Variant report

Variant	rs2273881
Chromosome Location	chr1:185126044-185126045
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TAF1	chr1:185125345-185126772	K562	blood:	n/a	n/a
2	GABPA	chr1:185125979-185126559	HL-60	blood:	n/a	chr1:185126231-185126240
3	CEBPB	chr1:185125939-185126325	K562	blood:	n/a	n/a
4	POLR2A	chr1:185125059-185127295	HepG2	liver:	n/a	n/a
5	SP1	chr1:185125669-185126951	A549	lung:	n/a	chr1:185126230-185126242 chr1:185126357-185126366 chr1:185126564-185126573 chr1:185126499-185126512 chr1:185126357-185126366 chr1:185126356-185126365 chr1:185126562-185126574 chr1:185126230-185126242 chr1:185126498-185126507 chr1:185126380-185126392 chr1:185126232-185126241 chr1:185126377-185126391 chr1:185126231-185126241 chr1:185126231-185126241 chr1:185126381-185126390 chr1:185126562-185126574 chr1:185126227-185126241 chr1:185126580-185126590 chr1:185126356-185126366 chr1:185126355-185126367 chr1:185126563-185126572 chr1:185126231-185126240 chr1:185126232-185126241 chr1:185126230-185126241 chr1:185126497-185126506 chr1:185126226-185126239
6	FOXP2	chr1:185125986-185126667	SK-N-MC	brain:	n/a	n/a
7	JUND	chr1:185125360-185126482	A549	lung:	n/a	chr1:185126294-185126302 chr1:185126380-185126389
8	TEAD4	chr1:185124883-185126937	K562	blood:	n/a	n/a
9	ETS1	chr1:185125476-185126949	A549	lung:	n/a	chr1:185126254-185126269 chr1:185126325-185126338 chr1:185126257-185126271 chr1:185126229-185126240 chr1:185126258-185126265
10	GABPA	chr1:185125658-185126904	SK-N-SH	brain:	n/a	chr1:185126231-185126240
11	POLR2A	chr1:185124997-185127327	K562	blood:	n/a	n/a
12	POLR2A	chr1:185125207-185126930	PFSK-1	brain:	n/a	n/a
13	POLR2A	chr1:185123805-185126728	K562	blood:	n/a	n/a
14	YY1	chr1:185125316-185126768	GM12892	blood:	n/a	chr1:185126683-185126697 chr1:185125827-185125839 chr1:185126231-185126240
15	POLR2A	chr1:185125727-185126919	HCT-116	colon:	n/a	n/a
16	ZC3H11A	chr1:185125841-185126112	K562	blood:	n/a	n/a
17	CHD2	chr1:185125880-185126754	H1-hESC	embryonic stem cell:	n/a	chr1:185126357-185126367
18	CBX3	chr1:185124980-185126908	K562	blood:	n/a	n/a
19	SIX5	chr1:185125966-185126620	GM12878	blood:	n/a	chr1:185126325-185126339 chr1:185126329-185126338
20	NFYB	chr1:185125963-185126363	Hela-S3	cervix:	n/a	n/a
21	PML	chr1:185125692-185126331	K562	blood:	n/a	n/a
22	CEBPB	chr1:185125948-185126356	IMR90	lung:	n/a	n/a
23	POLR2A	chr1:185125080-185126876	HepG2	liver:	n/a	n/a
24	MXI1	chr1:185124961-185127085	GM12878	blood:	n/a	n/a
25	POLR2A	chr1:185125644-185126299	GM12892	blood:	n/a	n/a
26	ZNF143	chr1:185125889-185126873	K562	blood:	n/a	chr1:185126327-185126345 chr1:185126329-185126338 chr1:185126331-185126350 chr1:185126432-185126442 chr1:185126207-185126222
27	ELF1	chr1:185125667-185126788	K562	blood:	n/a	chr1:185126683-185126695
28	NFYB	chr1:185125845-185126440	K562	blood:	n/a	n/a
29	RCOR1	chr1:185125373-185126472	K562	blood:	n/a	n/a
30	ZKSCAN1	chr1:185125405-185126765	Hela-S3	cervix:	n/a	n/a
31	POLR2A	chr1:185125523-185126880	Gliobla	brain:	n/a	n/a
32	RFX5	chr1:185124285-185127206	SK-N-SH	brain:	n/a	chr1:185126852-185126860 chr1:185125214-185125231
33	NR2F2	chr1:185125316-185127328	K562	blood:	n/a	n/a
34	TAF1	chr1:185125248-185126804	H1-neurons	neurons:	n/a	n/a
35	SIN3A	chr1:185125940-185127093	GM12878	blood:	n/a	n/a
36	RFX5	chr1:185125776-185126281	H1-hESC	embryonic stem cell:	n/a	n/a
37	MAX	chr1:185125616-185126921	SK-N-SH	brain:	n/a	n/a
38	MAX	chr1:185124992-185126846	K562	blood:	n/a	n/a
39	FOXM1	chr1:185125274-185126415	GM12878	blood:	n/a	n/a
40	SREBP1	chr1:185124548-185127215	GM12878	blood:	n/a	n/a
41	TBP	chr1:185125492-185127067	H1-hESC	embryonic stem cell:	n/a	n/a
42	CTBP2	chr1:185125267-185126600	H1-hESC	embryonic stem cell:	n/a	n/a
43	BCLAF1	chr1:185125237-185126928	GM12878	blood:	n/a	chr1:185126692-185126705 chr1:185126497-185126506 chr1:185126684-185126697
44	MAX	chr1:185125144-185126830	Hela-S3	cervix:	n/a	n/a
45	POLR2A	chr1:185125669-185126924	U87	brain:	n/a	n/a
46	HEY1	chr1:185125767-185127236	K562	blood:	n/a	chr1:185126689-185126704 chr1:185125875-185125890 chr1:185125884-185125899
47	POLR2A	chr1:185125264-185127050	Hela-S3	cervix:	n/a	n/a
48	RELA	chr1:185125030-185126882	GM15510	blood:	n/a	n/a
49	SIX5	chr1:185126004-185126645	K562	blood:	n/a	chr1:185126325-185126339 chr1:185126329-185126338
50	SMARCB1	chr1:185125340-185127228	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:46216148..46216725-chr1:185125354..185126086,2	Hela-S3	cervix:
2	chr1:185014501..185017888-chr1:185123055..185126846,5	MCF-7	breast:
3	chr1:185124480..185126123-chr1:185139685..185141251,2	MCF-7	breast:
4	chr1:185013842..185016800-chr1:185124120..185127493,5	MCF-7	breast:
5	chr1:184722487..184724211-chr1:185123638..185126066,2	MCF-7	breast:
6	chr1:185124219..185126981-chr17:56736223..56737982,2	MCF-7	breast:
