Variant report

Variant	rs12711028
Chromosome Location	chr4:79525716-79525717
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:79520729..79523356-chr4:79524267..79526444,2	K562	blood:
2	chr4:79522884..79525832-chr4:79695803..79698616,2	K562	blood:
3	chr4:79514162..79516035-chr4:79524140..79525956,2	K562	blood:

Variant related genes	Relation type
ENSG00000138756	Chromatin interaction
ENSG00000138772	Chromatin interaction
ENSG00000260278	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10008069	0.85[CEU][hapmap]
rs10028815	1.00[CEU][hapmap];0.94[CHB][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10029214	0.95[CEU][hapmap];0.94[CHB][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10857035	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11098274	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11098275	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11098278	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11932080	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12510383	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12510411	0.91[CEU][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12639656	0.91[CEU][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12644222	0.81[EUR][1000 genomes]
rs13110339	0.94[CEU][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1532427	0.91[CEU][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1806906	0.81[CEU][hapmap]
rs28579596	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs34636970	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4254805	0.91[CEU][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4495064	0.95[CEU][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4612	0.95[CEU][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4645238	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs5944	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62308286	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6533827	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6533828	0.86[EUR][1000 genomes]
rs6817175	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6821449	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6822675	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6825328	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6842686	0.95[CEU][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6842723	0.95[CEU][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7656801	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7659978	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7672835	0.86[CEU][hapmap];0.80[EUR][1000 genomes]
rs7675464	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7675646	0.91[CEU][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7677783	0.90[CEU][hapmap];0.82[CHB][hapmap];0.83[AMR][1000 genomes];0.87[EUR][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	nsv1009633	chr4:78887573-79652236	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv967949	chr4:79511515-79527707	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:79474400-79527200	Weak transcription	Spleen	Spleen
2	chr4:79483000-79530000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr4:79488400-79527400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr4:79490800-79532600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr4:79491000-79529600	Weak transcription	Aorta	Aorta
6	chr4:79491200-79535400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr4:79491800-79533200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr4:79491800-79542600	Weak transcription	NH-A	brain
9	chr4:79492000-79531600	Strong transcription	HMEC	breast
10	chr4:79502200-79529200	Weak transcription	Colonic Mucosa	Colon
11	chr4:79502400-79525800	Weak transcription	Psoas Muscle	Psoas
12	chr4:79502400-79532200	Strong transcription	Primary neutrophils fromperipheralblood	blood
13	chr4:79508200-79533600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr4:79508800-79527000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr4:79508800-79527400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr4:79512600-79534200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr4:79512600-79536800	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr4:79513800-79534200	Strong transcription	NHEK	skin
19	chr4:79517200-79534800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr4:79518000-79548000	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr4:79518400-79528200	Strong transcription	Fetal Intestine Large	intestine
22	chr4:79518600-79543600	Weak transcription	Stomach Mucosa	stomach
23	chr4:79519200-79528400	Strong transcription	HUES6 Cell Line	embryonic stem cell
24	chr4:79521200-79527600	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr4:79521400-79529800	Weak transcription	Primary hematopoietic stem cells	blood
26	chr4:79521400-79534000	Weak transcription	Right Ventricle	heart
27	chr4:79522200-79526600	Strong transcription	HUES64 Cell Line	embryonic stem cell
28	chr4:79522200-79529600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr4:79522600-79531200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr4:79522600-79531600	Weak transcription	HSMMtube	muscle
31	chr4:79523600-79533800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
32	chr4:79523800-79528800	Strong transcription	Stomach Smooth Muscle	stomach
33	chr4:79524000-79527200	Weak transcription	Left Ventricle	heart
34	chr4:79524000-79528200	Weak transcription	Colon Smooth Muscle	Colon
35	chr4:79524200-79526400	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr4:79524200-79526800	Weak transcription	Fetal Intestine Small	intestine
37	chr4:79524200-79526800	Weak transcription	Fetal Stomach	stomach
38	chr4:79524200-79526800	Weak transcription	Gastric	stomach
39	chr4:79524200-79527000	Weak transcription	Esophagus	oesophagus
40	chr4:79524200-79527000	Weak transcription	Lung	lung
41	chr4:79524200-79527200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr4:79524200-79528800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr4:79524200-79529000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr4:79524200-79529800	Weak transcription	Fetal Heart	heart
45	chr4:79524200-79543400	Weak transcription	A549	lung
46	chr4:79524400-79530400	Weak transcription	Hela-S3	cervix
47	chr4:79524400-79532000	Weak transcription	Pancreas	Pancrea
48	chr4:79524400-79534000	Weak transcription	Placenta	Placenta
49	chr4:79524600-79527200	Weak transcription	Adipose Nuclei	Adipose
50	chr4:79524800-79530000	Weak transcription	Primary T cells from cord blood	blood

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