Variant report

Variant	rs537354
Chromosome Location	chr6:149665937-149665938
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:149636797..149639661-chr6:149663144..149666590,3	K562	blood:
2	chr6:149665295..149667971-chr6:149694420..149696243,2	MCF-7	breast:
3	chr6:149636797..149641190-chr6:149663953..149668102,4	K562	blood:

Variant related genes	Relation type
ENSG00000055208	Chromatin interaction

Extended variants
information (count: 95 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11155640	0.81[YRI][hapmap]
rs11155642	0.81[YRI][hapmap]
rs11155645	0.83[YRI][hapmap]
rs11155647	0.83[YRI][hapmap]
rs12191079	0.81[YRI][hapmap]
rs12204461	0.83[YRI][hapmap]
rs12204793	0.83[YRI][hapmap]
rs12211357	0.82[YRI][hapmap]
rs17506789	0.86[YRI][hapmap]
rs1980774	0.81[YRI][hapmap]
rs2143076	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs2341783	0.87[JPT][hapmap]
rs2341784	0.87[JPT][hapmap]
rs2744427	0.87[JPT][hapmap]
rs2744434	0.87[JPT][hapmap]
rs2789488	0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs2789490	0.91[CHB][hapmap];0.96[JPT][hapmap]
rs2789492	0.85[ASN][1000 genomes]
rs2789500	0.87[JPT][hapmap]
rs3734296	0.87[JPT][hapmap]
rs472810	0.86[JPT][hapmap]
rs474369	0.87[JPT][hapmap]
rs478767	0.87[JPT][hapmap]
rs480526	0.87[JPT][hapmap]
rs489551	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4895788	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4895789	0.95[CEU][hapmap]
rs492956	0.86[JPT][hapmap]
rs494340	0.82[JPT][hapmap]
rs501926	0.87[JPT][hapmap]
rs504762	0.83[JPT][hapmap]
rs504985	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs506268	0.81[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs511100	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs511105	0.87[JPT][hapmap]
rs514839	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs515133	0.83[JPT][hapmap]
rs521845	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs527971	0.80[JPT][hapmap]
rs532250	0.83[JPT][hapmap]
rs536203	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs538386	0.87[JPT][hapmap]
rs540538	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs544947	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs556335	0.87[JPT][hapmap]
rs559052	0.86[JPT][hapmap]
rs560051	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs562428	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs564961	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs565825	0.86[JPT][hapmap]
rs570442	0.83[JPT][hapmap]
rs577001	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs579789	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs580011	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs585022	0.87[CEU][hapmap];0.82[CHB][hapmap];0.83[JPT][hapmap]
rs600739	0.81[JPT][hapmap]
rs628488	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs638407	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs652807	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs652921	0.87[JPT][hapmap]
rs6570965	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs663625	0.87[JPT][hapmap]
rs6911411	0.81[YRI][hapmap]
rs6920383	0.80[YRI][hapmap]
rs6932778	0.81[YRI][hapmap]
rs7349921	0.86[YRI][hapmap]
rs763590	0.82[YRI][hapmap]
rs7896	0.83[YRI][hapmap]
rs909793	0.81[CHB][hapmap];0.91[JPT][hapmap]
rs9285519	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9285520	0.81[YRI][hapmap]
rs9322178	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9373589	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9373592	0.86[AFR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9377212	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9377218	0.87[CHB][hapmap];0.96[JPT][hapmap]
rs9390676	0.86[JPT][hapmap]
rs9390677	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9404034	0.87[JPT][hapmap]
rs9498322	0.83[YRI][hapmap]
rs9498323	0.85[YRI][hapmap]
rs9498324	0.81[YRI][hapmap]
rs9498325	0.83[YRI][hapmap]
rs9498332	0.83[YRI][hapmap]
rs9498333	0.83[YRI][hapmap]
rs9498335	0.81[YRI][hapmap]
rs9498336	0.83[YRI][hapmap]
rs9498337	0.83[YRI][hapmap]
rs9498338	0.82[YRI][hapmap]
rs9498341	0.82[YRI][hapmap]
rs9498342	0.81[YRI][hapmap]
rs997682	0.81[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024106	chr6:149622349-149745053	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv522875	chr6:149643709-149762537	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
3	nsv530444	chr6:149654540-149848997	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:149641200-149681400	Weak transcription	Fetal Stomach	stomach
2	chr6:149645000-149666400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
3	chr6:149649400-149689400	Weak transcription	Fetal Brain Female	brain
4	chr6:149654000-149674200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr6:149654600-149668600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr6:149656200-149670800	Weak transcription	Esophagus	oesophagus
7	chr6:149656800-149681400	Weak transcription	Psoas Muscle	Psoas
8	chr6:149656800-149682400	Weak transcription	Lung	lung
9	chr6:149656800-149694400	Weak transcription	Placenta	Placenta
10	chr6:149657800-149673800	Weak transcription	Thymus	Thymus
11	chr6:149657800-149683800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr6:149657800-149691200	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr6:149658000-149673800	Weak transcription	Fetal Intestine Large	intestine
14	chr6:149658000-149673800	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr6:149658000-149674000	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr6:149658000-149679000	Weak transcription	K562	blood
17	chr6:149658000-149680800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr6:149658000-149681400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr6:149658000-149695400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr6:149658200-149691000	Weak transcription	NHDF-Ad	bronchial
21	chr6:149658800-149666400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr6:149658800-149674000	Weak transcription	HepG2	liver
23	chr6:149658800-149692400	Weak transcription	Fetal Kidney	kidney
24	chr6:149659200-149685200	Weak transcription	Ovary	ovary
25	chr6:149659200-149691400	Weak transcription	Fetal Muscle Trunk	muscle
26	chr6:149659400-149679000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr6:149659600-149679200	Weak transcription	NH-A	brain
28	chr6:149659600-149684200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr6:149660200-149667000	Weak transcription	Stomach Mucosa	stomach
30	chr6:149660200-149669600	Weak transcription	Brain Angular Gyrus	brain
31	chr6:149660400-149669200	Weak transcription	Fetal Intestine Small	intestine
32	chr6:149660400-149682200	Weak transcription	Fetal Muscle Leg	muscle
33	chr6:149660400-149682400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr6:149660400-149685600	Weak transcription	Pancreas	Pancrea
35	chr6:149660400-149699200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr6:149660800-149666200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
37	chr6:149661000-149669400	Weak transcription	Primary T cells fromperipheralblood	blood
38	chr6:149661000-149674200	Weak transcription	Left Ventricle	heart
39	chr6:149661200-149666000	Enhancers	Primary T cells from cord blood	blood
40	chr6:149661200-149666000	Enhancers	Liver	Liver
41	chr6:149661800-149666600	Enhancers	Primary neutrophils fromperipheralblood	blood
42	chr6:149662200-149694800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr6:149662400-149666000	Enhancers	Primary T killer memory cells from peripheral blood	blood
44	chr6:149663000-149666600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr6:149663000-149674000	Weak transcription	Osteobl	bone
46	chr6:149663400-149668400	Strong transcription	Dnd41	blood
47	chr6:149663400-149685400	Weak transcription	Fetal Lung	lung
48	chr6:149663600-149666400	Enhancers	NHEK	skin
49	chr6:149663600-149667200	Weak transcription	Fetal Heart	heart
50	chr6:149663600-149673800	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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