7	chr1:185125613..185126402-chr12:49524889..49525842,2	Hela-S3	cervix:
8	chr1:185124700..185128224-chr1:185139265..185140988,3	K562	blood:
9	chr1:185122329..185126145-chr1:185137203..185141899,4	K562	blood:
10	chr1:185124212..185128355-chr1:185283797..185287901,7	K562	blood:
11	chr1:185124982..185126735-chr1:185285285..185287316,2	MCF-7	breast:
12	chr1:185125179..185126143-chr13:21714489..21715039,2	Hela-S3	cervix:
13	chr1:185012738..185017820-chr1:185123187..185127311,9	K562	blood:
14	chr1:185125770..185127987-chr1:185284886..185287172,2	MCF-7	breast:
15	chr1:14075169..14075996-chr1:185125394..185126143,2	Hela-S3	cervix:
16	chr1:184941281..184944338-chr1:185124829..185129491,4	K562	blood:
17	chr1:184941416..184944338-chr1:185125198..185127765,2	K562	blood:
18	chr1:185124975..185127830-chr1:185279297..185282140,2	K562	blood:
19	chr1:185039038..185041599-chr1:185124625..185126477,2	MCF-7	breast:
20	chr1:185124212..185127675-chr1:185284433..185287801,3	K562	blood:
21	chr1:185125282..185126362-chr17:41465757..41466520,3	Hela-S3	cervix:
22	chr1:184723118..184724888-chr1:185124173..185126460,2	MCF-7	breast:
23	chr1:185124896..185128464-chr1:185139300..185142346,3	MCF-7	breast:
24	chr1:185012738..185016714-chr1:185123889..185127545,9	K562	blood:

Variant related genes	Relation type
SWT1	TF binding region
ENSG00000123416	Chromatin interaction
ENSG00000188825	Chromatin interaction
ENSG00000258017	Chromatin interaction
ENSG00000116679	Chromatin interaction
ENSG00000116406	Chromatin interaction
ENSG00000232792	Chromatin interaction
ENSG00000197429	Chromatin interaction
ENSG00000150459	Chromatin interaction
ENSG00000202077	Chromatin interaction
ENSG00000273004	Chromatin interaction
ENSG00000135842	Chromatin interaction
ENSG00000231084	Chromatin interaction
ENSG00000116731	Chromatin interaction
ENSG00000121481	Chromatin interaction

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs1008502	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1046592	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10489581	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10797998	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10911673	0.80[AMR][1000 genomes]
rs10911674	0.80[AFR][1000 genomes];0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs10911676	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10911682	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10911686	0.92[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs12022419	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12023744	0.85[EUR][1000 genomes]
rs12025995	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12026000	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12028809	0.95[EUR][1000 genomes]
rs12030761	0.84[ASN][1000 genomes]
rs12030778	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12030967	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12031837	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12035073	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12035433	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12037466	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12037692	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12038919	0.80[AFR][1000 genomes];0.80[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12039541	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12039657	0.80[AFR][1000 genomes];0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12041374	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12043427	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12043495	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12043561	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12043617	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12044161	0.85[EUR][1000 genomes]
rs12044997	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12045772	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12046095	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12046202	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12046801	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12049293	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12086086	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12401293	0.93[EUR][1000 genomes]
rs12404644	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12408279	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12408500	0.98[EUR][1000 genomes]
rs12409926	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1407554	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1544052	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs16865296	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2378958	0.80[AFR][1000 genomes];0.80[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs3766720	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3766723	0.87[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs3806243	0.98[EUR][1000 genomes]
