Variant report

Variant	rs240418
Chromosome Location	chr6:75950262-75950263
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:75949247..75950773-chr6:75952042..75953568,2	K562	blood:
2	chr6:75946301..75951139-chr6:75992372..75997214,5	K562	blood:
3	chr6:75949911..75955499-chr6:75993041..75995715,6	MCF-7	breast:
4	chr6:75949036..75950747-chr6:75951997..75953568,2	K562	blood:
5	chr6:75949965..75952102-chr6:75989407..75991493,2	K562	blood:
6	chr6:75949478..75951656-chr6:75961660..75963174,2	K562	blood:

Variant related genes	Relation type
ENSG00000112697	Chromatin interaction
ENSG00000225793	Chromatin interaction
ENSG00000112695	Chromatin interaction

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10484915	0.88[CHD][hapmap];0.81[JPT][hapmap];0.85[ASN][1000 genomes]
rs1203210	0.90[CEU][hapmap]
rs1203215	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12176508	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12198145	1.00[CEU][hapmap];0.81[CHB][hapmap];0.87[JPT][hapmap];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12215389	1.00[CEU][hapmap];0.81[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];0.87[JPT][hapmap];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1323069	0.91[CHD][hapmap];0.87[JPT][hapmap];0.91[ASN][1000 genomes]
rs1407733	0.90[CEU][hapmap];0.85[EUR][1000 genomes]
rs1407734	0.90[CEU][hapmap];0.85[EUR][1000 genomes]
rs1474847	1.00[CEU][hapmap];0.81[CHB][hapmap];0.87[JPT][hapmap];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16886237	0.87[JPT][hapmap];0.86[ASN][1000 genomes]
rs16886240	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs171261	0.85[EUR][1000 genomes]
rs171264	1.00[CEU][hapmap];0.81[CHB][hapmap];0.87[JPT][hapmap];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs173274	1.00[CEU][hapmap];0.82[CHB][hapmap];0.81[JPT][hapmap];0.92[EUR][1000 genomes]
rs187067	1.00[CEU][hapmap];0.81[CHB][hapmap];0.81[JPT][hapmap];0.92[EUR][1000 genomes]
rs1967709	0.90[CEU][hapmap];0.85[EUR][1000 genomes]
rs1998454	0.81[EUR][1000 genomes]
rs240363	0.90[CEU][hapmap];0.97[GIH][hapmap];0.86[TSI][hapmap];0.85[EUR][1000 genomes]
rs240365	0.85[EUR][1000 genomes]
rs240366	0.81[CEU][hapmap];0.97[GIH][hapmap];0.82[TSI][hapmap];0.85[EUR][1000 genomes]
rs240367	0.81[JPT][hapmap]
rs240370	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs240384	0.82[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs240394	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs240395	1.00[CEU][hapmap];0.82[CHB][hapmap];0.81[JPT][hapmap];0.92[EUR][1000 genomes]
rs240399	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs240408	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs240411	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs240414	1.00[CEU][hapmap];0.81[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];0.87[JPT][hapmap];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs240415	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs240417	1.00[CEU][hapmap];0.81[CHB][hapmap];0.87[JPT][hapmap];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs240420	0.85[EUR][1000 genomes]
rs240421	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs240422	0.90[CEU][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs240433	0.90[CEU][hapmap];0.94[GIH][hapmap];0.86[TSI][hapmap];0.85[EUR][1000 genomes]
rs240721	0.88[CHD][hapmap];0.81[JPT][hapmap];0.85[ASN][1000 genomes]
rs240741	0.81[JPT][hapmap]
rs2748254	0.82[GIH][hapmap]
rs3756791	0.90[CEU][hapmap];0.81[CHB][hapmap];0.87[JPT][hapmap];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3777505	0.88[CHD][hapmap];0.81[JPT][hapmap];0.85[ASN][1000 genomes]
rs3777507	1.00[CEU][hapmap];0.81[CHB][hapmap];0.87[JPT][hapmap];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3777508	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3777509	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3777510	0.90[CEU][hapmap];0.81[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];0.87[JPT][hapmap];0.86[TSI][hapmap];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs409536	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs415416	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs431116	0.81[ASW][hapmap];0.90[CEU][hapmap];1.00[GIH][hapmap];0.95[TSI][hapmap];0.82[YRI][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs436898	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs511970	1.00[CEU][hapmap];0.81[CHB][hapmap];0.87[JPT][hapmap];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs588691	0.90[CEU][hapmap];0.85[EUR][1000 genomes]
rs601846	0.85[EUR][1000 genomes]
rs656182	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73463812	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73747435	0.86[ASN][1000 genomes]
rs73747437	0.86[ASN][1000 genomes]
rs743003	0.90[CEU][hapmap];0.85[EUR][1000 genomes]
rs743004	0.81[CEU][hapmap];0.81[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];0.86[TSI][hapmap];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs743005	0.85[EUR][1000 genomes]
rs7768671	0.90[CEU][hapmap];0.81[EUR][1000 genomes]
