Variant report

Variant	rs6742304
Chromosome Location	chr2:231188054-231188055
allele	C/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	MAZ	chr2:231187955-231188294	K562	blood:	n/a	n/a
2	RAD21	chr2:231187857-231188468	SK-N-SH	brain:	n/a	n/a
3	CTCF	chr2:231187960-231188193	A549	lung:	n/a	chr2:231188129-231188142
4	CTCF	chr2:231188000-231188150	HFF-Myc	foreskin:	n/a	chr2:231188129-231188142
5	CTCF	chr2:231188014-231188236	A549	lung:	n/a	chr2:231188129-231188142
6	JUND	chr2:231187951-231188395	K562	blood:	n/a	n/a
7	CHD2	chr2:231188029-231188277	HepG2	liver:	n/a	n/a
8	SMC3	chr2:231187911-231188336	HepG2	liver:	n/a	chr2:231188307-231188314
9	CTCF	chr2:231188018-231188202	SK-N-SH_RA	brain:	n/a	chr2:231188129-231188142
10	CTCF	chr2:231187929-231188259	K562	blood:	n/a	chr2:231188129-231188142
11	MXI1	chr2:231187955-231188357	HepG2	liver:	n/a	n/a
12	CTCF	chr2:231188020-231188170	HAc	cerebellar:	n/a	chr2:231188129-231188142
13	CTCF	chr2:231188020-231188170	GM12865	blood:	n/a	chr2:231188129-231188142
14	CTCF	chr2:231188020-231188170	HCPEpiC	choroid plexus:	n/a	chr2:231188129-231188142
15	ZNF143	chr2:231188036-231188206	H1-hESC	embryonic stem cell:	n/a	n/a
16	POLR2A	chr2:231188022-231188258	HCT-116	colon:	n/a	n/a
17	RAD21	chr2:231187836-231188276	HepG2	liver:	n/a	n/a
18	USF1	chr2:231188049-231188203	SK-N-SH_RA	brain:	n/a	n/a
19	MAX	chr2:231188014-231188311	K562	blood:	n/a	n/a
20	RAD21	chr2:231187923-231188334	HepG2	liver:	n/a	n/a
21	MYBL2	chr2:231187849-231188463	HepG2	liver:	n/a	n/a
22	POLR2A	chr2:231188052-231188254	K562	blood:	n/a	n/a
23	CTCF	chr2:231187960-231188110	HL-60	blood:	n/a	n/a
24	CTCF	chr2:231188000-231188150	WERI-Rb-1	eye:	n/a	chr2:231188129-231188142
25	CTCF	chr2:231187920-231188070	HFF	foreskin:	n/a	n/a
26	FOXP2	chr2:231188033-231188316	PFSK-1	brain:	n/a	n/a
27	CTCF	chr2:231188020-231188170	HepG2	liver:	n/a	chr2:231188129-231188142
28	IRF1	chr2:231188020-231188317	K562	blood:	n/a	chr2:231188134-231188148
29	YY1	chr2:231188013-231188377	GM12892	blood:	n/a	n/a
30	POLR2A	chr2:231187813-231188559	HepG2	liver:	n/a	n/a
31	CTCF	chr2:231187980-231188130	HUVEC	blood vessel:	n/a	n/a
32	CTCF	chr2:231188040-231188190	A549	lung:	n/a	chr2:231188129-231188142
33	CTCF	chr2:231188040-231188190	MCF-7	breast:	n/a	chr2:231188129-231188142
34	CTCF	chr2:231188020-231188170	HBMEC	blood vessel:	n/a	chr2:231188129-231188142
35	YY1	chr2:231187983-231188292	SK-N-SH_RA	brain:	n/a	n/a
36	CTCF	chr2:231188053-231188234	GM19238	blood:	n/a	chr2:231188129-231188142
37	CTCF	chr2:231187940-231188090	GM12870	blood:	n/a	n/a
38	MAX	chr2:231187984-231188448	K562	blood:	n/a	n/a
39	CTCF	chr2:231188000-231188150	GM12864	blood:	n/a	chr2:231188129-231188142
40	CTCF	chr2:231188000-231188150	GM12873	blood:	n/a	chr2:231188129-231188142
41	POLR2A	chr2:231188044-231188478	HepG2	liver:	n/a	n/a
42	CTCF	chr2:231188030-231188210	H1-hESC	embryonic stem cell:	n/a	chr2:231188129-231188142
43	CTCF	chr2:231188020-231188170	HMF	breast:	n/a	chr2:231188129-231188142
44	CTCF	chr2:231188016-231188244	GM12892	blood:	n/a	chr2:231188129-231188142
45	CTCF	chr2:231188020-231188170	HRE	kidney:	n/a	chr2:231188129-231188142
46	CTCF	chr2:231187879-231188510	A549	lung:	n/a	chr2:231188308-231188317 chr2:231188129-231188142 chr2:231188308-231188321
47	CTCF	chr2:231187980-231188130	AG04449	skin:	n/a	n/a
48	POLR2A	chr2:231188045-231188384	GM12878	blood:	n/a	n/a
49	CTCF	chr2:231188022-231188205	Gliobla	brain:	n/a	chr2:231188129-231188142
50	CTCF	chr2:231188020-231188193	A549	lung:	n/a	chr2:231188129-231188142

