Variant report

Variant	rs12060836
Chromosome Location	chr1:114249324-114249325
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:114248976..114251078-chr1:114251119..114252692,3	MCF-7	breast:
2	chr1:114240657..114244104-chr1:114245278..114249575,4	MCF-7	breast:
3	chr1:114240356..114244592-chr1:114247076..114250656,5	K562	blood:

Variant related genes	Relation type
ENSG00000232450	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10858005	1.00[YRI][hapmap]
rs10858007	1.00[YRI][hapmap]
rs10858008	1.00[YRI][hapmap]
rs10858011	1.00[YRI][hapmap]
rs10858018	0.85[YRI][hapmap]
rs11102654	1.00[YRI][hapmap]
rs11102691	1.00[YRI][hapmap]
rs1146182	1.00[YRI][hapmap]
rs1146187	1.00[YRI][hapmap]
rs12069381	1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12071676	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12086805	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12094790	1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12095235	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1217377	0.85[YRI][hapmap]
rs1217380	0.85[YRI][hapmap]
rs1217388	0.85[YRI][hapmap]
rs1217389	0.85[YRI][hapmap]
rs1217395	0.85[YRI][hapmap]
rs1217396	0.85[YRI][hapmap]
rs1217410	0.85[YRI][hapmap]
rs1217412	0.85[YRI][hapmap]
rs1230640	1.00[YRI][hapmap]
rs1230645	1.00[YRI][hapmap]
rs1230647	1.00[YRI][hapmap]
rs1230649	1.00[YRI][hapmap]
rs1230658	1.00[YRI][hapmap]
rs1230659	1.00[YRI][hapmap]
rs12565589	1.00[YRI][hapmap]
rs1343125	1.00[YRI][hapmap]
rs1343128	1.00[YRI][hapmap]
rs1418958	1.00[YRI][hapmap]
rs2636013	1.00[YRI][hapmap]
rs7536360	1.00[YRI][hapmap]
rs9429730	0.85[YRI][hapmap]

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	nsv872161	chr1:114162194-114280135	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	esv2752424	chr1:114189958-114712958	Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	96 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:114203200-114298600	Weak transcription	Fetal Brain Male	brain
2	chr1:114216200-114279800	Weak transcription	Stomach Smooth Muscle	stomach
3	chr1:114216400-114250400	Weak transcription	Placenta	Placenta
4	chr1:114220400-114263800	Weak transcription	Fetal Kidney	kidney
5	chr1:114227000-114268200	Weak transcription	NHLF	lung
6	chr1:114227400-114252000	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr1:114228000-114287800	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr1:114228400-114249800	Weak transcription	Hela-S3	cervix
9	chr1:114231000-114251200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr1:114236400-114300000	Weak transcription	Small Intestine	intestine
11	chr1:114237400-114256600	Weak transcription	Colonic Mucosa	Colon
12	chr1:114238000-114251400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr1:114238000-114252800	Weak transcription	Duodenum Mucosa	Duodenum
14	chr1:114238000-114258200	Weak transcription	Fetal Heart	heart
15	chr1:114238200-114250200	Weak transcription	Brain Cingulate Gyrus	brain
16	chr1:114238200-114252200	Weak transcription	Fetal Brain Female	brain
17	chr1:114238200-114256000	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr1:114238200-114264400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr1:114238400-114266800	Weak transcription	NHEK	skin
20	chr1:114238800-114251000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr1:114238800-114252400	Weak transcription	Primary T cells fromperipheralblood	blood
22	chr1:114238800-114252800	Weak transcription	Fetal Intestine Large	intestine
23	chr1:114238800-114252800	Weak transcription	K562	blood
24	chr1:114239000-114260400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr1:114239200-114279800	Weak transcription	Colon Smooth Muscle	Colon
26	chr1:114239400-114258600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr1:114239600-114249800	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr1:114239800-114250800	Weak transcription	HepG2	liver
29	chr1:114240200-114260800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr1:114240200-114279400	Weak transcription	Psoas Muscle	Psoas
31	chr1:114242000-114300000	Weak transcription	Rectal Smooth Muscle	rectum
32	chr1:114242200-114249400	Weak transcription	Lung	lung
33	chr1:114242200-114249600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr1:114242200-114249600	Weak transcription	HSMM	muscle
35	chr1:114242200-114250000	Weak transcription	Brain Angular Gyrus	brain
36	chr1:114242200-114250200	Weak transcription	Left Ventricle	heart
37	chr1:114242200-114250400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr1:114242200-114250400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr1:114242200-114250400	Weak transcription	Brain Anterior Caudate	brain
40	chr1:114242200-114250400	Weak transcription	Fetal Muscle Trunk	muscle
41	chr1:114242200-114250800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr1:114242200-114250800	Weak transcription	Gastric	stomach
43	chr1:114242200-114250800	Weak transcription	Pancreas	Pancrea
44	chr1:114242200-114251200	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr1:114242200-114252000	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr1:114242200-114252000	Weak transcription	NHDF-Ad	bronchial
47	chr1:114242200-114252600	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr1:114242200-114252800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr1:114242200-114252800	Weak transcription	Fetal Intestine Small	intestine
50	chr1:114242200-114256200	Weak transcription	Brain Inferior Temporal Lobe	brain

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