Variant report

Variant	rs11634204
Chromosome Location	chr15:93505390-93505391
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:93503187..93507973-chr15:93511810..93515580,5	K562	blood:
2	chr15:93500970..93503092-chr15:93504292..93507134,2	MCF-7	breast:
3	chr15:93446075..93450241-chr15:93504408..93507692,3	K562	blood:
4	chr15:93504557..93506512-chr15:93511692..93514285,2	K562	blood:

Variant related genes	Relation type
ENSG00000264173	Chromatin interaction
ENSG00000173575	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10520717	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10520719	0.91[CHB][hapmap];0.93[JPT][hapmap];0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs1074513	0.87[JPT][hapmap]
rs11074127	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11630052	0.82[AMR][1000 genomes]
rs11630582	1.00[CHB][hapmap];0.93[JPT][hapmap];0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs11631553	0.86[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs11632522	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11634207	1.00[CHB][hapmap];0.93[JPT][hapmap];0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs11634566	0.81[JPT][hapmap]
rs11637047	0.83[AMR][1000 genomes]
rs11637185	0.88[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs11857145	1.00[CHB][hapmap];0.86[JPT][hapmap];0.86[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12438635	0.81[JPT][hapmap]
rs12594991	0.90[CHB][hapmap];0.81[JPT][hapmap];0.81[ASN][1000 genomes]
rs12901950	0.86[JPT][hapmap];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12904680	0.86[JPT][hapmap];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12906132	1.00[CHB][hapmap];0.93[JPT][hapmap];0.85[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12907579	1.00[CHB][hapmap];0.93[JPT][hapmap];0.86[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs12909677	0.87[JPT][hapmap]
rs12915072	0.87[AMR][1000 genomes]
rs12916015	0.86[JPT][hapmap];0.80[AMR][1000 genomes]
rs1534779	1.00[CHB][hapmap];0.93[JPT][hapmap];0.85[AMR][1000 genomes]
rs17525800	1.00[CHB][hapmap];0.93[JPT][hapmap];0.85[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2033844	1.00[CHB][hapmap];0.93[JPT][hapmap];0.85[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2119010	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2272457	1.00[CHB][hapmap];0.93[JPT][hapmap];0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2272459	0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs28540863	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs28668136	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34026217	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs34234400	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs34266454	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs34498571	0.87[AMR][1000 genomes]
rs35327372	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35477598	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35596808	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs36048863	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3784786	1.00[CHB][hapmap];0.93[JPT][hapmap];0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs3817597	1.00[CHB][hapmap];0.87[JPT][hapmap];0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs3826035	0.87[JPT][hapmap]
rs4778062	0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs4778065	1.00[CHB][hapmap];0.92[JPT][hapmap];0.85[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs4778067	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs56358327	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs66726419	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs67190144	0.84[AMR][1000 genomes]
rs72761955	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948738	chr15:93070742-93728147	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	169 gene(s)	inside rSNPs	diseases
2	nsv1049490	chr15:93134405-93591660	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS 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 miRNA target site	151 gene(s)	inside rSNPs	diseases
3	nsv530846	chr15:93323949-94030462	Active TSS Strong transcription Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	153 gene(s)	inside rSNPs	diseases
4	nsv948881	chr15:93383740-93603608	Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
5	nsv530847	chr15:93444024-93555676	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS 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 miRNA	40 gene(s)	inside rSNPs	diseases
6	nsv917347	chr15:93444094-93586814	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	39 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11634204	CHD2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:93493000-93508600	Strong transcription	Hela-S3	cervix
2	chr15:93493200-93508200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr15:93493200-93512200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr15:93493200-93533000	Strong transcription	Cortex derived primary cultured neurospheres	brain
5	chr15:93493200-93536000	Strong transcription	HSMM	muscle
6	chr15:93493200-93571000	Strong transcription	Dnd41	blood
7	chr15:93493200-93571200	Strong transcription	Rectal Mucosa Donor 29	rectum
8	chr15:93493400-93505800	Strong transcription	Fetal Lung	lung
9	chr15:93493400-93508200	Strong transcription	Primary B cells from cord blood	blood
10	chr15:93493400-93508400	Strong transcription	Duodenum Smooth Muscle	Duodenum
11	chr15:93493400-93511800	Strong transcription	Adipose Nuclei	Adipose
12	chr15:93493400-93511800	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr15:93493400-93548000	Strong transcription	Muscle Satellite Cultured Cells	--
14	chr15:93493400-93568600	Strong transcription	Liver	Liver
15	chr15:93493400-93569600	Strong transcription	Placenta	Placenta
16	chr15:93493400-93571000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr15:93493400-93571000	Strong transcription	Rectal Mucosa Donor 31	rectum
18	chr15:93493600-93510600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr15:93493600-93521600	Strong transcription	Osteobl	bone
20	chr15:93493600-93523400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr15:93493600-93571400	Strong transcription	HUES6 Cell Line	embryonic stem cell
22	chr15:93493800-93508200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr15:93493800-93508200	Strong transcription	Duodenum Mucosa	Duodenum
24	chr15:93493800-93522400	Strong transcription	Primary B cells from peripheral blood	blood
25	chr15:93493800-93532600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr15:93493800-93561400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr15:93493800-93571400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
28	chr15:93494000-93505600	Strong transcription	GM12878-XiMat	blood
29	chr15:93494000-93508200	Strong transcription	Fetal Intestine Large	intestine
30	chr15:93494000-93508200	Strong transcription	NHEK	skin
31	chr15:93494000-93508600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr15:93494000-93512400	Strong transcription	Primary T cells fromperipheralblood	blood
33	chr15:93494000-93512600	Weak transcription	Aorta	Aorta
34	chr15:93494000-93520800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr15:93494000-93568200	Strong transcription	Fetal Thymus	thymus
36	chr15:93494000-93570400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
37	chr15:93494000-93570800	Strong transcription	HUES64 Cell Line	embryonic stem cell
38	chr15:93494000-93571000	Strong transcription	HUES48 Cell Line	embryonic stem cell
39	chr15:93494000-93571400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr15:93494200-93505400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
41	chr15:93494200-93505600	Strong transcription	A549	lung
42	chr15:93494200-93506200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr15:93494200-93512400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr15:93494400-93540600	Strong transcription	Primary T cells from cord blood	blood
45	chr15:93495000-93524800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr15:93495200-93508000	Strong transcription	HUVEC	blood vessel
47	chr15:93496600-93525800	Weak transcription	Stomach Mucosa	stomach
48	chr15:93497600-93517800	Weak transcription	Esophagus	oesophagus
49	chr15:93498800-93507400	Genic enhancers	Primary T helper cells PMA-I stimulated	--
50	chr15:93499400-93505400	Weak transcription	Fetal Brain Male	brain

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