Variant report

Variant	rs12706143
Chromosome Location	chr7:116775047-116775048
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:116592657..116594737-chr7:116774371..116776801,2	K562	blood:
2	chr7:116768585..116771168-chr7:116773289..116776749,4	K562	blood:

Variant related genes	Relation type
ENSG00000214188	Chromatin interaction
ENSG00000227199	Chromatin interaction
ENSG00000004866	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11762032	1.00[CHB][hapmap]
rs11764134	1.00[CHB][hapmap]
rs11773591	1.00[CHB][hapmap]
rs12706125	1.00[CHB][hapmap]
rs12706126	1.00[CHB][hapmap]
rs12706134	1.00[CHB][hapmap]
rs12706135	1.00[CHB][hapmap]
rs12706137	1.00[CHB][hapmap]
rs12706138	1.00[CHB][hapmap]
rs12706139	1.00[CHB][hapmap]
rs12706140	1.00[CHB][hapmap]
rs12706141	1.00[CHB][hapmap]
rs12706144	0.88[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13221657	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13222576	1.00[CHB][hapmap]
rs13224314	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13239447	1.00[CHB][hapmap]
rs13308921	1.00[CHB][hapmap]
rs2188693	0.88[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3808218	0.88[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3808222	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831108	chr7:116749534-116952011	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:116738400-116779600	Weak transcription	Esophagus	oesophagus
2	chr7:116751400-116778600	Weak transcription	Stomach Smooth Muscle	stomach
3	chr7:116754200-116797400	Weak transcription	Fetal Stomach	stomach
4	chr7:116759200-116778200	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr7:116765000-116778000	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr7:116765000-116782000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr7:116765000-116783000	Weak transcription	Fetal Intestine Small	intestine
8	chr7:116765000-116790200	Weak transcription	Psoas Muscle	Psoas
9	chr7:116765000-116792400	Weak transcription	Fetal Kidney	kidney
10	chr7:116765000-116797200	Weak transcription	Pancreas	Pancrea
11	chr7:116765200-116778400	Weak transcription	Aorta	Aorta
12	chr7:116765400-116776000	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr7:116765400-116779400	Weak transcription	Duodenum Mucosa	Duodenum
14	chr7:116765400-116784200	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr7:116765400-116791800	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr7:116765400-116798000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr7:116765600-116775800	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr7:116765600-116783000	Weak transcription	HepG2	liver
19	chr7:116767000-116775200	Weak transcription	Brain Hippocampus Middle	brain
20	chr7:116767000-116797400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr7:116767200-116797200	Weak transcription	Brain Cingulate Gyrus	brain
22	chr7:116767400-116780400	Weak transcription	Brain Substantia Nigra	brain
23	chr7:116767600-116778400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr7:116767600-116797200	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr7:116767800-116777200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr7:116767800-116778000	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr7:116768400-116776800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr7:116768400-116777000	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr7:116769800-116780600	Weak transcription	Fetal Heart	heart
30	chr7:116770000-116775600	Weak transcription	Adipose Nuclei	Adipose
31	chr7:116770400-116776200	Strong transcription	K562	blood
32	chr7:116770800-116781200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr7:116771000-116775800	Weak transcription	Gastric	stomach
34	chr7:116771200-116783400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr7:116771400-116779800	Strong transcription	Brain Germinal Matrix	brain
36	chr7:116771600-116775600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr7:116771800-116780000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr7:116772000-116776200	Strong transcription	Fetal Muscle Trunk	muscle
39	chr7:116772200-116775800	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr7:116772400-116776000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr7:116772600-116775800	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr7:116772800-116775400	Weak transcription	Fetal Brain Female	brain
43	chr7:116772800-116776000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr7:116773000-116777600	Strong transcription	Liver	Liver
45	chr7:116773000-116791600	Weak transcription	Colon Smooth Muscle	Colon
46	chr7:116773200-116775200	Strong transcription	Fetal Brain Male	brain
47	chr7:116773200-116778200	Weak transcription	Fetal Intestine Large	intestine
48	chr7:116773400-116776000	Enhancers	NHDF-Ad	bronchial
49	chr7:116773600-116775600	Enhancers	Osteobl	bone
50	chr7:116773600-116778600	Weak transcription	HUVEC	blood vessel

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