Variant report

Variant	rs6847623
Chromosome Location	chr4:76480948-76480949
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	RUNX3	chr4:76480865-76481407	GM12878	blood:	n/a	n/a
2	CTCF	chr4:76480840-76480990	HepG2	liver:	n/a	n/a
3	RUNX3	chr4:76480913-76481451	GM12878	blood:	n/a	n/a
4	POU2F2	chr4:76480947-76481427	GM12878	blood:	n/a	chr4:76481202-76481209 chr4:76481199-76481212 chr4:76481194-76481216 chr4:76481201-76481211 chr4:76481198-76481212 chr4:76481389-76481404 chr4:76481200-76481212 chr4:76481201-76481211 chr4:76481201-76481210 chr4:76481198-76481213 chr4:76481200-76481210
5	FOSL2	chr4:76480874-76481424	SK-N-SH	brain:	n/a	chr4:76481232-76481240 chr4:76481228-76481238 chr4:76481229-76481238 chr4:76481228-76481237
6	EP300	chr4:76480936-76481311	SK-N-SH_RA	brain:	n/a	n/a
7	WRNIP1	chr4:76480917-76481214	GM12878	blood:	n/a	n/a
8	CTCF	chr4:76480940-76481090	GM12875	blood:	n/a	n/a
9	PBX3	chr4:76480461-76481350	SK-N-SH	brain:	n/a	n/a
10	CTCF	chr4:76480900-76481050	HCPEpiC	choroid plexus:	n/a	n/a
11	FOS	chr4:76480507-76481451	MCF10A-Er-Src	breast:	n/a	chr4:76481232-76481240 chr4:76481228-76481238 chr4:76481229-76481238 chr4:76481228-76481237
12	EP300	chr4:76480869-76481377	SK-N-SH_RA	brain:	n/a	n/a
13	FOXA2	chr4:76480482-76481027	A549	lung:	n/a	chr4:76480708-76480720
14	GATA3	chr4:76480735-76481512	SK-N-SH	brain:	n/a	chr4:76481023-76481044
15	JUND	chr4:76480811-76481425	HepG2	liver:	n/a	chr4:76481232-76481240 chr4:76481228-76481238 chr4:76481229-76481238 chr4:76481227-76481238 chr4:76481228-76481237
16	CTCF	chr4:76480920-76481070	BJ	skin:	n/a	n/a
17	JUND	chr4:76480445-76481585	SK-N-SH	brain:	n/a	chr4:76481232-76481240 chr4:76481228-76481238 chr4:76481229-76481238 chr4:76481227-76481238 chr4:76481228-76481237
18	GATA3	chr4:76480680-76481504	SK-N-SH	brain:	n/a	chr4:76481023-76481044
19	PBX3	chr4:76480795-76481418	SK-N-SH	brain:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:76480905-76480955	PrEC	prostate:	n/a
2	chr4:76480905-76480955	HEEpiC	esophagus:	n/a
3	chr4:76480905-76480955	SK-N-SH_RA	brain:	n/a
4	chr4:76480905-76480955	A549	lung:	n/a
5	chr4:76480905-76480955	HCPEpiC	choroid plexus:	n/a
6	chr4:76480905-76480955	SK-N-SH	brain:	n/a
7	chr4:76480905-76480955	HRE	kidney:	n/a
8	chr4:76480905-76480955	AG04449	skin:	fetal
9	chr4:76480905-76480955	PFSK-1	brain:	n/a
10	chr4:76480905-76480955	HRPEpiC	eye:	n/a
11	chr4:76480905-76480955	MCF-7	breast:	n/a
12	chr4:76480905-76480955	SAEC	small airway:	n/a
13	chr4:76480905-76480955	MCF10A-Er-Src	breast:	n/a
14	chr4:76480905-76480955	NHBE	bronchial:	n/a
15	chr4:76480905-76480955	AG09309	skin:	n/a
16	chr4:76480905-76480955	CMK	blood:	n/a
17	chr4:76480905-76480955	PANC-1	pancreas:	n/a
18	chr4:76480905-76480955	T-47D	breast:	n/a
19	chr4:76480905-76480955	NH-A	brain:	n/a
20	chr4:76480905-76480955	RPTEC	kidney:	n/a
21	chr4:76480905-76480955	HL-60	blood:	n/a
22	chr4:76480905-76480955	HepG2	liver:	n/a
23	chr4:76480905-76480955	AG09319	gingival:	n/a
24	chr4:76480905-76480955	SKMC	muscle:	n/a
25	chr4:76480905-76480955	AG04450	lung:	fetal
26	chr4:76480905-76480955	GM19239	blood:	n/a
27	chr4:76480905-76480955	HAEpiC	amniotic membrane:	n/a
28	chr4:76480905-76480955	ECC-1	luminal epithelium:	n/a
29	chr4:76480905-76480955	HCT-116	colon:	n/a
30	chr4:76480905-76480955	ovcar-3	ovarian:	n/a
31	chr4:76480905-76480955	NHDF-neo	bronchial:	n/a
32	chr4:76480905-76480955	GM12878	blood:	n/a
33	chr4:76480905-76480955	GM06990	blood:	n/a
34	chr4:76480905-76480955	HUVEC	blood vessel:	n/a
35	chr4:76480905-76480955	HNPCEpiC	eye:	n/a
36	chr4:76480905-76480955	AG10803	skin:	n/a
37	chr4:76480905-76480955	BE2_C	brain:	n/a
38	chr4:76480905-76480955	NB4	blood:	n/a
39	chr4:76480905-76480955	Hepatocyte	liver:	n/a
40	chr4:76480905-76480955	AoSMC	blood vessel:	n/a
41	chr4:76480905-76480955	IMR90	lung:	fetal
42	chr4:76480905-76480955	GM12892	blood:	n/a
43	chr4:76480905-76480955	BJ	skin:	n/a
44	chr4:76480905-76480955	HEK293	kidney:	embryo
45	chr4:76480905-76480955	HPAEpiC	pulmonary alveolar:	n/a
46	chr4:76480905-76480955	NT2-D1	testis:	n/a
47	chr4:76480905-76480955	HIPEpiC	eye:	n/a
48	chr4:76480905-76480955	K562	blood:	n/a
49	chr4:76480905-76480955	HRCEpiC	kidney:	n/a
50	chr4:76480905-76480955	H1-hESC	embryonic stem cell:	embryo

