Variant report

Variant	rs381815
Chromosome Location	chr11:16902268-16902269
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	chr11:16901136..16902901-chr11:16914387..16916198,2	K562	blood:
2	chr11:16888585..16890832-chr11:16900532..16902308,3	MCF-7	breast:

Extended variants
information (count: 99 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:98)

rs_ID	r²[population]
rs10741713	0.94[JPT][hapmap]
rs10766360	0.94[JPT][hapmap]
rs11024074	0.91[CEU][hapmap];0.86[EUR][1000 genomes]
rs11024087	0.93[JPT][hapmap]
rs12418111	0.89[CHB][hapmap];0.94[JPT][hapmap];0.88[ASN][1000 genomes]
rs1638456	0.90[ASN][1000 genomes]
rs1638457	0.93[ASN][1000 genomes]
rs16933675	0.88[CHB][hapmap];0.94[JPT][hapmap];0.88[ASN][1000 genomes]
rs16933680	0.94[JPT][hapmap]
rs16933682	0.94[JPT][hapmap]
rs16933683	0.94[JPT][hapmap]
rs16933684	0.94[JPT][hapmap]
rs177546	0.86[ASN][1000 genomes]
rs177551	0.81[ASN][1000 genomes]
rs177554	0.84[ASN][1000 genomes]
rs177561	0.94[JPT][hapmap]
rs177562	0.94[JPT][hapmap]
rs177563	0.94[JPT][hapmap]
rs1860024	0.83[JPT][hapmap]
rs2057788	0.94[JPT][hapmap]
rs2190752	0.94[JPT][hapmap]
rs2883150	0.94[JPT][hapmap]
rs367373	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs369457	0.94[JPT][hapmap]
rs371905	0.94[JPT][hapmap]
rs378863	0.93[ASN][1000 genomes]
rs382280	0.84[JPT][hapmap]
rs387849	0.94[JPT][hapmap]
rs388968	0.93[JPT][hapmap];0.90[ASN][1000 genomes]
rs389967	0.88[JPT][hapmap]
rs390974	0.94[JPT][hapmap]
rs391332	0.89[ASN][1000 genomes]
rs393633	0.89[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs397343	0.94[JPT][hapmap]
rs397373	0.88[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs400085	0.94[JPT][hapmap]
rs400349	0.80[JPT][hapmap]
rs400458	0.94[JPT][hapmap]
rs401820	0.94[JPT][hapmap]
rs402982	0.88[JPT][hapmap]
rs406890	0.94[JPT][hapmap]
rs407354	0.88[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs407932	0.81[JPT][hapmap]
rs409354	0.88[CHB][hapmap]
rs413858	0.93[ASN][1000 genomes]
rs414219	0.88[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs414992	0.89[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs416258	0.91[CEU][hapmap];0.84[JPT][hapmap];0.86[EUR][1000 genomes]
rs417406	0.88[JPT][hapmap]
rs420975	0.94[JPT][hapmap]
rs422272	0.93[ASN][1000 genomes]
rs425325	0.89[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs425745	0.85[JPT][hapmap]
rs426570	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs427429	0.95[ASN][1000 genomes]
rs428840	0.88[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs428933	0.94[JPT][hapmap]
rs430211	0.94[JPT][hapmap]
rs431208	0.94[JPT][hapmap]
rs432046	0.88[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs433212	0.94[JPT][hapmap]
rs433225	0.94[JPT][hapmap]
rs434176	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs434761	0.94[JPT][hapmap]
rs434899	0.89[CHB][hapmap];0.94[JPT][hapmap];0.93[ASN][1000 genomes]
rs435206	0.89[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs440212	0.94[JPT][hapmap]
rs445146	0.94[JPT][hapmap]
rs445205	0.88[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs445431	0.98[ASN][1000 genomes]
rs446518	0.89[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs448671	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs450828	0.94[JPT][hapmap]
rs452414	0.94[JPT][hapmap]
rs452745	0.94[JPT][hapmap]
rs454869	0.94[JPT][hapmap]
rs4756875	0.94[JPT][hapmap]
rs4756876	0.94[JPT][hapmap]
rs4757449	0.94[JPT][hapmap]
rs4757451	0.94[JPT][hapmap]
rs4757452	0.93[JPT][hapmap]
rs4757454	0.94[JPT][hapmap]
rs4757456	0.94[JPT][hapmap]
rs4757457	0.94[JPT][hapmap]
rs58542530	0.90[ASN][1000 genomes]
rs59828007	0.82[ASN][1000 genomes]
rs61882035	0.90[ASN][1000 genomes]
rs61882036	0.90[ASN][1000 genomes]
rs61882037	0.90[ASN][1000 genomes]
rs61882038	0.88[ASN][1000 genomes]
rs6486326	0.94[JPT][hapmap]
rs7111470	0.94[JPT][hapmap]
rs7396552	0.88[JPT][hapmap]
rs7481080	0.89[JPT][hapmap]
rs758402	0.84[ASN][1000 genomes]
rs7924696	0.94[JPT][hapmap]
rs7926335	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7939987	0.94[JPT][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	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

