Variant report

Variant	rs377007027
Chromosome Location	chr11:85437146-85437147
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	EP300	chr11:85436744-85437512	ECC-1	luminal epithelium:	n/a	n/a
2	PBX3	chr11:85436701-85437437	SK-N-SH	brain:	n/a	n/a
3	STAT3	chr11:85437007-85437309	MCF10A-Er-Src	breast:	n/a	chr11:85437149-85437160
4	JUND	chr11:85436749-85437688	Hela-S3	cervix:	n/a	chr11:85437140-85437151
5	TEAD4	chr11:85436766-85437477	SK-N-SH	brain:	n/a	n/a
6	JUN	chr11:85436900-85437376	Hela-S3	cervix:	n/a	n/a
7	JUND	chr11:85436991-85437297	H1-hESC	embryonic stem cell:	n/a	chr11:85437140-85437151
8	FOSL2	chr11:85436930-85437292	A549	lung:	n/a	n/a
9	POLR2A	chr11:85436473-85437474	HUVEC	blood vessel:	n/a	n/a
10	TCF7L2	chr11:85436962-85437349	HCT-116	colon:	n/a	n/a
11	FOSL2	chr11:85436784-85437492	SK-N-SH	brain:	n/a	n/a
12	JUND	chr11:85436712-85437491	HCT-116	colon:	n/a	chr11:85437140-85437151
13	ELF1	chr11:85436747-85437450	HCT-116	colon:	n/a	n/a
14	TEAD4	chr11:85436830-85437431	ECC-1	luminal epithelium:	n/a	n/a
15	JUN	chr11:85437034-85437282	HepG2	liver:	n/a	n/a
16	NFIC	chr11:85436729-85437436	SK-N-SH	brain:	n/a	n/a
17	GATA2	chr11:85436490-85437800	HUVEC	blood vessel:	n/a	n/a
18	CBX3	chr11:85436418-85437521	HCT-116	colon:	n/a	n/a
19	GABPA	chr11:85436861-85437311	A549	lung:	n/a	n/a
20	JUND	chr11:85436758-85437466	SK-N-SH	brain:	n/a	chr11:85437140-85437151
21	GATA3	chr11:85436572-85438080	SK-N-SH	brain:	n/a	n/a
22	JUN	chr11:85436896-85437418	K562	blood:	n/a	n/a
23	MYC	chr11:85437025-85437324	MCF10A-Er-Src	breast:	n/a	n/a
24	CTCF	chr11:85437000-85437150	HCFaa	heart:	n/a	n/a
25	JUND	chr11:85436989-85437293	HepG2	liver:	n/a	chr11:85437140-85437151
26	SETDB1	chr11:85436767-85437686	U2OS	brain:	n/a	n/a
27	CEBPB	chr11:85436954-85437343	Hela-S3	cervix:	n/a	n/a
28	SP1	chr11:85436639-85437520	HCT-116	colon:	n/a	n/a
29	STAT3	chr11:85436987-85437291	MCF10A-Er-Src	breast:	n/a	chr11:85437149-85437160
30	NFIC	chr11:85436788-85437555	ECC-1	luminal epithelium:	n/a	n/a
31	JUN	chr11:85436996-85437305	K562	blood:	n/a	n/a
32	STAT3	chr11:85436981-85437315	Hela-S3	cervix:	n/a	chr11:85437149-85437160
33	TCF12	chr11:85436733-85437511	SK-N-SH	brain:	n/a	n/a
34	TEAD4	chr11:85436741-85437465	SK-N-SH	brain:	n/a	n/a
35	POLR2A	chr11:85437143-85437219	MCF-7	breast:	n/a	n/a
36	EP300	chr11:85436856-85437330	Hela-S3	cervix:	n/a	n/a
37	MAX	chr11:85436884-85437328	SK-N-SH	brain:	n/a	n/a
38	FOS	chr11:85436964-85437358	MCF10A-Er-Src	breast:	n/a	chr11:85437140-85437151
39	JUND	chr11:85436668-85437452	HCT-116	colon:	n/a	chr11:85437140-85437151
40	SP1	chr11:85436502-85437521	HCT-116	colon:	n/a	n/a
41	CEBPB	chr11:85436811-85437316	HCT-116	colon:	n/a	n/a
42	POLR2A	chr11:85436907-85437354	SK-N-SH	brain:	n/a	n/a
43	STAT3	chr11:85436967-85437305	MCF10A-Er-Src	breast:	n/a	chr11:85437149-85437160
44	GATA3	chr11:85436521-85437542	A549	lung:	n/a	n/a
45	FOSL2	chr11:85436564-85437439	A549	lung:	n/a	n/a
46	JUND	chr11:85436930-85437429	A549	lung:	n/a	chr11:85437140-85437151
47	ELF1	chr11:85436910-85437286	A549	lung:	n/a	n/a
48	STAT3	chr11:85436968-85437304	MCF10A-Er-Src	breast:	n/a	chr11:85437149-85437160
49	ELF1	chr11:85436775-85437453	SK-N-SH	brain:	n/a	n/a
50	TEAD4	chr11:85436899-85437323	ECC-1	luminal epithelium:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:85434348..85438681-chr11:85520824..85523815,4	MCF-7	breast:
2	chr11:85374169..85377247-chr11:85434867..85438072,3	MCF-7	breast:

Variant related genes	Relation type
SYTL2	TF binding region
ENSG00000137504	Chromatin interaction
ENSG00000137501	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:30 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051155	chr11:85006564-85721261	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
2	nsv541110	chr11:85006564-85721261	Enhancers Strong transcription Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
3	esv2758279	chr11:85180480-85603988	Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	esv2759845	chr11:85180480-85603988	Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
5	nsv832222	chr11:85405712-85603981	Enhancers Active TSS Bivalent Enhancer Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv898050	chr11:85406915-85499290	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv1052123	chr11:85425856-85471132	Enhancers Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv555633	chr11:85426330-85473883	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv1036110	chr11:85429074-85471132	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv1054027	chr11:85429074-85477283	Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	esv3471508	chr11:85429687-85472395	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	esv3471519	chr11:85429687-85472395	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
13	nsv555634	chr11:85430397-85464922	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
14	nsv555635	chr11:85430397-85470893	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
