Variant report

Variant	rs6484711
Chromosome Location	chr11:34379503-34379504
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	MAX	chr11:34378502-34381150	Hela-S3	cervix:	n/a	chr11:34379281-34379291 chr11:34380691-34380706
2	TAF1	chr11:34379363-34379630	Hela-S3	cervix:	n/a	n/a
3	RFX5	chr11:34379480-34379757	GM12878	blood:	n/a	n/a
4	REST	chr11:34379302-34379644	SK-N-SH	brain:	n/a	n/a
5	POLR2A	chr11:34379213-34379821	HUVEC	blood vessel:	n/a	n/a
6	NFYA	chr11:34379415-34380100	Hela-S3	cervix:	n/a	chr11:34379622-34379635 chr11:34379622-34379640
7	POLR2A	chr11:34378249-34380105	MCF-7	breast:	n/a	n/a
8	POLR2A	chr11:34379354-34379719	GM12878	blood:	n/a	n/a
9	TBP	chr11:34379375-34380905	HepG2	liver:	n/a	n/a
10	RFX5	chr11:34379223-34380016	IMR90	lung:	n/a	n/a
11	CHD2	chr11:34379376-34380014	H1-hESC	embryonic stem cell:	n/a	n/a
12	RAD21	chr11:34379497-34379605	A549	lung:	n/a	n/a
13	POLR2A	chr11:34379302-34379777	SK-N-SH	brain:	n/a	n/a
14	POLR2A	chr11:34379283-34379665	U87	brain:	n/a	n/a
15	TAF1	chr11:34379407-34379688	GM12891	blood:	n/a	n/a
16	MAX	chr11:34378259-34380156	H1-hESC	embryonic stem cell:	n/a	chr11:34379281-34379291
17	NRF1	chr11:34379436-34379714	K562	blood:	n/a	n/a
18	POLR2A	chr11:34379208-34380319	PFSK-1	brain:	n/a	n/a
19	POLR2A	chr11:34379100-34379746	HepG2	liver:	n/a	n/a
20	MAX	chr11:34379047-34380875	HepG2	liver:	n/a	chr11:34379281-34379291 chr11:34380691-34380706
21	POLR2A	chr11:34379294-34380142	GM12891	blood:	n/a	n/a
22	POLR2A	chr11:34379198-34380320	Hela-S3	cervix:	n/a	n/a
23	POLR2A	chr11:34379001-34380096	GM19193	blood:	n/a	n/a
24	RAD21	chr11:34379250-34379688	HepG2	liver:	n/a	chr11:34379311-34379325
25	MAX	chr11:34379312-34381015	K562	blood:	n/a	chr11:34380691-34380706
26	TAF1	chr11:34379328-34379728	H1-hESC	embryonic stem cell:	n/a	n/a
27	FOXA1	chr11:34379334-34379711	HepG2	liver:	n/a	n/a
28	SP1	chr11:34379277-34380323	A549	lung:	n/a	chr11:34379642-34379654 chr11:34379727-34379736 chr11:34379768-34379779 chr11:34379725-34379737 chr11:34379644-34379653 chr11:34379726-34379735 chr11:34379643-34379652 chr11:34379643-34379653 chr11:34379725-34379737 chr11:34379838-34379849 chr11:34380105-34380119 chr11:34379642-34379654 chr11:34379722-34379736 chr11:34379801-34379812
29	POU2F2	chr11:34379354-34379750	GM12878	blood:	n/a	chr11:34379603-34379610 chr11:34379600-34379613 chr11:34379599-34379613 chr11:34379601-34379611 chr11:34379602-34379611 chr11:34379601-34379613 chr11:34379602-34379612 chr11:34379602-34379612
30	STAT5A	chr11:34379322-34379678	GM12878	blood:	n/a	n/a
31	REST	chr11:34379387-34379701	PFSK-1	brain:	n/a	n/a
32	POU2F2	chr11:34379396-34379739	GM12878	blood:	n/a	chr11:34379603-34379610 chr11:34379600-34379613 chr11:34379599-34379613 chr11:34379601-34379611 chr11:34379602-34379611 chr11:34379601-34379613 chr11:34379602-34379612 chr11:34379602-34379612
33	CCNT2	chr11:34379435-34379769	K562	blood:	n/a	n/a
34	TAF1	chr11:34378443-34379784	HepG2	liver:	n/a	n/a
35	POLR2A	chr11:34378913-34380854	HepG2	liver:	n/a	n/a
36	SP1	chr11:34379297-34379963	A549	lung:	n/a	chr11:34379642-34379654 chr11:34379727-34379736 chr11:34379768-34379779 chr11:34379725-34379737 chr11:34379644-34379653 chr11:34379726-34379735 chr11:34379643-34379652 chr11:34379643-34379653 chr11:34379725-34379737 chr11:34379838-34379849 chr11:34379642-34379654 chr11:34379722-34379736 chr11:34379801-34379812
37	TBL1XR1	chr11:34379419-34380410	GM12878	blood:	n/a	n/a
38	CTCF	chr11:34379460-34379610	GM12871	blood:	n/a	n/a
39	PAX5	chr11:34379329-34379747	GM12892	blood:	n/a	n/a
40	POLR2A	chr11:34379299-34379734	HUVEC	blood vessel:	n/a	n/a
41	TFAP2C	chr11:34378124-34380976	Hela-S3	cervix:	n/a	n/a
42	REST	chr11:34379267-34379751	PFSK-1	brain:	n/a	n/a
43	POLR2A	chr11:34378518-34380075	GM18951	blood:	n/a	n/a
44	FOS	chr11:34379466-34379821	GM12878	blood:	n/a	n/a
45	TCF12	chr11:34379340-34379750	GM12878	blood:	n/a	n/a
46	PAX5	chr11:34379323-34379725	GM12878	blood:	n/a	n/a
47	SP1	chr11:34379487-34379876	GM12878	blood:	n/a	chr11:34379642-34379654 chr11:34379727-34379736 chr11:34379768-34379779 chr11:34379725-34379737 chr11:34379644-34379653 chr11:34379726-34379735 chr11:34379643-34379652 chr11:34379643-34379653 chr11:34379725-34379737 chr11:34379838-34379849 chr11:34379642-34379654 chr11:34379722-34379736 chr11:34379801-34379812
