Variant report

Variant	rs9394258
Chromosome Location	chr6:34889819-34889820
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:34884853..34887138-chr6:34887416..34892086,4	K562	blood:
2	chr6:34888117..34890171-chr6:34891285..34893271,2	K562	blood:
3	chr6:34887280..34889976-chr6:34890282..34893090,2	K562	blood:
4	chr6:34855243..34858373-chr6:34889287..34893128,3	K562	blood:

Variant related genes	Relation type
ENSG00000064999	Chromatin interaction
ENSG00000064995	Chromatin interaction

Extended variants
information (count: 81 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs11970238	0.82[ASN][1000 genomes]
rs12173920	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12175621	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12176092	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16894945	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs16894995	0.87[ASN][1000 genomes]
rs16895362	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16895467	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16896235	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2273007	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3734260	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3734263	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3756857	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3756858	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3777751	0.81[ASN][1000 genomes]
rs3798349	0.81[ASN][1000 genomes]
rs3800439	0.82[ASN][1000 genomes]
rs3800442	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3800447	0.88[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs3800449	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3807051	0.85[ASN][1000 genomes]
rs4646923	0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56825685	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs57338415	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs57608318	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57637041	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs58654146	0.81[ASN][1000 genomes]
rs58764768	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs58817410	0.81[ASN][1000 genomes]
rs58833137	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs59851773	0.81[ASN][1000 genomes]
rs60439875	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs60509690	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60815469	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73403805	0.82[ASN][1000 genomes]
rs73419615	0.81[ASN][1000 genomes]
rs73419643	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs73419650	0.83[ASN][1000 genomes]
rs73419656	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs73419658	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs73419660	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs73419689	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs73421513	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73421527	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73421528	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73421536	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73421541	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs847849	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9348952	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9348954	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9348955	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9348956	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9348957	0.83[ASN][1000 genomes]
rs9357186	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9357189	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9357191	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9366871	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9366873	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9368840	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9368842	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9368844	0.81[ASN][1000 genomes]
rs9380471	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9380472	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9380475	0.84[ASN][1000 genomes]
rs9380478	0.82[ASN][1000 genomes]
rs9394253	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9394257	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9394259	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9394261	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9394262	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9394264	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9394265	0.82[ASN][1000 genomes]
rs9394267	0.82[ASN][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	nsv1022844	chr6:34317219-35060519	Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv538195	chr6:34317219-35060519	Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
3	esv2763967	chr6:34566255-34925463	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
4	nsv1020710	chr6:34607214-34890143	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	nsv1026121	chr6:34786887-34961360	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking 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 miRNA target site	19 gene(s)	inside rSNPs	diseases
6	nsv885797	chr6:34791027-34980601	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	18 gene(s)	inside rSNPs	diseases
7	nsv1033135	chr6:34802652-34957093	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	18 gene(s)	inside rSNPs	diseases
8	nsv508402	chr6:34840961-34951288	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:34859200-34890800	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr6:34869600-34890000	Weak transcription	Hela-S3	cervix
3	chr6:34872400-34907200	Weak transcription	Small Intestine	intestine
4	chr6:34874400-34893200	Weak transcription	Fetal Intestine Large	intestine
5	chr6:34874800-34896000	Weak transcription	Brain Anterior Caudate	brain
6	chr6:34877000-34890000	Weak transcription	K562	blood
7	chr6:34877800-34892200	Weak transcription	Brain Angular Gyrus	brain
8	chr6:34877800-34921000	Weak transcription	Pancreas	Pancrea
9	chr6:34878000-34891400	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr6:34878000-34896400	Weak transcription	Brain Cingulate Gyrus	brain
11	chr6:34879600-34892200	Weak transcription	Fetal Intestine Small	intestine
12	chr6:34879600-34892200	Weak transcription	Fetal Kidney	kidney
13	chr6:34879600-34893200	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr6:34879600-34896800	Weak transcription	Brain Hippocampus Middle	brain
15	chr6:34879800-34891800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr6:34879800-34893000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr6:34880800-34893400	Weak transcription	Fetal Thymus	thymus
18	chr6:34881000-34898000	Weak transcription	Primary neutrophils fromperipheralblood	blood
19	chr6:34881200-34890200	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr6:34881200-34893000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr6:34881200-34928200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr6:34881400-34890000	Weak transcription	HMEC	breast
23	chr6:34881400-34896600	Weak transcription	Primary B cells from peripheral blood	blood
24	chr6:34881400-34902800	Weak transcription	Primary hematopoietic stem cells	blood
25	chr6:34881600-34890600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr6:34881600-34891800	Weak transcription	Primary T helper cells PMA-I stimulated	--
27	chr6:34885200-34894400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr6:34885600-34890200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr6:34885600-34894400	Weak transcription	Placenta	Placenta
30	chr6:34885800-34892600	Weak transcription	Liver	Liver
31	chr6:34885800-34895400	Weak transcription	Gastric	stomach
32	chr6:34885800-34902200	Weak transcription	Fetal Muscle Leg	muscle
33	chr6:34885800-34902400	Weak transcription	Fetal Stomach	stomach
34	chr6:34886000-34891200	Weak transcription	Colon Smooth Muscle	Colon
35	chr6:34886000-34891400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr6:34886000-34891600	Weak transcription	Rectal Smooth Muscle	rectum
37	chr6:34886200-34892400	Weak transcription	HepG2	liver
38	chr6:34886400-34891800	Weak transcription	Fetal Lung	lung
39	chr6:34886400-34893000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr6:34886400-34902400	Weak transcription	Aorta	Aorta
41	chr6:34886400-34902600	Weak transcription	Monocytes-CD14+_RO01746	blood
42	chr6:34886400-34923400	Weak transcription	Primary T cells from cord blood	blood
43	chr6:34887000-34902800	Weak transcription	Lung	lung
44	chr6:34887400-34890000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr6:34887400-34892200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr6:34887400-34895400	Weak transcription	Ovary	ovary
47	chr6:34887400-34902400	Weak transcription	Psoas Muscle	Psoas
48	chr6:34887600-34890000	Weak transcription	Osteobl	bone
49	chr6:34887600-34894000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr6:34887600-34894000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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