Variant report

Variant	rs10929734
Chromosome Location	chr2:11514390-11514391
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:11508308..11513224-chr2:11514143..11518077,7	MCF-7	breast:
2	chr2:11503472..11505641-chr2:11513994..11516819,2	K562	blood:
3	chr2:11503850..11507049-chr2:11513264..11516627,3	MCF-7	breast:
4	chr2:11479515..11481764-chr2:11513114..11514767,2	MCF-7	breast:
5	chr2:11483150..11486998-chr2:11509500..11514812,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000230952	Chromatin interaction
ENSG00000134318	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10195908	0.83[ASN][1000 genomes]
rs10202323	0.87[CHD][hapmap];0.86[JPT][hapmap];0.83[ASN][1000 genomes]
rs11691232	0.84[EUR][1000 genomes]
rs12692438	0.83[CHB][hapmap];0.82[JPT][hapmap]
rs12692440	0.81[JPT][hapmap]
rs12692441	0.83[CHB][hapmap];0.86[JPT][hapmap]
rs12993210	0.82[JPT][hapmap]
rs4280434	1.00[ASW][hapmap];0.92[CEU][hapmap];0.89[CHD][hapmap];0.93[GIH][hapmap];0.90[JPT][hapmap];0.97[LWK][hapmap];0.95[MKK][hapmap];0.88[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs4668722	0.82[CHD][hapmap];0.86[JPT][hapmap]
rs4668723	1.00[ASW][hapmap];0.92[CEU][hapmap];0.82[CHD][hapmap];0.95[JPT][hapmap];0.94[LWK][hapmap];0.88[MKK][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs62118900	0.82[EUR][1000 genomes]
rs6432189	0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs6711409	0.88[CEU][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs6711414	0.87[CEU][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs6716724	0.87[CHD][hapmap];0.86[JPT][hapmap];0.83[ASN][1000 genomes]
rs6719739	0.83[ASN][1000 genomes]
rs6721881	0.88[CEU][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs7420679	0.83[ASN][1000 genomes]
rs7581765	0.86[EUR][1000 genomes]
rs7595700	0.82[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010506	chr2:11430965-12057286	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
2	nsv535585	chr2:11430965-12057286	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs10929734	IAH1	cis	cerebellum	SCAN
rs10929734	ROCK2	cis	parietal	SCAN
rs10929734	ROCK2	cis	cerebellum	SCAN
rs10929734	ROCK2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11505400-11514400	Enhancers	Fetal Intestine Large	intestine
2	chr2:11506000-11514600	Weak transcription	K562	blood
3	chr2:11507400-11516200	Enhancers	Stomach Mucosa	stomach
4	chr2:11508400-11514800	Weak transcription	Small Intestine	intestine
5	chr2:11508800-11514400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr2:11508800-11514600	Weak transcription	Brain Germinal Matrix	brain
7	chr2:11508800-11514600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr2:11508800-11514600	Weak transcription	Right Atrium	heart
9	chr2:11508800-11515000	Weak transcription	Aorta	Aorta
10	chr2:11509000-11514400	Weak transcription	Brain Anterior Caudate	brain
11	chr2:11509000-11514400	Weak transcription	Brain Hippocampus Middle	brain
12	chr2:11509000-11514400	Weak transcription	Brain Substantia Nigra	brain
13	chr2:11509200-11514400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr2:11509200-11514400	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr2:11509800-11514400	Weak transcription	Brain Cingulate Gyrus	brain
16	chr2:11509800-11514400	Weak transcription	Fetal Brain Male	brain
17	chr2:11510600-11514600	Enhancers	HMEC	breast
18	chr2:11510600-11515000	Enhancers	Fetal Muscle Trunk	muscle
19	chr2:11510800-11514600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr2:11510800-11514600	Enhancers	Fetal Muscle Leg	muscle
21	chr2:11511200-11514600	Weak transcription	Esophagus	oesophagus
22	chr2:11511200-11514600	Weak transcription	Fetal Thymus	thymus
23	chr2:11511400-11514600	Enhancers	Rectal Mucosa Donor 31	rectum
24	chr2:11511800-11514400	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr2:11511800-11514400	Enhancers	HepG2	liver
26	chr2:11511800-11514600	Weak transcription	Pancreas	Pancrea
27	chr2:11512000-11514400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr2:11512200-11514400	Weak transcription	Colonic Mucosa	Colon
29	chr2:11512200-11514400	Enhancers	Stomach Smooth Muscle	stomach
30	chr2:11512200-11518400	Enhancers	Fetal Intestine Small	intestine
31	chr2:11512400-11514400	Enhancers	Skeletal Muscle Female	skeletal muscle
32	chr2:11512600-11514400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr2:11512600-11514600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr2:11512800-11516200	Enhancers	Fetal Stomach	stomach
35	chr2:11513000-11514400	Enhancers	Colon Smooth Muscle	Colon
36	chr2:11513000-11514400	Weak transcription	Fetal Heart	heart
37	chr2:11513000-11514400	Enhancers	GM12878-XiMat	blood
38	chr2:11513000-11515600	Enhancers	Sigmoid Colon	Sigmoid Colon
39	chr2:11513200-11514400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr2:11513200-11514400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr2:11513200-11514400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr2:11513200-11514400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr2:11513200-11514400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr2:11513200-11514400	Enhancers	A549	lung
45	chr2:11513200-11514400	Enhancers	Hela-S3	cervix
46	chr2:11513200-11515600	Enhancers	Primary B cells from peripheral blood	blood
47	chr2:11513200-11518200	Enhancers	Fetal Lung	lung
48	chr2:11513400-11514400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr2:11513400-11514400	Enhancers	Adipose Nuclei	Adipose
50	chr2:11513400-11514400	Enhancers	Rectal Smooth Muscle	rectum

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