Variant report

Variant	rs6535563
Chromosome Location	chr4:148737780-148737781
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:148735688..148738679-chr4:148741409..148744100,2	MCF-7	breast:
2	chr4:148731757..148733560-chr4:148736505..148738130,2	MCF-7	breast:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10519918	1.00[CHB][hapmap]
rs11723235	1.00[CHB][hapmap]
rs11725005	1.00[CHB][hapmap]
rs2118034	1.00[CHB][hapmap]
rs2358179	1.00[CHB][hapmap]
rs4527458	1.00[CHB][hapmap]
rs4835104	1.00[CHB][hapmap]
rs4835458	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs4835465	1.00[CHB][hapmap]
rs6535562	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs6813714	0.92[EUR][1000 genomes]
rs6824823	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs6853610	1.00[CHB][hapmap]
rs6856071	1.00[CHB][hapmap]
rs7435763	1.00[CHB][hapmap]
rs7654818	1.00[CHB][hapmap]
rs7660688	1.00[CHB][hapmap]
rs7660941	0.92[EUR][1000 genomes]
rs7661267	1.00[CHB][hapmap]

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	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
3	nsv880243	chr4:148735644-148879583	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	esv3362534	chr4:148737276-148737830	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:148721800-148744200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr4:148729400-148742200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr4:148730000-148742200	Weak transcription	HSMM	muscle
4	chr4:148732200-148738800	Enhancers	Ovary	ovary
5	chr4:148732400-148738000	Enhancers	Psoas Muscle	Psoas
6	chr4:148732600-148742200	Weak transcription	GM12878-XiMat	blood
7	chr4:148732600-148744000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr4:148733000-148739400	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr4:148733200-148742400	Weak transcription	Fetal Intestine Small	intestine
10	chr4:148733400-148738800	Enhancers	Rectal Smooth Muscle	rectum
11	chr4:148734000-148742800	Weak transcription	Fetal Lung	lung
12	chr4:148734200-148738000	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr4:148734600-148761000	Weak transcription	Fetal Kidney	kidney
14	chr4:148734800-148742000	Weak transcription	Fetal Muscle Trunk	muscle
15	chr4:148735000-148739000	Enhancers	Stomach Smooth Muscle	stomach
16	chr4:148735000-148739200	Enhancers	Colon Smooth Muscle	Colon
17	chr4:148735000-148739200	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr4:148735000-148741200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr4:148735200-148737800	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr4:148735400-148739200	Enhancers	Skeletal Muscle Male	skeletal muscle
21	chr4:148735400-148742200	Weak transcription	NHLF	lung
22	chr4:148735800-148741400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr4:148735800-148742800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr4:148736200-148737800	Enhancers	Primary T cells fromperipheralblood	blood
25	chr4:148736200-148737800	Enhancers	Left Ventricle	heart
26	chr4:148736200-148739200	Enhancers	Aorta	Aorta
27	chr4:148736200-148741200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr4:148736200-148742200	Weak transcription	HSMMtube	muscle
29	chr4:148736400-148737800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
30	chr4:148736400-148737800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
31	chr4:148736400-148741200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr4:148736400-148741800	Weak transcription	HMEC	breast
33	chr4:148736400-148742000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr4:148736600-148737800	Enhancers	Fetal Thymus	thymus
35	chr4:148736600-148739000	Enhancers	Adipose Nuclei	Adipose
36	chr4:148736600-148742000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr4:148736800-148737800	Enhancers	Thymus	Thymus
38	chr4:148736800-148737800	Enhancers	Spleen	Spleen
39	chr4:148736800-148739000	Enhancers	Duodenum Smooth Muscle	Duodenum
40	chr4:148737000-148739800	Enhancers	Fetal Heart	heart
41	chr4:148737000-148747200	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr4:148737200-148737800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr4:148737200-148738000	Enhancers	Pancreas	Pancrea
44	chr4:148737200-148738200	Enhancers	Fetal Muscle Leg	muscle
45	chr4:148737200-148738800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr4:148737200-148758200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr4:148737400-148737800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr4:148737400-148737800	Enhancers	Fetal Stomach	stomach
49	chr4:148737400-148738200	Enhancers	Brain Anterior Caudate	brain
50	chr4:148737400-148742200	Weak transcription	Esophagus	oesophagus

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