Variant report

Variant	rs11133042
Chromosome Location	chr4:175427242-175427243
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1816204	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2555660	0.86[EUR][1000 genomes]
rs2612656	1.00[CEU][hapmap];0.81[GIH][hapmap];0.92[TSI][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2612694	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3846298	0.93[GIH][hapmap]
rs3857075	0.95[CEU][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6419992	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6835564	0.84[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs7685956	0.95[CEU][hapmap];0.83[GIH][hapmap];0.95[MEX][hapmap];0.92[TSI][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7691986	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7691993	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869116	chr4:175231090-175801761	Flanking Active TSS Enhancers Genic enhancers Weak transcription Bivalent/Poised TSS Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
2	nsv525487	chr4:175400104-175470867	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv880289	chr4:175412975-175437117	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11133042	HAND2	cis	parietal	SCAN

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:175396000-175442800	Weak transcription	Esophagus	oesophagus
2	chr4:175410000-175440800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr4:175410800-175430800	Weak transcription	Gastric	stomach
4	chr4:175410800-175440000	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr4:175412000-175428400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr4:175414400-175428200	Weak transcription	Stomach Smooth Muscle	stomach
7	chr4:175415600-175427600	Enhancers	Stomach Mucosa	stomach
8	chr4:175418000-175438600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr4:175418600-175437800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr4:175418800-175427400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr4:175418800-175435600	Weak transcription	Rectal Smooth Muscle	rectum
12	chr4:175419200-175438600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr4:175419400-175431000	Weak transcription	Colonic Mucosa	Colon
14	chr4:175420600-175441000	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr4:175421000-175428600	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr4:175421000-175428800	Weak transcription	Primary T cells from cord blood	blood
17	chr4:175421000-175439200	Weak transcription	Colon Smooth Muscle	Colon
18	chr4:175423800-175427600	Strong transcription	Fetal Thymus	thymus
19	chr4:175424000-175427600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr4:175424000-175429600	Strong transcription	Placenta	Placenta
21	chr4:175424600-175427400	Strong transcription	Primary hematopoietic stem cells	blood
22	chr4:175425000-175428800	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr4:175425200-175431800	Weak transcription	Fetal Intestine Small	intestine
24	chr4:175425800-175427400	Enhancers	Duodenum Mucosa	Duodenum
25	chr4:175425800-175429200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr4:175425800-175429400	Strong transcription	Fetal Intestine Large	intestine
27	chr4:175426000-175431600	Weak transcription	Fetal Stomach	stomach
28	chr4:175426200-175427400	Enhancers	Small Intestine	intestine
29	chr4:175426200-175427400	Genic enhancers	A549	lung
30	chr4:175426400-175427600	Enhancers	Liver	Liver
31	chr4:175426600-175427600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr4:175426800-175427400	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr4:175426800-175427400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr4:175426800-175427400	Enhancers	Lung	lung
35	chr4:175426800-175427600	Enhancers	NHEK	skin
36	chr4:175427000-175427400	Enhancers	Hela-S3	cervix
37	chr4:175427000-175427400	Enhancers	HMEC	breast
38	chr4:175427000-175427800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr4:175427000-175428000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr4:175427200-175427800	Enhancers	iPS-15b Cell Line	embryonic stem cell
41	chr4:175427200-175428000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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