Variant report

Variant	rs138206824
Chromosome Location	chr7:70596438-70596439
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	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	SIN3A	chr7:70596174-70598834	H1-hESC	embryonic stem cell:	n/a	n/a
5	TAF7	chr7:70596063-70597144	H1-hESC	embryonic stem cell:	n/a	n/a
6	JUND	chr7:70596027-70596983	H1-hESC	embryonic stem cell:	n/a	chr7:70596110-70596124 chr7:70596272-70596286
7	POLR2A	chr7:70596203-70596987	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr7:70596152-70596574	SK-N-MC	brain:	n/a	n/a
9	E2F6	chr7:70596113-70596585	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr7:70596212-70597318	H1-neurons	neurons:	n/a	n/a
11	MYC	chr7:70596294-70596597	H1-hESC	embryonic stem cell:	n/a	chr7:70596476-70596486
12	RAD21	chr7:70596104-70596850	H1-hESC	embryonic stem cell:	n/a	chr7:70596787-70596801
13	CTBP2	chr7:70596159-70597435	H1-hESC	embryonic stem cell:	n/a	n/a
14	RAD21	chr7:70596040-70597454	H1-hESC	embryonic stem cell:	n/a	chr7:70596787-70596801
15	MAX	chr7:70596150-70597151	H1-hESC	embryonic stem cell:	n/a	chr7:70596476-70596486
16	POLR2A	chr7:70596239-70596507	H1-hESC	embryonic stem cell:	n/a	n/a
17	TBP	chr7:70596181-70597040	H1-hESC	embryonic stem cell:	n/a	n/a
18	MXI1	chr7:70596294-70596477	H1-hESC	embryonic stem cell:	n/a	n/a
19	TAF1	chr7:70596108-70597087	H1-hESC	embryonic stem cell:	n/a	n/a
20	CTCF	chr7:70596361-70596716	H1-hESC	embryonic stem cell:	n/a	n/a
21	RAD21	chr7:70596258-70596724	H1-hESC	embryonic stem cell:	n/a	n/a
22	SP1	chr7:70595979-70596552	H1-hESC	embryonic stem cell:	n/a	chr7:70596475-70596487
23	MAX	chr7:70596114-70597192	H1-hESC	embryonic stem cell:	n/a	chr7:70596476-70596486
24	CTCF	chr7:70596374-70596725	H1-hESC	embryonic stem cell:	n/a	n/a
25	POLR2A	chr7:70596070-70598893	H1-hESC	embryonic stem cell:	n/a	n/a
26	POLR2A	chr7:70596195-70596584	H1-hESC	embryonic stem cell:	n/a	n/a
27	RAD21	chr7:70596392-70596650	HepG2	liver:	n/a	n/a
28	E2F6	chr7:70596160-70597030	H1-hESC	embryonic stem cell:	n/a	chr7:70596767-70596776
29	POLR2A	chr7:70596172-70597347	H1-neurons	neurons:	n/a	n/a
30	REST	chr7:70595904-70597330	H1-neurons	neurons:	n/a	chr7:70596300-70596313 chr7:70596517-70596527 chr7:70596304-70596324
31	TAF1	chr7:70596117-70596722	H1-neurons	neurons:	n/a	n/a
32	NRF1	chr7:70596402-70596574	H1-hESC	embryonic stem cell:	n/a	chr7:70596493-70596507 chr7:70596490-70596504
33	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:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:70595800-70596600	Active TSS	H1 Cell Line	embryonic stem cell
2	chr7:70595800-70596800	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr7:70595800-70596800	Active TSS	HUES6 Cell Line	embryonic stem cell
4	chr7:70595800-70597400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr7:70595800-70597400	Active TSS	iPS-15b Cell Line	embryonic stem cell
6	chr7:70595800-70597800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
7	chr7:70595800-70597800	Active TSS	iPS-20b Cell Line	embryonic stem cell
8	chr7:70595800-70598600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr7:70595800-70598800	Active TSS	H9 Cell Line	embryonic stem cell
10	chr7:70595800-70598800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr7:70595800-70599000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr7:70595800-70599400	Active TSS	HUES48 Cell Line	embryonic stem cell
13	chr7:70595800-70599600	Active TSS	Brain Inferior Temporal Lobe	brain
14	chr7:70596000-70596600	Flanking Active TSS	Fetal Brain Male	brain
15	chr7:70596000-70596800	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr7:70596000-70596800	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
17	chr7:70596000-70596800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr7:70596000-70596800	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
19	chr7:70596000-70597000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr7:70596000-70597000	Active TSS	Placenta Amnion	Placenta Amnion
21	chr7:70596000-70597200	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
22	chr7:70596000-70597200	Bivalent/Poised TSS	Fetal Intestine Large	intestine
23	chr7:70596000-70597200	Active TSS	Rectal Mucosa Donor 29	rectum
24	chr7:70596000-70597200	Active TSS	Right Ventricle	heart
25	chr7:70596000-70597400	Active TSS	HUES64 Cell Line	embryonic stem cell
26	chr7:70596000-70597400	Active TSS	iPS-18 Cell Line	embryonic stem cell
27	chr7:70596000-70597400	Active TSS	Fetal Lung	lung
28	chr7:70596000-70597600	Active TSS	HSMMtube	muscle
29	chr7:70596000-70598000	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr7:70596000-70598000	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
31	chr7:70596000-70598200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr7:70596000-70598200	Active TSS	Psoas Muscle	Psoas
33	chr7:70596000-70598400	Active TSS	Aorta	Aorta
34	chr7:70596000-70598400	Active TSS	Colon Smooth Muscle	Colon
35	chr7:70596000-70598400	Bivalent/Poised TSS	Fetal Intestine Small	intestine
36	chr7:70596000-70598400	Active TSS	Fetal Kidney	kidney
37	chr7:70596000-70598600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr7:70596000-70598600	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr7:70596000-70598600	Active TSS	Ovary	ovary
40	chr7:70596000-70598600	Active TSS	Right Atrium	heart
41	chr7:70596000-70598800	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
42	chr7:70596000-70598800	Active TSS	Rectal Smooth Muscle	rectum
43	chr7:70596000-70599000	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
44	chr7:70596000-70599200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr7:70596000-70599200	Active TSS	Left Ventricle	heart
46	chr7:70596000-70599400	Active TSS	Brain Anterior Caudate	brain
47	chr7:70596000-70599600	Active TSS	Brain Angular Gyrus	brain
48	chr7:70596200-70596600	Bivalent Enhancer	Placenta	Placenta
49	chr7:70596200-70596800	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr7:70596200-70596800	Active TSS	A549	lung

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