Variant report

Variant	rs35361085
Chromosome Location	chr11:65314137-65314138
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	TCF12	chr11:65313570-65314244	ECC-1	luminal epithelium:	n/a	chr11:65313831-65313840
2	TFAP2C	chr11:65313690-65314165	Hela-S3	cervix:	n/a	n/a
3	HNF4G	chr11:65313872-65314241	HepG2	liver:	n/a	chr11:65314122-65314144 chr11:65314056-65314071
4	MTA3	chr11:65313241-65314486	GM12878	blood:	n/a	n/a
5	MAX	chr11:65313723-65314508	NB4	blood:	n/a	chr11:65314256-65314266
6	POLR2A	chr11:65314079-65314141	ProgFib	skin:	n/a	n/a
7	EGR1	chr11:65313955-65314215	GM12878	blood:	n/a	chr11:65314193-65314203 chr11:65314095-65314104 chr11:65314139-65314163 chr11:65314157-65314167
8	GABPA	chr11:65313847-65314157	HepG2	liver:	n/a	n/a
9	CHD2	chr11:65313758-65314399	GM12878	blood:	n/a	chr11:65314192-65314202
10	TCF3	chr11:65313743-65314422	GM12878	blood:	n/a	n/a
11	GABPA	chr11:65313626-65314482	MCF-7	breast:	n/a	chr11:65314194-65314203 chr11:65314158-65314167
12	RUNX3	chr11:65313755-65314473	GM12878	blood:	n/a	n/a
13	ELF1	chr11:65313916-65314224	HepG2	liver:	n/a	n/a
14	HEY1	chr11:65313780-65314239	HepG2	liver:	n/a	chr11:65314196-65314211
15	STAT3	chr11:65313966-65314193	MCF10A-Er-Src	breast:	n/a	n/a
16	MAX	chr11:65313788-65314415	GM12878	blood:	n/a	chr11:65314256-65314266
17	GABPA	chr11:65313859-65314152	GM12878	blood:	n/a	n/a
18	ELF1	chr11:65313774-65314359	K562	blood:	n/a	chr11:65313880-65313892 chr11:65314250-65314262
19	POLR2A	chr11:65313893-65314403	GM19099	blood:	n/a	n/a
20	POLR2A	chr11:65313778-65314520	MCF-7	breast:	n/a	n/a
21	POLR2A	chr11:65313895-65314452	GM18951	blood:	n/a	n/a
22	BHLHE40	chr11:65313809-65314147	GM12878	blood:	n/a	n/a
23	GABPA	chr11:65313726-65314550	K562	blood:	n/a	chr11:65314194-65314203 chr11:65314158-65314167
24	POLR2A	chr11:65313805-65314172	HepG2	liver:	n/a	n/a
25	MAX	chr11:65313390-65314446	K562	blood:	n/a	chr11:65314256-65314266
26	FOXA1	chr11:65313471-65314147	T-47D	breast:	n/a	n/a
27	NR2F2	chr11:65313687-65314392	MCF-7	breast:	n/a	n/a
28	POLR2A	chr11:65313813-65314160	ECC-1	luminal epithelium:	n/a	n/a
29	POLR2A	chr11:65313885-65314424	Raji	blood:	n/a	n/a
30	HNF4A	chr11:65313895-65314281	HepG2	liver:	n/a	chr11:65314122-65314144 chr11:65314056-65314071
31	RCOR1	chr11:65313948-65314403	Hela-S3	cervix:	n/a	n/a
32	ZEB1	chr11:65313669-65314473	GM12878	blood:	n/a	n/a
33	MYC	chr11:65313905-65314219	K562	blood:	n/a	n/a
34	MAX	chr11:65313933-65314325	K562	blood:	n/a	chr11:65314256-65314266
35	TAF1	chr11:65313780-65314166	HepG2	liver:	n/a	n/a
36	POLR2A	chr11:65313933-65314368	GM15510	blood:	n/a	n/a
37	POLR2A	chr11:65313751-65314398	MCF-7	breast:	n/a	n/a
38	USF1	chr11:65313977-65314360	K562	blood:	n/a	chr11:65314192-65314208 chr11:65314247-65314263
39	MXI1	chr11:65313803-65314326	HepG2	liver:	n/a	n/a
40	POLR2A	chr11:65313905-65314155	Hela-S3	cervix:	n/a	n/a
41	CHD2	chr11:65313909-65314391	Hela-S3	cervix:	n/a	chr11:65314192-65314202
42	NFIC	chr11:65313529-65314311	ECC-1	luminal epithelium:	n/a	n/a
43	SP4	chr11:65313933-65314558	H1-hESC	embryonic stem cell:	n/a	chr11:65314190-65314206 chr11:65314192-65314208 chr11:65314192-65314203 chr11:65314234-65314245 chr11:65314154-65314170 chr11:65314255-65314266 chr11:65314156-65314172
44	NR2F2	chr11:65313916-65314216	K562	blood:	n/a	n/a
45	ZBTB7A	chr11:65313756-65314365	K562	blood:	n/a	n/a
46	MAZ	chr11:65313699-65314407	GM12878	blood:	n/a	chr11:65314256-65314266
47	STAT3	chr11:65313987-65314252	MCF10A-Er-Src	breast:	n/a	chr11:65314189-65314201
48	POLR2A	chr11:65313659-65314509	K562	blood:	n/a	n/a
49	ELF1	chr11:65313742-65314438	K562	blood:	n/a	chr11:65313880-65313892 chr11:65314250-65314262
50	ZBTB7A	chr11:65313653-65314280	ECC-1	luminal epithelium:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:65311405..65314216-chr11:65624257..65626834,2	MCF-7	breast:
