	IRF1	chr21:40689074-40689881	K562	blood:	n/a	n/a
26	NR2F2	chr21:40689070-40689827	MCF-7	breast:	n/a	n/a
27	MAFK	chr21:40688994-40689858	K562	blood:	n/a	n/a
28	RCOR1	chr21:40689166-40689951	K562	blood:	n/a	n/a
29	BHLHE40	chr21:40689081-40689880	K562	blood:	n/a	n/a
30	GATA3	chr21:40688915-40689842	MCF-7	breast:	n/a	n/a
31	KAP1	chr21:40688969-40689994	HEK293	kidney:	n/a	n/a
32	TEAD4	chr21:40688942-40690558	K562	blood:	n/a	n/a
33	FOXA1	chr21:40689055-40689595	T-47D	breast:	n/a	n/a
34	HDAC2	chr21:40689089-40689955	MCF-7	breast:	n/a	n/a
35	KAP1	chr21:40689143-40689717	U2OS	brain:	n/a	n/a
36	HDAC2	chr21:40689114-40689814	MCF-7	breast:	n/a	n/a
37	EP300	chr21:40689106-40689733	T-47D	breast:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	21:40687235-40690033..21:40757151-40764378	K562	blood:
2	chr21:40683319..40690926-chr21:40755872..40762716,23	MCF-7	breast:
3	chr21:40681596..40696529-chr21:40715399..40724266,46	K562	blood:
4	chr21:40555201..40557033-chr21:40687768..40689494,2	K562	blood:
5	chr21:40581217..40582784-chr21:40687990..40689879,2	K562	blood:
6	chr21:40683271..40692626-chr21:40743960..40754349,22	MCF-7	breast:
7	chr21:40684466..40689800-chr21:40758261..40763098,10	K562	blood:
8	chr21:40687654..40692063-chr21:40815994..40821163,6	MCF-7	breast:
9	chr21:40682856..40693378-chr21:40754350..40765471,56	MCF-7	breast:
10	chr21:40684332..40690368-chr21:40756970..40764337,16	K562	blood:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-WRB-2	chr21:40688971-40689880	XLOC_013942

No data

Variant related genes	Relation type
BRWD1	TF binding region
BRWD1-IT2	TF binding region
ENSG00000272991	Chromatin interaction
ENSG00000157578	Chromatin interaction
ENSG00000252915	Chromatin interaction
ENSG00000183527	Chromatin interaction
ENSG00000185437	Chromatin interaction
ENSG00000205581	Chromatin interaction
ENSG00000227406	Chromatin interaction
ENSG00000238556	Chromatin interaction
ENSG00000182093	Chromatin interaction

Extended variants
information (count: 166 )
Associated
traits (count: 18 )

rSNPs within LD-proxies of this variant (count:160)