rs910523	0.90[CEU][hapmap];0.81[TSI][hapmap];0.85[EUR][1000 genomes]
rs9293997	1.00[CEU][hapmap];0.81[CHB][hapmap];0.87[JPT][hapmap];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9360895	0.88[CHD][hapmap];0.81[JPT][hapmap];0.85[ASN][1000 genomes]
rs9443160	0.90[CEU][hapmap];0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016804	chr6:75775846-76188585	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv538310	chr6:75775846-76188585	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv463155	chr6:75789526-75980419	Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	18 gene(s)	inside rSNPs	diseases
4	nsv603762	chr6:75789526-75980419	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv1024079	chr6:75848556-76238519	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
6	nsv1027915	chr6:75893542-76510113	Active TSS Enhancers Strong transcription Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
7	nsv538311	chr6:75893542-76510113	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription 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 miRNA target site	70 gene(s)	inside rSNPs	diseases
8	nsv603763	chr6:75923605-76009426	Genic enhancers Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats 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	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:75940400-75952600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr6:75943200-75952000	Weak transcription	Psoas Muscle	Psoas
3	chr6:75944000-75950600	Weak transcription	Hela-S3	cervix
4	chr6:75944200-75950800	Weak transcription	NHLF	lung
5	chr6:75944200-75953000	Weak transcription	Stomach Mucosa	stomach
6	chr6:75944400-75950400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr6:75944400-75952800	Weak transcription	Aorta	Aorta
8	chr6:75944400-75952800	Weak transcription	Brain Angular Gyrus	brain
9	chr6:75944400-75952800	Weak transcription	Ovary	ovary
10	chr6:75945200-75950600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr6:75945400-75950800	Strong transcription	Primary T cells fromperipheralblood	blood
12	chr6:75945400-75951400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr6:75945400-75951400	Strong transcription	Fetal Thymus	thymus
14	chr6:75945600-75950400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr6:75945600-75951000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr6:75945600-75951200	Strong transcription	Primary B cells from cord blood	blood
17	chr6:75945600-75951200	Strong transcription	Primary B cells from peripheral blood	blood
18	chr6:75945600-75951400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr6:75945600-75952800	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr6:75945800-75950400	Strong transcription	Primary T helper cells fromperipheralblood	blood
21	chr6:75945800-75950600	Strong transcription	Rectal Mucosa Donor 29	rectum
22	chr6:75945800-75950800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr6:75945800-75950800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr6:75945800-75951000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr6:75946000-75950800	Strong transcription	A549	lung
26	chr6:75946000-75951000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr6:75946000-75951200	Strong transcription	Liver	Liver
28	chr6:75946000-75951400	Strong transcription	Primary monocytes fromperipheralblood	blood
29	chr6:75946200-75950400	Strong transcription	NH-A	brain
30	chr6:75946200-75950600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr6:75946200-75950600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr6:75946200-75950800	Strong transcription	Primary neutrophils fromperipheralblood	blood
33	chr6:75946200-75950800	Strong transcription	Adipose Nuclei	Adipose
34	chr6:75946200-75950800	Strong transcription	Duodenum Mucosa	Duodenum
35	chr6:75946200-75951000	Strong transcription	Osteobl	bone
36	chr6:75946200-75951200	Strong transcription	Monocytes-CD14+_RO01746	blood
37	chr6:75946200-75952600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr6:75946400-75950400	Strong transcription	Duodenum Smooth Muscle	Duodenum
39	chr6:75946400-75950800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr6:75946400-75951200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr6:75946400-75951200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
42	chr6:75946400-75951200	Strong transcription	Fetal Intestine Large	intestine
43	chr6:75946400-75951400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr6:75946400-75951400	Strong transcription	HUES6 Cell Line	embryonic stem cell
45	chr6:75946400-75951400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr6:75946400-75952600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
47	chr6:75946600-75950600	Strong transcription	Dnd41	blood
48	chr6:75946600-75951200	Strong transcription	Primary hematopoietic stem cells	blood
49	chr6:75946600-75951200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
50	chr6:75946600-75951400	Strong transcription	HUES48 Cell Line	embryonic stem cell

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