Variant report

Variant	rs9634185
Chromosome Location	chr12:105624825-105624826
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:105606795..105619301-chr12:105624368..105633184,26	MCF-7	breast:
2	chr12:105620755..105625323-chr12:105625745..105629848,5	K562	blood:

Variant related genes	Relation type
ENSG00000235162	Chromatin interaction
ENSG00000136044	Chromatin interaction

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs10459207	0.91[EUR][1000 genomes]
rs1076	0.80[CEU][hapmap];0.82[CHB][hapmap];0.84[JPT][hapmap];0.90[EUR][1000 genomes]
rs10778370	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10861337	0.89[CEU][hapmap];0.80[EUR][1000 genomes]
rs10861342	0.80[CEU][hapmap];0.80[EUR][1000 genomes]
rs10861346	0.80[CEU][hapmap];0.82[CHB][hapmap];0.80[EUR][1000 genomes]
rs10861350	0.80[EUR][1000 genomes]
rs10861353	0.93[EUR][1000 genomes]
rs10861354	0.80[CEU][hapmap];0.90[EUR][1000 genomes]
rs10861355	0.90[EUR][1000 genomes]
rs10861356	0.80[CEU][hapmap];0.82[CHB][hapmap];0.85[JPT][hapmap];0.91[EUR][1000 genomes]
rs10861357	0.80[CEU][hapmap];0.82[CHB][hapmap];0.84[JPT][hapmap];0.93[EUR][1000 genomes]
rs10861358	0.80[CEU][hapmap];0.91[EUR][1000 genomes]
rs10861360	0.80[CEU][hapmap];0.82[CHB][hapmap];0.84[JPT][hapmap];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10861365	0.85[ASN][1000 genomes]
rs10861366	0.82[ASN][1000 genomes]
rs10861368	0.80[ASN][1000 genomes]
rs10861369	0.83[CHB][hapmap];0.80[ASN][1000 genomes]
rs11112359	0.80[EUR][1000 genomes]
rs11112366	0.80[EUR][1000 genomes]
rs11112368	0.84[EUR][1000 genomes]
rs11112371	0.91[EUR][1000 genomes]
rs11112373	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs11112374	0.93[EUR][1000 genomes]
rs11112378	0.80[CEU][hapmap];0.82[CHB][hapmap];0.85[JPT][hapmap];0.93[EUR][1000 genomes]
rs11112380	0.80[CEU][hapmap];0.82[CHB][hapmap];0.85[JPT][hapmap];0.93[EUR][1000 genomes]
rs11112386	0.91[EUR][1000 genomes]
rs11112390	0.91[EUR][1000 genomes]
rs11112393	0.90[EUR][1000 genomes]
rs11112394	0.80[CEU][hapmap];0.82[CHB][hapmap];0.84[JPT][hapmap];0.93[EUR][1000 genomes]
rs11112396	0.90[EUR][1000 genomes]
rs11112397	0.90[EUR][1000 genomes]
rs11112398	0.91[EUR][1000 genomes]
rs11112403	0.80[CEU][hapmap];0.91[EUR][1000 genomes]
rs11112413	0.94[EUR][1000 genomes]
rs11112418	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112422	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11112435	0.85[ASN][1000 genomes]
rs11112439	0.80[ASN][1000 genomes]
rs11112441	0.80[ASN][1000 genomes]
rs12227605	0.93[EUR][1000 genomes]
rs12229846	0.89[CEU][hapmap];0.82[CHB][hapmap];0.85[JPT][hapmap];0.93[EUR][1000 genomes]
rs12306463	0.81[ASN][1000 genomes]
rs12316054	0.89[CEU][hapmap];0.85[JPT][hapmap];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12320123	0.87[EUR][1000 genomes]
rs12322134	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1345095	0.80[EUR][1000 genomes]
rs1444608	0.87[CEU][hapmap];0.84[JPT][hapmap];0.93[EUR][1000 genomes]
rs1663563	0.84[JPT][hapmap]
rs2044307	0.80[CEU][hapmap];0.82[CHB][hapmap];0.84[JPT][hapmap];0.93[EUR][1000 genomes]
rs2888841	0.87[EUR][1000 genomes]
rs34705618	0.93[EUR][1000 genomes]
rs3794232	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3794237	0.85[ASN][1000 genomes]
rs3829297	0.80[CEU][hapmap];0.91[EUR][1000 genomes]
rs61506525	0.91[EUR][1000 genomes]
rs703683	0.80[CEU][hapmap];0.91[EUR][1000 genomes]
rs7136344	0.80[CEU][hapmap];0.90[EUR][1000 genomes]
rs7138073	0.81[ASN][1000 genomes]
rs7305712	0.80[CEU][hapmap];0.88[EUR][1000 genomes]
rs73395802	0.90[EUR][1000 genomes]
rs7488014	1.00[CEU][hapmap];0.83[CHB][hapmap];0.85[JPT][hapmap];0.91[YRI][hapmap];0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7955095	0.80[ASN][1000 genomes]
rs7966106	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7972263	0.80[ASN][1000 genomes]
rs7975125	0.99[ASN][1000 genomes]
rs7975197	0.81[ASN][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	nsv832506	chr12:105461274-105637561	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
