Variant report

Variant	rs17021365
Chromosome Location	chr4:147220868-147220869
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	chr4:147215452..147218404-chr4:147220056..147222242,2	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10519784	0.89[CEU][hapmap];0.90[CHB][hapmap];0.86[CHD][hapmap];0.94[JPT][hapmap];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10519786	0.89[CEU][hapmap];0.90[CHB][hapmap];0.90[CHD][hapmap];0.94[JPT][hapmap];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10519805	0.80[CEU][hapmap];0.91[CHB][hapmap];0.95[CHD][hapmap];0.94[JPT][hapmap];0.81[AMR][1000 genomes]
rs16998677	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17021340	0.89[CEU][hapmap];0.90[CHB][hapmap];0.90[CHD][hapmap];0.89[JPT][hapmap];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17021345	0.89[CEU][hapmap];0.90[CHB][hapmap];0.90[CHD][hapmap];0.94[JPT][hapmap];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17021355	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17021362	1.00[CEU][hapmap];0.84[JPT][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17021409	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2291379	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4561947	0.80[CEU][hapmap];0.91[CHB][hapmap];0.86[CHD][hapmap];0.94[JPT][hapmap];0.88[AMR][1000 genomes]
rs57305184	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs58203372	0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs58738547	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58800297	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58997046	0.81[AMR][1000 genomes]
rs59524631	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs59758996	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs59811977	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs59890707	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59916828	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59937090	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60175042	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs60862748	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61016468	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61219941	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv461675	chr4:147116864-147768206	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv595651	chr4:147116864-147768206	Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:147174400-147231200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr4:147175400-147225400	Weak transcription	Brain Hippocampus Middle	brain
3	chr4:147180400-147233200	Weak transcription	Liver	Liver
4	chr4:147198000-147224000	Weak transcription	Fetal Intestine Small	intestine
5	chr4:147201000-147224800	Weak transcription	HMEC	breast
6	chr4:147201000-147225400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr4:147201000-147249600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr4:147206200-147225400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr4:147207600-147226600	Weak transcription	Duodenum Mucosa	Duodenum
10	chr4:147208200-147232800	Weak transcription	Aorta	Aorta
11	chr4:147208200-147234200	Weak transcription	Lung	lung
12	chr4:147208200-147247000	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr4:147208400-147221600	Weak transcription	Pancreas	Pancrea
14	chr4:147208400-147222400	Weak transcription	Esophagus	oesophagus
15	chr4:147208400-147224000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr4:147208400-147228400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr4:147208400-147249200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr4:147208400-147254600	Weak transcription	Gastric	stomach
19	chr4:147208600-147254800	Weak transcription	Adipose Nuclei	Adipose
20	chr4:147209200-147249000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr4:147209400-147225800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr4:147209400-147227800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr4:147209400-147245600	Weak transcription	Primary T helper cells fromperipheralblood	blood
24	chr4:147209600-147222000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr4:147209600-147225400	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr4:147209600-147229200	Weak transcription	Ovary	ovary
27	chr4:147209800-147222600	Weak transcription	Primary T cells fromperipheralblood	blood
28	chr4:147210400-147227800	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr4:147212800-147229400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr4:147212800-147264200	Weak transcription	Primary hematopoietic stem cells	blood
31	chr4:147213400-147223600	Weak transcription	GM12878-XiMat	blood
32	chr4:147213600-147225400	Weak transcription	Primary B cells from cord blood	blood
33	chr4:147215600-147254800	Weak transcription	Primary T cells from cord blood	blood
34	chr4:147220600-147221000	Enhancers	Rectal Mucosa Donor 29	rectum
35	chr4:147220600-147221200	Enhancers	Sigmoid Colon	Sigmoid Colon

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