Variant report

Variant	rs7686769
Chromosome Location	chr4:160150483-160150484
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:50)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:50 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ESR1	chr4:160150383-160150700	T-47D	breast:	n/a	n/a
2	POLR2A	chr4:160150302-160150775	Hela-S3	cervix:	n/a	n/a
3	TEAD4	chr4:160150244-160150784	ECC-1	luminal epithelium:	n/a	n/a
4	MAX	chr4:160150289-160150672	Hela-S3	cervix:	n/a	n/a
5	SP1	chr4:160150232-160150628	H1-hESC	embryonic stem cell:	n/a	n/a
6	ESR1	chr4:160150326-160150711	T-47D	breast:	n/a	n/a
7	GATA3	chr4:160150122-160150796	SK-N-SH	brain:	n/a	n/a
8	POLR2A	chr4:160150228-160150551	MCF10A-Er-Src	breast:	n/a	n/a
9	MAFK	chr4:160150052-160150625	IMR90	lung:	n/a	chr4:160150071-160150088
10	RAD21	chr4:160150262-160150714	IMR90	lung:	n/a	n/a
11	SMC3	chr4:160150351-160150742	Hela-S3	cervix:	n/a	n/a
12	STAT3	chr4:160150376-160150551	MCF10A-Er-Src	breast:	n/a	n/a
13	GATA3	chr4:160150036-160150923	MCF-7	breast:	n/a	n/a
14	GATA3	chr4:160150150-160150809	SK-N-SH	brain:	n/a	n/a
15	RAD21	chr4:160150323-160150671	Hela-S3	cervix:	n/a	n/a
16	RFX5	chr4:160150266-160150763	Hela-S3	cervix:	n/a	n/a
17	NR2F2	chr4:160150232-160150755	MCF-7	breast:	n/a	n/a
18	ESR1	chr4:160150315-160150704	T-47D	breast:	n/a	n/a
19	GATA2	chr4:160150355-160150991	HUVEC	blood vessel:	n/a	n/a
20	FOS	chr4:160150427-160150679	MCF10A-Er-Src	breast:	n/a	n/a
21	RCOR1	chr4:160150451-160150525	HepG2	liver:	n/a	n/a
22	GATA3	chr4:160150332-160150804	MCF-7	breast:	n/a	n/a
23	POLR2A	chr4:160148825-160151345	IMR90	lung:	n/a	n/a
24	POLR2A	chr4:160150260-160150727	Hela-S3	cervix:	n/a	n/a
25	FOXA1	chr4:160150282-160150738	T-47D	breast:	n/a	n/a
26	TBP	chr4:160150234-160150703	Hela-S3	cervix:	n/a	n/a
27	POLR2A	chr4:160150284-160150649	Hela-S3	cervix:	n/a	n/a
28	GATA3	chr4:160150270-160150715	T-47D	breast:	n/a	n/a
29	HDAC2	chr4:160150351-160150673	MCF-7	breast:	n/a	n/a
30	MYC	chr4:160150461-160150685	MCF10A-Er-Src	breast:	n/a	n/a
31	MXI1	chr4:160150347-160150777	Hela-S3	cervix:	n/a	n/a
32	EP300	chr4:160150292-160150613	Hela-S3	cervix:	n/a	n/a
33	TEAD4	chr4:160150196-160150661	HepG2	liver:	n/a	n/a
34	BACH1	chr4:160150350-160150633	H1-hESC	embryonic stem cell:	n/a	n/a
35	POLR2A	chr4:160150384-160150682	H1-hESC	embryonic stem cell:	n/a	n/a
36	POLR2A	chr4:160150276-160150675	Hela-S3	cervix:	n/a	n/a
37	RCOR1	chr4:160150293-160150707	Hela-S3	cervix:	n/a	n/a
38	TEAD4	chr4:160150267-160150655	H1-hESC	embryonic stem cell:	n/a	n/a
39	SP1	chr4:160150242-160150660	H1-hESC	embryonic stem cell:	n/a	n/a
40	GATA3	chr4:160150275-160150714	T-47D	breast:	n/a	n/a
41	TEAD4	chr4:160150180-160150837	ECC-1	luminal epithelium:	n/a	n/a
42	MYC	chr4:160149151-160150683	MCF10A-Er-Src	breast:	n/a	n/a
43	USF2	chr4:160150443-160150618	Hela-S3	cervix:	n/a	n/a
44	EP300	chr4:160150323-160150701	MCF-7	breast:	n/a	n/a
45	GTF2F1	chr4:160150309-160150710	Hela-S3	cervix:	n/a	n/a
46	TEAD4	chr4:160150273-160150723	H1-hESC	embryonic stem cell:	n/a	n/a
47	EP300	chr4:160150267-160150645	H1-hESC	embryonic stem cell:	n/a	n/a
48	MAFK	chr4:160150338-160150698	Hela-S3	cervix:	n/a	n/a
49	FOS	chr4:160150230-160150507	MCF10A-Er-Src	breast:	n/a	n/a
50	CEBPB	chr4:160150254-160150757	Hela-S3	cervix:	n/a	n/a

