Variant report

Variant	rs9458238
Chromosome Location	chr6:161796421-161796422
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:161152558..161154302-chr6:161794607..161797169,2	K562	blood:
2	chr6:161152558..161155557-chr6:161793126..161797169,4	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs12194727	0.95[ASN][1000 genomes]
rs12203386	0.85[EUR][1000 genomes]
rs1801582	0.81[ASN][1000 genomes]
rs4077416	0.90[ASN][1000 genomes]
rs4315992	0.81[ASN][1000 genomes]
rs4574609	0.89[EUR][1000 genomes]
rs4587148	0.90[ASN][1000 genomes]
rs62435884	0.93[ASN][1000 genomes]
rs6907632	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73021276	0.90[ASN][1000 genomes]
rs73021284	0.85[ASN][1000 genomes]
rs7766508	0.83[EUR][1000 genomes]
rs9347501	0.93[ASN][1000 genomes]
rs9347504	0.81[ASN][1000 genomes]
rs9355346	0.90[ASN][1000 genomes]
rs9355894	0.85[ASN][1000 genomes]
rs9456666	0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv886817	chr6:161371621-161846654	Strong transcription Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	esv3381361	chr6:161373617-161864101	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv949397	chr6:161592100-161812932	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	esv2752091	chr6:161592100-161855785	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
5	nsv1029727	chr6:161607680-161814295	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	nsv1030623	chr6:161611170-161796985	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription 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	3 gene(s)	inside rSNPs	diseases
7	nsv538494	chr6:161611170-161796985	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
8	nsv481931	chr6:161647026-161961906	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
9	nsv1031234	chr6:161676768-162250726	Enhancers ZNF genes & repeats Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv869611	chr6:161690974-161817564	Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
11	nsv1025168	chr6:161702621-161831885	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
12	nsv886819	chr6:161712035-162520133	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
13	nsv886820	chr6:161712880-162184932	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
14	nsv830854	chr6:161739926-161927515	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
15	nsv5577	chr6:161775026-161819733	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
16	nsv518931	chr6:161793319-162406335	Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:161780600-161835800	Weak transcription	Right Atrium	heart
2	chr6:161794600-161797200	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr6:161794800-161796600	Enhancers	Fetal Brain Male	brain
4	chr6:161795200-161796600	Enhancers	Colonic Mucosa	Colon
5	chr6:161795200-161796600	Enhancers	Esophagus	oesophagus
6	chr6:161795200-161797400	Enhancers	Skeletal Muscle Female	skeletal muscle
7	chr6:161795200-161797600	Enhancers	Gastric	stomach
8	chr6:161795600-161796800	Weak transcription	Lung	lung
9	chr6:161795600-161797000	Enhancers	Pancreas	Pancrea
10	chr6:161795800-161797200	Enhancers	Placenta	Placenta
11	chr6:161795800-161802200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr6:161796000-161797000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
13	chr6:161796000-161797200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr6:161796000-161797200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr6:161796000-161797400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr6:161796000-161797600	Enhancers	Spleen	Spleen
17	chr6:161796200-161796600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
18	chr6:161796200-161796800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr6:161796200-161796800	Flanking Active TSS	Adipose Nuclei	Adipose
20	chr6:161796200-161797000	Active TSS	Brain Angular Gyrus	brain
21	chr6:161796200-161797000	Active TSS	Brain Hippocampus Middle	brain
22	chr6:161796200-161797200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
23	chr6:161796200-161797200	Flanking Active TSS	Duodenum Mucosa	Duodenum
24	chr6:161796200-161797200	Enhancers	Fetal Muscle Leg	muscle
25	chr6:161796200-161797200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
26	chr6:161796200-161797200	Flanking Active TSS	K562	blood
27	chr6:161796200-161797200	Flanking Active TSS	NHEK	skin
28	chr6:161796200-161797400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr6:161796200-161797400	Enhancers	Rectal Mucosa Donor 29	rectum
30	chr6:161796400-161796600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr6:161796400-161796600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr6:161796400-161796600	Flanking Active TSS	Brain Cingulate Gyrus	brain
33	chr6:161796400-161796600	Flanking Active TSS	NHLF	lung
34	chr6:161796400-161796800	Flanking Active TSS	Brain Germinal Matrix	brain
35	chr6:161796400-161796800	Flanking Active TSS	Fetal Lung	lung
36	chr6:161796400-161796800	Enhancers	Rectal Mucosa Donor 31	rectum
37	chr6:161796400-161797000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
38	chr6:161796400-161797000	Active TSS	Brain Anterior Caudate	brain
39	chr6:161796400-161797000	Active TSS	Brain Inferior Temporal Lobe	brain
40	chr6:161796400-161797000	Active TSS	Brain Substantia Nigra	brain
41	chr6:161796400-161797000	Enhancers	Stomach Mucosa	stomach
42	chr6:161796400-161797000	Active TSS	Stomach Smooth Muscle	stomach
43	chr6:161796400-161797000	Flanking Active TSS	HMEC	breast
44	chr6:161796400-161797000	Flanking Active TSS	HSMM	muscle
45	chr6:161796400-161797000	Flanking Active TSS	NH-A	brain
46	chr6:161796400-161797200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr6:161796400-161797200	Flanking Active TSS	Osteobl	bone
48	chr6:161796400-161797400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
49	chr6:161796400-161798800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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