Variant report

Variant	rs10049438
Chromosome Location	chr3:133294203-133294204
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:38737416..38739692-chr3:133291408..133294289,2	MCF-7	breast:
2	chr3:132440102..132442906-chr3:133291126..133294877,5	K562	blood:
3	chr3:133169398..133190840-chr3:133288286..133298861,41	MCF-7	breast:
4	chr3:133293596..133295529-chr3:133326380..133328140,2	MCF-7	breast:
5	chr3:133207094..133210649-chr3:133290648..133294454,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000113971	Chromatin interaction
ENSG00000157540	Chromatin interaction
ENSG00000214301	Chromatin interaction
ENSG00000273210	Chromatin interaction
ENSG00000248724	Chromatin interaction
ENSG00000163781	Chromatin interaction
ENSG00000249993	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1073196	0.95[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];0.89[ASN][1000 genomes]
rs10935069	0.84[CHB][hapmap]
rs12637437	0.84[CHB][hapmap]
rs13088006	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16840524	0.84[CHB][hapmap]
rs3821508	0.82[CHD][hapmap];0.95[JPT][hapmap]
rs4854586	0.89[ASN][1000 genomes]
rs4854587	0.88[ASN][1000 genomes]
rs4854735	0.86[ASN][1000 genomes]
rs58195246	0.88[ASN][1000 genomes]
rs59804735	0.88[ASN][1000 genomes]
rs60251264	0.88[ASN][1000 genomes]
rs6781238	0.81[CHB][hapmap];0.82[CHD][hapmap];0.89[JPT][hapmap]
rs6802296	0.84[CHB][hapmap]
rs72970169	0.89[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	esv3393233	chr3:133291062-133294360	Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	diseases
2	esv3331679	chr3:133291512-133294210	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	diseases
3	esv3423184	chr3:133291787-133294635	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	diseases
4	esv1800456	chr3:133292746-133294203	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Weak transcription Bivalent/Poised TSS Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10049438	SRPRB	cis	parietal	SCAN

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:133291600-133294400	Active TSS	Duodenum Smooth Muscle	Duodenum
2	chr3:133291600-133295000	Active TSS	Colonic Mucosa	Colon
3	chr3:133291600-133295000	Active TSS	Right Atrium	heart
4	chr3:133291800-133294800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr3:133291800-133295000	Active TSS	Left Ventricle	heart
6	chr3:133291800-133295400	Active TSS	Aorta	Aorta
7	chr3:133292000-133294400	Active TSS	H9 Cell Line	embryonic stem cell
8	chr3:133292000-133294800	Active TSS	Fetal Intestine Large	intestine
9	chr3:133292000-133294800	Active TSS	Fetal Intestine Small	intestine
10	chr3:133292000-133295000	Active TSS	NHLF	lung
11	chr3:133292200-133294400	Active TSS	Primary T helper cells PMA-I stimulated	--
12	chr3:133292400-133294800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
13	chr3:133292400-133295000	Active TSS	Sigmoid Colon	Sigmoid Colon
14	chr3:133292400-133295200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr3:133293200-133295600	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
16	chr3:133293200-133296000	Transcr. at gene 5' and 3'	Primary T regulatory cells fromperipheralblood	blood
17	chr3:133293400-133294800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr3:133293400-133295400	Transcr. at gene 5' and 3'	Dnd41	blood
19	chr3:133293400-133295600	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
20	chr3:133293400-133295600	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
21	chr3:133293600-133294400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
22	chr3:133293600-133294400	Flanking Active TSS	Brain Anterior Caudate	brain
23	chr3:133293600-133294400	Flanking Active TSS	Brain Cingulate Gyrus	brain
24	chr3:133293600-133294400	Transcr. at gene 5' and 3'	Colon Smooth Muscle	Colon
25	chr3:133293600-133294600	Flanking Active TSS	Primary hematopoietic stem cells	blood
26	chr3:133293600-133294600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr3:133293600-133294600	Flanking Active TSS	Fetal Brain Female	brain
28	chr3:133293600-133294800	Flanking Active TSS	Liver	Liver
29	chr3:133293600-133295200	Transcr. at gene 5' and 3'	NHDF-Ad	bronchial
30	chr3:133293600-133295400	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
31	chr3:133293600-133295400	Transcr. at gene 5' and 3'	Skeletal Muscle Female	skeletal muscle
32	chr3:133293600-133295600	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr3:133293600-133295600	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
34	chr3:133293600-133295600	Transcr. at gene 5' and 3'	NHEK	skin
35	chr3:133293600-133297600	Transcr. at gene 5' and 3'	HSMM	muscle
36	chr3:133293600-133298400	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
37	chr3:133293800-133294400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
38	chr3:133293800-133294400	Flanking Active TSS	Brain Angular Gyrus	brain
39	chr3:133293800-133294400	Flanking Active TSS	Fetal Stomach	stomach
40	chr3:133293800-133294400	Flanking Active TSS	Rectal Smooth Muscle	rectum
41	chr3:133293800-133294600	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr3:133293800-133294600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
43	chr3:133293800-133294600	Flanking Active TSS	Stomach Smooth Muscle	stomach
44	chr3:133293800-133294800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr3:133293800-133294800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
46	chr3:133293800-133295000	Flanking Active TSS	Primary T cells from cord blood	blood
47	chr3:133293800-133295200	Transcr. at gene 5' and 3'	A549	lung
48	chr3:133293800-133295400	Transcr. at gene 5' and 3'	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr3:133293800-133295400	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr3:133293800-133295400	Transcr. at gene 5' and 3'	Fetal Muscle Leg	muscle

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