Variant report

Variant	rs60986131
Chromosome Location	chr1:93562558-93562559
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:93561194..93562759-chr1:93579663..93581219,2	K562	blood:
2	chr1:93562093..93564455-chr1:93570200..93572594,2	MCF-7	breast:
3	chr1:93543191..93547486-chr1:93556671..93562707,7	K562	blood:
4	chr1:93562038..93564841-chr1:93643723..93646566,3	K562	blood:

Variant related genes	Relation type
ENSG00000117500	Chromatin interaction
ENSG00000143033	Chromatin interaction
ENSG00000122483	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11164834	1.00[EUR][1000 genomes]
rs11799875	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11800464	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11809347	1.00[EUR][1000 genomes]
rs12064459	1.00[EUR][1000 genomes]
rs12084062	1.00[EUR][1000 genomes]
rs12091803	1.00[EUR][1000 genomes]
rs35709587	1.00[EUR][1000 genomes]
rs56675391	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58042552	1.00[EUR][1000 genomes]
rs58518453	1.00[EUR][1000 genomes]
rs59504501	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60025932	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60807198	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6700752	1.00[EUR][1000 genomes]
rs72955313	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72955332	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72968072	1.00[EUR][1000 genomes]
rs72968080	1.00[EUR][1000 genomes]
rs72968097	1.00[EUR][1000 genomes]
rs72969937	1.00[EUR][1000 genomes]
rs72969957	1.00[EUR][1000 genomes]
rs72969976	1.00[EUR][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	nsv508404	chr1:93547383-93580012	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:93545800-93563200	Weak transcription	Esophagus	oesophagus
2	chr1:93545800-93568000	Weak transcription	Gastric	stomach
3	chr1:93545800-93578400	Weak transcription	Pancreas	Pancrea
4	chr1:93546000-93573000	Weak transcription	Placenta	Placenta
5	chr1:93546200-93563200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr1:93546200-93602200	Weak transcription	Aorta	Aorta
7	chr1:93546400-93563200	Weak transcription	Psoas Muscle	Psoas
8	chr1:93546400-93567200	Weak transcription	Right Atrium	heart
9	chr1:93546400-93569400	Weak transcription	Ovary	ovary
10	chr1:93547200-93576800	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr1:93547400-93581800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr1:93547600-93580600	Weak transcription	Adipose Nuclei	Adipose
13	chr1:93547600-93580600	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr1:93547600-93600000	Weak transcription	HSMMtube	muscle
15	chr1:93547800-93575400	Weak transcription	Hela-S3	cervix
16	chr1:93547800-93580600	Weak transcription	Fetal Kidney	kidney
17	chr1:93548000-93601800	Weak transcription	NHLF	lung
18	chr1:93548200-93576600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr1:93548200-93576600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr1:93548200-93576800	Weak transcription	Osteobl	bone
21	chr1:93548200-93578400	Weak transcription	Lung	lung
22	chr1:93548600-93569400	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr1:93548800-93581600	Weak transcription	Small Intestine	intestine
24	chr1:93549000-93576800	Weak transcription	Primary neutrophils fromperipheralblood	blood
25	chr1:93549000-93582400	Weak transcription	HMEC	breast
26	chr1:93549000-93582800	Weak transcription	NHEK	skin
27	chr1:93550600-93572600	Weak transcription	Fetal Muscle Leg	muscle
28	chr1:93551400-93563400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr1:93551400-93579800	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr1:93551600-93570800	Weak transcription	HUVEC	blood vessel
31	chr1:93551600-93571000	Weak transcription	Fetal Intestine Large	intestine
32	chr1:93551600-93573000	Weak transcription	Fetal Muscle Trunk	muscle
33	chr1:93551600-93578400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr1:93551800-93565800	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr1:93551800-93565800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr1:93551800-93569400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr1:93551800-93571200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr1:93551800-93572400	Weak transcription	Brain Germinal Matrix	brain
39	chr1:93551800-93572600	Weak transcription	Duodenum Mucosa	Duodenum
40	chr1:93551800-93576600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr1:93551800-93579800	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr1:93552000-93572600	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr1:93552000-93580000	Weak transcription	NH-A	brain
44	chr1:93552200-93573600	Weak transcription	Fetal Lung	lung
45	chr1:93552400-93569400	Weak transcription	Primary T cells fromperipheralblood	blood
46	chr1:93552600-93573000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr1:93552800-93569200	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr1:93553200-93567000	Weak transcription	Primary hematopoietic stem cells	blood
49	chr1:93553400-93564600	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr1:93553800-93564800	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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