rs_ID	r²[population]
rs1011413	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10154217	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1041439	0.94[CHB][hapmap]
rs11088471	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11088472	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11702268	0.88[CHB][hapmap]
rs11910705	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11910906	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11910971	0.94[CHB][hapmap]
rs11911822	0.96[CEU][hapmap];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12151994	0.85[AFR][1000 genomes]
rs12482181	0.92[ASW][hapmap];0.85[YRI][hapmap]
rs12626405	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13051430	0.94[CHB][hapmap]
rs13625	0.92[ASW][hapmap];0.85[YRI][hapmap]
rs14194	0.92[ASW][hapmap];0.85[YRI][hapmap]
rs1541100	0.94[CHB][hapmap];0.81[ASN][1000 genomes]
rs1541101	0.89[CHB][hapmap]
rs1541102	0.92[ASW][hapmap];0.85[YRI][hapmap]
rs1882779	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1888487	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1888488	1.00[ASW][hapmap];0.96[CEU][hapmap];0.89[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];0.94[MEX][hapmap];0.88[MKK][hapmap];0.95[TSI][hapmap];0.93[YRI][hapmap];0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1963676	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1984022	0.85[YRI][hapmap]
rs1984748	0.94[CHB][hapmap];0.83[ASN][1000 genomes]
rs2005933	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2026265	0.85[YRI][hapmap]
rs2026266	0.94[CHB][hapmap]
rs2026267	0.83[MEX][hapmap]
rs2037925	1.00[ASW][hapmap];0.96[CEU][hapmap];0.89[CHB][hapmap];0.83[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2070867	0.89[CHB][hapmap]
rs2142111	0.92[CEU][hapmap];0.87[JPT][hapmap];0.85[YRI][hapmap];0.80[AMR][1000 genomes]
rs2142117	0.94[CHB][hapmap];0.83[ASN][1000 genomes]
rs2150410	0.94[CHB][hapmap]
rs2150412	0.92[CHB][hapmap]
rs2150413	0.92[ASW][hapmap];0.89[YRI][hapmap]
rs2150414	0.92[ASW][hapmap];0.89[YRI][hapmap]
rs2150415	0.92[ASW][hapmap];0.83[YRI][hapmap]
rs2183573	0.92[CEU][hapmap];0.93[GIH][hapmap];0.81[JPT][hapmap];0.90[TSI][hapmap];0.86[AMR][1000 genomes]
rs2183575	0.94[CHB][hapmap]
rs2183576	0.94[CHB][hapmap]
rs2234543	0.92[ASW][hapmap];0.85[YRI][hapmap]
rs2236437	0.89[CHB][hapmap]
rs2245455	1.00[ASW][hapmap];0.92[CEU][hapmap];0.90[GIH][hapmap];0.82[JPT][hapmap];0.90[LWK][hapmap];0.82[MEX][hapmap];0.86[TSI][hapmap];0.81[YRI][hapmap];0.80[AMR][1000 genomes]
rs2272576	0.83[CHB][hapmap]
rs2272577	0.83[CHB][hapmap]
rs2410104	0.94[CHB][hapmap]
rs2410121	0.81[ASN][1000 genomes]
rs2410123	1.00[ASW][hapmap];0.96[CEU][hapmap];0.89[CHB][hapmap];0.84[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.80[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2410124	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2735306	0.88[MEX][hapmap]
rs2735310	0.83[CHB][hapmap]
rs2776307	0.83[MEX][hapmap]
rs2836925	0.92[ASW][hapmap];0.85[YRI][hapmap]
rs2836929	0.92[ASW][hapmap];0.85[YRI][hapmap]
rs2836932	0.92[ASW][hapmap];0.85[YRI][hapmap]
rs2836933	0.85[YRI][hapmap]
rs2836956	0.92[ASW][hapmap];0.89[YRI][hapmap]
rs2836957	0.85[YRI][hapmap]
rs2836958	0.92[ASW][hapmap];0.89[YRI][hapmap]
rs2836964	0.92[ASW][hapmap];0.85[YRI][hapmap]
rs2836965	0.92[ASW][hapmap];0.85[YRI][hapmap]
rs2836967	0.85[YRI][hapmap]
rs2836968	0.92[ASW][hapmap];0.85[YRI][hapmap]
rs2836969	0.92[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2836971	1.00[CHB][hapmap];0.91[JPT][hapmap];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2836974	0.92[ASW][hapmap];0.85[YRI][hapmap]
rs2836975	0.96[CEU][hapmap];0.94[CHB][hapmap];0.95[CHD][hapmap];0.93[GIH][hapmap];0.91[JPT][hapmap];0.94[MEX][hapmap];0.95[TSI][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2836981	1.00[ASW][hapmap];1.00[CEU][hapmap];0.89[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2836985	0.92[ASW][hapmap]
rs2836986	1.00[CEU][hapmap];0.89[YRI][hapmap];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2836987	1.00[ASW][hapmap];1.00[CEU][hapmap];0.89[CHB][hapmap];0.82[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.80[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];0.98[TSI][hapmap];0.88[YRI][hapmap];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2836988	1.00[ASW][hapmap];0.96[CEU][hapmap];0.89[CHB][hapmap];0.84[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34240248	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34436313	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35182074	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35909862	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs371625	0.85[AMR][1000 genomes]
rs377098	0.92[CEU][hapmap];0.87[JPT][hapmap];0.85[AMR][1000 genomes]
rs414850	0.80[AMR][1000 genomes]
rs418298	0.92[CEU][hapmap];0.82[CHD][hapmap];0.91[GIH][hapmap];0.87[JPT][hapmap];0.84[MEX][hapmap];0.93[TSI][hapmap];0.85[AMR][1000 genomes]