2	chr11:65312318..65314153-chr11:65727479..65730326,3	MCF-7	breast:
3	chr11:65264480..65266722-chr11:65312839..65315295,3	MCF-7	breast:
4	chr11:65311946..65314284-chr11:65416620..65419973,3	MCF-7	breast:
5	chr11:65313091..65315677-chr11:65380016..65384543,4	K562	blood:
6	chr11:65265253..65270298-chr11:65311800..65316872,7	MCF-7	breast:
7	chr11:65188258..65192947-chr11:65311570..65315780,5	MCF-7	breast:

Variant related genes	Relation type
LTBP3	TF binding region
ENSG00000270117	Chromatin interaction
ENSG00000172732	Chromatin interaction
ENSG00000172757	Chromatin interaction
ENSG00000251562	Chromatin interaction
ENSG00000245532	Chromatin interaction
ENSG00000213445	Chromatin interaction
ENSG00000175467	Chromatin interaction
ENSG00000173327	Chromatin interaction
ENSG00000197136	Chromatin interaction
ENSG00000265874	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs34412377	0.92[EUR][1000 genomes]
rs35111506	0.80[AMR][1000 genomes]
rs36009527	0.95[EUR][1000 genomes]
rs36085849	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897715	chr11:65083491-65427346	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	984 gene(s)	inside rSNPs	diseases
2	nsv897716	chr11:65083491-65481166	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	999 gene(s)	inside rSNPs	diseases
3	esv1829999	chr11:65136686-65343124	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	963 gene(s)	inside rSNPs	diseases
4	nsv897718	chr11:65140209-65577516	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1003 gene(s)	inside rSNPs	diseases
5	nsv541068	chr11:65142779-65331136	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	953 gene(s)	inside rSNPs	diseases
6	nsv541069	chr11:65142779-65368787	Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	965 gene(s)	inside rSNPs	diseases
7	nsv541070	chr11:65142779-65397058	Flanking Active TSS Active TSS Enhancers Genic enhancers Bivalent Enhancer Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	972 gene(s)	inside rSNPs	diseases
8	nsv541071	chr11:65142779-65429352	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Strong transcription 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 miRNA miRNA target site	984 gene(s)	inside rSNPs	diseases
9	nsv897719	chr11:65157094-65335705	Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	949 gene(s)	inside rSNPs	diseases
10	nsv541073	chr11:65171202-65331136	Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	949 gene(s)	inside rSNPs	diseases
11	nsv541074	chr11:65171202-65368787	Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	961 gene(s)	inside rSNPs	diseases
12	nsv541075	chr11:65210592-65331136	Genic enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	620 gene(s)	inside rSNPs	diseases
13	nsv541076	chr11:65210592-65397058	Flanking Active TSS Genic enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	645 gene(s)	inside rSNPs	diseases
14	nsv897720	chr11:65213434-65445950	Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	665 gene(s)	inside rSNPs	diseases
15	nsv897721	chr11:65278461-65422853	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
16	nsv897722	chr11:65278461-65436888	Genic enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	102 gene(s)	inside rSNPs	diseases
17	nsv897723	chr11:65294830-65481166	Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
18	nsv897726	chr11:65300252-65318871	Genic enhancers Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	28 gene(s)	inside rSNPs	diseases
19	nsv897728	chr11:65302893-65318871	Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	28 gene(s)	inside rSNPs	diseases
20	nsv897729	chr11:65302893-65322548	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	30 gene(s)	inside rSNPs	diseases
