Variant report

Variant	rs180873453
Chromosome Location	chr7:70597056-70597057
allele	A/C
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	SIN3A	chr7:70596174-70598834	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr7:70596611-70597314	SK-N-MC	brain:	n/a	n/a
3	TAF7	chr7:70596063-70597144	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr7:70596212-70597318	H1-neurons	neurons:	n/a	n/a
5	CTBP2	chr7:70596159-70597435	H1-hESC	embryonic stem cell:	n/a	n/a
6	RAD21	chr7:70596040-70597454	H1-hESC	embryonic stem cell:	n/a	chr7:70596787-70596801
7	MAX	chr7:70596150-70597151	H1-hESC	embryonic stem cell:	n/a	chr7:70596476-70596486
8	POLR2A	chr7:70596800-70597060	H1-hESC	embryonic stem cell:	n/a	n/a
9	CHD1	chr7:70596637-70597085	H1-hESC	embryonic stem cell:	n/a	n/a
10	E2F6	chr7:70596606-70597220	H1-hESC	embryonic stem cell:	n/a	chr7:70597032-70597041 chr7:70597092-70597101 chr7:70596767-70596776
11	TAF1	chr7:70596108-70597087	H1-hESC	embryonic stem cell:	n/a	n/a
12	MAX	chr7:70596114-70597192	H1-hESC	embryonic stem cell:	n/a	chr7:70596476-70596486
13	POLR2A	chr7:70596070-70598893	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr7:70596172-70597347	H1-neurons	neurons:	n/a	n/a
15	REST	chr7:70595904-70597330	H1-neurons	neurons:	n/a	chr7:70596300-70596313 chr7:70596517-70596527 chr7:70596304-70596324

Variant related genes	Relation type
WBSCR17	TF binding region

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	nsv519090	chr7:70085934-71071896	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1034662	chr7:70275712-70722953	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1015261	chr7:70404302-71255933	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
4	esv3406129	chr7:70595641-70598589	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
5	esv3377653	chr7:70596541-70599389	Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers ZNF genes & repeats	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:70595800-70597400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr7:70595800-70597400	Active TSS	iPS-15b Cell Line	embryonic stem cell
3	chr7:70595800-70597800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
4	chr7:70595800-70597800	Active TSS	iPS-20b Cell Line	embryonic stem cell
5	chr7:70595800-70598600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr7:70595800-70598800	Active TSS	H9 Cell Line	embryonic stem cell
7	chr7:70595800-70598800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr7:70595800-70599000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr7:70595800-70599400	Active TSS	HUES48 Cell Line	embryonic stem cell
10	chr7:70595800-70599600	Active TSS	Brain Inferior Temporal Lobe	brain
11	chr7:70596000-70597200	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
12	chr7:70596000-70597200	Bivalent/Poised TSS	Fetal Intestine Large	intestine
13	chr7:70596000-70597200	Active TSS	Rectal Mucosa Donor 29	rectum
14	chr7:70596000-70597200	Active TSS	Right Ventricle	heart
15	chr7:70596000-70597400	Active TSS	HUES64 Cell Line	embryonic stem cell
16	chr7:70596000-70597400	Active TSS	iPS-18 Cell Line	embryonic stem cell
17	chr7:70596000-70597400	Active TSS	Fetal Lung	lung
18	chr7:70596000-70597600	Active TSS	HSMMtube	muscle
19	chr7:70596000-70598000	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr7:70596000-70598000	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
21	chr7:70596000-70598200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr7:70596000-70598200	Active TSS	Psoas Muscle	Psoas
23	chr7:70596000-70598400	Active TSS	Aorta	Aorta
24	chr7:70596000-70598400	Active TSS	Colon Smooth Muscle	Colon
25	chr7:70596000-70598400	Bivalent/Poised TSS	Fetal Intestine Small	intestine
26	chr7:70596000-70598400	Active TSS	Fetal Kidney	kidney
27	chr7:70596000-70598600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr7:70596000-70598600	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr7:70596000-70598600	Active TSS	Ovary	ovary
30	chr7:70596000-70598600	Active TSS	Right Atrium	heart
31	chr7:70596000-70598800	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
32	chr7:70596000-70598800	Active TSS	Rectal Smooth Muscle	rectum
33	chr7:70596000-70599000	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
34	chr7:70596000-70599200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr7:70596000-70599200	Active TSS	Left Ventricle	heart
36	chr7:70596000-70599400	Active TSS	Brain Anterior Caudate	brain
37	chr7:70596000-70599600	Active TSS	Brain Angular Gyrus	brain
38	chr7:70596200-70597200	Bivalent/Poised TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr7:70596200-70597200	Flanking Active TSS	Adipose Nuclei	Adipose
40	chr7:70596200-70597200	Bivalent/Poised TSS	Fetal Thymus	thymus
41	chr7:70596200-70597200	Active TSS	Pancreas	Pancrea
42	chr7:70596200-70597400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr7:70596200-70597400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr7:70596200-70597400	Active TSS	Skeletal Muscle Male	skeletal muscle
45	chr7:70596200-70597400	Active TSS	Skeletal Muscle Female	skeletal muscle
46	chr7:70596200-70597600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr7:70596200-70597800	Active TSS	Gastric	stomach
48	chr7:70596200-70598000	Active TSS	Pancreatic Islets	Pancreatic Islet
49	chr7:70596200-70598200	Enhancers	Liver	Liver
50	chr7:70596200-70598200	Active TSS	Rectal Mucosa Donor 31	rectum

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