48	MYC	chr11:34379442-34379642	MCF10A-Er-Src	breast:	n/a	n/a
49	POLR2A	chr11:34379363-34379659	A549	lung:	n/a	n/a
50	POLR2A	chr11:34378831-34380846	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:34073205..34075094-chr11:34377742..34380453,3	MCF-7	breast:
2	chr11:34071981..34076766-chr11:34377622..34383038,7	MCF-7	breast:
3	chr11:34126304..34129768-chr11:34376546..34381116,4	MCF-7	breast:
4	chr11:34125543..34130810-chr11:34377372..34382966,13	MCF-7	breast:
5	chr11:34209674..34212372-chr11:34378433..34380265,3	MCF-7	breast:
6	chr11:34379240..34379836-chr3:185655282..185656103,2	Hela-S3	cervix:
7	chr11:34210356..34212606-chr11:34378528..34380428,2	MCF-7	breast:

Variant related genes	Relation type
ABTB2	TF binding region
ENSG00000136527	Chromatin interaction
ENSG00000135387	Chromatin interaction
ENSG00000135372	Chromatin interaction
ENSG00000201867	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10742313	0.80[EUR][1000 genomes]
rs10742314	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10768059	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10768060	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10768061	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10768062	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10768063	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10768064	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10768065	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10768066	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10768067	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10768068	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10768069	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10836190	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10836191	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10836194	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10836195	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10836196	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10836197	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11032621	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11032624	0.88[EUR][1000 genomes]
rs11032625	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11032627	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11032628	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11032631	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11032632	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11032634	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11032635	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11032642	0.92[EUR][1000 genomes]
rs11032650	0.83[EUR][1000 genomes]
rs12296013	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12787642	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs1810506	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1810507	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1883736	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1925368	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1925371	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1925372	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1925374	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1977109	0.80[EUR][1000 genomes]
rs2001176	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2092485	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3740795	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3740796	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3817990	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3981191	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3981192	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4140544	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4993520	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6484710	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7110380	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7124239	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs742634	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7927418	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7927718	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs910088	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9651597	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897205	chr11:34248229-34507213	Enhancers Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv897207	chr11:34253683-34621004	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	nsv897208	chr11:34257064-34562247	Strong transcription Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
