Variant report

Variant	rs3779072
Chromosome Location	chr7:50770629-50770630
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	chr7:50763899..50766081-chr7:50769657..50771184,2	K562	blood:
2	chr7:50768451..50771313-chr7:50772394..50775472,4	K562	blood:

Variant related genes	Relation type
ENSG00000106070	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs1024529	0.80[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs10273302	0.87[CEU][hapmap]
rs10278363	0.94[CEU][hapmap];0.83[JPT][hapmap];0.80[EUR][1000 genomes]
rs11238339	0.87[CEU][hapmap]
rs12536500	0.80[CHB][hapmap];0.83[JPT][hapmap]
rs12665949	0.87[CEU][hapmap]
rs13236710	0.90[CHB][hapmap];0.86[CHD][hapmap]
rs17134002	0.80[CHB][hapmap];0.88[CHD][hapmap];0.94[JPT][hapmap];0.90[ASN][1000 genomes]
rs17152120	0.90[CHB][hapmap];0.86[CHD][hapmap]
rs1962390	1.00[CHB][hapmap];0.94[JPT][hapmap];0.92[ASN][1000 genomes]
rs1962391	0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs1978208	1.00[CEU][hapmap];0.94[JPT][hapmap];0.91[TSI][hapmap];0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2058014	0.84[AFR][1000 genomes]
rs2190502	0.88[AFR][1000 genomes]
rs2214963	0.88[AFR][1000 genomes]
rs2237490	0.84[AFR][1000 genomes]
rs2299153	0.85[AFR][1000 genomes]
rs2329424	0.82[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];0.94[JPT][hapmap];0.92[ASN][1000 genomes]
rs2329489	0.90[AFR][1000 genomes]
rs2329490	0.91[ASN][1000 genomes]
rs2329491	0.92[ASN][1000 genomes]
rs2329494	1.00[CEU][hapmap];0.88[CHB][hapmap];0.93[JPT][hapmap];0.91[ASN][1000 genomes]
rs2529399	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2715119	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4521715	0.89[AFR][1000 genomes]
rs4947828	0.91[ASN][1000 genomes]
rs4947861	0.93[CEU][hapmap];0.83[JPT][hapmap];0.80[EUR][1000 genomes]
rs6593182	0.87[CEU][hapmap];0.83[JPT][hapmap]
rs6968827	0.82[CEU][hapmap];0.90[CHB][hapmap];0.89[CHD][hapmap];0.94[JPT][hapmap];0.91[ASN][1000 genomes]
rs7383871	0.91[ASN][1000 genomes]
rs7780348	0.94[JPT][hapmap];0.91[ASN][1000 genomes]
rs7782797	0.83[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7794299	1.00[CEU][hapmap];0.90[CHB][hapmap];0.91[CHD][hapmap];0.94[JPT][hapmap];0.91[TSI][hapmap];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs933360	0.84[AFR][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:92 , 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	chr7:50750000-50778600	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr7:50755400-50777000	Weak transcription	Esophagus	oesophagus
4	chr7:50756200-50779200	Weak transcription	Osteobl	bone
5	chr7:50757000-50771400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr7:50757000-50775000	Weak transcription	Psoas Muscle	Psoas
7	chr7:50757400-50771200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr7:50757400-50772600	Weak transcription	Aorta	Aorta
9	chr7:50758800-50771600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr7:50758800-50779400	Weak transcription	Fetal Kidney	kidney
11	chr7:50761600-50771200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr7:50761600-50771600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr7:50761800-50771200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr7:50762000-50771400	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr7:50762000-50772400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr7:50762200-50772800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr7:50763400-50806800	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr7:50764000-50778800	Weak transcription	HSMM	muscle
19	chr7:50765400-50776800	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr7:50765600-50771400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr7:50765600-50772400	Weak transcription	Right Atrium	heart
22	chr7:50765800-50773400	Weak transcription	Fetal Intestine Large	intestine
23	chr7:50765800-50776800	Weak transcription	Brain Angular Gyrus	brain
24	chr7:50765800-50776800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr7:50765800-50776800	Weak transcription	Fetal Intestine Small	intestine
26	chr7:50765800-50777000	Weak transcription	Fetal Stomach	stomach
27	chr7:50766200-50777600	Weak transcription	Brain Anterior Caudate	brain
28	chr7:50766400-50772400	Weak transcription	Fetal Brain Male	brain
29	chr7:50766400-50774600	Weak transcription	NHLF	lung
30	chr7:50766400-50776800	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr7:50766400-50779800	Weak transcription	Brain Germinal Matrix	brain
32	chr7:50766400-50783200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr7:50766400-50785800	Weak transcription	Small Intestine	intestine
34	chr7:50766600-50779000	Weak transcription	Fetal Lung	lung
35	chr7:50766800-50774000	Weak transcription	Colon Smooth Muscle	Colon
36	chr7:50767600-50771200	Strong transcription	HSMMtube	muscle
37	chr7:50768000-50772000	Strong transcription	K562	blood
38	chr7:50768000-50773000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr7:50768200-50770800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr7:50768200-50771000	Strong transcription	HUES64 Cell Line	embryonic stem cell
41	chr7:50768200-50771800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr7:50768200-50773000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr7:50768400-50771000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr7:50768400-50771200	Weak transcription	HMEC	breast
45	chr7:50768400-50771600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr7:50768400-50771800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr7:50768600-50770800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
48	chr7:50768600-50771000	Strong transcription	Cortex derived primary cultured neurospheres	brain
49	chr7:50768600-50776600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr7:50769000-50771600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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