Variant report

Variant	rs73775907
Chromosome Location	chr6:131386916-131386917
allele	C/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	JUND	chr6:131386315-131386960	HepG2	liver:	n/a	chr6:131386778-131386790 chr6:131386781-131386788 chr6:131386780-131386788 chr6:131386780-131386789 chr6:131386778-131386789 chr6:131386779-131386789
2	MAFK	chr6:131386605-131386971	K562	blood:	n/a	chr6:131386783-131386794 chr6:131386782-131386796 chr6:131386779-131386794 chr6:131386781-131386790 chr6:131386783-131386794
3	MAFK	chr6:131386320-131386974	HepG2	liver:	n/a	chr6:131386783-131386794 chr6:131386782-131386796 chr6:131386779-131386794 chr6:131386781-131386790 chr6:131386783-131386794
4	MAFF	chr6:131386600-131386963	K562	blood:	n/a	chr6:131386778-131386796
5	FOS	chr6:131386593-131386957	MCF10A-Er-Src	breast:	n/a	chr6:131386778-131386790 chr6:131386781-131386788 chr6:131386780-131386788 chr6:131386780-131386789 chr6:131386779-131386789
6	ARID3A	chr6:131386184-131387227	HepG2	liver:	n/a	n/a
7	JUN	chr6:131386628-131386932	HepG2	liver:	n/a	chr6:131386778-131386790 chr6:131386781-131386788 chr6:131386780-131386788 chr6:131386780-131386789 chr6:131386779-131386789
8	JUND	chr6:131386653-131386920	K562	blood:	n/a	chr6:131386778-131386790 chr6:131386781-131386788 chr6:131386780-131386788 chr6:131386780-131386789 chr6:131386778-131386789 chr6:131386779-131386789
9	JUND	chr6:131386593-131386957	Hela-S3	cervix:	n/a	chr6:131386778-131386790 chr6:131386781-131386788 chr6:131386780-131386788 chr6:131386780-131386789 chr6:131386778-131386789 chr6:131386779-131386789
10	MAFK	chr6:131386549-131386961	Hela-S3	cervix:	n/a	chr6:131386783-131386794 chr6:131386782-131386796 chr6:131386779-131386794 chr6:131386781-131386790 chr6:131386783-131386794
11	MAFF	chr6:131386267-131386980	HepG2	liver:	n/a	chr6:131386778-131386796
12	MAFK	chr6:131386601-131386965	IMR90	lung:	n/a	chr6:131386783-131386794 chr6:131386782-131386796 chr6:131386779-131386794 chr6:131386781-131386790 chr6:131386783-131386794
13	FOS	chr6:131386740-131386917	MCF10A-Er-Src	breast:	n/a	chr6:131386778-131386790 chr6:131386781-131386788 chr6:131386780-131386788 chr6:131386780-131386789 chr6:131386779-131386789
14	MAFK	chr6:131386403-131386987	HepG2	liver:	n/a	chr6:131386783-131386794 chr6:131386782-131386796 chr6:131386779-131386794 chr6:131386781-131386790 chr6:131386783-131386794
15	CTCF	chr6:131386840-131386990	HepG2	liver:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:131386869-131386919	T-47D	breast:	n/a
2	chr6:131386869-131386919	Hela-S3	cervix:	n/a
3	chr6:131386869-131386919	PANC-1	pancreas:	n/a
4	chr6:131386869-131386919	BE2_C	brain:	n/a
5	chr6:131386869-131386919	H1-hESC	embryonic stem cell:	embryo
6	chr6:131386869-131386919	HepG2	liver:	n/a
7	chr6:131386869-131386919	SKMC	muscle:	n/a
8	chr6:131386869-131386919	AG04449	skin:	fetal
9	chr6:131386869-131386919	K562	blood:	n/a
10	chr6:131386869-131386919	HL-60	blood:	n/a
11	chr6:131386869-131386919	HCT-116	colon:	n/a
12	chr6:131386869-131386919	GM19239	blood:	n/a
13	chr6:131386869-131386919	MCF10A-Er-Src	breast:	n/a
14	chr6:131386869-131386919	HNPCEpiC	eye:	n/a
15	chr6:131386869-131386919	HMEC	breast:	n/a
16	chr6:131386869-131386919	AoSMC	blood vessel:	n/a
17	chr6:131386869-131386919	HEK293	kidney:	embryo
18	chr6:131386869-131386919	SK-N-MC	brain:	n/a
19	chr6:131386869-131386919	HRE	kidney:	n/a
20	chr6:131386869-131386919	HPAEpiC	pulmonary alveolar:	n/a
21	chr6:131386869-131386919	NHDF-neo	bronchial:	n/a
22	chr6:131386869-131386919	AG09309	skin:	n/a
23	chr6:131386869-131386919	HEEpiC	esophagus:	n/a
24	chr6:131386869-131386919	GM12891	blood:	n/a
25	chr6:131386869-131386919	HUVEC	blood vessel:	n/a
26	chr6:131386869-131386919	HCPEpiC	choroid plexus:	n/a
27	chr6:131386869-131386919	IMR90	lung:	fetal
28	chr6:131386869-131386919	HRCEpiC	kidney:	n/a
29	chr6:131386869-131386919	ovcar-3	ovarian:	n/a
30	chr6:131386869-131386919	ProgFib	skin:	n/a
31	chr6:131386869-131386919	MCF-7	breast:	n/a
32	chr6:131386869-131386919	A549	lung:	n/a
33	chr6:131386869-131386919	Jurkat	blood:	n/a
34	chr6:131386869-131386919	Caco-2	colon:	n/a
35	chr6:131386869-131386919	BJ	skin:	n/a
36	chr6:131386869-131386919	GM12878	blood:	n/a
37	chr6:131386869-131386919	U87	brain:	n/a
38	chr6:131386869-131386919	HAEpiC	amniotic membrane:	n/a
39	chr6:131386869-131386919	NB4	blood:	n/a
40	chr6:131386869-131386919	GM06990	blood:	n/a
41	chr6:131386869-131386919	HIPEpiC	eye:	n/a
42	chr6:131386869-131386919	NH-A	brain:	n/a
43	chr6:131386869-131386919	Hepatocyte	liver:	n/a
44	chr6:131386869-131386919	ECC-1	luminal epithelium:	n/a
45	chr6:131386869-131386919	NT2-D1	testis:	n/a
46	chr6:131386869-131386919	NHBE	bronchial:	n/a
47	chr6:131386869-131386919	AG04450	lung:	fetal
48	chr6:131386869-131386919	CMK	blood:	n/a
49	chr6:131386869-131386919	PFSK-1	brain:	n/a
50	chr6:131386869-131386919	HCM	heart:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:131380112..131382721-chr6:131384592..131387517,3	K562	blood:

