Variant report

Variant	rs3740796
Chromosome Location	chr11:34379275-34379276
allele	C/T
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	E2F6	chr11:34378282-34379481	H1-hESC	embryonic stem cell:	n/a	chr11:34379463-34379473 chr11:34379283-34379295
2	MAX	chr11:34378502-34381150	Hela-S3	cervix:	n/a	chr11:34379281-34379291 chr11:34380691-34380706
3	POLR2A	chr11:34379213-34379821	HUVEC	blood vessel:	n/a	n/a
4	POLR2A	chr11:34378249-34380105	MCF-7	breast:	n/a	n/a
5	RFX5	chr11:34379223-34380016	IMR90	lung:	n/a	n/a
6	MAX	chr11:34378259-34380156	H1-hESC	embryonic stem cell:	n/a	chr11:34379281-34379291
7	POLR2A	chr11:34379208-34380319	PFSK-1	brain:	n/a	n/a
8	POLR2A	chr11:34379100-34379746	HepG2	liver:	n/a	n/a
9	MAX	chr11:34379047-34380875	HepG2	liver:	n/a	chr11:34379281-34379291 chr11:34380691-34380706
10	POLR2A	chr11:34379198-34380320	Hela-S3	cervix:	n/a	n/a
11	POLR2A	chr11:34379001-34380096	GM19193	blood:	n/a	n/a
12	RAD21	chr11:34379250-34379688	HepG2	liver:	n/a	chr11:34379311-34379325
13	MAX	chr11:34378455-34379275	SK-N-SH	brain:	n/a	n/a
14	TAF1	chr11:34378443-34379784	HepG2	liver:	n/a	n/a
15	POLR2A	chr11:34378913-34380854	HepG2	liver:	n/a	n/a
16	TFAP2C	chr11:34378124-34380976	Hela-S3	cervix:	n/a	n/a
17	REST	chr11:34379267-34379751	PFSK-1	brain:	n/a	n/a
18	POLR2A	chr11:34378518-34380075	GM18951	blood:	n/a	n/a
19	POLR2A	chr11:34378831-34380846	Hela-S3	cervix:	n/a	n/a
20	MXI1	chr11:34378457-34381133	Hela-S3	cervix:	n/a	n/a
21	POLR2A	chr11:34378523-34380902	Hela-S3	cervix:	n/a	n/a
22	TCF12	chr11:34379084-34381370	A549	lung:	n/a	n/a
23	ZNF263	chr11:34377727-34381033	HEK293-T-REx	kidney:	n/a	chr11:34380107-34380116 chr11:34379476-34379485 chr11:34379232-34379241
24	SIN3AK20	chr11:34379233-34379752	PFSK-1	brain:	n/a	n/a
25	RAD21	chr11:34379074-34381631	HCT-116	colon:	n/a	chr11:34379924-34379936 chr11:34380425-34380437 chr11:34379311-34379325 chr11:34381200-34381219 chr11:34379138-34379151 chr11:34380673-34380685
26	MAX	chr11:34378149-34381135	HepG2	liver:	n/a	chr11:34379281-34379291 chr11:34380691-34380706
27	MAX	chr11:34378400-34380156	H1-hESC	embryonic stem cell:	n/a	chr11:34379281-34379291
28	RAD21	chr11:34379150-34381554	HCT-116	colon:	n/a	chr11:34379924-34379936 chr11:34380425-34380437 chr11:34379311-34379325 chr11:34381200-34381219 chr11:34380673-34380685
29	SRF	chr11:34379174-34379787	MCF-7	breast:	n/a	n/a
30	RAD21	chr11:34378455-34379768	ECC-1	luminal epithelium:	n/a	chr11:34379311-34379325 chr11:34379138-34379151
31	SIN3AK20	chr11:34377833-34381225	MCF-7	breast:	n/a	n/a
32	SIN3A	chr11:34377492-34381220	H1-hESC	embryonic stem cell:	n/a	n/a
33	GATA3	chr11:34379088-34381214	A549	lung:	n/a	n/a
34	TAF1	chr11:34378930-34380329	ECC-1	luminal epithelium:	n/a	n/a
35	HA-E2F1	chr11:34377836-34379621	MCF-7	breast:	n/a	chr11:34379463-34379473 chr11:34379283-34379295
36	PML	chr11:34379183-34379737	GM12878	blood:	n/a	n/a
37	POLR2A	chr11:34379242-34379724	PANC-1	pancreas:	n/a	n/a
38	POLR2A	chr11:34379224-34379808	A549	lung:	n/a	n/a
39	MAX	chr11:34378151-34381117	HepG2	liver:	n/a	chr11:34379281-34379291 chr11:34380691-34380706
40	YY1	chr11:34379261-34379766	ECC-1	luminal epithelium:	n/a	chr11:34379487-34379501 chr11:34379484-34379493 chr11:34379462-34379471 chr11:34379557-34379571
41	SMARCB1	chr11:34378112-34380843	Hela-S3	cervix:	n/a	n/a
42	POLR2A	chr11:34378781-34381125	SK-N-MC	brain:	n/a	n/a
43	ZNF143	chr11:34378815-34381186	Hela-S3	cervix:	n/a	chr11:34380049-34380067 chr11:34379487-34379497 chr11:34379558-34379568 chr11:34379825-34379843
44	CTCF	chr11:34379160-34379310	HRE	kidney:	n/a	n/a
45	CHD2	chr11:34378353-34381317	Hela-S3	cervix:	n/a	n/a
46	RAD21	chr11:34378788-34380266	IMR90	lung:	n/a	chr11:34379924-34379936 chr11:34379311-34379325 chr11:34379138-34379151
47	SMC3	chr11:34378437-34381508	Hela-S3	cervix:	n/a	n/a
48	MAX	chr11:34378238-34380255	SK-N-SH	brain:	n/a	chr11:34379281-34379291
49	POLR2A	chr11:34379263-34379698	PBDE	blood:	n/a	n/a
50	POU2F2	chr11:34379250-34379914	GM12878	blood:	n/a	chr11:34379603-34379610 chr11:34379600-34379613 chr11:34379599-34379613 chr11:34379601-34379611 chr11:34379900-34379912 chr11:34379602-34379611 chr11:34379601-34379613 chr11:34379602-34379612 chr11:34379602-34379612

