Variant report

Variant	rs2298700
Chromosome Location	chr6:147636220-147636221
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1015915	0.87[ASN][1000 genomes]
rs1496032	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1496035	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17054180	1.00[EUR][1000 genomes]
rs17076675	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17076680	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17076684	1.00[EUR][1000 genomes]
rs17076686	0.89[ASW][hapmap];1.00[GIH][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17076695	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17076710	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17076713	1.00[ASW][hapmap];0.84[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3734476	0.89[ASW][hapmap];0.90[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3737183	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs59163794	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6905495	1.00[EUR][1000 genomes]
rs73580482	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73580484	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73586333	1.00[ASN][1000 genomes]
rs7742922	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9485179	1.00[EUR][1000 genomes]
rs9497780	1.00[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	nsv886752	chr6:147443480-147729477	Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv886753	chr6:147526508-147680291	Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv470864	chr6:147539165-147709179	Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv886754	chr6:147539165-147729477	Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
5	nsv604840	chr6:147539165-147730324	Strong transcription Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
6	esv1832155	chr6:147554900-147715464	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
7	nsv886755	chr6:147577646-147729477	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
8	nsv886756	chr6:147580697-147729477	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
9	nsv830839	chr6:147584914-147757264	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
10	nsv886757	chr6:147591022-147729477	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:147584400-147684600	Weak transcription	Brain Angular Gyrus	brain
2	chr6:147607400-147707400	Weak transcription	Colon Smooth Muscle	Colon
3	chr6:147609800-147667000	Weak transcription	NHEK	skin
4	chr6:147610200-147700200	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr6:147617400-147643200	Weak transcription	Colonic Mucosa	Colon
6	chr6:147617400-147680200	Weak transcription	Small Intestine	intestine
7	chr6:147617600-147636800	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr6:147617800-147643000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr6:147618600-147648400	Weak transcription	HSMMtube	muscle
10	chr6:147618600-147649000	Weak transcription	Fetal Kidney	kidney
11	chr6:147619000-147636600	Weak transcription	NHLF	lung
12	chr6:147619000-147643200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr6:147619200-147690200	Weak transcription	Fetal Heart	heart
14	chr6:147619600-147642000	Strong transcription	K562	blood
15	chr6:147619800-147643200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr6:147619800-147648400	Weak transcription	Fetal Brain Male	brain
17	chr6:147622600-147708200	Weak transcription	Psoas Muscle	Psoas
18	chr6:147623600-147636600	Weak transcription	Primary T helper cells PMA-I stimulated	--
19	chr6:147625000-147642400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr6:147625400-147637600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr6:147625600-147636800	Weak transcription	HMEC	breast
22	chr6:147625600-147643200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr6:147625600-147647000	Weak transcription	Rectal Smooth Muscle	rectum
24	chr6:147625600-147648600	Weak transcription	Brain Cingulate Gyrus	brain
25	chr6:147625800-147637400	Weak transcription	Fetal Lung	lung
26	chr6:147625800-147641000	Weak transcription	Esophagus	oesophagus
27	chr6:147625800-147651200	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr6:147625800-147664600	Weak transcription	Spleen	Spleen
29	chr6:147625800-147667400	Weak transcription	Gastric	stomach
30	chr6:147626000-147636600	Weak transcription	GM12878-XiMat	blood
31	chr6:147626000-147643400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr6:147626000-147645000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr6:147626000-147648600	Weak transcription	Fetal Stomach	stomach
34	chr6:147626000-147650600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr6:147626000-147687000	Weak transcription	Lung	lung
36	chr6:147626000-147700200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr6:147626200-147636600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr6:147626200-147636600	Weak transcription	Stomach Smooth Muscle	stomach
39	chr6:147626200-147636800	Weak transcription	Brain Anterior Caudate	brain
40	chr6:147626200-147642400	Weak transcription	Primary B cells from peripheral blood	blood
41	chr6:147626200-147643400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr6:147626200-147643600	Weak transcription	Thymus	Thymus
43	chr6:147626200-147662600	Weak transcription	Pancreas	Pancrea
44	chr6:147626200-147670200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr6:147626200-147684000	Weak transcription	Brain Hippocampus Middle	brain
46	chr6:147626200-147684000	Weak transcription	Fetal Muscle Trunk	muscle
47	chr6:147626200-147687200	Weak transcription	Fetal Muscle Leg	muscle
48	chr6:147626200-147707600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr6:147626400-147636600	Weak transcription	Fetal Brain Female	brain
50	chr6:147626400-147637200	Weak transcription	Brain Substantia Nigra	brain

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