Variant report

Variant	rs11900127
Chromosome Location	chr2:20526785-20526786
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:20523318..20529381-chr2:20544822..20552572,11	K562	blood:
2	chr2:20525204..20529381-chr2:20546645..20551782,7	K562	blood:

Variant related genes	Relation type
ENSG00000055917	Chromatin interaction

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10175853	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10187080	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10192042	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10206974	0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs1043400	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10460445	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10460449	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10460450	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10460451	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10856797	0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs11096654	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11096659	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11888357	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11895228	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11896241	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11898408	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11902769	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11903745	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12465832	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12472685	0.88[ASN][1000 genomes]
rs12473500	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12474897	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12478265	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13393733	0.88[ASN][1000 genomes]
rs17612703	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2072464	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2080190	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2348703	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2820	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs34678899	0.87[ASN][1000 genomes]
rs3796066	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3821218	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62123442	0.88[ASN][1000 genomes]
rs6748274	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72785217	0.89[ASN][1000 genomes]
rs72785218	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72785278	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72785282	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72785295	0.81[EUR][1000 genomes]
rs72785297	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72785298	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72785300	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72785301	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72787406	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72787409	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72787411	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72787415	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72787433	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72787499	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72787500	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72787501	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72788905	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72788906	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs741188	0.80[EUR][1000 genomes]
rs7558385	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7558833	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7563245	0.82[ASN][1000 genomes]
rs7579571	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7582642	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7595266	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9306890	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9306891	0.88[AMR][1000 genomes];0.84[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:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:20460200-20528600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:20466000-20530400	Strong transcription	Fetal Thymus	thymus
3	chr2:20471800-20533800	Strong transcription	Dnd41	blood
4	chr2:20474600-20528600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr2:20499200-20527600	Weak transcription	Small Intestine	intestine
6	chr2:20503000-20534600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr2:20507800-20527600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr2:20513800-20533000	Weak transcription	Right Ventricle	heart
9	chr2:20515200-20526800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr2:20515200-20527600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr2:20516800-20529600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr2:20516800-20536000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr2:20517800-20527000	Strong transcription	Primary B cells from peripheral blood	blood
14	chr2:20517800-20527200	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr2:20517800-20527600	Weak transcription	Pancreas	Pancrea
16	chr2:20517800-20530000	Weak transcription	Brain Cingulate Gyrus	brain
17	chr2:20517800-20530000	Weak transcription	Brain Substantia Nigra	brain
18	chr2:20517800-20533000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr2:20518000-20529200	Weak transcription	Brain Hippocampus Middle	brain
20	chr2:20518000-20534400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr2:20518200-20527400	Weak transcription	Esophagus	oesophagus
22	chr2:20518200-20530200	Weak transcription	Spleen	Spleen
23	chr2:20518400-20527200	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr2:20518400-20527400	Weak transcription	HSMMtube	muscle
25	chr2:20518400-20530400	Weak transcription	Psoas Muscle	Psoas
26	chr2:20518600-20530200	Weak transcription	Stomach Smooth Muscle	stomach
27	chr2:20519200-20530200	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr2:20519600-20528200	Weak transcription	Fetal Brain Female	brain
29	chr2:20521400-20534600	Weak transcription	Stomach Mucosa	stomach
30	chr2:20521800-20527200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
31	chr2:20522200-20526800	Strong transcription	HUES6 Cell Line	embryonic stem cell
32	chr2:20522600-20527600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr2:20522600-20530400	Weak transcription	Left Ventricle	heart
34	chr2:20522600-20530600	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr2:20522600-20532400	Weak transcription	Colonic Mucosa	Colon
36	chr2:20522800-20527400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr2:20522800-20528600	Weak transcription	Brain Germinal Matrix	brain
38	chr2:20522800-20530600	Weak transcription	Fetal Brain Male	brain
39	chr2:20522800-20530800	Weak transcription	Fetal Heart	heart
40	chr2:20522800-20537400	Weak transcription	NHLF	lung
41	chr2:20523000-20527000	Strong transcription	Monocytes-CD14+_RO01746	blood
42	chr2:20523000-20527400	Weak transcription	Ovary	ovary
43	chr2:20523000-20527600	Weak transcription	Gastric	stomach
44	chr2:20523000-20530400	Weak transcription	Thymus	Thymus
45	chr2:20523000-20536000	Weak transcription	HMEC	breast
46	chr2:20523000-20547600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr2:20523200-20527000	Weak transcription	Fetal Intestine Small	intestine
48	chr2:20523200-20527200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr2:20523200-20528600	Weak transcription	Fetal Stomach	stomach
50	chr2:20523200-20533000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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