Variant report

Variant	rs9493442
Chromosome Location	chr6:133115602-133115603
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:133098988..133101472-chr6:133113215..133115777,2	K562	blood:
2	chr6:133104366..133106392-chr6:133114586..133116297,2	K562	blood:
3	chr6:133104366..133109365-chr6:133114099..133117737,7	K562	blood:
4	chr6:133113913..133115719-chr6:133118653..133120183,2	K562	blood:

Variant related genes	Relation type
ENSG00000146409	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10080705	1.00[EUR][1000 genomes]
rs6899535	1.00[EUR][1000 genomes]
rs6900010	1.00[EUR][1000 genomes]
rs6923611	1.00[EUR][1000 genomes]
rs6942246	1.00[EUR][1000 genomes]
rs9321368	1.00[EUR][1000 genomes]
rs9483503	1.00[EUR][1000 genomes]
rs9493448	1.00[EUR][1000 genomes]

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	nsv532069	chr6:132776411-133462292	Active TSS Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	nsv1015742	chr6:132933666-133285852	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers 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	71 gene(s)	inside rSNPs	diseases
3	nsv886676	chr6:133111706-133168582	Flanking Active TSS Genic enhancers Enhancers Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:133083800-133118200	Weak transcription	Brain Cingulate Gyrus	brain
2	chr6:133085000-133119000	Weak transcription	Thymus	Thymus
3	chr6:133085200-133119400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr6:133085600-133118800	Weak transcription	Colon Smooth Muscle	Colon
5	chr6:133085800-133119000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr6:133086000-133118800	Weak transcription	Fetal Kidney	kidney
7	chr6:133089400-133119400	Weak transcription	Gastric	stomach
8	chr6:133089600-133118800	Weak transcription	Fetal Heart	heart
9	chr6:133089600-133119000	Weak transcription	Primary hematopoietic stem cells	blood
10	chr6:133089600-133119200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr6:133089600-133119200	Weak transcription	Right Ventricle	heart
12	chr6:133089600-133119200	Weak transcription	Stomach Mucosa	stomach
13	chr6:133089600-133119400	Weak transcription	Pancreas	Pancrea
14	chr6:133089800-133118200	Weak transcription	Fetal Brain Male	brain
15	chr6:133089800-133118800	Weak transcription	Brain Angular Gyrus	brain
16	chr6:133090000-133118800	Weak transcription	HepG2	liver
17	chr6:133091800-133119000	Weak transcription	Psoas Muscle	Psoas
18	chr6:133098400-133119000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr6:133098400-133119000	Weak transcription	Brain Substantia Nigra	brain
20	chr6:133098600-133118800	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr6:133100400-133118600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr6:133100400-133118800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr6:133100400-133119000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr6:133100600-133118000	Weak transcription	Small Intestine	intestine
25	chr6:133100600-133118200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr6:133100600-133118800	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr6:133100600-133118800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr6:133100600-133118800	Weak transcription	Rectal Smooth Muscle	rectum
29	chr6:133100600-133119000	Weak transcription	Aorta	Aorta
30	chr6:133100600-133119000	Weak transcription	Fetal Thymus	thymus
31	chr6:133100600-133119000	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr6:133101000-133118800	Weak transcription	Liver	Liver
33	chr6:133103000-133119000	Weak transcription	Fetal Muscle Trunk	muscle
34	chr6:133106400-133116600	Weak transcription	Fetal Lung	lung
35	chr6:133106400-133117000	Strong transcription	Primary B cells from cord blood	blood
36	chr6:133106600-133119200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr6:133106800-133118200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr6:133107600-133117000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
39	chr6:133108000-133116400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr6:133108000-133118200	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr6:133108600-133119200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr6:133108800-133118800	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr6:133109200-133118800	Weak transcription	A549	lung
44	chr6:133109800-133115800	Weak transcription	GM12878-XiMat	blood
45	chr6:133110200-133117000	Strong transcription	Duodenum Mucosa	Duodenum
46	chr6:133110200-133117000	Strong transcription	Rectal Mucosa Donor 29	rectum
47	chr6:133110600-133118800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr6:133110600-133119000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr6:133110800-133118200	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr6:133110800-133118800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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