Variant report

Variant	rs62324297
Chromosome Location	chr4:54173133-54173134
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:54170671..54173423-chr4:54174162..54176514,4	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12512496	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57599232	1.00[AFR][1000 genomes]
rs62324285	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62324290	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62324291	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62324294	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62324336	1.00[AFR][1000 genomes]
rs62325035	0.89[EUR][1000 genomes]
rs62325039	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs62325042	0.85[EUR][1000 genomes]
rs62325049	0.92[EUR][1000 genomes]
rs62326404	0.92[EUR][1000 genomes]
rs6818457	0.91[EUR][1000 genomes]
rs6829104	0.92[EUR][1000 genomes]
rs7674799	0.89[EUR][1000 genomes]
rs7696930	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1008593	chr4:54120297-54207769	Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:54140200-54179000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:54164400-54177400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr4:54168200-54188000	Weak transcription	Left Ventricle	heart
4	chr4:54169200-54180000	Weak transcription	Brain Hippocampus Middle	brain
5	chr4:54169200-54187800	Weak transcription	Liver	Liver
6	chr4:54169400-54178600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr4:54169400-54187400	Weak transcription	Dnd41	blood
8	chr4:54169600-54173400	Weak transcription	GM12878-XiMat	blood
9	chr4:54169600-54187800	Weak transcription	Brain Angular Gyrus	brain
10	chr4:54169800-54181400	Weak transcription	Fetal Lung	lung
11	chr4:54169800-54181400	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr4:54169800-54187800	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr4:54169800-54216200	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr4:54170000-54181400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr4:54170000-54183800	Weak transcription	Primary B cells from peripheral blood	blood
16	chr4:54170000-54186800	Weak transcription	HSMM	muscle
17	chr4:54170600-54187600	Weak transcription	K562	blood
18	chr4:54170600-54230600	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr4:54170800-54173200	Weak transcription	Primary hematopoietic stem cells	blood
20	chr4:54170800-54174000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr4:54170800-54174000	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr4:54170800-54181400	Weak transcription	Fetal Thymus	thymus
23	chr4:54171200-54179200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr4:54171200-54188000	Weak transcription	Esophagus	oesophagus
25	chr4:54171600-54181200	Weak transcription	Duodenum Mucosa	Duodenum
26	chr4:54171600-54181400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr4:54171600-54181400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr4:54171600-54187600	Weak transcription	Primary monocytes fromperipheralblood	blood
29	chr4:54171800-54173800	Weak transcription	Adipose Nuclei	Adipose
30	chr4:54171800-54177600	Weak transcription	Primary T cells fromperipheralblood	blood
31	chr4:54171800-54181400	Weak transcription	Brain Cingulate Gyrus	brain
32	chr4:54172000-54173400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr4:54172000-54176400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr4:54172000-54181200	Weak transcription	Fetal Intestine Small	intestine
35	chr4:54172000-54188000	Weak transcription	Pancreas	Pancrea
36	chr4:54172000-54188000	Weak transcription	HepG2	liver
37	chr4:54172200-54173200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr4:54172200-54174200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr4:54172200-54174600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr4:54172200-54180800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr4:54172200-54181800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr4:54172400-54174200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr4:54172400-54174200	Strong transcription	Primary T cells from cord blood	blood
44	chr4:54172400-54174600	Weak transcription	Ovary	ovary
45	chr4:54172400-54175600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr4:54172600-54215400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr4:54172800-54173200	Enhancers	Gastric	stomach
48	chr4:54172800-54173400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr4:54172800-54173400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr4:54172800-54173400	Enhancers	NH-A	brain

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