No data

Variant related genes	Relation type
RAPGEF2	TF binding region

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

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs7673030	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016150	chr4:159995816-160165156	Flanking Active TSS Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA	7 gene(s)	inside rSNPs	diseases
2	nsv830129	chr4:160061694-160270760	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
3	esv1795614	chr4:160142544-160161916	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	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	chr4:160133400-160171600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr4:160134200-160156600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr4:160138000-160156000	Weak transcription	Primary hematopoietic stem cells	blood
4	chr4:160148600-160150600	Enhancers	Rectal Mucosa Donor 31	rectum
5	chr4:160148600-160150800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr4:160148600-160151200	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr4:160148600-160151200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr4:160148600-160152000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr4:160148600-160152000	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr4:160148600-160152200	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr4:160148600-160152200	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr4:160148600-160152400	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr4:160148800-160150800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
14	chr4:160149000-160150600	Active TSS	Brain Angular Gyrus	brain
15	chr4:160149000-160150800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr4:160149000-160150800	Active TSS	Left Ventricle	heart
17	chr4:160149000-160150800	Flanking Active TSS	NH-A	brain
18	chr4:160149000-160152000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr4:160149000-160153000	Active TSS	Right Ventricle	heart
20	chr4:160149200-160150600	Active TSS	Brain Hippocampus Middle	brain
21	chr4:160149200-160151800	Active TSS	Fetal Intestine Large	intestine
22	chr4:160149200-160152000	Active TSS	Hela-S3	cervix
23	chr4:160149400-160152000	Active TSS	Fetal Muscle Leg	muscle
24	chr4:160149400-160152000	Active TSS	Skeletal Muscle Male	skeletal muscle
25	chr4:160149400-160152400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr4:160149400-160152400	Active TSS	Fetal Heart	heart
27	chr4:160149400-160152400	Active TSS	Right Atrium	heart
28	chr4:160149400-160164000	Weak transcription	K562	blood
29	chr4:160149400-160169600	Weak transcription	Pancreas	Pancrea
30	chr4:160149400-160171800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr4:160149400-160172000	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr4:160149400-160173000	Weak transcription	Placenta	Placenta
33	chr4:160149400-160216800	Weak transcription	Small Intestine	intestine
34	chr4:160149600-160150600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr4:160149600-160150600	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr4:160149600-160150600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
37	chr4:160149600-160150600	Enhancers	Osteobl	bone
38	chr4:160149600-160150800	Enhancers	Fetal Kidney	kidney
39	chr4:160149600-160150800	Active TSS	Skeletal Muscle Female	skeletal muscle
40	chr4:160149600-160150800	Enhancers	HepG2	liver
41	chr4:160149600-160151400	Enhancers	Placenta Amnion	Placenta Amnion
42	chr4:160149600-160151600	Enhancers	Fetal Lung	lung
43	chr4:160149600-160171800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr4:160149800-160150600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr4:160149800-160150600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr4:160149800-160150600	Enhancers	Rectal Mucosa Donor 29	rectum
47	chr4:160149800-160150800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr4:160149800-160150800	Active TSS	Duodenum Smooth Muscle	Duodenum
49	chr4:160149800-160150800	Active TSS	Stomach Smooth Muscle	stomach
50	chr4:160149800-160150800	Enhancers	HUVEC	blood vessel

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