15	nsv555636	chr11:85431886-85465179	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
16	nsv1042192	chr11:85433687-85464922	Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
17	nsv1039118	chr11:85433687-85468605	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
18	nsv1039830	chr11:85433687-85470589	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
19	nsv1047001	chr11:85433687-85470941	Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
20	nsv1042942	chr11:85433687-85471132	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
21	nsv1052732	chr11:85434057-85468605	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
22	nsv1048844	chr11:85434057-85470941	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
23	nsv1051644	chr11:85434057-85471132	Genic enhancers Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
24	nsv555637	chr11:85435730-85470893	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
25	nsv555638	chr11:85436303-85458076	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
26	nsv555639	chr11:85436352-85495269	Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
27	nsv1048750	chr11:85436840-85471132	Enhancers Genic enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
28	esv2754674	chr11:85436852-85470852	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
29	esv2757459	chr11:85436868-85473347	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
30	nsv541112	chr11:85436956-85468985	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:85397200-85438600	Weak transcription	Colonic Mucosa	Colon
2	chr11:85412000-85438000	Weak transcription	Primary T helper cells fromperipheralblood	blood
3	chr11:85417600-85453000	Weak transcription	Gastric	stomach
4	chr11:85422600-85448600	Weak transcription	Fetal Intestine Large	intestine
5	chr11:85422800-85448200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr11:85424000-85448600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr11:85430200-85437800	Weak transcription	Duodenum Mucosa	Duodenum
8	chr11:85430400-85437400	Weak transcription	Stomach Mucosa	stomach
9	chr11:85430400-85459000	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr11:85430400-85480400	Weak transcription	Aorta	Aorta
11	chr11:85430600-85437200	Weak transcription	Fetal Kidney	kidney
12	chr11:85430600-85447000	Weak transcription	Ovary	ovary
13	chr11:85430800-85445000	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr11:85430800-85447200	Weak transcription	Fetal Stomach	stomach
15	chr11:85430800-85448800	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr11:85430800-85459000	Weak transcription	Fetal Muscle Trunk	muscle
17	chr11:85431000-85445200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr11:85431400-85451600	Weak transcription	HSMMtube	muscle
19	chr11:85431800-85437600	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr11:85431800-85466600	Weak transcription	Brain Substantia Nigra	brain
21	chr11:85432000-85460800	Weak transcription	Fetal Muscle Leg	muscle
22	chr11:85432200-85448400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr11:85433800-85448600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr11:85434000-85439400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr11:85434200-85439800	Strong transcription	Primary T cells from cord blood	blood
26	chr11:85434600-85445000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr11:85434800-85448200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr11:85435200-85437400	Weak transcription	Primary T cells fromperipheralblood	blood
29	chr11:85435200-85439000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr11:85435400-85437800	Enhancers	NHLF	lung
31	chr11:85435400-85438000	Enhancers	NHDF-Ad	bronchial
32	chr11:85435400-85439000	Strong transcription	Rectal Mucosa Donor 31	rectum
33	chr11:85435400-85448600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr11:85435600-85456400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr11:85436000-85437800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr11:85436000-85438000	Enhancers	Hela-S3	cervix
37	chr11:85436200-85437800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr11:85436200-85437800	Enhancers	NH-A	brain
39	chr11:85436200-85438000	Enhancers	NHEK	skin
40	chr11:85436200-85443600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
41	chr11:85436400-85437600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr11:85436400-85437600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr11:85436400-85437800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr11:85436400-85438400	Enhancers	HMEC	breast
45	chr11:85436600-85437600	Enhancers	Muscle Satellite Cultured Cells	--
46	chr11:85436600-85437600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr11:85436600-85437600	Enhancers	Osteobl	bone
48	chr11:85436600-85437800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr11:85436600-85437800	Enhancers	HSMM	muscle
50	chr11:85436600-85438000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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