Variant report

Variant	rs9324149
Chromosome Location	chr1:86050570-86050571
allele	G/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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 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	chr1:86049707..86051912-chr1:86063181..86065060,2	MCF-7	breast:
5	chr1:85927983..85931587-chr1:86046693..86050651,4	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	chr1:86046116..86050935-chr1:86168336..86177340,12	K562	blood:
9	chr1:86048276..86051402-chr1:86117655..86121071,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000199934	Chromatin interaction
ENSG00000230285	Chromatin interaction
ENSG00000153904	Chromatin interaction
ENSG00000117174	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10157660	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10157673	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10157681	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10158005	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10158350	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56809993	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61370276	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7512436	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7514928	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7519002	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9324150	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9658583	1.00[AMR][1000 genomes]
rs9658594	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][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:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:86047600-86050600	Weak transcription	K562	blood
2	chr1:86048400-86052000	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr1:86048600-86050600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr1:86048600-86053400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr1:86048800-86050800	Enhancers	HepG2	liver
6	chr1:86048800-86051000	Weak transcription	Brain Anterior Caudate	brain
7	chr1:86048800-86053600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr1:86048800-86081200	Weak transcription	Gastric	stomach
9	chr1:86049000-86050600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr1:86049000-86050600	Enhancers	Rectal Smooth Muscle	rectum
11	chr1:86049000-86050800	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr1:86049000-86051000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr1:86049000-86052200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr1:86049000-86052200	Weak transcription	Pancreas	Pancrea
15	chr1:86049000-86053600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr1:86049000-86053600	Weak transcription	Fetal Intestine Small	intestine
17	chr1:86049000-86068400	Weak transcription	Psoas Muscle	Psoas
18	chr1:86049200-86050600	Enhancers	Colon Smooth Muscle	Colon
19	chr1:86049200-86050600	Enhancers	Hela-S3	cervix
20	chr1:86049200-86050800	Weak transcription	Liver	Liver
21	chr1:86049200-86050800	Active TSS	HSMM	muscle
22	chr1:86049200-86051000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr1:86049200-86051000	Active TSS	HUVEC	blood vessel
24	chr1:86049200-86051600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr1:86049200-86053200	Weak transcription	Left Ventricle	heart
26	chr1:86049200-86053600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr1:86049400-86050800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr1:86049400-86051000	Enhancers	NHEK	skin
29	chr1:86049400-86053200	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr1:86049400-86053600	Weak transcription	Fetal Muscle Trunk	muscle
31	chr1:86049400-86053600	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr1:86049600-86050600	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr1:86049600-86051000	Active TSS	NHDF-Ad	bronchial
34	chr1:86049600-86051600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr1:86049800-86050600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr1:86049800-86050600	Active TSS	Osteobl	bone
37	chr1:86049800-86050800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr1:86049800-86050800	Enhancers	Fetal Stomach	stomach
39	chr1:86049800-86050800	Active TSS	NHLF	lung
40	chr1:86049800-86051000	Enhancers	iPS-15b Cell Line	embryonic stem cell
41	chr1:86049800-86051000	Active TSS	Breast Myoepithelial Primary Cells	Breast
42	chr1:86049800-86051000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr1:86049800-86051000	Enhancers	Fetal Lung	lung
44	chr1:86049800-86051200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr1:86050000-86050600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr1:86050000-86050800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr1:86050000-86050800	Enhancers	Fetal Kidney	kidney
48	chr1:86050000-86050800	Flanking Active TSS	A549	lung
49	chr1:86050000-86051000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr1:86050000-86051000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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