Variant report

Variant	rs563475094
Chromosome Location	chr11:66790666-66790667
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	EGR1	chr11:66789553-66790728	MCF-7	breast:	n/a	chr11:66789803-66789816
2	MAX	chr11:66789735-66791655	A549	lung:	n/a	chr11:66790997-66791007
3	POLR2A	chr11:66790614-66790999	A549	lung:	n/a	n/a
4	RCOR1	chr11:66789520-66790678	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr11:66790130-66790672	Hela-S3	cervix:	n/a	n/a
6	MAX	chr11:66789704-66791377	Hela-S3	cervix:	n/a	chr11:66790997-66791007
7	ZBTB7A	chr11:66789748-66791271	ECC-1	luminal epithelium:	n/a	n/a
8	HDAC2	chr11:66789634-66790787	MCF-7	breast:	n/a	n/a
9	TCF12	chr11:66789623-66790698	A549	lung:	n/a	chr11:66789837-66789844 chr11:66789853-66789863
10	NR2F2	chr11:66789574-66790726	MCF-7	breast:	n/a	n/a
11	HA-E2F1	chr11:66790524-66791285	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr11:66790464-66791458	MCF-7	breast:	n/a	n/a
13	SIN3AK20	chr11:66789540-66791922	MCF-7	breast:	n/a	n/a
14	POLR2A	chr11:66790383-66790858	ECC-1	luminal epithelium:	n/a	n/a
15	SP1	chr11:66789584-66790714	HCT-116	colon:	n/a	chr11:66789801-66789815 chr11:66789795-66789809 chr11:66789901-66789910
16	TFAP2A	chr11:66789749-66790915	Hela-S3	cervix:	n/a	chr11:66790835-66790847 chr11:66790565-66790580 chr11:66790533-66790545
17	MAX	chr11:66790326-66791517	A549	lung:	n/a	chr11:66790997-66791007
18	POLR2A	chr11:66789750-66790723	HCT-116	colon:	n/a	n/a
19	ZBTB7A	chr11:66790346-66791032	ECC-1	luminal epithelium:	n/a	n/a
20	SUZ12	chr11:66790239-66792182	NT2-D1	testis:	n/a	n/a
21	POLR2A	chr11:66789717-66791255	Hela-S3	cervix:	n/a	n/a
22	MAX	chr11:66790340-66790883	ECC-1	luminal epithelium:	n/a	n/a
23	MAX	chr11:66790445-66791507	H1-hESC	embryonic stem cell:	n/a	chr11:66790997-66791007
24	MAX	chr11:66789550-66791507	MCF-7	breast:	n/a	chr11:66790997-66791007
25	POLR2A	chr11:66790432-66791306	A549	lung:	n/a	n/a
26	EGR1	chr11:66789096-66790673	HCT-116	colon:	n/a	chr11:66789803-66789816
27	POLR2A	chr11:66789671-66790819	Hela-S3	cervix:	n/a	n/a
28	E2F1	chr11:66790559-66791341	Hela-S3	cervix:	n/a	n/a
29	TFAP2C	chr11:66789638-66790826	Hela-S3	cervix:	n/a	chr11:66790563-66790578 chr11:66790531-66790546
30	POLR2A	chr11:66789997-66790803	Hela-S3	cervix:	n/a	n/a
31	GATA3	chr11:66789622-66790798	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:66786143..66803039-chr11:66815769..66832347,160	MCF-7	breast:
2	chr11:66789062..66792605-chr11:66793092..66798254,6	K562	blood:
3	chr11:66762967..66768319-chr11:66788576..66792799,9	MCF-7	breast:
4	chr11:66622967..66625397-chr11:66790084..66792768,5	MCF-7	breast:
5	chr11:66762811..66772502-chr11:66787021..66797000,34	MCF-7	breast:
6	chr11:66788543..66790931-chr11:67139607..67141552,2	MCF-7	breast:
7	chr11:66786222..66802522-chr11:66819452..66831805,83	MCF-7	breast:
8	chr11:66608006..66612050-chr11:66789663..66791972,5	MCF-7	breast:
9	chr11:66622645..66625708-chr11:66789822..66792440,5	MCF-7	breast:
10	chr11:66790564..66792990-chr17:56707751..56709327,2	MCF-7	breast:
11	chr11:66607553..66610979-chr11:66790122..66792121,3	MCF-7	breast:
12	chr11:66790383..66792489-chr11:67119405..67122102,2	MCF-7	breast:
13	chr11:66772630..66777861-chr11:66788171..66792271,6	MCF-7	breast:
14	chr11:66789739..66792605-chr11:66795396..66798254,2	K562	blood:

