Variant report

Variant	rs17740473
Chromosome Location	chr20:16452607-16452608
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs1008506	0.81[CEU][hapmap];0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10485553	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10485555	0.86[AFR][1000 genomes]
rs10485556	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12479497	0.81[CEU][hapmap];0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12480660	0.86[AFR][1000 genomes]
rs12480678	0.86[AFR][1000 genomes]
rs12624346	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12624938	0.86[CEU][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17671618	0.90[CEU][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17671977	0.86[CEU][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17672161	0.95[CEU][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17673447	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs17673673	0.86[AFR][1000 genomes]
rs17741318	0.86[AFR][1000 genomes]
rs17741475	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1998085	0.86[CEU][hapmap]
rs2144896	1.00[AFR][1000 genomes]
rs2180472	0.90[CEU][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34122290	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs34550969	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs34761754	1.00[AFR][1000 genomes]
rs4813218	1.00[AFR][1000 genomes]
rs56072219	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs56329134	0.93[EUR][1000 genomes]
rs56363883	1.00[AFR][1000 genomes]
rs56402523	1.00[AFR][1000 genomes]
rs6034476	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs6034499	0.86[AFR][1000 genomes]
rs6080271	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6111116	0.81[CEU][hapmap];0.91[EUR][1000 genomes]
rs6111143	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs61664184	0.91[EUR][1000 genomes]
rs7262082	0.86[CEU][hapmap];0.94[EUR][1000 genomes]
rs7268027	0.90[CEU][hapmap];0.90[EUR][1000 genomes]
rs73597772	0.86[AFR][1000 genomes]
rs73898731	0.92[EUR][1000 genomes]
rs73898736	0.91[EUR][1000 genomes]
rs73898746	0.94[EUR][1000 genomes]
rs8118656	0.86[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs8120353	0.95[CEU][hapmap];0.91[EUR][1000 genomes]
rs8121801	0.82[CEU][hapmap];0.91[EUR][1000 genomes]
rs8125188	0.84[AMR][1000 genomes];0.92[EUR][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	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:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:16392200-16453000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr20:16410200-16455800	Weak transcription	Duodenum Mucosa	Duodenum
3	chr20:16410200-16473200	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chr20:16410600-16455400	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr20:16411200-16455200	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr20:16420400-16453000	Weak transcription	Left Ventricle	heart
7	chr20:16420800-16471400	Weak transcription	Primary hematopoietic stem cells	blood
8	chr20:16431400-16454600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr20:16431400-16455400	Weak transcription	Fetal Lung	lung
10	chr20:16431400-16456000	Weak transcription	Liver	Liver
11	chr20:16431400-16463000	Weak transcription	Aorta	Aorta
12	chr20:16431400-16508200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr20:16431800-16458400	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr20:16431800-16462200	Weak transcription	Primary T cells from cord blood	blood
15	chr20:16433000-16456400	Weak transcription	Primary B cells from cord blood	blood
16	chr20:16436600-16464800	Weak transcription	Small Intestine	intestine
17	chr20:16437600-16453000	Weak transcription	Esophagus	oesophagus
18	chr20:16440000-16455000	Weak transcription	HSMM	muscle
19	chr20:16440400-16452800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr20:16440400-16454800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr20:16440400-16454800	Weak transcription	Adipose Nuclei	Adipose
22	chr20:16440400-16455400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr20:16440400-16468800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr20:16440600-16452800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr20:16440600-16452800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr20:16440600-16454600	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr20:16440600-16454800	Weak transcription	Brain Hippocampus Middle	brain
28	chr20:16440800-16454400	Weak transcription	Colon Smooth Muscle	Colon
29	chr20:16440800-16455400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr20:16440800-16456000	Weak transcription	Rectal Smooth Muscle	rectum
31	chr20:16441200-16454600	Weak transcription	Fetal Muscle Leg	muscle
32	chr20:16443600-16468600	Weak transcription	Fetal Muscle Trunk	muscle
33	chr20:16443800-16453200	Weak transcription	Gastric	stomach
34	chr20:16443800-16469600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr20:16443800-16469600	Weak transcription	Lung	lung
36	chr20:16444000-16466800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr20:16446200-16455600	Weak transcription	Fetal Intestine Large	intestine
38	chr20:16446200-16455800	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr20:16446200-16455800	Weak transcription	Fetal Intestine Small	intestine
40	chr20:16448000-16483600	Weak transcription	Pancreas	Pancrea
41	chr20:16449400-16500600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr20:16449800-16455800	Weak transcription	Brain Cingulate Gyrus	brain
43	chr20:16450800-16455400	Weak transcription	Fetal Kidney	kidney
44	chr20:16451200-16488400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr20:16451400-16478600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr20:16451600-16453200	Enhancers	K562	blood
47	chr20:16452400-16453200	Enhancers	HepG2	liver
48	chr20:16452600-16453600	Enhancers	Stomach Mucosa	stomach
49	chr20:16452600-16453600	Enhancers	NHEK	skin

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