Variant report

Variant	rs7520993
Chromosome Location	chr1:85828090-85828091
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:85827968..85830581-chr1:85830852..85832881,2	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11582061	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11588128	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12564550	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12564698	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12568573	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17127199	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2284800	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2935	0.91[ASN][1000 genomes]
rs3813600	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56215900	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs67644506	0.88[ASN][1000 genomes]
rs72722665	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72722677	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72724632	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	esv34165	chr1:85542040-85846249	Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv830470	chr1:85820775-86014080	Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85809200-85838400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:85809600-85828800	Weak transcription	Brain Anterior Caudate	brain
3	chr1:85814200-85839600	Weak transcription	Left Ventricle	heart
4	chr1:85816000-85831400	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr1:85816000-85839600	Weak transcription	Pancreas	Pancrea
6	chr1:85816400-85829000	Weak transcription	Stomach Smooth Muscle	stomach
7	chr1:85816600-85836800	Weak transcription	Fetal Muscle Trunk	muscle
8	chr1:85823200-85836800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr1:85824400-85833800	Weak transcription	Fetal Intestine Small	intestine
10	chr1:85824600-85829600	Enhancers	NHLF	lung
11	chr1:85824800-85828400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr1:85825000-85839000	Weak transcription	Aorta	Aorta
13	chr1:85825200-85828800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr1:85825200-85828800	Weak transcription	Psoas Muscle	Psoas
15	chr1:85825200-85830400	Enhancers	Osteobl	bone
16	chr1:85825400-85829600	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr1:85825600-85829600	Enhancers	Fetal Lung	lung
18	chr1:85825800-85829000	Enhancers	HSMM	muscle
19	chr1:85826200-85832000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr1:85826200-85838800	Weak transcription	Hela-S3	cervix
21	chr1:85826400-85831200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr1:85826800-85829000	Weak transcription	Fetal Brain Female	brain
23	chr1:85826800-85829600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr1:85826800-85829800	Enhancers	Fetal Stomach	stomach
25	chr1:85826800-85830000	Enhancers	Muscle Satellite Cultured Cells	--
26	chr1:85826800-85831000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr1:85827000-85828200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr1:85827000-85833800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr1:85827000-85834600	Enhancers	NHDF-Ad	bronchial
30	chr1:85827000-85837800	Weak transcription	Rectal Smooth Muscle	rectum
31	chr1:85827200-85828800	Weak transcription	Fetal Muscle Leg	muscle
32	chr1:85827200-85831400	Weak transcription	Ovary	ovary
33	chr1:85827200-85831400	Weak transcription	HUVEC	blood vessel
34	chr1:85827200-85832200	Weak transcription	HMEC	breast
35	chr1:85827200-85836800	Weak transcription	Adipose Nuclei	Adipose
36	chr1:85827200-85839000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr1:85827400-85828800	Weak transcription	Liver	Liver
38	chr1:85827400-85830000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr1:85827400-85839400	Weak transcription	Fetal Intestine Large	intestine
40	chr1:85827600-85828800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr1:85827600-85829000	Weak transcription	Fetal Kidney	kidney
42	chr1:85827600-85829000	Weak transcription	A549	lung
43	chr1:85827600-85829000	Weak transcription	HSMMtube	muscle
44	chr1:85827600-85831200	Weak transcription	Small Intestine	intestine
45	chr1:85827600-85831600	Weak transcription	NH-A	brain
46	chr1:85827600-85836800	Weak transcription	HepG2	liver
47	chr1:85827800-85832000	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr1:85828000-85828200	Enhancers	Breast Myoepithelial Primary Cells	Breast
49	chr1:85828000-85828200	Enhancers	Brain Cingulate Gyrus	brain
50	chr1:85828000-85829400	Enhancers	Fetal Brain Male	brain

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