Variant related genes	Relation type
SYT12	TF binding region
ENSG00000173653	Chromatin interaction
ENSG00000252709	Chromatin interaction
ENSG00000256514	Chromatin interaction
ENSG00000173227	Chromatin interaction
ENSG00000212195	Chromatin interaction
ENSG00000173621	Chromatin interaction
ENSG00000175505	Chromatin interaction
ENSG00000173156	Chromatin interaction
ENSG00000175482	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv555226	chr11:66579572-66845362	Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv428574	chr11:66619002-66804133	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv832194	chr11:66634462-66805980	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	33 gene(s)	inside rSNPs	diseases
4	nsv531397	chr11:66653381-67465721	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	271 gene(s)	inside rSNPs	diseases
5	esv1817552	chr11:66751014-66839985	Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
6	nsv532287	chr11:66784014-67023899	Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS 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	48 gene(s)	inside rSNPs	diseases
7	esv3405747	chr11:66789601-66792149	Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
8	esv3378723	chr11:66790076-66792024	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66789200-66791200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
2	chr11:66789600-66790800	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
3	chr11:66789600-66791000	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
4	chr11:66789600-66791600	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
5	chr11:66789600-66792800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
6	chr11:66789800-66790800	Flanking Active TSS	NH-A	brain
7	chr11:66789800-66791000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr11:66789800-66791200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
9	chr11:66789800-66791400	Bivalent Enhancer	Fetal Heart	heart
10	chr11:66790000-66790800	Bivalent Enhancer	HUVEC	blood vessel
11	chr11:66790000-66791000	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
12	chr11:66790000-66791000	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr11:66790000-66791000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr11:66790000-66791000	Bivalent Enhancer	Spleen	Spleen
15	chr11:66790000-66791200	Active TSS	Right Ventricle	heart
16	chr11:66790000-66791400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
17	chr11:66790000-66791400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr11:66790000-66791400	Active TSS	Aorta	Aorta
19	chr11:66790000-66793200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
20	chr11:66790200-66790800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr11:66790200-66790800	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
22	chr11:66790200-66791000	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr11:66790200-66791000	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr11:66790200-66791000	Active TSS	Right Atrium	heart
25	chr11:66790200-66791200	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
26	chr11:66790200-66791200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
27	chr11:66790200-66791200	Active TSS	Pancreatic Islets	Pancreatic Islet
28	chr11:66790200-66791400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
29	chr11:66790200-66791400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr11:66790200-66791400	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr11:66790200-66791400	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
32	chr11:66790200-66791400	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
33	chr11:66790200-66791600	Flanking Active TSS	HMEC	breast
34	chr11:66790200-66792200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
35	chr11:66790400-66790800	Bivalent/Poised TSS	Primary T cells from cord blood	blood
36	chr11:66790400-66790800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr11:66790400-66790800	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
38	chr11:66790400-66791000	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
39	chr11:66790400-66791000	Active TSS	Brain Inferior Temporal Lobe	brain
40	chr11:66790400-66791000	Active TSS	Esophagus	oesophagus
41	chr11:66790400-66791000	Active TSS	Left Ventricle	heart
42	chr11:66790400-66791000	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
43	chr11:66790400-66791000	Active TSS	NHLF	lung
44	chr11:66790400-66791200	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
45	chr11:66790400-66791200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
46	chr11:66790400-66791200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
47	chr11:66790400-66791200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr11:66790400-66791200	Bivalent Enhancer	Primary B cells from cord blood	blood
49	chr11:66790400-66791200	Active TSS	Brain Cingulate Gyrus	brain
50	chr11:66790400-66791200	Bivalent/Poised TSS	Colon Smooth Muscle	Colon

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