Variant report

Variant	rs12512496
Chromosome Location	chr4:54181814-54181815
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	chr4:54174793..54178568-chr4:54179278..54182842,3	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs12505040	0.90[GIH][hapmap]
rs12509730	0.86[CEU][hapmap];0.85[MKK][hapmap];0.83[AMR][1000 genomes]
rs17082570	1.00[YRI][hapmap]
rs2164265	0.90[GIH][hapmap]
rs2271560	0.90[GIH][hapmap]
rs57599232	1.00[AFR][1000 genomes]
rs62324285	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62324290	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62324291	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62324294	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62324297	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62324336	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs62325035	0.90[EUR][1000 genomes]
rs62325039	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs62325042	0.87[EUR][1000 genomes]
rs62325049	0.94[EUR][1000 genomes]
rs62326404	0.94[EUR][1000 genomes]
rs6818457	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.89[EUR][1000 genomes]
rs6829104	0.94[EUR][1000 genomes]
rs6855607	0.90[GIH][hapmap]
rs7674799	0.86[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes]
rs7696930	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs9968254	1.00[YRI][hapmap]

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:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:54168200-54188000	Weak transcription	Left Ventricle	heart
2	chr4:54169200-54187800	Weak transcription	Liver	Liver
3	chr4:54169400-54187400	Weak transcription	Dnd41	blood
4	chr4:54169600-54187800	Weak transcription	Brain Angular Gyrus	brain
5	chr4:54169800-54187800	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr4:54169800-54216200	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr4:54170000-54183800	Weak transcription	Primary B cells from peripheral blood	blood
8	chr4:54170000-54186800	Weak transcription	HSMM	muscle
9	chr4:54170600-54187600	Weak transcription	K562	blood
10	chr4:54170600-54230600	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr4:54171200-54188000	Weak transcription	Esophagus	oesophagus
12	chr4:54171600-54187600	Weak transcription	Primary monocytes fromperipheralblood	blood
13	chr4:54172000-54188000	Weak transcription	Pancreas	Pancrea
14	chr4:54172000-54188000	Weak transcription	HepG2	liver
15	chr4:54172600-54215400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr4:54173000-54187600	Weak transcription	Brain Anterior Caudate	brain
17	chr4:54173200-54182000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr4:54173400-54186800	Weak transcription	NH-A	brain
19	chr4:54173600-54182200	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr4:54174200-54187200	Weak transcription	Adipose Nuclei	Adipose
21	chr4:54174200-54187400	Weak transcription	A549	lung
22	chr4:54174200-54212600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr4:54174800-54187400	Weak transcription	Primary hematopoietic stem cells	blood
24	chr4:54175800-54188000	Weak transcription	Ovary	ovary
25	chr4:54176400-54186200	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr4:54176400-54186200	Weak transcription	NHLF	lung
27	chr4:54176400-54187400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr4:54176600-54185800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr4:54176600-54187400	Weak transcription	Monocytes-CD14+_RO01746	blood
30	chr4:54176800-54182000	Weak transcription	Psoas Muscle	Psoas
31	chr4:54179800-54187200	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr4:54179800-54187200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr4:54180000-54182200	Enhancers	NHDF-Ad	bronchial
34	chr4:54180000-54193200	Weak transcription	GM12878-XiMat	blood
35	chr4:54180000-54212800	Weak transcription	Primary B cells from cord blood	blood
36	chr4:54180200-54182000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr4:54180400-54182000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr4:54180400-54182000	Enhancers	Brain Substantia Nigra	brain
39	chr4:54180600-54182000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr4:54180600-54182400	Enhancers	Cortex derived primary cultured neurospheres	brain
41	chr4:54181000-54182000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr4:54181200-54182000	Enhancers	Duodenum Mucosa	Duodenum
43	chr4:54181200-54182200	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr4:54181200-54182200	Enhancers	Primary hematopoietic stem cells short term culture	blood
45	chr4:54181200-54182400	Enhancers	Fetal Intestine Small	intestine
46	chr4:54181400-54182000	Enhancers	Brain Cingulate Gyrus	brain
47	chr4:54181400-54182000	Enhancers	Fetal Lung	lung
48	chr4:54181400-54182000	Enhancers	Sigmoid Colon	Sigmoid Colon
49	chr4:54181400-54182200	Enhancers	iPS-15b Cell Line	embryonic stem cell
50	chr4:54181400-54182200	Enhancers	iPS-20b Cell Line	embryonic stem cell

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