Variant related diseases (count:2)

Disease	PMID	Source
Blood pressure	21909110	GWAS catalog
Systolic blood pressure	19430479	GWAS catalog

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:16885200-16902400	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr11:16891200-16904600	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr11:16891600-16903600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr11:16893400-16902600	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr11:16896600-16902400	Weak transcription	Duodenum Mucosa	Duodenum
6	chr11:16896600-16902600	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr11:16896800-16902600	Weak transcription	HSMMtube	muscle
8	chr11:16898000-16903600	Enhancers	Gastric	stomach
9	chr11:16898400-16908400	Weak transcription	HepG2	liver
10	chr11:16898800-16902400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr11:16898800-16902400	Weak transcription	Fetal Lung	lung
12	chr11:16898800-16902800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr11:16899000-16902600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr11:16899000-16902600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr11:16899200-16903000	Weak transcription	Brain Cingulate Gyrus	brain
16	chr11:16899200-16903600	Enhancers	Left Ventricle	heart
17	chr11:16899400-16902600	Weak transcription	Brain Substantia Nigra	brain
18	chr11:16899400-16904600	Weak transcription	Placenta	Placenta
19	chr11:16900000-16903600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr11:16900000-16903600	Enhancers	Pancreas	Pancrea
21	chr11:16900200-16905400	Enhancers	Stomach Mucosa	stomach
22	chr11:16900400-16903400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr11:16900600-16905800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr11:16900800-16902600	Enhancers	HMEC	breast
25	chr11:16900800-16902800	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr11:16900800-16902800	Weak transcription	Adipose Nuclei	Adipose
27	chr11:16900800-16903400	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr11:16900800-16905800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr11:16901000-16902600	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr11:16901000-16902600	Genic enhancers	Fetal Intestine Small	intestine
31	chr11:16901000-16903400	Enhancers	Lung	lung
32	chr11:16901000-16903800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr11:16901200-16902800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr11:16901200-16902800	Weak transcription	Brain Anterior Caudate	brain
35	chr11:16901200-16904800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr11:16901400-16904400	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr11:16901600-16903600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr11:16901600-16903600	Enhancers	Ovary	ovary
39	chr11:16901800-16902400	Enhancers	Fetal Heart	heart
40	chr11:16901800-16902800	Weak transcription	Esophagus	oesophagus
41	chr11:16901800-16902800	Weak transcription	Spleen	Spleen
42	chr11:16901800-16903600	Enhancers	Placenta Amnion	Placenta Amnion
43	chr11:16902000-16902800	Enhancers	NHEK	skin
44	chr11:16902000-16905800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr11:16902200-16902800	Active TSS	Right Atrium	heart
46	chr11:16902200-16903400	Active TSS	Right Ventricle	heart

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