Variant report

Variant	rs10861106
Chromosome Location	chr12:104195571-104195572
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:104192525..104200371-chr12:104233987..104238967,10	MCF-7	breast:
2	chr12:104183990..104193430-chr12:104193641..104204611,16	MCF-7	breast:
3	chr12:104194168..104195687-chr12:104197418..104199673,2	K562	blood:
4	chr12:104190889..104195812-chr12:104232079..104236624,5	MCF-7	breast:
5	chr12:104192326..104196273-chr12:104235179..104237558,3	K562	blood:

Variant related genes	Relation type
ENSG00000111696	Chromatin interaction
ENSG00000257327	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10735389	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs10778286	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10778290	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10861107	0.82[CHB][hapmap];0.91[ASN][1000 genomes]
rs10861112	0.87[YRI][hapmap];0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11111774	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11111801	0.85[CHB][hapmap];0.89[JPT][hapmap];0.91[ASN][1000 genomes]
rs12307138	0.82[CHB][hapmap];0.91[ASN][1000 genomes]
rs12425205	0.82[CHB][hapmap];0.82[JPT][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1973658	0.93[ASN][1000 genomes]
rs3812804	0.82[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs4248827	0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs4300459	0.85[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4964629	0.95[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.91[YRI][hapmap];0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4964818	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4981034	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs6539101	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs7135173	0.89[ASN][1000 genomes]
rs7136682	0.82[CHB][hapmap]
rs7970553	0.82[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs9739384	1.00[JPT][hapmap];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899480	chr12:104092996-104211440	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv899481	chr12:104092996-104213731	Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv899482	chr12:104092996-104218956	Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	esv34031	chr12:104114277-104298546	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
5	nsv899483	chr12:104117462-104218956	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv899487	chr12:104118587-104218956	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv899489	chr12:104144835-104218956	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv899490	chr12:104149022-104218956	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv560039	chr12:104177668-104455340	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104163600-104204200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr12:104167200-104199800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:104169000-104197800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr12:104171800-104216000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr12:104173800-104208800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr12:104177800-104207600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr12:104185800-104198800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr12:104187400-104206800	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr12:104187800-104198200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr12:104187800-104212600	Weak transcription	GM12878-XiMat	blood
11	chr12:104188600-104195600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr12:104188800-104195800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr12:104188800-104196400	Weak transcription	Thymus	Thymus
14	chr12:104190400-104196000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr12:104190800-104196000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr12:104190800-104198800	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr12:104190800-104201800	Weak transcription	Gastric	stomach
18	chr12:104190800-104204400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr12:104191000-104195600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr12:104191000-104209800	Weak transcription	Primary T cells fromperipheralblood	blood
21	chr12:104191000-104211800	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr12:104191200-104195600	Weak transcription	Aorta	Aorta
23	chr12:104191800-104195600	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr12:104192000-104200400	Weak transcription	Primary T helper cells PMA-I stimulated	--
25	chr12:104192600-104206600	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr12:104192800-104196400	Enhancers	Primary monocytes fromperipheralblood	blood
27	chr12:104192800-104197000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr12:104192800-104199600	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr12:104193000-104196600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr12:104193000-104196800	Enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr12:104193000-104217600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr12:104193200-104196200	Enhancers	Lung	lung
33	chr12:104193400-104196400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr12:104193400-104196600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr12:104193400-104197000	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr12:104193400-104197000	Enhancers	Fetal Muscle Leg	muscle
37	chr12:104193600-104195800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr12:104193600-104196000	Enhancers	Fetal Heart	heart
39	chr12:104193600-104196800	Enhancers	HepG2	liver
40	chr12:104193600-104196800	Enhancers	HSMM	muscle
41	chr12:104193600-104204000	Weak transcription	Primary T cells from cord blood	blood
42	chr12:104193800-104198200	Genic enhancers	K562	blood
43	chr12:104194000-104195600	Enhancers	Primary B cells from cord blood	blood
44	chr12:104194000-104206800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr12:104194200-104195800	Enhancers	Right Ventricle	heart
46	chr12:104194200-104196400	Enhancers	Monocytes-CD14+_RO01746	blood
47	chr12:104194400-104195600	Enhancers	HMEC	breast
48	chr12:104194400-104195800	Enhancers	HUVEC	blood vessel
49	chr12:104194400-104196000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr12:104194400-104196000	Genic enhancers	NHEK	skin

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