Variant report

Variant	rs12705193
Chromosome Location	chr7:103830222-103830223
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:103828241..103832617-chr7:103845942..103850050,7	K562	blood:
2	chr7:103820850..103822660-chr7:103828536..103831512,3	K562	blood:
3	chr7:103826365..103828969-chr7:103829886..103833367,4	K562	blood:

Variant related genes	Relation type
ENSG00000164815	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10808128	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10953408	0.81[AMR][1000 genomes]
rs113877	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12056186	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12056191	1.00[YRI][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12705180	0.80[JPT][hapmap]
rs12705186	0.87[YRI][hapmap];0.80[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs12705187	0.80[JPT][hapmap];0.81[EUR][1000 genomes]
rs12705188	0.91[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12705190	0.81[CHB][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12705191	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12705192	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13238183	0.80[JPT][hapmap];0.81[AMR][1000 genomes]
rs194837	0.84[EUR][1000 genomes]
rs194838	0.84[EUR][1000 genomes]
rs194841	0.84[JPT][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs194846	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs194847	0.84[JPT][hapmap]
rs194849	0.85[YRI][hapmap]
rs194851	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs194857	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs194861	0.84[EUR][1000 genomes]
rs194865	0.80[JPT][hapmap]
rs194867	0.85[YRI][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs194868	0.85[YRI][hapmap]
rs2160397	0.83[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2245659	0.81[EUR][1000 genomes]
rs2283035	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2299408	0.85[YRI][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2299411	0.80[JPT][hapmap]
rs34096272	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35034355	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3757734	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3779518	0.93[EUR][1000 genomes]
rs3808008	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3823979	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4140860	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4265124	0.86[EUR][1000 genomes]
rs4385404	0.85[EUR][1000 genomes]
rs62485910	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6948583	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6961262	0.80[JPT][hapmap];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6967757	0.82[AMR][1000 genomes]
rs765408	0.85[EUR][1000 genomes]
rs9768749	0.82[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1019640	chr7:103813522-103884705	Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
2	nsv1026481	chr7:103813522-103890770	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
3	esv2762692	chr7:103813522-103890782	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
4	nsv526062	chr7:103817597-103891085	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
5	nsv608065	chr7:103817597-103990755	Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
6	nsv527105	chr7:103826002-103836132	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:103765600-103840200	Weak transcription	Small Intestine	intestine
2	chr7:103766200-103838400	Weak transcription	Spleen	Spleen
3	chr7:103767200-103843600	Weak transcription	Right Ventricle	heart
4	chr7:103796400-103843600	Weak transcription	Fetal Brain Male	brain
5	chr7:103797200-103847000	Weak transcription	Fetal Heart	heart
6	chr7:103802200-103838600	Weak transcription	Psoas Muscle	Psoas
7	chr7:103809400-103838200	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr7:103815400-103839200	Weak transcription	Colonic Mucosa	Colon
9	chr7:103815600-103838400	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr7:103816000-103846200	Weak transcription	Stomach Mucosa	stomach
11	chr7:103816800-103836600	Weak transcription	Brain Substantia Nigra	brain
12	chr7:103818600-103832400	Strong transcription	Liver	Liver
13	chr7:103818600-103839600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr7:103818800-103832800	Strong transcription	Primary T helper cells PMA-I stimulated	--
15	chr7:103819000-103832400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr7:103819000-103838400	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr7:103819200-103830800	Strong transcription	Primary T helper cells fromperipheralblood	blood
18	chr7:103819600-103830400	Strong transcription	Duodenum Mucosa	Duodenum
19	chr7:103820400-103832400	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr7:103821800-103839400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr7:103822000-103845400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr7:103822200-103836400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr7:103822400-103830400	Strong transcription	HepG2	liver
24	chr7:103822600-103830400	Strong transcription	Fetal Thymus	thymus
25	chr7:103822600-103839600	Strong transcription	K562	blood
26	chr7:103823000-103832600	Strong transcription	Dnd41	blood
27	chr7:103823000-103839200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr7:103823000-103839200	Weak transcription	Brain Hippocampus Middle	brain
29	chr7:103823200-103831600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr7:103823600-103830800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr7:103823800-103838600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr7:103823800-103839200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr7:103823800-103839200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr7:103823800-103839200	Weak transcription	Esophagus	oesophagus
35	chr7:103824000-103830600	Strong transcription	HUES48 Cell Line	embryonic stem cell
36	chr7:103824000-103832600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
37	chr7:103824200-103830400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
38	chr7:103824200-103835400	Weak transcription	NHEK	skin
39	chr7:103824200-103838400	Weak transcription	Brain Cingulate Gyrus	brain
40	chr7:103824400-103832600	Strong transcription	HUES6 Cell Line	embryonic stem cell
41	chr7:103824400-103837200	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr7:103824400-103838600	Weak transcription	Brain Angular Gyrus	brain
43	chr7:103825000-103831800	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr7:103825000-103831800	Weak transcription	Ovary	ovary
45	chr7:103825200-103831800	Weak transcription	NH-A	brain
46	chr7:103825200-103839600	Strong transcription	HUES64 Cell Line	embryonic stem cell
47	chr7:103825600-103832200	Weak transcription	Thymus	Thymus
48	chr7:103825600-103838400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr7:103826400-103832800	Strong transcription	Primary T cells from cord blood	blood
50	chr7:103826400-103844400	Strong transcription	Primary T cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links