Variant report

Variant	rs11743833
Chromosome Location	chr5:36933947-36933948
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:36932364..36935161-chr5:36941200..36943809,2	K562	blood:
2	chr5:36875507..36877384-chr5:36931274..36933956,2	MCF-7	breast:
3	chr5:36932364..36935161-chr5:36941200..36944542,3	K562	blood:

Variant related genes	Relation type
ENSG00000164190	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10941319	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11744960	0.92[ASN][1000 genomes]
rs11745128	0.86[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs12153359	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12187383	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12188075	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12513653	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12516349	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12520272	1.00[CEU][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12520324	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12520562	0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs12521488	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16903365	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16903373	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16903403	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16903413	1.00[ASW][hapmap];1.00[CEU][hapmap];0.86[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16903419	1.00[ASW][hapmap];1.00[CEU][hapmap];0.86[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16903427	1.00[ASW][hapmap];1.00[CEU][hapmap];0.86[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16903429	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16903442	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16903456	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16903466	0.81[ASN][1000 genomes]
rs16903469	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs16903477	0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2365495	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2365838	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3776588	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3822471	0.86[ASW][hapmap];0.86[CHB][hapmap];0.95[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];0.83[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3849756	0.85[AMR][1000 genomes]
rs56680779	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56999464	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs57686895	0.92[ASN][1000 genomes]
rs60633925	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs60643425	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60730034	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61638663	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62654863	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv492319	chr5:36570707-37061019	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv525478	chr5:36804225-37349895	Strong transcription Transcr. at gene 5' and 3' Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
3	esv1793961	chr5:36866835-37361728	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
4	nsv530225	chr5:36886635-37331912	Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	nsv830264	chr5:36887002-36941494	Strong transcription Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv1024051	chr5:36899712-37303001	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
7	nsv537725	chr5:36899712-37303001	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
8	nsv530226	chr5:36906377-37606367	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
9	nsv1033562	chr5:36927652-36994811	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	nsv1023362	chr5:36927652-37010749	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
11	nsv1017947	chr5:36927652-37017180	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
12	nsv1029936	chr5:36927652-37025871	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
13	nsv1029319	chr5:36928654-37017180	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
14	nsv1030883	chr5:36932448-37039857	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:36907400-36938200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr5:36919600-36938200	Weak transcription	Pancreas	Pancrea
3	chr5:36919800-36953000	Weak transcription	Primary B cells from peripheral blood	blood
4	chr5:36919800-36961600	Weak transcription	K562	blood
5	chr5:36920400-36951400	Weak transcription	Primary hematopoietic stem cells	blood
6	chr5:36923600-36943600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr5:36924600-36943600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr5:36924800-36939000	Weak transcription	Fetal Thymus	thymus
9	chr5:36924800-36955200	Weak transcription	Dnd41	blood
10	chr5:36925600-36935200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr5:36926000-36936800	Enhancers	Primary T helper cells PMA-I stimulated	--
12	chr5:36926600-36939400	Weak transcription	Fetal Intestine Small	intestine
13	chr5:36926800-36934200	Weak transcription	Colon Smooth Muscle	Colon
14	chr5:36927600-36961600	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr5:36928200-36935200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr5:36928200-36935400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
17	chr5:36929000-36934800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr5:36929000-36938000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr5:36929600-36947400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr5:36929800-36937400	Weak transcription	HSMM	muscle
21	chr5:36929800-36939400	Weak transcription	Osteobl	bone
22	chr5:36930000-36937000	Weak transcription	A549	lung
23	chr5:36930000-36938000	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr5:36930000-36945000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr5:36930200-36934000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr5:36930200-36934400	Weak transcription	HUVEC	blood vessel
27	chr5:36930600-36934400	Weak transcription	Primary T cells from cord blood	blood
28	chr5:36930600-36935000	Weak transcription	Primary B cells from cord blood	blood
29	chr5:36930800-36940000	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr5:36931200-36934000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
31	chr5:36931200-36936600	Weak transcription	Fetal Heart	heart
32	chr5:36931200-36939400	Weak transcription	Hela-S3	cervix
33	chr5:36931800-36934600	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr5:36931800-36938000	Weak transcription	Left Ventricle	heart
35	chr5:36931800-36938200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr5:36931800-36938400	Weak transcription	Ovary	ovary
37	chr5:36932200-36940000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
38	chr5:36932200-36940000	Weak transcription	Brain Angular Gyrus	brain
39	chr5:36932400-36943200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr5:36932600-36934000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
41	chr5:36933200-36935000	Weak transcription	Brain Anterior Caudate	brain
42	chr5:36933200-36935200	Weak transcription	Psoas Muscle	Psoas
43	chr5:36933200-36936600	Weak transcription	Liver	Liver
44	chr5:36933200-36940200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr5:36933200-36944000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr5:36933200-36962000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr5:36933400-36949600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr5:36933800-36934800	Weak transcription	Primary T helper cells fromperipheralblood	blood

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