Variant report

Variant	rs9658595
Chromosome Location	chr1:86051247-86051248
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:85957596..85960543-chr1:86049198..86051756,2	K562	blood:
2	chr1:86045233..86051336-chr1:86057804..86069814,19	K562	blood:
3	chr1:86043660..86051626-chr1:86167839..86177430,17	K562	blood:
4	chr1:85931646..85934591-chr1:86050681..86053602,2	MCF-7	breast:
5	chr1:86049707..86051912-chr1:86063181..86065060,2	MCF-7	breast:
6	chr1:86049608..86052158-chr1:86093207..86095698,2	MCF-7	breast:
7	chr1:86050411..86052188-chr1:86071339..86074227,2	MCF-7	breast:
8	chr1:86048276..86051402-chr1:86117655..86121071,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000230285	Chromatin interaction
ENSG00000199934	Chromatin interaction
ENSG00000273264	Chromatin interaction
ENSG00000117174	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10873710	0.91[YRI][hapmap]
rs1116746	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs11578464	0.91[YRI][hapmap]
rs12120700	0.95[CEU][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2389969	0.94[CEU][hapmap];0.91[YRI][hapmap];0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3753794	0.82[EUR][1000 genomes]
rs4370804	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4949896	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4949910	0.98[ASN][1000 genomes]
rs4949911	0.94[CEU][hapmap];0.91[YRI][hapmap];0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4949912	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4949914	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]

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	nsv1006994	chr1:85454304-86327679	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	esv3391173	chr1:86005637-86337469	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 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	chr1:86048400-86052000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr1:86048600-86053400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr1:86048800-86053600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr1:86048800-86081200	Weak transcription	Gastric	stomach
5	chr1:86049000-86052200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr1:86049000-86052200	Weak transcription	Pancreas	Pancrea
7	chr1:86049000-86053600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr1:86049000-86053600	Weak transcription	Fetal Intestine Small	intestine
9	chr1:86049000-86068400	Weak transcription	Psoas Muscle	Psoas
10	chr1:86049200-86051600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr1:86049200-86053200	Weak transcription	Left Ventricle	heart
12	chr1:86049200-86053600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr1:86049400-86053200	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr1:86049400-86053600	Weak transcription	Fetal Muscle Trunk	muscle
15	chr1:86049400-86053600	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr1:86049600-86051600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr1:86050000-86051800	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr1:86050000-86051800	Enhancers	HMEC	breast
19	chr1:86050200-86052000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr1:86050200-86052000	Enhancers	Fetal Heart	heart
21	chr1:86050200-86053400	Weak transcription	Stomach Smooth Muscle	stomach
22	chr1:86050200-86053600	Weak transcription	Adipose Nuclei	Adipose
23	chr1:86050200-86053600	Weak transcription	Fetal Muscle Leg	muscle
24	chr1:86050400-86051400	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr1:86050400-86052000	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr1:86050600-86052000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr1:86050600-86053400	Weak transcription	Colon Smooth Muscle	Colon
28	chr1:86050600-86053600	Weak transcription	Rectal Smooth Muscle	rectum
29	chr1:86050600-86054800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr1:86050800-86051800	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr1:86050800-86051800	Enhancers	A549	lung
32	chr1:86050800-86052000	Enhancers	iPS-20b Cell Line	embryonic stem cell
33	chr1:86050800-86052000	Enhancers	HSMMtube	muscle
34	chr1:86050800-86052000	Enhancers	NHLF	lung
35	chr1:86050800-86053600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr1:86050800-86053600	Weak transcription	Fetal Stomach	stomach
37	chr1:86051000-86051400	Active TSS	Osteobl	bone
38	chr1:86051000-86051600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr1:86051000-86051600	Weak transcription	HSMM	muscle
40	chr1:86051000-86051800	Enhancers	NH-A	brain
41	chr1:86051000-86052200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr1:86051000-86052200	Enhancers	NHDF-Ad	bronchial
43	chr1:86051000-86053200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr1:86051000-86053200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr1:86051000-86053400	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr1:86051000-86053600	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr1:86051000-86053600	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr1:86051000-86053600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr1:86051000-86053600	Weak transcription	Fetal Lung	lung
50	chr1:86051000-86062800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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