Variant related genes	Relation type
C4orf26	TF binding region
C4orf26	CpG island

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs17000621	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17000639	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs55708633	1.00[ASN][1000 genomes]
rs56806434	1.00[ASN][1000 genomes]
rs58611626	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6856762	1.00[ASN][1000 genomes]
rs6856805	1.00[MEX][hapmap]
rs73825508	1.00[ASN][1000 genomes]
rs73827648	1.00[ASN][1000 genomes]
rs7676544	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7695615	1.00[ASN][1000 genomes]
rs7698555	1.00[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv594687	chr4:76154064-76502748	Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv534570	chr4:76214619-76498362	ZNF genes & repeats Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:76480200-76481400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr4:76480400-76481000	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr4:76480400-76481400	Enhancers	Placenta	Placenta
4	chr4:76480400-76481800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr4:76480400-76481800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr4:76480600-76481000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr4:76480600-76481000	Enhancers	A549	lung
8	chr4:76480600-76481000	Enhancers	HSMM	muscle
9	chr4:76480600-76481200	Active TSS	Rectal Mucosa Donor 29	rectum
10	chr4:76480600-76481200	Enhancers	Osteobl	bone
11	chr4:76480600-76481400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr4:76480600-76481400	Enhancers	K562	blood
13	chr4:76480600-76481600	Enhancers	Primary B cells from peripheral blood	blood
14	chr4:76480600-76481600	Flanking Active TSS	GM12878-XiMat	blood
15	chr4:76480600-76481800	Enhancers	Placenta Amnion	Placenta Amnion
16	chr4:76480600-76482200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr4:76480600-76482400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr4:76480800-76481000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr4:76480800-76481000	Flanking Active TSS	HepG2	liver
20	chr4:76480800-76481000	Enhancers	HSMMtube	muscle
21	chr4:76480800-76481200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr4:76480800-76481200	Active TSS	Duodenum Mucosa	Duodenum
23	chr4:76480800-76481200	Flanking Active TSS	NHEK	skin
24	chr4:76480800-76481400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr4:76480800-76481400	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr4:76480800-76481400	Flanking Active TSS	HMEC	breast
27	chr4:76480800-76481600	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr4:76480800-76481600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
29	chr4:76480800-76481600	Flanking Active TSS	NH-A	brain
30	chr4:76480800-76481800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr4:76480800-76481800	Enhancers	HUES6 Cell Line	embryonic stem cell

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