Variant report

Variant	rs6493164
Chromosome Location	chr15:45947206-45947207
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	YY1	chr15:45947017-45947257	K562	blood:	n/a	chr15:45947144-45947156
2	YY1	chr15:45946997-45947265	K562	blood:	n/a	chr15:45947144-45947156
3	YY1	chr15:45947024-45947264	H1-hESC	embryonic stem cell:	n/a	chr15:45947144-45947156
4	MAX	chr15:45947026-45947269	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:45940658..45942644-chr15:45946028..45948330,2	MCF-7	breast:
2	chr15:45945911..45948903-chr15:45960461..45962658,2	MCF-7	breast:

Variant related genes	Relation type
SQRDL	TF binding region

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11070461	0.89[ASN][1000 genomes]
rs11632553	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11637892	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11637946	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11637984	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12440208	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs187095	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2733246	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs353099	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3985920	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs625047	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6493165	0.82[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs66808613	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7174285	0.81[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs73422325	0.83[ASN][1000 genomes]
rs8039784	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][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	nsv904189	chr15:45821158-46298458	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv904190	chr15:45892672-45960897	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	27 gene(s)	inside rSNPs	n/a
3	nsv904191	chr15:45902779-46381874	Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:45933800-45951200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr15:45934200-45961600	Weak transcription	Fetal Kidney	kidney
3	chr15:45938400-45950400	Weak transcription	Brain Hippocampus Middle	brain
4	chr15:45938600-45951000	Weak transcription	Primary B cells from cord blood	blood
5	chr15:45938600-45952600	Weak transcription	Adipose Nuclei	Adipose
6	chr15:45938800-45949400	Weak transcription	Stomach Smooth Muscle	stomach
7	chr15:45938800-45954200	Weak transcription	Aorta	Aorta
8	chr15:45941400-45950600	Weak transcription	Primary T cells from cord blood	blood
9	chr15:45941600-45949400	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr15:45941600-45951800	Weak transcription	Thymus	Thymus
11	chr15:45941600-45952400	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr15:45941600-45952600	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr15:45941600-45954000	Weak transcription	Hela-S3	cervix
14	chr15:45941600-45966800	Weak transcription	NHLF	lung
15	chr15:45942200-45950800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr15:45942200-45951600	Weak transcription	NHEK	skin
17	chr15:45942600-45950600	Weak transcription	HMEC	breast
18	chr15:45942800-45949200	Weak transcription	Liver	Liver
19	chr15:45942800-45950800	Weak transcription	Primary T helper cells fromperipheralblood	blood
20	chr15:45942800-45951000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr15:45942800-45951800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr15:45942800-45952800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr15:45943200-45949400	Weak transcription	Fetal Stomach	stomach
24	chr15:45943600-45948200	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr15:45943800-45949000	Weak transcription	Fetal Intestine Large	intestine
26	chr15:45943800-45950400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr15:45943800-45950600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr15:45943800-45956600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr15:45944000-45950600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr15:45944200-45948400	Enhancers	Primary neutrophils fromperipheralblood	blood
31	chr15:45944400-45948600	Weak transcription	Fetal Intestine Small	intestine
32	chr15:45945000-45947600	Enhancers	Sigmoid Colon	Sigmoid Colon
33	chr15:45945200-45947800	Enhancers	Colon Smooth Muscle	Colon
34	chr15:45945400-45947400	Enhancers	Psoas Muscle	Psoas
35	chr15:45945600-45947600	Enhancers	Primary hematopoietic stem cells short term culture	blood
36	chr15:45945600-45947600	Enhancers	Stomach Mucosa	stomach
37	chr15:45945600-45951200	Weak transcription	Primary T helper cells PMA-I stimulated	--
38	chr15:45945800-45951200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr15:45945800-45953600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
40	chr15:45946000-45950600	Enhancers	Rectal Mucosa Donor 31	rectum
41	chr15:45946000-45951200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr15:45946200-45949200	Weak transcription	Colonic Mucosa	Colon
43	chr15:45946200-45949400	Weak transcription	Duodenum Mucosa	Duodenum
44	chr15:45946200-45949600	Weak transcription	Gastric	stomach
45	chr15:45946200-45949600	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr15:45946200-45950000	Weak transcription	Lung	lung
47	chr15:45946200-45950400	Weak transcription	Primary T cells fromperipheralblood	blood
48	chr15:45946200-45950600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr15:45946200-45951600	Weak transcription	Primary B cells from peripheral blood	blood
50	chr15:45946200-45952000	Weak transcription	Left Ventricle	heart

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