rs418359	0.92[CEU][hapmap];0.82[CHD][hapmap];0.91[GIH][hapmap];0.87[JPT][hapmap];0.84[MEX][hapmap];0.93[TSI][hapmap];0.85[AMR][1000 genomes]
rs419469	0.85[ASW][hapmap];0.92[CEU][hapmap];0.91[GIH][hapmap];0.87[JPT][hapmap];0.84[MEX][hapmap];0.93[TSI][hapmap];0.84[AMR][1000 genomes]
rs428602	0.92[CEU][hapmap];0.87[JPT][hapmap];0.89[YRI][hapmap];0.82[AMR][1000 genomes]
rs429955	0.83[AMR][1000 genomes]
rs442972	0.85[AMR][1000 genomes]
rs452377	0.85[AMR][1000 genomes]
rs4624474	1.00[ASW][hapmap];0.96[CEU][hapmap];0.89[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];0.98[TSI][hapmap];0.93[YRI][hapmap];0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4816619	0.94[CHB][hapmap]
rs4816620	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4817999	0.80[AMR][1000 genomes]
rs4818005	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4818007	0.94[CHB][hapmap]
rs4818011	0.94[CHB][hapmap];0.81[ASN][1000 genomes]
rs4818014	0.83[ASN][1000 genomes]
rs4818015	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.93[GIH][hapmap];0.91[JPT][hapmap];0.94[MEX][hapmap];0.95[TSI][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4818017	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61300849	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6517519	0.92[ASW][hapmap];0.85[YRI][hapmap]
rs6517523	0.92[ASW][hapmap];0.85[YRI][hapmap]
rs6517526	0.92[ASW][hapmap];0.85[YRI][hapmap]
rs6517528	0.89[CHB][hapmap]
rs6517529	0.94[CHB][hapmap]
rs6517531	0.94[CHB][hapmap];0.81[ASN][1000 genomes]
rs6517532	0.94[CHB][hapmap];0.81[ASN][1000 genomes]
rs6517535	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6517536	0.81[ASN][1000 genomes]
rs6517537	0.81[ASN][1000 genomes]
rs6517538	0.92[ASW][hapmap];0.85[YRI][hapmap]
rs6517539	0.83[ASN][1000 genomes]
rs6517541	0.83[CHB][hapmap]
rs718225	0.94[CHB][hapmap];0.81[ASN][1000 genomes]
rs719230	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs726046	0.89[CHB][hapmap]
rs7275773	0.94[CHB][hapmap];0.81[ASN][1000 genomes]
rs7276559	0.83[ASN][1000 genomes]
rs7276698	0.83[ASN][1000 genomes]
rs7276774	0.91[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7278297	0.89[YRI][hapmap]
rs7278985	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7279558	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7280326	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7280375	0.92[ASW][hapmap];0.85[YRI][hapmap]
rs7281853	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7282604	0.92[CEU][hapmap];0.82[CHD][hapmap];0.91[GIH][hapmap];0.87[JPT][hapmap];0.84[MEX][hapmap];0.93[TSI][hapmap];0.85[AMR][1000 genomes]
rs7282724	0.83[ASN][1000 genomes]
rs7283439	0.94[CHB][hapmap];0.81[ASN][1000 genomes]
rs7283516	0.92[YRI][hapmap];0.85[AFR][1000 genomes]
rs7283652	0.83[ASN][1000 genomes]
rs8127087	0.85[YRI][hapmap]
rs8127391	0.94[CHB][hapmap];0.81[ASN][1000 genomes]
rs8127986	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8128026	0.87[YRI][hapmap]
rs8128102	0.81[YRI][hapmap]
rs8128118	0.93[CHB][hapmap]
rs8130099	0.84[ASN][1000 genomes]
rs8130774	0.83[ASN][1000 genomes]
rs8130795	0.83[AMR][1000 genomes]
rs8130854	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8130984	0.88[YRI][hapmap]
rs8131091	0.81[ASN][1000 genomes]
rs8131150	0.94[CHB][hapmap];0.84[ASN][1000 genomes]
rs8131263	0.94[CHB][hapmap]
rs8131307	0.83[ASN][1000 genomes]
rs8132230	0.94[CHB][hapmap]
rs8132285	0.85[YRI][hapmap]
rs9636957	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs971229	0.81[ASN][1000 genomes]
rs973521	0.94[CHB][hapmap];0.81[ASN][1000 genomes]
rs997147	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9974757	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9975119	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9975562	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9977762	0.82[ASN][1000 genomes]
rs9978591	0.94[CHB][hapmap]
rs9978775	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9978953	0.81[ASN][1000 genomes]
rs9979483	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9981301	1.00[CEU][hapmap];0.89[CHB][hapmap];0.95[JPT][hapmap];0.92[YRI][hapmap];0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9982111	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv459259	chr21:40571246-40701169	Weak transcription Flanking Active TSS Strong transcription Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv587480	chr21:40571246-40701169	Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv913744	chr21:40670167-40757973	Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Weak transcription Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
4	nsv1059420	chr21:40684295-40745952	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
5	nsv587482	chr21:40684427-40706594	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
6	nsv587483	chr21:40686327-40718161	Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

