Variant report

Variant	rs378863
Chromosome Location	chr11:16878927-16878928
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:16878376..16881248-chr11:16883308..16886375,3	MCF-7	breast:
2	chr11:16878202..16880013-chr11:16893288..16895132,2	K562	blood:
3	chr11:16869293..16871561-chr11:16878858..16881277,2	K562	blood:

Extended variants
information (count: 93 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:92)

rs_ID	r²[population]
rs12418111	0.86[ASN][1000 genomes]
rs1638456	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1638457	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16933675	0.86[ASN][1000 genomes]
rs177546	0.84[ASN][1000 genomes]
rs177551	0.81[ASN][1000 genomes]
rs177554	0.83[ASN][1000 genomes]
rs2057788	0.80[AMR][1000 genomes]
rs369457	0.82[AMR][1000 genomes]
rs370053	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs370671	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs371905	0.82[AMR][1000 genomes]
rs373266	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs376641	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs379051	0.82[AMR][1000 genomes]
rs380655	0.83[AMR][1000 genomes]
rs381815	0.93[ASN][1000 genomes]
rs382280	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs385627	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs385943	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs387849	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs388968	0.88[ASN][1000 genomes]
rs389967	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs390974	0.82[AMR][1000 genomes]
rs391332	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs392706	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs393633	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs397343	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs397373	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs398216	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs400085	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs400349	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs400458	0.82[AMR][1000 genomes]
rs401820	0.80[AMR][1000 genomes]
rs402982	0.82[AMR][1000 genomes]
rs404492	0.82[AMR][1000 genomes]
rs406109	0.88[AMR][1000 genomes]
rs406890	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs406937	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs407354	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs407932	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs409354	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs413858	0.90[ASN][1000 genomes]
rs414219	0.95[ASN][1000 genomes]
rs414992	0.96[ASN][1000 genomes]
rs415265	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs417349	0.82[AMR][1000 genomes]
rs417406	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs418034	0.82[AMR][1000 genomes]
rs420975	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs422272	0.90[ASN][1000 genomes]
rs425325	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs425745	0.82[AMR][1000 genomes]
rs426085	0.88[AMR][1000 genomes]
rs427429	0.93[ASN][1000 genomes]
rs428840	0.94[ASN][1000 genomes]
rs428933	0.82[AMR][1000 genomes]
rs429368	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs430211	0.85[AMR][1000 genomes]
rs431208	0.82[AMR][1000 genomes]
rs432046	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs432656	0.82[AMR][1000 genomes]
rs433212	0.82[AMR][1000 genomes]
rs433225	0.82[AMR][1000 genomes]
rs434761	0.82[AMR][1000 genomes]
rs434899	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs435206	0.95[ASN][1000 genomes]
rs439224	0.82[AMR][1000 genomes]
rs440212	0.82[AMR][1000 genomes]
rs443327	0.87[AMR][1000 genomes]
rs445146	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs445205	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs445431	0.95[ASN][1000 genomes]
rs446518	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs446612	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs448671	0.93[ASN][1000 genomes]
rs450828	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs452414	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs452745	0.82[AMR][1000 genomes]
rs453015	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs454538	0.88[AMR][1000 genomes]
rs454869	0.82[AMR][1000 genomes]
rs58542530	0.88[ASN][1000 genomes]
rs58555284	0.80[AMR][1000 genomes]
rs59828007	0.80[ASN][1000 genomes]
rs61882035	0.88[ASN][1000 genomes]
rs61882036	0.88[ASN][1000 genomes]
rs61882037	0.88[ASN][1000 genomes]
rs61882038	0.86[ASN][1000 genomes]
rs758402	0.83[ASN][1000 genomes]
rs7926335	0.84[ASN][1000 genomes]
rs7951328	0.82[AMR][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:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:16853400-16883800	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr11:16861200-16879800	Weak transcription	Primary T cells fromperipheralblood	blood
3	chr11:16861800-16880600	Weak transcription	HMEC	breast
4	chr11:16863400-16882000	Weak transcription	Stomach Mucosa	stomach
5	chr11:16863800-16884800	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr11:16863800-16892600	Weak transcription	Fetal Kidney	kidney
7	chr11:16864200-16882000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr11:16866800-16879000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr11:16867600-16879200	Strong transcription	Liver	Liver
10	chr11:16867800-16885000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr11:16870800-16879000	Strong transcription	HepG2	liver
12	chr11:16871400-16879000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr11:16871400-16879000	Strong transcription	Duodenum Mucosa	Duodenum
14	chr11:16872000-16895800	Weak transcription	Aorta	Aorta
15	chr11:16872200-16882200	Weak transcription	Brain Angular Gyrus	brain
16	chr11:16872200-16884400	Weak transcription	Rectal Smooth Muscle	rectum
17	chr11:16872600-16889600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr11:16872800-16883800	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr11:16873000-16881200	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr11:16874400-16881400	Strong transcription	Fetal Intestine Small	intestine
21	chr11:16875000-16879000	Enhancers	Left Ventricle	heart
22	chr11:16875200-16879000	Strong transcription	Gastric	stomach
23	chr11:16875400-16879200	Strong transcription	Esophagus	oesophagus
24	chr11:16875600-16879200	Enhancers	Fetal Muscle Leg	muscle
25	chr11:16876000-16881200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr11:16876000-16883800	Weak transcription	Fetal Brain Female	brain
27	chr11:16876200-16879000	Enhancers	HSMMtube	muscle
28	chr11:16876200-16888400	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr11:16876400-16879400	Enhancers	Fetal Muscle Trunk	muscle
30	chr11:16876400-16879600	Enhancers	Right Ventricle	heart
31	chr11:16876400-16880000	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr11:16876400-16883600	Weak transcription	Spleen	Spleen
33	chr11:16876600-16884000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr11:16876600-16889800	Weak transcription	Adipose Nuclei	Adipose
35	chr11:16876600-16890800	Weak transcription	Colonic Mucosa	Colon
36	chr11:16876800-16879200	Enhancers	Skeletal Muscle Male	skeletal muscle
37	chr11:16876800-16881600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr11:16876800-16898600	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr11:16877000-16879000	Enhancers	Skeletal Muscle Female	skeletal muscle
40	chr11:16877400-16879000	Enhancers	Psoas Muscle	Psoas
41	chr11:16877600-16879000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr11:16877600-16879800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr11:16877600-16880400	Weak transcription	Placenta	Placenta
44	chr11:16877800-16883800	Weak transcription	Brain Germinal Matrix	brain
45	chr11:16877800-16890000	Weak transcription	Lung	lung
46	chr11:16877800-16892200	Weak transcription	Fetal Stomach	stomach
47	chr11:16877800-16899600	Weak transcription	Stomach Smooth Muscle	stomach
48	chr11:16878000-16889400	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr11:16878200-16881600	Weak transcription	Brain Hippocampus Middle	brain
50	chr11:16878200-16883800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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