Variant report

Variant	rs71489913
Chromosome Location	chr11:108578681-108578682
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	chr11:108571836..108575697-chr11:108576409..108578962,3	K562	blood:
2	chr11:108572816..108575697-chr11:108577142..108578962,2	K562	blood:

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10502103	0.81[AMR][1000 genomes]
rs10749924	0.94[ASN][1000 genomes]
rs10749925	0.94[ASN][1000 genomes]
rs11828110	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12574567	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12574721	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12574758	0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs12575278	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12577382	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12577980	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12785398	0.84[AMR][1000 genomes]
rs12785439	0.88[ASN][1000 genomes]
rs12786616	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12790940	0.85[AFR][1000 genomes]
rs12794048	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12794597	0.81[AMR][1000 genomes]
rs12795663	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12800516	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12800726	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12801974	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12802313	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12803616	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12808060	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12808674	0.81[ASN][1000 genomes]
rs1462787	0.86[ASN][1000 genomes]
rs1482268	0.95[ASN][1000 genomes]
rs17108571	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17108579	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17108608	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17108703	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2061681	0.88[ASN][1000 genomes]
rs2615727	0.83[ASN][1000 genomes]
rs2615756	0.81[ASN][1000 genomes]
rs2726885	0.86[ASN][1000 genomes]
rs28736339	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34138098	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34180595	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34350110	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34354308	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34451436	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34593113	0.84[AMR][1000 genomes]
rs34805458	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34848528	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34942750	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35085871	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35244070	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35430545	0.82[ASN][1000 genomes]
rs35525430	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35754206	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35777838	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs36006135	0.80[ASN][1000 genomes]
rs36034048	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs36043878	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs57484308	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7107825	0.91[ASN][1000 genomes]
rs71489916	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs71489918	0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs71489919	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs71489922	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs71489925	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs898972	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs970162	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs970164	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1052254	chr11:108122683-108845008	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv541164	chr11:108122683-108845008	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv898386	chr11:108409442-108831875	Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv898388	chr11:108440814-108724639	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv832264	chr11:108449613-108623720	ZNF genes & repeats Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:108561800-108579200	Weak transcription	Fetal Intestine Small	intestine
2	chr11:108561800-108579200	Weak transcription	Rectal Smooth Muscle	rectum
3	chr11:108561800-108581400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr11:108561800-108581400	Weak transcription	Gastric	stomach
5	chr11:108561800-108581400	Weak transcription	Thymus	Thymus
6	chr11:108561800-108581600	Weak transcription	Spleen	Spleen
7	chr11:108563000-108581400	Weak transcription	Pancreas	Pancrea
8	chr11:108564800-108581400	Weak transcription	Fetal Brain Male	brain
9	chr11:108564800-108595400	Weak transcription	Hela-S3	cervix
10	chr11:108565600-108579200	Weak transcription	Lung	lung
11	chr11:108569800-108580600	Weak transcription	Fetal Heart	heart
12	chr11:108570000-108583400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr11:108570400-108581600	Weak transcription	Esophagus	oesophagus
14	chr11:108572000-108590400	Weak transcription	Stomach Mucosa	stomach
15	chr11:108572800-108579200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr11:108573800-108582800	Strong transcription	Primary T cells fromperipheralblood	blood
17	chr11:108574800-108580400	Strong transcription	Left Ventricle	heart
18	chr11:108574800-108586800	Strong transcription	Primary T helper cells fromperipheralblood	blood
19	chr11:108575000-108578800	Strong transcription	Brain Anterior Caudate	brain
20	chr11:108575000-108579200	Strong transcription	Primary monocytes fromperipheralblood	blood
21	chr11:108575000-108580200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr11:108575000-108580200	Strong transcription	K562	blood
23	chr11:108575200-108581400	Weak transcription	Fetal Stomach	stomach
24	chr11:108575200-108581600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr11:108575400-108581400	Weak transcription	Aorta	Aorta
26	chr11:108575400-108599400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr11:108575600-108579200	Strong transcription	Fetal Thymus	thymus
28	chr11:108576600-108579400	Strong transcription	HUES6 Cell Line	embryonic stem cell
29	chr11:108576600-108580000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr11:108577200-108578800	Strong transcription	Primary T killer memory cells from peripheral blood	blood
31	chr11:108577200-108578800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr11:108577200-108579000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr11:108577200-108579200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr11:108577200-108579400	Strong transcription	NH-A	brain
35	chr11:108577200-108580000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr11:108577200-108580200	Strong transcription	Rectal Mucosa Donor 31	rectum
37	chr11:108577200-108581600	Strong transcription	Fetal Muscle Trunk	muscle
38	chr11:108577200-108582600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr11:108577200-108583800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr11:108577200-108586200	Strong transcription	HSMM	muscle
41	chr11:108577400-108578800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr11:108577400-108578800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr11:108577400-108578800	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
44	chr11:108577400-108578800	Strong transcription	Brain Cingulate Gyrus	brain
45	chr11:108577400-108578800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr11:108577400-108578800	Strong transcription	Fetal Intestine Large	intestine
47	chr11:108577400-108579200	Strong transcription	HUVEC	blood vessel
48	chr11:108577400-108579400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr11:108577400-108579400	Strong transcription	Brain Inferior Temporal Lobe	brain
50	chr11:108577400-108579800	Strong transcription	Fetal Kidney	kidney

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