mRNA abundance (count:18)

SNP	Gene	Cis/trans	Tissue	Source
rs2836982	PSMG1	cis	Artery Tibial	GTEx
rs2836982	PSMG1	cis	Skin Sun Exposed Lower leg	GTEx
rs2836982	BRWD1	cis	Frontal Cortex	GTEx
rs2836982	BRWD1	cis	Cerebellum	GTEx
rs2836982	DSCR2	cis	lesional skin	skin_eQTL
rs2836982	PSMG1	cis	Esophagus Mucosa	GTEx
rs2836982	BRWD1	cis	Brain Pons	GTEx
rs2836982	BRWD1	Cis_1M	lymphoblastoid	RTeQTL
rs2836982	BRWD1	cis	cerebellum	SCAN
rs2836982	PSMG1	cis	lung	GTEx
rs2836982	PSMG1	cis	parietal	SCAN
rs2836982	PSMG1	cis	lymphoblastoid	seeQTL
rs2836982	BRWD1	cis	Lymphoblastoid	GTEx
rs2836982	BRWD1	cis	parietal	SCAN
rs2836982	BRWD1	cis	lymphoblastoid	seeQTL
rs2836982	BRWD1	cis	Temporal Cortex	GTEx
rs2836982	C21orf107	cis	multi-tissue	Pritchard
rs2836982	DSCR2	cis	normal skin	skin_eQTL

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40686600-40691400	Enhancers	Primary B cells from peripheral blood	blood
2	chr21:40686800-40689200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
3	chr21:40686800-40689200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr21:40686800-40689200	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr21:40686800-40689400	Weak transcription	Gastric	stomach
6	chr21:40686800-40689400	Weak transcription	Left Ventricle	heart
7	chr21:40686800-40689600	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr21:40686800-40689800	Enhancers	NHEK	skin
9	chr21:40686800-40690600	Weak transcription	Psoas Muscle	Psoas
10	chr21:40686800-40691200	Weak transcription	Right Ventricle	heart
11	chr21:40686800-40691800	Weak transcription	Right Atrium	heart
12	chr21:40686800-40692200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr21:40687000-40689200	Weak transcription	Duodenum Mucosa	Duodenum
14	chr21:40687000-40689200	Enhancers	K562	blood
15	chr21:40687000-40689600	Weak transcription	Primary B cells from cord blood	blood
16	chr21:40687000-40689600	Weak transcription	Fetal Lung	lung
17	chr21:40687000-40689800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr21:40687000-40689800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr21:40687000-40689800	Enhancers	HMEC	breast
20	chr21:40687000-40690400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr21:40687000-40690600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr21:40687000-40690600	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr21:40687000-40690800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr21:40687000-40691000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr21:40687000-40691000	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr21:40687000-40691000	Weak transcription	Adipose Nuclei	Adipose
27	chr21:40687000-40691000	Weak transcription	Colon Smooth Muscle	Colon
28	chr21:40687000-40691000	Weak transcription	Hela-S3	cervix
29	chr21:40687000-40691000	Weak transcription	NHLF	lung
30	chr21:40687000-40691200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr21:40687000-40691200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr21:40687000-40691200	Weak transcription	Pancreas	Pancrea
33	chr21:40687000-40691200	Weak transcription	NHDF-Ad	bronchial
34	chr21:40687000-40691200	Weak transcription	Osteobl	bone
35	chr21:40687000-40691800	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr21:40687000-40691800	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr21:40687000-40692000	Weak transcription	Rectal Smooth Muscle	rectum
38	chr21:40687000-40693400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr21:40687200-40689200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr21:40687200-40690200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr21:40687200-40690200	Weak transcription	Stomach Smooth Muscle	stomach
42	chr21:40687200-40690800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr21:40687200-40690800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr21:40687200-40690800	Weak transcription	Fetal Muscle Leg	muscle
45	chr21:40687200-40691200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr21:40687200-40691800	Weak transcription	Fetal Stomach	stomach
47	chr21:40687400-40690600	Weak transcription	Fetal Muscle Trunk	muscle
48	chr21:40687600-40693000	Enhancers	Fetal Heart	heart
49	chr21:40687800-40689600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr21:40687800-40689600	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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