No.	Distal block	Cell Line	Cell type
1	chr11:34378671..34379417-chr17:56708715..56709403,2	Hela-S3	cervix:
2	chr11:34073205..34075094-chr11:34377742..34380453,3	MCF-7	breast:
3	chr11:34071981..34076766-chr11:34377622..34383038,7	MCF-7	breast:
4	chr11:34126304..34129768-chr11:34376546..34381116,4	MCF-7	breast:
5	chr11:34125543..34130810-chr11:34377372..34382966,13	MCF-7	breast:
6	chr11:34209674..34212372-chr11:34378433..34380265,3	MCF-7	breast:
7	chr11:34379240..34379836-chr3:185655282..185656103,2	Hela-S3	cervix:
8	chr11:34210356..34212606-chr11:34378528..34380428,2	MCF-7	breast:

Variant related genes	Relation type
ABTB2	TF binding region
ENSG00000135387	Chromatin interaction
ENSG00000201867	Chromatin interaction
ENSG00000212195	Chromatin interaction
ENSG00000136527	Chromatin interaction
ENSG00000135372	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	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[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	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[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	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10836197	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[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	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11032628	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11032631	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11032632	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11032634	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11032635	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11032642	0.92[EUR][1000 genomes]
rs11032650	0.83[EUR][1000 genomes]
rs12296013	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12787642	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[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	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1925371	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1925372	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1925374	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[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	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3817990	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[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	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6484711	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7110380	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7124239	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs742634	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7927418	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7927718	0.88[AMR][1000 genomes];0.92[EUR][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	chr11:34376800-34379400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
3	chr11:34376800-34379400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
4	chr11:34376800-34379400	Flanking Active TSS	Stomach Smooth Muscle	stomach
5	chr11:34377000-34380200	Active TSS	HSMMtube	muscle
6	chr11:34377400-34380200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr11:34377400-34380400	Active TSS	NHLF	lung
8	chr11:34377400-34381000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
9	chr11:34377400-34381000	Active TSS	Left Ventricle	heart
10	chr11:34377600-34379400	Flanking Active TSS	Pancreas	Pancrea
11	chr11:34377600-34379400	Flanking Active TSS	HMEC	breast
12	chr11:34377600-34380000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
13	chr11:34377600-34380200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
14	chr11:34377600-34381000	Active TSS	Aorta	Aorta
15	chr11:34377600-34381200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
16	chr11:34377800-34380000	Active TSS	NHDF-Ad	bronchial
17	chr11:34377800-34380200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr11:34378000-34379400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
19	chr11:34378000-34379400	Flanking Active TSS	Adipose Nuclei	Adipose
20	chr11:34378000-34379400	Flanking Active TSS	GM12878-XiMat	blood
21	chr11:34378000-34380200	Active TSS	HSMM	muscle
22	chr11:34378000-34381000	Active TSS	Right Atrium	heart
23	chr11:34378000-34381200	Active TSS	Pancreatic Islets	Pancreatic Islet
24	chr11:34378000-34381200	Active TSS	A549	lung
25	chr11:34378200-34379400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
26	chr11:34378200-34380200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr11:34378200-34380200	Active TSS	Brain Substantia Nigra	brain
28	chr11:34378200-34380200	Active TSS	Osteobl	bone
29	chr11:34378200-34380400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr11:34378200-34380800	Bivalent/Poised TSS	HepG2	liver
31	chr11:34378200-34381000	Active TSS	Rectal Smooth Muscle	rectum
32	chr11:34378200-34381200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
33	chr11:34378200-34381200	Active TSS	Colon Smooth Muscle	Colon
34	chr11:34378200-34381200	Active TSS	Fetal Kidney	kidney
35	chr11:34378400-34379400	Flanking Active TSS	Duodenum Mucosa	Duodenum
36	chr11:34378400-34379400	Flanking Active TSS	Esophagus	oesophagus
37	chr11:34378400-34379400	Active TSS	Fetal Heart	heart
38	chr11:34378400-34379600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
39	chr11:34378400-34380000	Active TSS	Brain Cingulate Gyrus	brain
40	chr11:34378400-34380000	Active TSS	Brain Germinal Matrix	brain
41	chr11:34378400-34380000	Active TSS	NH-A	brain
42	chr11:34378400-34380200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr11:34378400-34380600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
44	chr11:34378400-34380800	Active TSS	Small Intestine	intestine
45	chr11:34378400-34381200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr11:34378600-34379400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr11:34378600-34379600	Flanking Active TSS	Primary B cells from cord blood	blood
48	chr11:34378600-34379600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
49	chr11:34378600-34380000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr11:34378600-34380000	Active TSS	Primary T cells from cord blood	blood

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