Variant report

Variant	rs596817
Chromosome Location	chr1:93481832-93481833
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:93458381..93461372-chr1:93479810..93482559,2	MCF-7	breast:
2	chr1:93331676..93334164-chr1:93480401..93483353,2	K562	blood:

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10747455	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1764470	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2492900	1.00[AMR][1000 genomes]
rs2815405	1.00[AMR][1000 genomes]
rs4345812	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4361994	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4366327	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4367789	1.00[AMR][1000 genomes]
rs4436402	1.00[AMR][1000 genomes]
rs4466666	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4491068	1.00[AMR][1000 genomes]
rs473946	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4847228	1.00[AMR][1000 genomes]
rs508180	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs508787	1.00[AMR][1000 genomes]
rs521360	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs537410	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs541676	1.00[AMR][1000 genomes]
rs545357	1.00[AMR][1000 genomes]
rs559455	1.00[AMR][1000 genomes]
rs559595	1.00[AMR][1000 genomes]
rs574550	1.00[AMR][1000 genomes]
rs587589	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs593214	1.00[AMR][1000 genomes]
rs595783	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs614073	1.00[AMR][1000 genomes]
rs617683	1.00[AMR][1000 genomes]
rs634127	1.00[AMR][1000 genomes]
rs640481	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs644020	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6604036	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs662881	1.00[AMR][1000 genomes]
rs6661632	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6690825	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs674982	1.00[AMR][1000 genomes]
rs678537	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs770880	1.00[AMR][1000 genomes]
rs811286	1.00[AFR][1000 genomes];1.00[AMR][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	nsv1008602	chr1:93176811-93640808	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv830614	chr1:93465978-93678700	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv870775	chr1:93481640-93543119	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:93474200-93490600	Weak transcription	K562	blood
2	chr1:93478200-93482600	Enhancers	Fetal Muscle Leg	muscle
3	chr1:93478800-93482400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr1:93478800-93482400	Enhancers	HSMMtube	muscle
5	chr1:93479000-93482200	Enhancers	HSMM	muscle
6	chr1:93479600-93482200	Enhancers	HUVEC	blood vessel
7	chr1:93480400-93491000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr1:93480800-93482000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr1:93480800-93482000	Enhancers	Small Intestine	intestine
10	chr1:93480800-93482400	Enhancers	NHDF-Ad	bronchial
11	chr1:93481000-93482000	Enhancers	Fetal Heart	heart
12	chr1:93481000-93482200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr1:93481000-93482400	Enhancers	Hela-S3	cervix
14	chr1:93481200-93482000	Enhancers	NHEK	skin
15	chr1:93481200-93482400	Enhancers	Adipose Nuclei	Adipose
16	chr1:93481400-93482000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
17	chr1:93481400-93482000	Flanking Active TSS	A549	lung
18	chr1:93481400-93482200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr1:93481400-93482200	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr1:93481400-93482200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr1:93481400-93482200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr1:93481400-93482200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr1:93481400-93482200	Enhancers	Colon Smooth Muscle	Colon
24	chr1:93481400-93482200	Enhancers	Duodenum Smooth Muscle	Duodenum
25	chr1:93481400-93482200	Enhancers	Rectal Smooth Muscle	rectum
26	chr1:93481400-93482200	Enhancers	NH-A	brain
27	chr1:93481400-93482400	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr1:93481400-93482400	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr1:93481400-93482400	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr1:93481400-93482400	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr1:93481400-93482400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr1:93481400-93482400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
33	chr1:93481600-93482000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
34	chr1:93481600-93482200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
35	chr1:93481600-93482400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr1:93481600-93482400	Enhancers	Liver	Liver
37	chr1:93481600-93482600	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr1:93481800-93482000	Flanking Active TSS	HepG2	liver
39	chr1:93481800-93482200	Enhancers	H1 Cell Line	embryonic stem cell
40	chr1:93481800-93482200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr1:93481800-93482200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr1:93481800-93482200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr1:93481800-93482200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr1:93481800-93482200	Enhancers	Fetal Intestine Large	intestine
45	chr1:93481800-93482200	Enhancers	Placenta	Placenta
46	chr1:93481800-93482200	Enhancers	Right Atrium	heart
47	chr1:93481800-93482200	Enhancers	NHLF	lung
48	chr1:93481800-93482200	Enhancers	Osteobl	bone
49	chr1:93481800-93482400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr1:93481800-93482400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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