2	nsv455704	chr12:105583877-105651356	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
3	nsv560053	chr12:105583877-105651356	Genic enhancers Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
4	nsv899499	chr12:105616297-105722529	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105546800-105625200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr12:105584000-105627000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr12:105600800-105626800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:105605600-105628400	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr12:105609200-105626800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr12:105609200-105628600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr12:105611200-105628200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr12:105611600-105626200	Weak transcription	Fetal Brain Male	brain
9	chr12:105616600-105629000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr12:105617000-105629000	Weak transcription	Esophagus	oesophagus
11	chr12:105617400-105625400	Genic enhancers	Muscle Satellite Cultured Cells	--
12	chr12:105617400-105629000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr12:105617600-105625400	Strong transcription	A549	lung
14	chr12:105618200-105625200	Weak transcription	Right Ventricle	heart
15	chr12:105618600-105625200	Weak transcription	Spleen	Spleen
16	chr12:105618600-105626800	Weak transcription	Gastric	stomach
17	chr12:105619400-105625200	Genic enhancers	HSMM	muscle
18	chr12:105619400-105627400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr12:105620000-105625800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr12:105620400-105625000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr12:105620400-105625200	Weak transcription	Primary hematopoietic stem cells	blood
22	chr12:105620400-105625200	Weak transcription	Pancreas	Pancrea
23	chr12:105620400-105625400	Strong transcription	Primary T cells fromperipheralblood	blood
24	chr12:105620400-105625400	Weak transcription	Fetal Heart	heart
25	chr12:105620400-105626000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr12:105620400-105626600	Weak transcription	Psoas Muscle	Psoas
27	chr12:105620600-105625800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr12:105621200-105625200	Strong transcription	Primary B cells from peripheral blood	blood
29	chr12:105621200-105625800	Strong transcription	Primary B cells from cord blood	blood
30	chr12:105621200-105626200	Strong transcription	Monocytes-CD14+_RO01746	blood
31	chr12:105621600-105625200	Weak transcription	Ovary	ovary
32	chr12:105621600-105627200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr12:105621800-105625200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr12:105621800-105625400	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr12:105621800-105626400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr12:105621800-105626800	Enhancers	Brain Anterior Caudate	brain
37	chr12:105621800-105626800	Weak transcription	Fetal Kidney	kidney
38	chr12:105621800-105628600	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr12:105621800-105628600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr12:105622000-105625200	Weak transcription	Lung	lung
41	chr12:105622000-105627400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr12:105622000-105629000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr12:105622400-105626800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
44	chr12:105622400-105628400	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr12:105622600-105625200	Weak transcription	Colonic Mucosa	Colon
46	chr12:105622600-105626800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
47	chr12:105622600-105627800	Weak transcription	HMEC	breast
48	chr12:105622800-105626800	Strong transcription	Primary T cells from cord blood	blood
49	chr12:105622800-105626800	Enhancers	Adipose Nuclei	Adipose
50	chr12:105622800-105628400	Weak transcription	HUES64 Cell Line	embryonic stem cell

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