Variant report

Variant	rs7687289
Chromosome Location	chr4:56725045-56725046
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:56717920..56722163-chr4:56723001..56728347,7	K562	blood:
2	chr4:56717893..56722441-chr4:56723240..56726712,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000090989	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10014211	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1947128	0.89[CEU][hapmap];0.86[EUR][1000 genomes]
rs1947130	0.88[EUR][1000 genomes]
rs1979063	0.92[CEU][hapmap];0.90[EUR][1000 genomes]
rs3213948	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4865041	0.92[CEU][hapmap];0.89[EUR][1000 genomes]
rs6830943	0.92[CEU][hapmap];0.90[EUR][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	esv2755990	chr4:56317136-57143037	Strong transcription Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
2	nsv10496	chr4:56336946-56841137	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
3	nsv1005845	chr4:56522075-56980357	Active TSS Bivalent Enhancer Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	esv3406311	chr4:56580578-56840877	ZNF genes & repeats Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
5	nsv427681	chr4:56651921-56908209	Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:56720400-56764600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr4:56720600-56729000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr4:56720600-56729000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr4:56720600-56734600	Weak transcription	Lung	lung
5	chr4:56720600-56747400	Weak transcription	Spleen	Spleen
6	chr4:56720800-56725800	Weak transcription	Fetal Muscle Trunk	muscle
7	chr4:56720800-56726000	Weak transcription	Fetal Thymus	thymus
8	chr4:56720800-56734600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr4:56720800-56735200	Weak transcription	Esophagus	oesophagus
10	chr4:56720800-56737200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr4:56720800-56761800	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr4:56721000-56726000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr4:56721000-56726000	Weak transcription	Fetal Muscle Leg	muscle
14	chr4:56721000-56726400	Weak transcription	HSMM	muscle
15	chr4:56721000-56727000	Weak transcription	Right Ventricle	heart
16	chr4:56721000-56729000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr4:56721000-56731400	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr4:56721000-56734600	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr4:56721000-56734600	Weak transcription	Brain Substantia Nigra	brain
20	chr4:56721000-56747400	Weak transcription	Aorta	Aorta
21	chr4:56721200-56726200	Weak transcription	Brain Anterior Caudate	brain
22	chr4:56721200-56726800	Weak transcription	Stomach Smooth Muscle	stomach
23	chr4:56721200-56726800	Weak transcription	Osteobl	bone
24	chr4:56721200-56727000	Weak transcription	Brain Cingulate Gyrus	brain
25	chr4:56721200-56729000	Weak transcription	Fetal Stomach	stomach
26	chr4:56721200-56731000	Weak transcription	HMEC	breast
27	chr4:56721200-56731400	Weak transcription	Fetal Lung	lung
28	chr4:56721200-56731400	Weak transcription	A549	lung
29	chr4:56721200-56732200	Weak transcription	Stomach Mucosa	stomach
30	chr4:56721400-56726000	Weak transcription	HUVEC	blood vessel
31	chr4:56721400-56726400	Weak transcription	Duodenum Mucosa	Duodenum
32	chr4:56721400-56726400	Weak transcription	HSMMtube	muscle
33	chr4:56721400-56727000	Weak transcription	Fetal Intestine Small	intestine
34	chr4:56721400-56731000	Weak transcription	NH-A	brain
35	chr4:56721400-56731200	Weak transcription	Colon Smooth Muscle	Colon
36	chr4:56721400-56732600	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr4:56721400-56734600	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr4:56721400-56735800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr4:56721600-56725800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr4:56721600-56725800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr4:56721600-56726000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr4:56721600-56726000	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr4:56721600-56726600	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr4:56721600-56728800	Weak transcription	NHLF	lung
45	chr4:56721600-56729400	Weak transcription	NHEK	skin
46	chr4:56721600-56731400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr4:56721600-56731600	Weak transcription	Hela-S3	cervix
48	chr4:56721600-56732800	Weak transcription	Rectal Smooth Muscle	rectum
49	chr4:56721600-56774600	Weak transcription	Fetal Heart	heart
50	chr4:56721800-56726400	Weak transcription	Muscle Satellite Cultured Cells	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links