Variant report

Variant	rs4713337
Chromosome Location	chr6:30529475-30529476
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	POLR2A	chr6:30528596-30529667	PFSK-1	brain:	n/a	n/a
2	POLR2A	chr6:30529071-30529991	GM12891	blood:	n/a	n/a
3	POLR2A	chr6:30528766-30529893	PFSK-1	brain:	n/a	n/a
4	POLR2A	chr6:30529123-30529826	GM12891	blood:	n/a	n/a
5	POLR2A	chr6:30529345-30529512	MCF10A-Er-Src	breast:	n/a	n/a
6	POLR2A	chr6:30528672-30529516	SK-N-SH	brain:	n/a	n/a
7	POLR2A	chr6:30528637-30529591	PANC-1	pancreas:	n/a	n/a
8	POLR2A	chr6:30529130-30531355	K562	blood:	n/a	n/a
9	POLR2A	chr6:30529063-30529909	K562	blood:	n/a	n/a
10	POLR2A	chr6:30529080-30529510	K562	blood:	n/a	n/a
11	POLR2A	chr6:30528828-30530093	HepG2	liver:	n/a	n/a
12	POLR2A	chr6:30528939-30529675	HepG2	liver:	n/a	n/a
13	POLR2A	chr6:30528616-30532626	SK-N-MC	brain:	n/a	n/a
14	POLR2A	chr6:30528704-30532497	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:30461955..30465538-chr6:30528030..30531365,3	K562	blood:

Variant related genes	Relation type
GNL1	TF binding region

Extended variants
information (count: 12 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs3132607	0.84[ASN][1000 genomes]
rs58871430	0.89[ASN][1000 genomes]
rs61109058	0.84[ASN][1000 genomes]
rs61733218	0.87[ASN][1000 genomes]
rs6919835	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025667	chr6:30292845-30638066	Flanking Active TSS Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	825 gene(s)	inside rSNPs	diseases
2	esv3519970	chr6:30382942-31378788	Genic enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
3	esv3519971	chr6:30382942-31378788	Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
4	nsv601481	chr6:30422632-31284253	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1012 gene(s)	inside rSNPs	diseases
5	esv3430377	chr6:30443802-30814426	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	967 gene(s)	inside rSNPs	diseases
6	nsv884086	chr6:30462084-30672757	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	798 gene(s)	inside rSNPs	diseases
7	nsv884091	chr6:30526026-30590646	Transcr. at gene 5' and 3' Weak transcription Genic enhancers Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	776 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4713337	DDR1	cis	lymphoblastoid	seeQTL

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30525600-30529600	Weak transcription	Gastric	stomach
2	chr6:30525800-30529600	Weak transcription	Colonic Mucosa	Colon
3	chr6:30525800-30529600	Weak transcription	Ovary	ovary
4	chr6:30525800-30529800	Weak transcription	Aorta	Aorta
5	chr6:30526000-30529600	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr6:30526000-30529800	Weak transcription	Esophagus	oesophagus
7	chr6:30526000-30530200	Weak transcription	Pancreas	Pancrea
8	chr6:30526000-30530200	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr6:30526000-30530800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr6:30526000-30537800	Weak transcription	Small Intestine	intestine
11	chr6:30526000-30538400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr6:30526000-30538600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr6:30526200-30529600	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr6:30526200-30529600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr6:30526200-30529600	Weak transcription	Psoas Muscle	Psoas
16	chr6:30526200-30529800	Weak transcription	Brain Angular Gyrus	brain
17	chr6:30526200-30529800	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr6:30526200-30530200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr6:30526200-30530200	Weak transcription	Rectal Smooth Muscle	rectum
20	chr6:30526200-30530200	Weak transcription	HSMMtube	muscle
21	chr6:30526200-30530200	Weak transcription	NHEK	skin
22	chr6:30526200-30530600	Weak transcription	Fetal Kidney	kidney
23	chr6:30526200-30538200	Weak transcription	Primary neutrophils fromperipheralblood	blood
24	chr6:30526400-30529600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr6:30526400-30529600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr6:30526400-30529600	Weak transcription	Fetal Intestine Small	intestine
27	chr6:30526400-30529600	Weak transcription	Thymus	Thymus
28	chr6:30526400-30529600	Weak transcription	Spleen	Spleen
29	chr6:30526400-30529800	Weak transcription	Primary T cells fromperipheralblood	blood
30	chr6:30526400-30529800	Weak transcription	Brain Substantia Nigra	brain
31	chr6:30526400-30530000	Weak transcription	Primary hematopoietic stem cells	blood
32	chr6:30526400-30531600	Strong transcription	HUES64 Cell Line	embryonic stem cell
33	chr6:30526400-30532200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr6:30526400-30538000	Weak transcription	HUVEC	blood vessel
35	chr6:30526400-30538000	Weak transcription	NHDF-Ad	bronchial
36	chr6:30526600-30529600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr6:30526600-30529600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr6:30526600-30529600	Weak transcription	Brain Cingulate Gyrus	brain
39	chr6:30526600-30529600	Weak transcription	Colon Smooth Muscle	Colon
40	chr6:30526600-30529600	Weak transcription	Fetal Intestine Large	intestine
41	chr6:30526600-30529600	Weak transcription	Fetal Stomach	stomach
42	chr6:30526600-30529800	Weak transcription	HMEC	breast
43	chr6:30526600-30530200	Weak transcription	Primary B cells from peripheral blood	blood
44	chr6:30526600-30530200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr6:30526600-30536000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
46	chr6:30526600-30537800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
47	chr6:30526800-30529600	Weak transcription	HepG2	liver
48	chr6:30526800-30529800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
49	chr6:30526800-30530000	Weak transcription	Hela-S3	cervix
50	chr6:30526800-30537600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links