Variant report

Variant	rs10206974
Chromosome Location	chr2:20533917-20533918
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:20531227..20533989-chr2:20538784..20541462,3	K562	blood:
2	chr2:20532864..20537244-chr2:20546582..20551669,7	K562	blood:

Variant related genes	Relation type
ENSG00000055917	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10175853	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10187080	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10192042	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1043400	0.85[ASN][1000 genomes]
rs10460445	0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs10460449	0.81[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs10460450	0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs10460451	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10856797	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11096654	0.92[ASN][1000 genomes]
rs11888357	0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs11895228	0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs11896241	0.96[ASN][1000 genomes]
rs11898408	0.81[AMR][1000 genomes]
rs11900127	0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs11902769	0.83[ASN][1000 genomes]
rs11903745	0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12465832	0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12472685	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12473500	0.96[ASN][1000 genomes]
rs12474897	0.92[ASN][1000 genomes]
rs12478265	0.96[ASN][1000 genomes]
rs13393733	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17612703	0.93[ASN][1000 genomes]
rs2072464	0.85[ASN][1000 genomes]
rs2080190	0.81[AMR][1000 genomes]
rs2348703	0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs34678899	0.85[ASN][1000 genomes]
rs3796066	0.84[ASN][1000 genomes]
rs3821218	0.95[ASN][1000 genomes]
rs62123442	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6748274	0.96[ASN][1000 genomes]
rs72785217	0.85[ASN][1000 genomes]
rs72785218	0.85[ASN][1000 genomes]
rs72785278	0.85[ASN][1000 genomes]
rs72785282	0.84[ASN][1000 genomes]
rs72785297	0.85[ASN][1000 genomes]
rs72785298	0.85[ASN][1000 genomes]
rs72785300	0.85[ASN][1000 genomes]
rs72785301	0.85[ASN][1000 genomes]
rs72787406	0.93[ASN][1000 genomes]
rs72787409	0.93[ASN][1000 genomes]
rs72787411	0.95[ASN][1000 genomes]
rs72787415	0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs72787433	0.96[ASN][1000 genomes]
rs72787499	0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs72787501	0.81[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs72788905	0.81[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7558385	0.93[ASN][1000 genomes]
rs7558833	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7563245	0.81[ASN][1000 genomes]
rs7582642	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7595266	0.85[ASN][1000 genomes]
rs9306890	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9306891	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005366	chr2:20478859-20542134	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:20503000-20534600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:20516800-20536000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr2:20518000-20534400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr2:20521400-20534600	Weak transcription	Stomach Mucosa	stomach
5	chr2:20522800-20537400	Weak transcription	NHLF	lung
6	chr2:20523000-20536000	Weak transcription	HMEC	breast
7	chr2:20523000-20547600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr2:20523200-20536000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr2:20523200-20536000	Weak transcription	Lung	lung
10	chr2:20523600-20537000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr2:20524400-20546400	Weak transcription	NH-A	brain
12	chr2:20526000-20534600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr2:20526000-20544800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr2:20526400-20534200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr2:20526400-20534600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr2:20526600-20539400	Weak transcription	HSMM	muscle
17	chr2:20526800-20538200	Weak transcription	HUVEC	blood vessel
18	chr2:20527000-20535200	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr2:20527400-20534400	Weak transcription	Rectal Smooth Muscle	rectum
20	chr2:20527800-20534400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr2:20527800-20534600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr2:20527800-20544800	Weak transcription	Placenta	Placenta
23	chr2:20527800-20548200	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr2:20527800-20549200	Weak transcription	Aorta	Aorta
25	chr2:20528000-20534400	Weak transcription	Small Intestine	intestine
26	chr2:20528000-20534600	Weak transcription	Ovary	ovary
27	chr2:20528000-20536000	Weak transcription	Pancreas	Pancrea
28	chr2:20528200-20536000	Weak transcription	Esophagus	oesophagus
29	chr2:20528200-20546600	Weak transcription	Hela-S3	cervix
30	chr2:20528600-20536200	ZNF genes & repeats	GM12878-XiMat	blood
31	chr2:20528600-20546400	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr2:20529200-20536400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr2:20530400-20534600	Weak transcription	Osteobl	bone
34	chr2:20530600-20536000	Weak transcription	NHDF-Ad	bronchial
35	chr2:20530800-20534200	Weak transcription	Liver	Liver
36	chr2:20530800-20534400	Weak transcription	Brain Anterior Caudate	brain
37	chr2:20530800-20534400	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr2:20530800-20534400	Weak transcription	Fetal Lung	lung
39	chr2:20530800-20534600	Weak transcription	Brain Substantia Nigra	brain
40	chr2:20530800-20534600	Weak transcription	Spleen	Spleen
41	chr2:20530800-20535800	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr2:20530800-20540000	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr2:20530800-20546200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr2:20531000-20534200	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr2:20531000-20534400	Weak transcription	Brain Angular Gyrus	brain
46	chr2:20531000-20534600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr2:20531000-20534600	Weak transcription	Fetal Heart	heart
48	chr2:20531000-20534600	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr2:20531000-20535000	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr2:20531000-20535400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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