Variant report

Variant	rs1884597
Chromosome Location	chr20:16347642-16347643
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs12480677	0.82[JPT][hapmap]
rs12480966	0.86[CHB][hapmap]
rs1884600	0.87[JPT][hapmap]
rs2144892	0.85[JPT][hapmap]
rs2144893	0.89[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2144901	0.82[CHB][hapmap]
rs2180441	0.86[CHB][hapmap]
rs2876427	0.87[ASW][hapmap];0.85[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];0.93[MKK][hapmap];0.95[TSI][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3746783	0.82[CHD][hapmap]
rs4814480	0.87[CHB][hapmap];0.87[JPT][hapmap]
rs6034465	0.91[CHB][hapmap];0.82[JPT][hapmap]
rs6034467	0.87[JPT][hapmap]
rs6043891	0.81[CHB][hapmap]
rs6080222	0.81[CHD][hapmap]
rs6111072	0.91[CHB][hapmap];0.86[CHD][hapmap];0.86[JPT][hapmap];0.86[ASN][1000 genomes]
rs6111089	0.87[JPT][hapmap]
rs6111100	0.87[JPT][hapmap]
rs6131815	0.86[CHB][hapmap];0.86[JPT][hapmap];0.86[ASN][1000 genomes]
rs6135745	0.85[JPT][hapmap]
rs764467	0.81[CHB][hapmap]
rs8120605	0.84[CHD][hapmap]

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	nsv833931	chr20:16308276-16460596	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:16276400-16348200	Weak transcription	Colon Smooth Muscle	Colon
2	chr20:16289400-16348000	Weak transcription	Colonic Mucosa	Colon
3	chr20:16295600-16349000	Weak transcription	HepG2	liver
4	chr20:16315400-16348000	Weak transcription	Fetal Intestine Large	intestine
5	chr20:16315400-16364400	Weak transcription	Rectal Smooth Muscle	rectum
6	chr20:16315600-16348000	Weak transcription	Primary B cells from peripheral blood	blood
7	chr20:16315600-16348400	Weak transcription	Spleen	Spleen
8	chr20:16315800-16357600	Weak transcription	Right Ventricle	heart
9	chr20:16316000-16384400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr20:16318600-16348400	Weak transcription	Esophagus	oesophagus
11	chr20:16318800-16368200	Weak transcription	Primary B cells from cord blood	blood
12	chr20:16327600-16348200	Weak transcription	Left Ventricle	heart
13	chr20:16331400-16348600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr20:16332400-16348200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr20:16333600-16348000	Weak transcription	Fetal Muscle Trunk	muscle
16	chr20:16333600-16348200	Weak transcription	Psoas Muscle	Psoas
17	chr20:16334000-16377400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr20:16335600-16348600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr20:16338000-16348600	Weak transcription	Stomach Mucosa	stomach
20	chr20:16340000-16348000	Weak transcription	Fetal Brain Male	brain
21	chr20:16341200-16348000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr20:16341200-16371600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr20:16342600-16349200	Weak transcription	NHLF	lung
24	chr20:16342600-16377400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr20:16342800-16349800	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr20:16343200-16348000	Weak transcription	Primary T helper cells PMA-I stimulated	--
27	chr20:16343600-16366800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr20:16343600-16384600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr20:16343800-16351800	Weak transcription	HSMM	muscle
30	chr20:16343800-16356800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr20:16344000-16350600	Strong transcription	Sigmoid Colon	Sigmoid Colon
32	chr20:16344000-16352400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr20:16344400-16348200	Weak transcription	Ovary	ovary
34	chr20:16344400-16380200	Weak transcription	HSMMtube	muscle
35	chr20:16344600-16348600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr20:16344800-16348000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr20:16344800-16348000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr20:16344800-16359400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr20:16344800-16360800	Strong transcription	Rectal Mucosa Donor 31	rectum
40	chr20:16344800-16371400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr20:16344800-16377400	Weak transcription	Brain Angular Gyrus	brain
42	chr20:16345000-16348800	Weak transcription	A549	lung
43	chr20:16345000-16349800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr20:16345000-16351200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr20:16345000-16351200	Strong transcription	Duodenum Mucosa	Duodenum
46	chr20:16345000-16391200	Weak transcription	Pancreatic Islets	Pancreatic Islet
47	chr20:16345200-16349800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr20:16345200-16350600	Strong transcription	Rectal Mucosa Donor 29	rectum
49	chr20:16345200-16359400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr20:16345400-16348000	Weak transcription	Brain Inferior Temporal Lobe	brain

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