Variant report

Variant	rs10861220
Chromosome Location	chr12:104863417-104863418
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:104861083..104865275-chr12:104866418..104870159,5	K562	blood:
2	chr12:104858578..104860832-chr12:104863067..104865005,3	K562	blood:
3	chr12:104850865..104852398-chr12:104863309..104864984,2	MCF-7	breast:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10778335	1.00[CEU][hapmap];0.86[GIH][hapmap];0.81[TSI][hapmap];0.86[EUR][1000 genomes]
rs10861222	0.82[ASN][1000 genomes]
rs10861223	0.82[ASN][1000 genomes]
rs11112070	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11112074	0.82[ASN][1000 genomes]
rs12819044	0.84[EUR][1000 genomes]
rs1922262	0.82[ASN][1000 genomes]
rs1922263	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs35676334	0.84[EUR][1000 genomes]
rs4964292	1.00[CEU][hapmap];0.90[TSI][hapmap];0.88[EUR][1000 genomes]
rs4964809	0.82[ASN][1000 genomes]
rs4964815	0.86[CEU][hapmap]
rs7301359	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs7973993	1.00[JPT][hapmap]

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	nsv832502	chr12:104833729-104908288	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	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
3	nsv868	chr12:104858964-104895572	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1042647	chr12:104861494-104888494	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104853200-104868600	Weak transcription	Fetal Muscle Trunk	muscle
2	chr12:104853600-104867000	Enhancers	Primary B cells from peripheral blood	blood
3	chr12:104853800-104870600	Weak transcription	Brain Cingulate Gyrus	brain
4	chr12:104854200-104867600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr12:104855200-104863800	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr12:104855200-104868200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr12:104855200-104868600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr12:104855400-104864800	Enhancers	Primary T cells fromperipheralblood	blood
9	chr12:104855400-104866400	Weak transcription	Brain Germinal Matrix	brain
10	chr12:104855400-104874400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr12:104855400-104874800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr12:104856800-104864400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr12:104856800-104867400	Enhancers	Thymus	Thymus
14	chr12:104857000-104865600	Enhancers	Primary T helper cells fromperipheralblood	blood
15	chr12:104857000-104867000	Weak transcription	NH-A	brain
16	chr12:104857000-104868200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr12:104857000-104873600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr12:104857200-104869200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
19	chr12:104857400-104863800	Enhancers	Primary T helper naive cells from peripheral blood	blood
20	chr12:104857400-104864600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
21	chr12:104857400-104866200	Weak transcription	Fetal Stomach	stomach
22	chr12:104857600-104863600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr12:104857600-104869200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
24	chr12:104857800-104867000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
25	chr12:104857800-104867000	Weak transcription	Left Ventricle	heart
26	chr12:104857800-104867000	Weak transcription	HUVEC	blood vessel
27	chr12:104857800-104871800	Weak transcription	Right Atrium	heart
28	chr12:104857800-104873600	Weak transcription	A549	lung
29	chr12:104858200-104866600	Weak transcription	Placenta	Placenta
30	chr12:104859200-104867200	Weak transcription	Stomach Smooth Muscle	stomach
31	chr12:104859200-104879800	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr12:104859400-104863800	Enhancers	Monocytes-CD14+_RO01746	blood
33	chr12:104859400-104866600	Weak transcription	Colonic Mucosa	Colon
34	chr12:104859600-104864000	Enhancers	Primary neutrophils fromperipheralblood	blood
35	chr12:104860600-104863600	Enhancers	Sigmoid Colon	Sigmoid Colon
36	chr12:104861200-104863600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr12:104861400-104866600	Weak transcription	Small Intestine	intestine
38	chr12:104861600-104866400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr12:104861800-104863600	Enhancers	Cortex derived primary cultured neurospheres	brain
40	chr12:104861800-104864000	Enhancers	Primary T cells from cord blood	blood
41	chr12:104861800-104864400	Enhancers	Fetal Thymus	thymus
42	chr12:104861800-104867000	Enhancers	Primary T helper cells PMA-I stimulated	--
43	chr12:104861800-104869200	Enhancers	Primary T killer memory cells from peripheral blood	blood
44	chr12:104862000-104863800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr12:104862000-104864200	Enhancers	K562	blood
46	chr12:104862200-104865000	ZNF genes & repeats	GM12878-XiMat	blood
47	chr12:104862400-104864000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
48	chr12:104862600-104863600	Enhancers	Fetal Brain Female	brain
49	chr12:104862600-104864000	Enhancers	Primary hematopoietic stem cells	blood
50	chr12:104862600-104866600	Weak transcription	Gastric	stomach

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