Variant report

Variant	rs59617039
Chromosome Location	chr11:3801352-3801353
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 91 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:81)

rs_ID	r²[population]
rs10500588	0.85[AFR][1000 genomes]
rs1567923	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16929762	0.93[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs16929781	0.90[AFR][1000 genomes]
rs16929785	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35803045	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4910549	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4910565	0.90[EUR][1000 genomes]
rs4910654	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4910665	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4910695	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4910710	0.88[EUR][1000 genomes]
rs4910711	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4910712	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4910797	0.90[EUR][1000 genomes]
rs4910798	0.90[EUR][1000 genomes]
rs4910799	0.90[EUR][1000 genomes]
rs4910800	0.90[EUR][1000 genomes]
rs4910805	0.90[EUR][1000 genomes]
rs4910806	0.90[EUR][1000 genomes]
rs4910808	0.90[EUR][1000 genomes]
rs4910810	0.90[EUR][1000 genomes]
rs4910811	0.90[EUR][1000 genomes]
rs56702085	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs60726516	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs61508984	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs61751339	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs61877577	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs61877578	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs61877581	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs61877582	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs61877583	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs61877584	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs61877592	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs61877594	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs61877595	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs61877596	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs61877597	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs61877598	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs61877601	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs61877602	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs61877604	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs61877626	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs61877627	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs61877628	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs61877629	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61877630	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61877631	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61877632	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61879797	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs61879798	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs61879799	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs61879800	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs61879801	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs61879830	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs61879831	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs61879832	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs61879982	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs61879984	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs61896888	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61896889	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs61896890	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61896891	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61896892	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61896893	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61896894	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61896897	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61896898	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61896899	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61896900	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61896901	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61896917	0.90[EUR][1000 genomes]
rs61896918	0.90[EUR][1000 genomes]
rs61896919	0.90[EUR][1000 genomes]
rs61896920	0.90[EUR][1000 genomes]
rs61896921	0.90[EUR][1000 genomes]
rs61896922	0.90[EUR][1000 genomes]
rs61896923	0.90[EUR][1000 genomes]
rs61896925	0.88[EUR][1000 genomes]
rs7118870	0.90[EUR][1000 genomes]
rs7122294	0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758252	chr11:3236512-3801429	Weak transcription Enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	esv2759796	chr11:3236512-3801429	Strong transcription Enhancers ZNF genes & repeats Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
3	esv1820972	chr11:3616884-3801429	Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	esv1821329	chr11:3616884-3801429	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
5	nsv832052	chr11:3616884-3801429	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
6	nsv428247	chr11:3616884-3801429	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
7	nsv1049560	chr11:3678259-3980746	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
8	nsv540907	chr11:3678259-3980746	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
9	nsv1052744	chr11:3739162-4017601	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
10	nsv1047025	chr11:3750969-4017601	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:3685400-3802600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr11:3685600-3805600	Strong transcription	Fetal Thymus	thymus
3	chr11:3686600-3802600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr11:3687000-3805600	Strong transcription	Dnd41	blood
5	chr11:3687600-3802200	Strong transcription	Primary T cells fromperipheralblood	blood
6	chr11:3687600-3802200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
7	chr11:3687800-3801400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr11:3705800-3802400	Strong transcription	Rectal Mucosa Donor 29	rectum
9	chr11:3720000-3803000	Strong transcription	Sigmoid Colon	Sigmoid Colon
10	chr11:3722000-3802400	Strong transcription	Fetal Stomach	stomach
11	chr11:3731600-3802200	Strong transcription	Fetal Muscle Trunk	muscle
12	chr11:3732200-3803400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
13	chr11:3732400-3804400	Strong transcription	HUES48 Cell Line	embryonic stem cell
14	chr11:3732400-3808000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr11:3732600-3803600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
16	chr11:3733600-3803600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr11:3734000-3803000	Strong transcription	Fetal Intestine Large	intestine
18	chr11:3739400-3817600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr11:3739800-3803000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr11:3742400-3802600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr11:3754200-3803000	Strong transcription	Primary T helper cells PMA-I stimulated	--
22	chr11:3754600-3802600	Strong transcription	Primary T helper cells fromperipheralblood	blood
23	chr11:3759600-3802400	Strong transcription	Fetal Muscle Leg	muscle
24	chr11:3759600-3802600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr11:3760800-3802200	Strong transcription	Primary neutrophils fromperipheralblood	blood
26	chr11:3767200-3802600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr11:3768200-3802400	Strong transcription	Placenta	Placenta
28	chr11:3768800-3802600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr11:3768800-3802600	Strong transcription	Thymus	Thymus
30	chr11:3769400-3801600	Strong transcription	Monocytes-CD14+_RO01746	blood
31	chr11:3769800-3802200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr11:3770400-3802800	Strong transcription	Duodenum Mucosa	Duodenum
33	chr11:3770600-3802400	Strong transcription	Fetal Intestine Small	intestine
34	chr11:3770800-3802200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr11:3770800-3802200	Strong transcription	Osteobl	bone
36	chr11:3770800-3802400	Strong transcription	H1 Cell Line	embryonic stem cell
37	chr11:3770800-3802400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr11:3771200-3802400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr11:3775800-3802400	Strong transcription	Liver	Liver
40	chr11:3775800-3802600	Strong transcription	A549	lung
41	chr11:3776800-3802200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr11:3778600-3801800	Strong transcription	Muscle Satellite Cultured Cells	--
43	chr11:3778800-3801600	Strong transcription	Primary T cells from cord blood	blood
44	chr11:3779000-3802200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr11:3779200-3802600	Strong transcription	Primary B cells from peripheral blood	blood
46	chr11:3779800-3802400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr11:3779800-3802400	Strong transcription	Fetal Lung	lung
48	chr11:3780000-3803800	Strong transcription	Hela-S3	cervix
49	chr11:3780200-3801600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr11:3780200-3802400	Strong transcription	HUES6 Cell Line	embryonic stem cell

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