Variant report

Variant	rs185811331
Chromosome Location	chr1:215739976-215739977
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	MXI1	chr1:215739872-215741847	IMR90	lung:	n/a	n/a
2	MXI1	chr1:215739867-215742249	SK-N-SH	brain:	n/a	n/a
3	E2F4	chr1:215739863-215740811	MCF10A-Er-Src	breast:	n/a	chr1:215740024-215740033
4	SIN3AK20	chr1:215739914-215741882	MCF-7	breast:	n/a	n/a
5	CHD1	chr1:215739972-215741689	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr1:215739773-215742328	MCF10A-Er-Src	breast:	n/a	n/a
7	POLR2A	chr1:215739856-215742151	Hela-S3	cervix:	n/a	n/a
8	MYC	chr1:215739930-215741778	K562	blood:	n/a	chr1:215740902-215740912
9	FOXA2	chr1:215739913-215740807	HepG2	liver:	n/a	chr1:215740055-215740067 chr1:215740192-215740204
10	CUX1	chr1:215739898-215740212	GM12878	blood:	n/a	n/a
11	GATA3	chr1:215739899-215740902	MCF-7	breast:	n/a	n/a
12	EP300	chr1:215739894-215740898	K562	blood:	n/a	chr1:215740861-215740877
13	NR2F2	chr1:215739864-215740921	MCF-7	breast:	n/a	n/a
14	IRF1	chr1:215739927-215740868	K562	blood:	n/a	chr1:215740487-215740497 chr1:215740518-215740538 chr1:215740200-215740212 chr1:215740177-215740190
15	STAT3	chr1:215739712-215740215	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:215727802..215730014-chr1:215737556..215740283,2	K562	blood:
2	chr1:215739388..215743068-chr1:215745972..215749293,5	MCF-7	breast:

Variant related genes	Relation type
KCTD3	TF binding region
ENSG00000136636	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

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	esv1796390	chr1:215561548-215799074	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv430324	chr1:215649163-216082605	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	esv3411228	chr1:215704606-215742745	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	esv3334079	chr1:215717606-215745691	Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	esv3362620	chr1:215739954-215742502	Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:215730800-215740200	Weak transcription	Pancreas	Pancrea
2	chr1:215732000-215740200	Weak transcription	Stomach Mucosa	stomach
3	chr1:215739000-215740000	Enhancers	Fetal Intestine Large	intestine
4	chr1:215739200-215740000	Enhancers	Fetal Lung	lung
5	chr1:215739200-215740000	Enhancers	Hela-S3	cervix
6	chr1:215739400-215742200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr1:215739600-215740200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr1:215739600-215742000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr1:215739800-215740000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
10	chr1:215739800-215740000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr1:215739800-215740000	Enhancers	Primary T cells from cord blood	blood
12	chr1:215739800-215740000	Enhancers	Primary hematopoietic stem cells	blood
13	chr1:215739800-215740000	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr1:215739800-215740000	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr1:215739800-215740000	Enhancers	Adipose Nuclei	Adipose
16	chr1:215739800-215740000	Enhancers	Brain Angular Gyrus	brain
17	chr1:215739800-215740000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr1:215739800-215740000	Enhancers	Rectal Mucosa Donor 31	rectum
19	chr1:215739800-215740000	Enhancers	Dnd41	blood
20	chr1:215739800-215740000	Flanking Active TSS	HepG2	liver
21	chr1:215739800-215740000	Enhancers	NH-A	brain
22	chr1:215739800-215740200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr1:215739800-215740200	Active TSS	K562	blood
24	chr1:215739800-215740400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr1:215739800-215740400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr1:215739800-215740400	Flanking Active TSS	Duodenum Mucosa	Duodenum
27	chr1:215739800-215740400	Flanking Active TSS	HUVEC	blood vessel
28	chr1:215739800-215740600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr1:215739800-215742000	Active TSS	HUES64 Cell Line	embryonic stem cell
30	chr1:215739800-215742200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr1:215739800-215742200	Active TSS	Osteobl	bone
32	chr1:215739800-215742400	Active TSS	Muscle Satellite Cultured Cells	--
33	chr1:215739800-215742400	Active TSS	Brain Anterior Caudate	brain
34	chr1:215739800-215742600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr1:215739800-215742800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr1:215739800-215743200	Active TSS	A549	lung
37	chr1:215739800-215743200	Active TSS	NHDF-Ad	bronchial
38	chr1:215739800-215743400	Active TSS	HUES48 Cell Line	embryonic stem cell
39	chr1:215739800-215743400	Active TSS	Pancreatic Islets	Pancreatic Islet
40	chr1:215739800-215743600	Active TSS	iPS-20b Cell Line	embryonic stem cell
41	chr1:215739800-215744400	Active TSS	NHLF	lung

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