Variant report

Variant	rs7960185
Chromosome Location	chr12:50056869-50056870
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:50020139..50023155-chr12:50054271..50057275,3	K562	blood:
2	chr12:50048898..50051795-chr12:50055733..50057406,4	K562	blood:
3	chr12:50055936..50058449-chr12:50062400..50065896,4	K562	blood:
4	chr12:50054459..50059214-chr12:50133848..50137587,7	K562	blood:
5	chr12:50054963..50057045-chr12:50065991..50068572,3	K562	blood:
6	chr12:50054340..50058502-chr12:50061913..50069673,7	K562	blood:

Variant related genes	Relation type
ENSG00000161791	Chromatin interaction
ENSG00000139644	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs11169071	1.00[EUR][1000 genomes]
rs11830472	1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs11831670	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11831673	1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs11832420	1.00[YRI][hapmap];0.96[AFR][1000 genomes]
rs11832727	1.00[YRI][hapmap]
rs11833472	0.96[AFR][1000 genomes]
rs11834570	1.00[YRI][hapmap]
rs11835085	1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11837637	1.00[YRI][hapmap]
rs12298123	1.00[EUR][1000 genomes]
rs12299477	1.00[EUR][1000 genomes]
rs12299743	1.00[EUR][1000 genomes]
rs12300085	1.00[EUR][1000 genomes]
rs12306942	1.00[EUR][1000 genomes]
rs12309399	1.00[EUR][1000 genomes]
rs12311319	1.00[EUR][1000 genomes]
rs12311910	1.00[EUR][1000 genomes]
rs12313583	1.00[EUR][1000 genomes]
rs12314348	1.00[EUR][1000 genomes]
rs12315746	1.00[EUR][1000 genomes]
rs12315941	1.00[EUR][1000 genomes]
rs12319527	1.00[EUR][1000 genomes]
rs12320104	1.00[EUR][1000 genomes]
rs12320612	1.00[EUR][1000 genomes]
rs12321717	1.00[EUR][1000 genomes]
rs28420769	1.00[EUR][1000 genomes]
rs3861577	1.00[YRI][hapmap];0.93[AFR][1000 genomes]
rs56840810	0.93[AFR][1000 genomes]
rs57489906	0.93[AFR][1000 genomes]
rs57970210	1.00[EUR][1000 genomes]
rs58867453	1.00[EUR][1000 genomes]
rs59570650	1.00[EUR][1000 genomes]
rs59576871	1.00[EUR][1000 genomes]
rs60507124	1.00[EUR][1000 genomes]
rs61227990	1.00[EUR][1000 genomes]
rs7310069	0.93[AFR][1000 genomes]
rs7312037	1.00[YRI][hapmap]
rs7313183	1.00[YRI][hapmap]
rs7973011	1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs7978381	1.00[YRI][hapmap];0.90[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832406	chr12:49860693-50062136	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv482795	chr12:49897633-50068686	Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv1045327	chr12:49975040-50551375	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases
4	nsv541490	chr12:49975040-50551375	Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50030800-50057000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr12:50042400-50067000	Weak transcription	Fetal Brain Male	brain
3	chr12:50044400-50057000	Weak transcription	Esophagus	oesophagus
4	chr12:50051000-50058200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr12:50052200-50066200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr12:50052400-50058400	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr12:50052400-50064800	Weak transcription	Fetal Kidney	kidney
8	chr12:50052600-50059200	Weak transcription	Brain Germinal Matrix	brain
9	chr12:50052600-50067000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr12:50052600-50067400	Weak transcription	Fetal Brain Female	brain
11	chr12:50052800-50057000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr12:50052800-50057000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr12:50053600-50060000	Enhancers	Adipose Nuclei	Adipose
14	chr12:50053800-50057200	Weak transcription	Brain Angular Gyrus	brain
15	chr12:50053800-50059200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr12:50054200-50058200	Enhancers	Spleen	Spleen
17	chr12:50054400-50059000	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr12:50054400-50059600	Enhancers	Right Atrium	heart
19	chr12:50054400-50060200	Enhancers	Placenta	Placenta
20	chr12:50054400-50069800	Enhancers	Left Ventricle	heart
21	chr12:50054600-50061000	Genic enhancers	Fetal Muscle Leg	muscle
22	chr12:50054800-50057200	Weak transcription	Gastric	stomach
23	chr12:50055200-50057000	Enhancers	Fetal Intestine Small	intestine
24	chr12:50055200-50057600	Enhancers	Brain Hippocampus Middle	brain
25	chr12:50055200-50058800	Enhancers	Right Ventricle	heart
26	chr12:50055200-50059800	Enhancers	Fetal Intestine Large	intestine
27	chr12:50055200-50060000	Enhancers	Brain Anterior Caudate	brain
28	chr12:50055200-50060200	Enhancers	Small Intestine	intestine
29	chr12:50055400-50057800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
30	chr12:50055400-50059000	Enhancers	Sigmoid Colon	Sigmoid Colon
31	chr12:50055400-50059600	Enhancers	Rectal Mucosa Donor 31	rectum
32	chr12:50055400-50060800	Genic enhancers	Fetal Stomach	stomach
33	chr12:50055400-50061400	Enhancers	Brain Substantia Nigra	brain
34	chr12:50055600-50057600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
35	chr12:50055600-50058000	Enhancers	Duodenum Smooth Muscle	Duodenum
36	chr12:50055600-50062400	Enhancers	Psoas Muscle	Psoas
37	chr12:50055800-50057000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr12:50055800-50057200	Weak transcription	Pancreas	Pancrea
39	chr12:50055800-50058000	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr12:50055800-50058400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
41	chr12:50056000-50057000	Weak transcription	Ovary	ovary
42	chr12:50056000-50057200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
43	chr12:50056000-50057200	Weak transcription	Stomach Mucosa	stomach
44	chr12:50056000-50057600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr12:50056000-50057800	Enhancers	Fetal Heart	heart
46	chr12:50056000-50058600	Enhancers	Colonic Mucosa	Colon
47	chr12:50056000-50058800	Enhancers	Breast Myoepithelial Primary Cells	Breast
48	chr12:50056000-50059000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr12:50056000-50060000	Enhancers	Liver	Liver
50	chr12:50056200-50057200	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links