Variant related genes	Relation type
EPB41L2	TF binding region
EPB41L2	CpG island

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10499180	1.00[ASN][1000 genomes]
rs11968011	1.00[ASN][1000 genomes]
rs1406456	1.00[ASN][1000 genomes]
rs1528863	1.00[ASN][1000 genomes]
rs17060018	1.00[ASN][1000 genomes]
rs1977577	1.00[ASN][1000 genomes]
rs2151070	1.00[ASN][1000 genomes]
rs55677017	1.00[ASN][1000 genomes]
rs55741945	1.00[ASN][1000 genomes]
rs55812292	1.00[ASN][1000 genomes]
rs55909138	1.00[ASN][1000 genomes]
rs56009627	1.00[ASN][1000 genomes]
rs56059620	1.00[ASN][1000 genomes]
rs56091933	1.00[ASN][1000 genomes]
rs57155718	1.00[ASN][1000 genomes]
rs58822839	1.00[ASN][1000 genomes]
rs60446197	1.00[ASN][1000 genomes]
rs60773361	1.00[ASN][1000 genomes]
rs60836114	1.00[ASN][1000 genomes]
rs6908393	1.00[ASN][1000 genomes]
rs73621523	1.00[ASN][1000 genomes]
rs73621528	1.00[ASN][1000 genomes]
rs73621566	1.00[ASN][1000 genomes]
rs73621574	1.00[ASN][1000 genomes]
rs73621588	1.00[ASN][1000 genomes]
rs73623380	1.00[ASN][1000 genomes]
rs73623396	1.00[ASN][1000 genomes]
rs73623492	1.00[ASN][1000 genomes]
rs73625103	1.00[ASN][1000 genomes]
rs73625624	1.00[ASN][1000 genomes]
rs73774338	1.00[ASN][1000 genomes]
rs73774368	1.00[ASN][1000 genomes]
rs73774374	1.00[ASN][1000 genomes]
rs73774376	1.00[ASN][1000 genomes]
rs73774379	1.00[ASN][1000 genomes]
rs73775910	0.87[ASN][1000 genomes]
rs73775913	0.87[ASN][1000 genomes]
rs7741112	1.00[ASN][1000 genomes]
rs7761647	1.00[ASN][1000 genomes]
rs7766938	1.00[ASN][1000 genomes]
rs871628	1.00[ASN][1000 genomes]

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	nsv1032955	chr6:131298803-131818502	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv538443	chr6:131298803-131818502	Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:131385000-131389000	Weak transcription	Fetal Brain Male	brain
2	chr6:131385200-131387200	Enhancers	Stomach Mucosa	stomach
3	chr6:131385200-131387400	Enhancers	Fetal Intestine Small	intestine
4	chr6:131385200-131387600	Enhancers	Fetal Intestine Large	intestine
5	chr6:131385200-131389800	Weak transcription	Aorta	Aorta
6	chr6:131385400-131387400	Enhancers	Duodenum Mucosa	Duodenum
7	chr6:131385400-131387400	Enhancers	Rectal Mucosa Donor 31	rectum
8	chr6:131385400-131388600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr6:131386000-131387200	Enhancers	A549	lung
10	chr6:131386000-131387400	Enhancers	Hela-S3	cervix
11	chr6:131386000-131387400	Flanking Active TSS	HepG2	liver
12	chr6:131386200-131387600	Enhancers	HSMM	muscle
13	chr6:131386400-131387000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr6:131386400-131387000	Enhancers	HMEC	breast
15	chr6:131386400-131387200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr6:131386400-131387200	Enhancers	NHEK	skin
17	chr6:131386400-131387600	Enhancers	Colonic Mucosa	Colon
18	chr6:131386400-131387600	Enhancers	Fetal Muscle Leg	muscle
19	chr6:131386400-131387600	Enhancers	HSMMtube	muscle
20	chr6:131386600-131387000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr6:131386600-131387000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr6:131386600-131387400	Enhancers	Small Intestine	intestine
23	chr6:131386600-131387600	Enhancers	Rectal Mucosa Donor 29	rectum
24	chr6:131386800-131387200	Enhancers	K562	blood

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