Variant report

Variant	rs1795864
Chromosome Location	chr12:104935459-104935460
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:104933677..104936423-chr12:104938909..104940435,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs12829137	0.82[CHB][hapmap]
rs12829561	0.82[CHB][hapmap]
rs1553836	1.00[CHB][hapmap];0.85[YRI][hapmap];0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1553839	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1625417	0.93[YRI][hapmap];0.91[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs1626422	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1628116	1.00[CHB][hapmap];0.85[YRI][hapmap];0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1704903	0.96[YRI][hapmap];0.95[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs1704905	0.94[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs1704915	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1704916	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1704917	1.00[CHB][hapmap];0.85[YRI][hapmap];0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1704918	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1704921	0.80[YRI][hapmap];0.95[EUR][1000 genomes]
rs1704922	0.96[EUR][1000 genomes]
rs1704924	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1704925	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1704926	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1704927	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1704929	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1795851	0.96[EUR][1000 genomes]
rs1795852	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1795853	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1795854	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1795855	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1795856	0.97[EUR][1000 genomes]
rs1795857	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1795859	0.97[EUR][1000 genomes]
rs1795861	0.97[EUR][1000 genomes]
rs1795862	1.00[CHB][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1795865	0.85[ASN][1000 genomes]
rs1795867	1.00[CHB][hapmap];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1795868	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1795870	1.00[CHB][hapmap];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1795872	1.00[CHB][hapmap];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1973589	1.00[CHB][hapmap];0.85[YRI][hapmap];0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2055861	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2665739	0.82[CHB][hapmap]
rs2665748	1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs2706273	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs313325	0.82[CHB][hapmap]
rs6539159	0.85[YRI][hapmap]
rs7968613	0.85[YRI][hapmap]
rs907097	0.93[AMR][1000 genomes];0.97[EUR][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	nsv832504	chr12:104853331-105028245	Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104915600-104936600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr12:104921400-104939000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr12:104924800-104939600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr12:104927200-104943000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr12:104928600-104939000	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr12:104929200-104939000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr12:104929200-104939000	Weak transcription	Lung	lung
8	chr12:104929200-104940400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr12:104929200-104942800	Weak transcription	Pancreas	Pancrea
10	chr12:104930200-104957600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr12:104930600-104939000	Weak transcription	Spleen	Spleen
12	chr12:104930600-104939200	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr12:104930800-104940800	Weak transcription	Colon Smooth Muscle	Colon
14	chr12:104930800-104943800	Weak transcription	Small Intestine	intestine
15	chr12:104931200-104936400	Weak transcription	Thymus	Thymus
16	chr12:104931200-104936400	Weak transcription	GM12878-XiMat	blood
17	chr12:104931200-104938200	Weak transcription	Placenta	Placenta
18	chr12:104931200-104938800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr12:104931200-104939000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr12:104931200-104940200	Weak transcription	Primary B cells from cord blood	blood
21	chr12:104932200-104936000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
22	chr12:104933200-104940200	Weak transcription	K562	blood
23	chr12:104933600-104935600	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr12:104933600-104941600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr12:104933800-104938600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr12:104934200-104935600	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr12:104934200-104935800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr12:104934200-104935800	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr12:104934200-104935800	Enhancers	Brain Anterior Caudate	brain
30	chr12:104934200-104936000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr12:104934400-104939000	Weak transcription	Primary B cells from peripheral blood	blood
32	chr12:104934600-104935800	Enhancers	Brain Germinal Matrix	brain
33	chr12:104934600-104938600	Weak transcription	Primary T cells fromperipheralblood	blood
34	chr12:104934600-104939000	Weak transcription	Fetal Thymus	thymus
35	chr12:104934800-104935800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr12:104934800-104936000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr12:104934800-104938600	Weak transcription	Primary hematopoietic stem cells	blood
38	chr12:104934800-104938800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr12:104934800-104939000	Weak transcription	Primary T helper cells PMA-I stimulated	--
40	chr12:104935000-104935600	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr12:104935000-104938800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr12:104935200-104935600	Enhancers	iPS-20b Cell Line	embryonic stem cell
43	chr12:104935200-104937600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
44	chr12:104935200-104947400	Weak transcription	Aorta	Aorta
45	chr12:104935400-104935600	Enhancers	iPS-18 Cell Line	embryonic stem cell
46	chr12:104935400-104935600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
47	chr12:104935400-104936000	Enhancers	Primary neutrophils fromperipheralblood	blood
48	chr12:104935400-104937200	Strong transcription	Dnd41	blood
49	chr12:104935400-104938600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr12:104935400-104938600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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