Variant report

Variant	rs11935510
Chromosome Location	chr4:148733403-148733404
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:148604073..148606730-chr4:148732511..148734860,2	MCF-7	breast:
2	chr4:148733267..148735164-chr4:148738519..148740118,2	MCF-7	breast:
3	chr4:148731757..148733560-chr4:148736505..148738130,2	MCF-7	breast:
4	chr4:148733282..148735800-chr4:148746923..148749259,2	MCF-7	breast:
5	chr4:148652087..148654899-chr4:148732313..148734514,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000071205	Chromatin interaction
ENSG00000164169	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10001327	0.81[ASN][1000 genomes]
rs10005192	0.82[EUR][1000 genomes]
rs10018903	0.85[CEU][hapmap]
rs10029385	0.88[EUR][1000 genomes]
rs10519917	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11724795	0.82[CEU][hapmap]
rs11935450	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11935620	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11940379	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11944579	0.86[JPT][hapmap]
rs12641291	0.85[CEU][hapmap]
rs12650219	0.85[CEU][hapmap]
rs17023770	0.85[JPT][hapmap]
rs17023845	0.94[ASN][1000 genomes]
rs17023846	1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs17023870	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17023919	0.80[EUR][1000 genomes]
rs17023928	0.82[CEU][hapmap]
rs2043644	0.85[CEU][hapmap]
rs2134707	0.83[ASN][1000 genomes]
rs4240338	0.85[CEU][hapmap];0.90[EUR][1000 genomes]
rs4240339	0.85[CEU][hapmap];0.90[EUR][1000 genomes]
rs4419463	0.90[EUR][1000 genomes]
rs58068435	0.81[ASN][1000 genomes]
rs58274809	0.81[ASN][1000 genomes]
rs58762227	0.91[ASN][1000 genomes]
rs7655236	0.90[EUR][1000 genomes]
rs7683103	0.87[CEU][hapmap];0.82[EUR][1000 genomes]
rs893022	0.85[CEU][hapmap]
rs9995896	0.85[CEU][hapmap]
rs9996108	0.85[CEU][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	nsv1028958	chr4:148377752-148793485	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv498083	chr4:148519825-148917583	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:148715200-148735200	Weak transcription	Stomach Mucosa	stomach
2	chr4:148716000-148734800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr4:148721600-148734400	Weak transcription	Fetal Stomach	stomach
4	chr4:148721600-148737200	Weak transcription	Gastric	stomach
5	chr4:148721800-148735200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr4:148721800-148744200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr4:148729200-148734800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr4:148729400-148742200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr4:148729800-148733600	Weak transcription	NHDF-Ad	bronchial
10	chr4:148730000-148734400	Weak transcription	Osteobl	bone
11	chr4:148730000-148742200	Weak transcription	HSMM	muscle
12	chr4:148730200-148734000	Weak transcription	NHLF	lung
13	chr4:148730200-148734400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr4:148730200-148734400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr4:148730200-148734400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr4:148730200-148734400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr4:148730200-148737400	Weak transcription	Brain Anterior Caudate	brain
18	chr4:148730400-148734200	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr4:148730400-148734400	Weak transcription	Fetal Muscle Trunk	muscle
20	chr4:148730800-148734000	Weak transcription	HSMMtube	muscle
21	chr4:148731000-148733800	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr4:148731000-148736200	Weak transcription	Lung	lung
23	chr4:148731000-148736800	Weak transcription	Primary hematopoietic stem cells	blood
24	chr4:148731200-148735000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr4:148731200-148735200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr4:148731600-148735400	Enhancers	Left Ventricle	heart
27	chr4:148732000-148733800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr4:148732000-148734600	Enhancers	Skeletal Muscle Female	skeletal muscle
29	chr4:148732200-148733600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr4:148732200-148733600	Enhancers	Fetal Thymus	thymus
31	chr4:148732200-148738800	Enhancers	Ovary	ovary
32	chr4:148732400-148734000	Enhancers	Colon Smooth Muscle	Colon
33	chr4:148732400-148738000	Enhancers	Psoas Muscle	Psoas
34	chr4:148732600-148736800	Weak transcription	Spleen	Spleen
35	chr4:148732600-148742200	Weak transcription	GM12878-XiMat	blood
36	chr4:148732600-148744000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr4:148732800-148734600	Weak transcription	NHEK	skin
38	chr4:148732800-148735400	Enhancers	Fetal Heart	heart
39	chr4:148733000-148733600	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr4:148733000-148733600	Enhancers	HUES64 Cell Line	embryonic stem cell
41	chr4:148733000-148733600	Enhancers	Esophagus	oesophagus
42	chr4:148733000-148733600	Enhancers	Pancreas	Pancrea
43	chr4:148733000-148733800	Enhancers	Stomach Smooth Muscle	stomach
44	chr4:148733000-148735400	Enhancers	Right Atrium	heart
45	chr4:148733000-148739400	Enhancers	Breast Myoepithelial Primary Cells	Breast
46	chr4:148733200-148733600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr4:148733200-148735400	Enhancers	Aorta	Aorta
48	chr4:148733200-148736000	Enhancers	Duodenum Smooth Muscle	Duodenum
49	chr4:148733200-148736600	Weak transcription	Primary T cells from cord blood	blood
50	chr4:148733200-148742400	Weak transcription	Fetal Intestine Small	intestine

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