rs41264588	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs41264590	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56107433	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61125463	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61495015	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72724103	0.90[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs72724108	0.95[EUR][1000 genomes]
rs72739693	0.80[AMR][1000 genomes]
rs72739698	0.80[AMR][1000 genomes]
rs72739699	0.80[AFR][1000 genomes];0.80[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs72741807	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72741808	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72741816	0.98[EUR][1000 genomes]
rs72741817	0.93[EUR][1000 genomes]
rs72741819	0.90[AFR][1000 genomes];0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001323	chr1:184525419-185315876	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
2	nsv535222	chr1:184525419-185315876	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
3	nsv548396	chr1:185038104-185151378	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv521613	chr1:185071831-185171869	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:185124000-185127400	Active TSS	K562	blood
2	chr1:185124200-185127600	Active TSS	HUES64 Cell Line	embryonic stem cell
3	chr1:185124200-185128000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr1:185124400-185127600	Active TSS	Colonic Mucosa	Colon
5	chr1:185124600-185126600	Active TSS	HepG2	liver
6	chr1:185124600-185126800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr1:185124600-185127000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr1:185124600-185127000	Active TSS	Brain Inferior Temporal Lobe	brain
9	chr1:185124600-185127200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr1:185124600-185127400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr1:185124600-185127400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr1:185124600-185127400	Active TSS	iPS-20b Cell Line	embryonic stem cell
13	chr1:185124600-185127400	Active TSS	Fetal Lung	lung
14	chr1:185124600-185127400	Active TSS	A549	lung
15	chr1:185124600-185127600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr1:185124600-185127600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr1:185124600-185127600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr1:185124600-185127600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr1:185124600-185127600	Active TSS	Fetal Intestine Small	intestine
20	chr1:185124600-185127600	Active TSS	NHDF-Ad	bronchial
21	chr1:185124600-185127800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr1:185124600-185127800	Active TSS	GM12878-XiMat	blood
23	chr1:185124600-185127800	Active TSS	NHLF	lung
24	chr1:185124800-185127000	Active TSS	Breast Myoepithelial Primary Cells	Breast
25	chr1:185124800-185127000	Active TSS	Primary B cells from peripheral blood	blood
26	chr1:185124800-185127000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
27	chr1:185124800-185127400	Active TSS	H9 Cell Line	embryonic stem cell
28	chr1:185124800-185127400	Active TSS	HUES6 Cell Line	embryonic stem cell
29	chr1:185124800-185127400	Active TSS	Aorta	Aorta
30	chr1:185124800-185127400	Active TSS	Duodenum Mucosa	Duodenum
31	chr1:185124800-185127400	Active TSS	Fetal Intestine Large	intestine
32	chr1:185124800-185127400	Active TSS	Fetal Stomach	stomach
33	chr1:185124800-185127400	Active TSS	Sigmoid Colon	Sigmoid Colon
34	chr1:185124800-185127400	Active TSS	HSMM	muscle
35	chr1:185124800-185127600	Active TSS	ES-I3 Cell Line	embryonic stem cell
36	chr1:185124800-185127600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr1:185124800-185127600	Active TSS	Colon Smooth Muscle	Colon
38	chr1:185124800-185127600	Active TSS	Psoas Muscle	Psoas
39	chr1:185124800-185127600	Active TSS	Right Ventricle	heart
40	chr1:185125000-185127200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
41	chr1:185125000-185127200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr1:185125000-185127200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
43	chr1:185125000-185127200	Active TSS	Duodenum Smooth Muscle	Duodenum
44	chr1:185125000-185127200	Active TSS	Skeletal Muscle Male	skeletal muscle
45	chr1:185125000-185127200	Active TSS	Stomach Smooth Muscle	stomach
46	chr1:185125000-185127400	Active TSS	H1 Cell Line	embryonic stem cell
47	chr1:185125000-185127400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr1:185125000-185127400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr1:185125000-185127400	Active TSS	Fetal Muscle Trunk	muscle
50	chr1:185125000-185127400	Active TSS	Gastric	stomach

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