No.	Distal block	Cell Line	Cell type
1	chr2:231187675..231188630-chr2:231663234..231663815,2	K562	blood:
2	chr2:231187646..231188478-chr2:231276184..231277085,2	HCT-116	colon:
3	chr2:231187795..231189523-chr2:231196681..231199404,2	MCF-7	breast:
4	chr2:231187450..231190323-chr2:231192038..231194221,2	K562	blood:

Variant related genes	Relation type
SP140L	TF binding region

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1004868	1.00[CHB][hapmap]
rs1004869	1.00[CHB][hapmap]
rs10165012	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10170241	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs12694864	1.00[CHB][hapmap]
rs12988385	1.00[CHB][hapmap]
rs13000381	1.00[CHB][hapmap]
rs13010639	1.00[CHB][hapmap]
rs13010998	1.00[CHB][hapmap]
rs13017297	1.00[CHB][hapmap]
rs13025209	1.00[CHB][hapmap]
rs13025520	1.00[CHB][hapmap]
rs13026323	1.00[CHB][hapmap]
rs1427293	1.00[CHB][hapmap]
rs1427294	1.00[CHB][hapmap]
rs1834748	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2114585	1.00[CHB][hapmap]
rs2162478	1.00[CHB][hapmap]
rs2396745	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2396746	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3948464	1.00[CHB][hapmap]
rs6707444	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs6710287	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs933957	1.00[YRI][hapmap]
rs9783992	1.00[CHB][hapmap]
rs9784019	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv498047	chr2:230951712-231250489	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	esv18000	chr2:231072978-231467847	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	esv3417154	chr2:231159789-231258938	Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv3348338	chr2:231160124-231259498	Weak transcription Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv875944	chr2:231162998-231189047	Flanking Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv875945	chr2:231172642-231267925	Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv869708	chr2:231173700-231267616	Genic enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv1004183	chr2:231174420-231258603	ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	esv3486129	chr2:231175581-231265831	Strong transcription Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	esv3486131	chr2:231175581-231265831	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	nsv1013738	chr2:231176856-231258603	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	nsv584667	chr2:231177822-231258450	Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
13	nsv460119	chr2:231178876-231258450	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
14	nsv584668	chr2:231178876-231258450	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS 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	2 gene(s)	inside rSNPs	diseases
15	esv2751844	chr2:231179495-231280495	Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
16	nsv1001929	chr2:231179884-231258603	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
17	nsv1006206	chr2:231179884-231268938	Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
18	nsv584669	chr2:231183321-231258150	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
19	nsv584670	chr2:231183786-231241276	ZNF genes & repeats Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
20	nsv875946	chr2:231184106-231277567	Flanking Active TSS Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
21	esv3374323	chr2:231186424-231244177	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:231184000-231188600	Enhancers	Primary T cells fromperipheralblood	blood
2	chr2:231184000-231188600	Enhancers	Primary T helper cells fromperipheralblood	blood
3	chr2:231184200-231191200	Weak transcription	HMEC	breast
4	chr2:231184800-231191200	Weak transcription	Primary hematopoietic stem cells	blood
5	chr2:231184800-231191400	Weak transcription	Right Atrium	heart
6	chr2:231186200-231189200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
7	chr2:231186400-231190000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr2:231187000-231189800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr2:231187000-231190000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr2:231187000-231191200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr2:231187000-231191400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr2:231187200-231189800	Weak transcription	Primary T cells from cord blood	blood
13	chr2:231187200-231190400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr2:231187400-231188400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
15	chr2:231187400-231189600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr2:231187400-231190200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr2:231187400-231190400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr2:231187600-231188200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr2:231187600-231188200	Active TSS	Hela-S3	cervix
20	chr2:231187600-231188200	ZNF genes & repeats	Osteobl	bone
21	chr2:231187600-231188600	Weak transcription	Primary B cells from peripheral blood	blood
22	chr2:231187600-231188800	Flanking Active TSS	HepG2	liver
23	chr2:231187600-231189400	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr2:231187600-231190000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr2:231187800-231188200	Active TSS	Dnd41	blood
26	chr2:231187800-231188200	Active TSS	Monocytes-CD14+_RO01746	blood
27	chr2:231187800-231188400	Active TSS	A549	lung
28	chr2:231187800-231188600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr2:231187800-231188600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr2:231187800-231188800	ZNF genes & repeats	Placenta	Placenta
31	chr2:231187800-231189600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr2:231187800-231191400	Weak transcription	Thymus	Thymus
33	chr2:231188000-231190000	Weak transcription	Primary B cells from cord blood	blood

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