Variant report

Variant	rs12706144
Chromosome Location	chr7:116776726-116776727
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:116766497..116768000-chr7:116776543..116778424,2	K562	blood:
2	chr7:116775590..116781476-chr7:116782578..116788226,8	K562	blood:
3	chr7:116592657..116594737-chr7:116774371..116776801,2	K562	blood:
4	chr7:116768585..116771168-chr7:116773289..116776749,4	K562	blood:

Variant related genes	Relation type
ENSG00000004866	Chromatin interaction
ENSG00000214188	Chromatin interaction
ENSG00000226367	Chromatin interaction
ENSG00000227199	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]
rs12706143	0.88[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13221657	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13222576	1.00[CHB][hapmap]
rs13224314	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13239447	1.00[CHB][hapmap]
rs13308921	1.00[CHB][hapmap]
rs2188693	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3808218	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3808222	0.88[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.88[EUR][1000 genomes];0.94[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:89 , 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	chr7:116765400-116779400	Weak transcription	Duodenum Mucosa	Duodenum
13	chr7:116765400-116784200	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr7:116765400-116791800	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr7:116765400-116798000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr7:116765600-116783000	Weak transcription	HepG2	liver
17	chr7:116767000-116797400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr7:116767200-116797200	Weak transcription	Brain Cingulate Gyrus	brain
19	chr7:116767400-116780400	Weak transcription	Brain Substantia Nigra	brain
20	chr7:116767600-116778400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr7:116767600-116797200	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr7:116767800-116777200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr7:116767800-116778000	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr7:116768400-116776800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr7:116768400-116777000	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr7:116769800-116780600	Weak transcription	Fetal Heart	heart
27	chr7:116770800-116781200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr7:116771200-116783400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr7:116771400-116779800	Strong transcription	Brain Germinal Matrix	brain
30	chr7:116771800-116780000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr7:116773000-116777600	Strong transcription	Liver	Liver
32	chr7:116773000-116791600	Weak transcription	Colon Smooth Muscle	Colon
33	chr7:116773200-116778200	Weak transcription	Fetal Intestine Large	intestine
34	chr7:116773600-116778600	Weak transcription	HUVEC	blood vessel
35	chr7:116773600-116783400	Weak transcription	NHEK	skin
36	chr7:116773600-116797000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr7:116773800-116778600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr7:116773800-116783200	Weak transcription	HMEC	breast
39	chr7:116774200-116776800	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr7:116774200-116779800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
41	chr7:116774200-116781200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr7:116774800-116783200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr7:116775000-116778600	Weak transcription	Primary hematopoietic stem cells	blood
44	chr7:116775000-116783000	Weak transcription	Spleen	Spleen
45	chr7:116775000-116786400	Weak transcription	Placenta Amnion	Placenta Amnion
46	chr7:116775200-116778800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr7:116775200-116782800	Weak transcription	Lung	lung
48	chr7:116775200-116783000	Weak transcription	NH-A	brain
49	chr7:116775200-116790800	Weak transcription	Fetal Brain Male	brain
50	chr7:116775200-116791800	Weak transcription	Small Intestine	intestine

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