Variant report

Variant	rs4521715
Chromosome Location	chr7:50769251-50769252
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:50768451..50771313-chr7:50772394..50775472,4	K562	blood:

Variant related genes	Relation type
ENSG00000106070	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1019000	0.93[CHB][hapmap];0.88[ASN][1000 genomes]
rs1024531	0.88[ASN][1000 genomes]
rs10265504	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11238297	0.82[ASN][1000 genomes]
rs11763072	0.85[CEU][hapmap];1.00[CHB][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11763778	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11765762	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12668316	0.91[ASN][1000 genomes]
rs13311390	0.84[CEU][hapmap];0.86[CHB][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2058014	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2074777	0.93[CHB][hapmap];0.90[ASN][1000 genomes]
rs2108349	0.82[ASN][1000 genomes]
rs2190502	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2214963	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2237490	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2299153	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2329489	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3779072	0.89[AFR][1000 genomes]
rs3801000	0.87[ASN][1000 genomes]
rs4947806	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6943153	0.93[CHB][hapmap];0.92[ASN][1000 genomes]
rs6967612	0.90[ASN][1000 genomes]
rs7793570	0.93[CHB][hapmap];0.89[ASN][1000 genomes]
rs7809623	0.90[ASN][1000 genomes]
rs7809775	0.85[ASN][1000 genomes]
rs933360	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016665	chr7:50452552-51404524	Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv1023228	chr7:50573214-50777634	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv1032882	chr7:50611138-50775257	Genic enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
4	nsv538834	chr7:50611138-50775257	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
5	nsv1031138	chr7:50651793-50814881	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50742600-50792000	Weak transcription	Primary T cells from cord blood	blood
2	chr7:50745800-50769600	Weak transcription	Gastric	stomach
3	chr7:50750000-50778600	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr7:50753800-50770000	Weak transcription	Fetal Muscle Trunk	muscle
5	chr7:50755400-50777000	Weak transcription	Esophagus	oesophagus
6	chr7:50756200-50770000	Weak transcription	NHDF-Ad	bronchial
7	chr7:50756200-50779200	Weak transcription	Osteobl	bone
8	chr7:50756400-50769800	Weak transcription	Primary hematopoietic stem cells	blood
9	chr7:50756400-50769800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr7:50757000-50771400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr7:50757000-50775000	Weak transcription	Psoas Muscle	Psoas
12	chr7:50757400-50771200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr7:50757400-50772600	Weak transcription	Aorta	Aorta
14	chr7:50758800-50771600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr7:50758800-50779400	Weak transcription	Fetal Kidney	kidney
16	chr7:50759200-50769800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr7:50761600-50769600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr7:50761600-50771200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr7:50761600-50771600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr7:50761800-50771200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr7:50762000-50769400	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr7:50762000-50769400	Weak transcription	Placenta	Placenta
23	chr7:50762000-50769600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr7:50762000-50771400	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr7:50762000-50772400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr7:50762200-50772800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr7:50762800-50769800	Weak transcription	Right Ventricle	heart
28	chr7:50763200-50769400	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr7:50763400-50806800	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr7:50764000-50778800	Weak transcription	HSMM	muscle
31	chr7:50765400-50776800	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr7:50765600-50769600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr7:50765600-50770000	Weak transcription	HUVEC	blood vessel
34	chr7:50765600-50771400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr7:50765600-50772400	Weak transcription	Right Atrium	heart
36	chr7:50765800-50769600	Weak transcription	Ovary	ovary
37	chr7:50765800-50769800	Weak transcription	Adipose Nuclei	Adipose
38	chr7:50765800-50769800	Weak transcription	Pancreas	Pancrea
39	chr7:50765800-50769800	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr7:50765800-50770200	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr7:50765800-50773400	Weak transcription	Fetal Intestine Large	intestine
42	chr7:50765800-50776800	Weak transcription	Brain Angular Gyrus	brain
43	chr7:50765800-50776800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr7:50765800-50776800	Weak transcription	Fetal Intestine Small	intestine
45	chr7:50765800-50777000	Weak transcription	Fetal Stomach	stomach
46	chr7:50766200-50769600	Weak transcription	Duodenum Mucosa	Duodenum
47	chr7:50766200-50777600	Weak transcription	Brain Anterior Caudate	brain
48	chr7:50766400-50769400	Weak transcription	Stomach Smooth Muscle	stomach
49	chr7:50766400-50769800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr7:50766400-50769800	Weak transcription	Brain Substantia Nigra	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links