4	nsv897209	chr11:34309519-34548906	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
5	nsv897210	chr11:34349427-34381075	Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:34376400-34381200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr11:34377000-34380200	Active TSS	HSMMtube	muscle
3	chr11:34377400-34380200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr11:34377400-34380400	Active TSS	NHLF	lung
5	chr11:34377400-34381000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
6	chr11:34377400-34381000	Active TSS	Left Ventricle	heart
7	chr11:34377600-34380000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
8	chr11:34377600-34380200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
9	chr11:34377600-34381000	Active TSS	Aorta	Aorta
10	chr11:34377600-34381200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
11	chr11:34377800-34380000	Active TSS	NHDF-Ad	bronchial
12	chr11:34377800-34380200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr11:34378000-34380200	Active TSS	HSMM	muscle
14	chr11:34378000-34381000	Active TSS	Right Atrium	heart
15	chr11:34378000-34381200	Active TSS	Pancreatic Islets	Pancreatic Islet
16	chr11:34378000-34381200	Active TSS	A549	lung
17	chr11:34378200-34380200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr11:34378200-34380200	Active TSS	Brain Substantia Nigra	brain
19	chr11:34378200-34380200	Active TSS	Osteobl	bone
20	chr11:34378200-34380400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr11:34378200-34380800	Bivalent/Poised TSS	HepG2	liver
22	chr11:34378200-34381000	Active TSS	Rectal Smooth Muscle	rectum
23	chr11:34378200-34381200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
24	chr11:34378200-34381200	Active TSS	Colon Smooth Muscle	Colon
25	chr11:34378200-34381200	Active TSS	Fetal Kidney	kidney
26	chr11:34378400-34379600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
27	chr11:34378400-34380000	Active TSS	Brain Cingulate Gyrus	brain
28	chr11:34378400-34380000	Active TSS	Brain Germinal Matrix	brain
29	chr11:34378400-34380000	Active TSS	NH-A	brain
30	chr11:34378400-34380200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr11:34378400-34380600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
32	chr11:34378400-34380800	Active TSS	Small Intestine	intestine
33	chr11:34378400-34381200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr11:34378600-34379600	Flanking Active TSS	Primary B cells from cord blood	blood
35	chr11:34378600-34379600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
36	chr11:34378600-34380000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr11:34378600-34380000	Active TSS	Primary T cells from cord blood	blood
38	chr11:34378600-34380000	Active TSS	Primary T helper cells PMA-I stimulated	--
39	chr11:34378600-34380200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr11:34378600-34380200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr11:34378600-34380200	Active TSS	Fetal Lung	lung
42	chr11:34378600-34380200	Active TSS	NHEK	skin
43	chr11:34378600-34380400	Active TSS	Brain Hippocampus Middle	brain
44	chr11:34378600-34380400	Active TSS	Brain Inferior Temporal Lobe	brain
45	chr11:34378600-34380400	Active TSS	Gastric	stomach
46	chr11:34378600-34381000	Active TSS	H9 Cell Line	embryonic stem cell
47	chr11:34378600-34381000	Active TSS	Brain Angular Gyrus	brain
48	chr11:34378600-34381000	Active TSS	Ovary	ovary
49	chr11:34378600-34381000	Active TSS	Psoas Muscle	Psoas
50	chr11:34378600-34381200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood

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