21	nsv897730	chr11:65302893-65376484	Strong transcription Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
22	nsv897731	chr11:65304592-65318871	Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65307200-65322600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:65308400-65319000	Weak transcription	Small Intestine	intestine
3	chr11:65309000-65318400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr11:65309200-65314400	Weak transcription	Left Ventricle	heart
5	chr11:65309200-65314400	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr11:65309200-65316000	Weak transcription	NH-A	brain
7	chr11:65309200-65316200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr11:65309200-65316200	Weak transcription	HSMMtube	muscle
9	chr11:65309200-65318400	Weak transcription	HUVEC	blood vessel
10	chr11:65309200-65320600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr11:65309200-65320600	Strong transcription	Osteobl	bone
12	chr11:65309200-65322200	Strong transcription	Cortex derived primary cultured neurospheres	brain
13	chr11:65309200-65323000	Weak transcription	Psoas Muscle	Psoas
14	chr11:65309400-65317000	Strong transcription	NHLF	lung
15	chr11:65309400-65319000	Weak transcription	NHDF-Ad	bronchial
16	chr11:65309400-65319400	Weak transcription	HSMM	muscle
17	chr11:65309400-65323000	Weak transcription	Right Atrium	heart
18	chr11:65309800-65322200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr11:65310200-65320400	Strong transcription	Muscle Satellite Cultured Cells	--
20	chr11:65310200-65320800	Strong transcription	Brain Cingulate Gyrus	brain
21	chr11:65310400-65322000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr11:65310600-65314200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr11:65310800-65324000	Weak transcription	Fetal Kidney	kidney
24	chr11:65311000-65317200	Weak transcription	Ovary	ovary
25	chr11:65311200-65316000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr11:65312000-65316000	Weak transcription	Brain Angular Gyrus	brain
27	chr11:65312400-65314400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr11:65312800-65316600	Strong transcription	A549	lung
29	chr11:65313000-65314200	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
30	chr11:65313000-65316400	Enhancers	Primary hematopoietic stem cells	blood
31	chr11:65313000-65320800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr11:65313200-65314400	Enhancers	Primary T cells from cord blood	blood
33	chr11:65313200-65314400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr11:65313200-65317000	Enhancers	Primary B cells from cord blood	blood
35	chr11:65313400-65314200	Enhancers	Fetal Brain Male	brain
36	chr11:65313400-65314200	Active TSS	Rectal Smooth Muscle	rectum
37	chr11:65313400-65314400	Genic enhancers	Brain Dorsolateral Prefrontal Cortex	brain
38	chr11:65313400-65314400	Active TSS	HepG2	liver
39	chr11:65313400-65314600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
40	chr11:65313400-65314600	Flanking Active TSS	GM12878-XiMat	blood
41	chr11:65313400-65314800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr11:65313400-65314800	Enhancers	Placenta Amnion	Placenta Amnion
43	chr11:65313400-65315000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
44	chr11:65313400-65315000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr11:65313400-65315200	Flanking Active TSS	Fetal Thymus	thymus
46	chr11:65313400-65316600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
47	chr11:65313600-65314200	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
48	chr11:65313600-65314200	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr11:65313600-65314200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
50	chr11:65313600-65314200	Active TSS	Liver	Liver

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