Variant report

Variant	rs369639778
Chromosome Location	chr7:70596232-70596233
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	TAF1	chr7:70596184-70596935	H1-hESC	embryonic stem cell:	n/a	n/a
2	BACH1	chr7:70596126-70596870	H1-hESC	embryonic stem cell:	n/a	n/a
3	TEAD4	chr7:70596204-70596464	H1-hESC	embryonic stem cell:	n/a	n/a
4	SP1	chr7:70596017-70596381	H1-hESC	embryonic stem cell:	n/a	n/a
5	SIN3A	chr7:70596174-70598834	H1-hESC	embryonic stem cell:	n/a	n/a
6	TAF7	chr7:70596063-70597144	H1-hESC	embryonic stem cell:	n/a	n/a
7	JUND	chr7:70596027-70596983	H1-hESC	embryonic stem cell:	n/a	chr7:70596110-70596124 chr7:70596272-70596286
8	POLR2A	chr7:70596203-70596987	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr7:70596152-70596574	SK-N-MC	brain:	n/a	n/a
10	GABPA	chr7:70596151-70596426	H1-hESC	embryonic stem cell:	n/a	n/a
11	E2F6	chr7:70596113-70596585	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr7:70596212-70597318	H1-neurons	neurons:	n/a	n/a
13	RAD21	chr7:70596104-70596850	H1-hESC	embryonic stem cell:	n/a	chr7:70596787-70596801
14	CTBP2	chr7:70596159-70597435	H1-hESC	embryonic stem cell:	n/a	n/a
15	RAD21	chr7:70596040-70597454	H1-hESC	embryonic stem cell:	n/a	chr7:70596787-70596801
16	MAX	chr7:70596150-70597151	H1-hESC	embryonic stem cell:	n/a	chr7:70596476-70596486
17	TBP	chr7:70596181-70597040	H1-hESC	embryonic stem cell:	n/a	n/a
18	TAF1	chr7:70596108-70597087	H1-hESC	embryonic stem cell:	n/a	n/a
19	JUND	chr7:70596155-70596372	H1-hESC	embryonic stem cell:	n/a	chr7:70596272-70596286
20	SP1	chr7:70595979-70596552	H1-hESC	embryonic stem cell:	n/a	chr7:70596475-70596487
21	MAX	chr7:70596114-70597192	H1-hESC	embryonic stem cell:	n/a	chr7:70596476-70596486
22	POLR2A	chr7:70596070-70598893	H1-hESC	embryonic stem cell:	n/a	n/a
23	POLR2A	chr7:70596195-70596584	H1-hESC	embryonic stem cell:	n/a	n/a
24	E2F6	chr7:70596160-70597030	H1-hESC	embryonic stem cell:	n/a	chr7:70596767-70596776
25	POLR2A	chr7:70596172-70597347	H1-neurons	neurons:	n/a	n/a
26	REST	chr7:70595904-70597330	H1-neurons	neurons:	n/a	chr7:70596300-70596313 chr7:70596517-70596527 chr7:70596304-70596324
27	TAF1	chr7:70596117-70596722	H1-neurons	neurons:	n/a	n/a
28	EP300	chr7:70596146-70596579	H1-hESC	embryonic stem cell:	n/a	chr7:70596414-70596423 chr7:70596479-70596495 chr7:70596483-70596499

Variant related genes	Relation type
WBSCR17	TF binding region

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 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

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:70595600-70596400	Active TSS	Colonic Mucosa	Colon
2	chr7:70595600-70596400	Enhancers	Fetal Heart	heart
3	chr7:70595800-70596600	Active TSS	H1 Cell Line	embryonic stem cell
4	chr7:70595800-70596800	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr7:70595800-70596800	Active TSS	HUES6 Cell Line	embryonic stem cell
6	chr7:70595800-70597400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr7:70595800-70597400	Active TSS	iPS-15b Cell Line	embryonic stem cell
8	chr7:70595800-70597800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
9	chr7:70595800-70597800	Active TSS	iPS-20b Cell Line	embryonic stem cell
10	chr7:70595800-70598600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr7:70595800-70598800	Active TSS	H9 Cell Line	embryonic stem cell
12	chr7:70595800-70598800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr7:70595800-70599000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr7:70595800-70599400	Active TSS	HUES48 Cell Line	embryonic stem cell
15	chr7:70595800-70599600	Active TSS	Brain Inferior Temporal Lobe	brain
16	chr7:70596000-70596400	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr7:70596000-70596400	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
18	chr7:70596000-70596400	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
19	chr7:70596000-70596400	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
20	chr7:70596000-70596400	Bivalent/Poised TSS	NH-A	brain
21	chr7:70596000-70596600	Flanking Active TSS	Fetal Brain Male	brain
22	chr7:70596000-70596800	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr7:70596000-70596800	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
24	chr7:70596000-70596800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr7:70596000-70596800	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
26	chr7:70596000-70597000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr7:70596000-70597000	Active TSS	Placenta Amnion	Placenta Amnion
28	chr7:70596000-70597200	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
29	chr7:70596000-70597200	Bivalent/Poised TSS	Fetal Intestine Large	intestine
30	chr7:70596000-70597200	Active TSS	Rectal Mucosa Donor 29	rectum
31	chr7:70596000-70597200	Active TSS	Right Ventricle	heart
32	chr7:70596000-70597400	Active TSS	HUES64 Cell Line	embryonic stem cell
33	chr7:70596000-70597400	Active TSS	iPS-18 Cell Line	embryonic stem cell
34	chr7:70596000-70597400	Active TSS	Fetal Lung	lung
35	chr7:70596000-70597600	Active TSS	HSMMtube	muscle
36	chr7:70596000-70598000	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr7:70596000-70598000	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
38	chr7:70596000-70598200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr7:70596000-70598200	Active TSS	Psoas Muscle	Psoas
40	chr7:70596000-70598400	Active TSS	Aorta	Aorta
41	chr7:70596000-70598400	Active TSS	Colon Smooth Muscle	Colon
42	chr7:70596000-70598400	Bivalent/Poised TSS	Fetal Intestine Small	intestine
43	chr7:70596000-70598400	Active TSS	Fetal Kidney	kidney
44	chr7:70596000-70598600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr7:70596000-70598600	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr7:70596000-70598600	Active TSS	Ovary	ovary
47	chr7:70596000-70598600	Active TSS	Right Atrium	heart
48	chr7:70596000-70598800	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
49	chr7:70596000-70598800	Active TSS	Rectal Smooth Muscle	rectum
50	chr7:70596000-70599000	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain

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