Variant report

Variant	rs443327
Chromosome Location	chr11:16855101-16855102
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:16850576..16853071-chr11:16853144..16856047,2	K562	blood:

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs1638456	0.83[AMR][1000 genomes]
rs1638457	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2057788	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs369457	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs370053	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs370671	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs371905	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs373266	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs376641	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs378863	0.87[AMR][1000 genomes]
rs379051	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs380655	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs382280	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs385627	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs385943	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs387849	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs389967	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs390974	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs391332	0.83[AMR][1000 genomes]
rs392706	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs393633	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs397343	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs397373	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs398216	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs400085	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs400349	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs400458	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs401820	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs402982	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs404492	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs406109	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs406890	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs406937	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs407354	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs407932	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs409354	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs414219	0.81[AMR][1000 genomes]
rs415265	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs417349	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs417406	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs418034	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs420975	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs425325	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs425745	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs426085	0.98[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs427429	0.82[AMR][1000 genomes]
rs428933	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs429368	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs430211	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs431208	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs432046	0.83[AMR][1000 genomes]
rs432656	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs433212	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs433225	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs434761	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs434899	0.81[AMR][1000 genomes]
rs435206	0.82[AMR][1000 genomes]
rs439224	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs440212	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs445146	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs445205	0.87[AMR][1000 genomes]
rs445431	0.81[AMR][1000 genomes]
rs446518	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs446612	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs450828	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs452414	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs452745	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs453015	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs454538	0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs454869	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58555284	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7951328	0.91[AMR][1000 genomes];0.93[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	nsv832077	chr11:16834545-17059176	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:16813200-16871400	Weak transcription	Rectal Smooth Muscle	rectum
2	chr11:16823000-16871400	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr11:16836000-16861600	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr11:16839200-16878800	Weak transcription	Thymus	Thymus
5	chr11:16842400-16862200	Weak transcription	Fetal Kidney	kidney
6	chr11:16842600-16873400	Weak transcription	Hela-S3	cervix
7	chr11:16842800-16862200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr11:16843000-16874600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr11:16844000-16862000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr11:16844400-16861200	Weak transcription	HMEC	breast
11	chr11:16845800-16855200	Strong transcription	HepG2	liver
12	chr11:16846200-16857800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
13	chr11:16846600-16874000	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr11:16847000-16864000	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr11:16847000-16871200	Weak transcription	Brain Substantia Nigra	brain
16	chr11:16847200-16871400	Weak transcription	Brain Hippocampus Middle	brain
17	chr11:16847600-16857000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr11:16847800-16865000	Weak transcription	Fetal Muscle Leg	muscle
19	chr11:16847800-16871600	Weak transcription	Fetal Muscle Trunk	muscle
20	chr11:16848000-16862400	Weak transcription	Adipose Nuclei	Adipose
21	chr11:16848000-16863000	Weak transcription	Lung	lung
22	chr11:16848200-16857200	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr11:16848200-16857600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr11:16848200-16861200	Weak transcription	Stomach Smooth Muscle	stomach
25	chr11:16848200-16861400	Weak transcription	Ovary	ovary
26	chr11:16848200-16862400	Weak transcription	Esophagus	oesophagus
27	chr11:16848200-16863000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr11:16848200-16871400	Weak transcription	Aorta	Aorta
29	chr11:16848200-16875200	Weak transcription	Right Ventricle	heart
30	chr11:16848400-16866600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr11:16848400-16878600	Weak transcription	Small Intestine	intestine
32	chr11:16848600-16868400	Weak transcription	HSMMtube	muscle
33	chr11:16849200-16861600	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr11:16849800-16859400	Weak transcription	Gastric	stomach
35	chr11:16849800-16860200	Strong transcription	Fetal Intestine Large	intestine
36	chr11:16849800-16861200	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr11:16849800-16865400	Strong transcription	Fetal Intestine Small	intestine
38	chr11:16849800-16871400	Weak transcription	Pancreas	Pancrea
39	chr11:16850400-16871200	Weak transcription	Fetal Brain Female	brain
40	chr11:16850600-16865600	Weak transcription	Psoas Muscle	Psoas
41	chr11:16850600-16871800	Weak transcription	Colonic Mucosa	Colon
42	chr11:16850800-16870600	Weak transcription	Fetal Brain Male	brain
43	chr11:16851600-16855400	Strong transcription	Duodenum Mucosa	Duodenum
44	chr11:16852000-16856200	Genic enhancers	Fetal Heart	heart
45	chr11:16852200-16859800	Strong transcription	Liver	Liver
46	chr11:16852600-16855200	Enhancers	Placenta	Placenta
47	chr11:16852800-16855200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr11:16853000-16855200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr11:16853400-16855200	Enhancers	iPS-18 Cell Line	embryonic stem cell
50	chr11:16853400-16856000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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