Variant report

Variant	rs11614147
Chromosome Location	chr12:123121706-123121707
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:123120054..123123996-chr12:123234682..123237075,4	MCF-7	breast:
2	chr12:123120793..123122502-chr12:123237496..123239283,2	MCF-7	breast:
3	chr12:123009865..123013304-chr12:123120249..123122722,3	MCF-7	breast:
4	chr12:123120555..123122561-chr12:123236567..123238548,2	K562	blood:
5	chr12:123120971..123123822-chr12:123241913..123244089,2	MCF-7	breast:
6	chr12:123118461..123125368-chr12:123234706..123239529,13	MCF-7	breast:
7	chr12:123010857..123012726-chr12:123119173..123121710,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000184445	Chromatin interaction
ENSG00000139726	Chromatin interaction
ENSG00000111011	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs1021705	0.81[CEU][hapmap]
rs10847170	0.96[AFR][1000 genomes]
rs10847329	0.96[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10847335	0.99[ASN][1000 genomes]
rs11058797	0.96[AFR][1000 genomes]
rs11058840	0.81[AMR][1000 genomes]
rs11059097	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11059237	0.97[ASN][1000 genomes]
rs11059257	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11059258	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11611668	1.00[YRI][hapmap]
rs11612869	0.81[AMR][1000 genomes]
rs11614277	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12821949	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2245199	0.97[ASN][1000 genomes]
rs2936731	0.88[ASN][1000 genomes]
rs34357107	0.92[ASN][1000 genomes]
rs35157148	0.98[ASN][1000 genomes]
rs35297311	0.98[ASN][1000 genomes]
rs59355577	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs612465	0.97[ASN][1000 genomes]
rs61955000	0.84[ASN][1000 genomes]
rs61956121	0.85[AFR][1000 genomes]
rs645348	0.97[ASN][1000 genomes]
rs6489179	0.97[ASN][1000 genomes]
rs7134265	0.96[ASN][1000 genomes]
rs73224116	0.98[ASN][1000 genomes]
rs73224188	0.97[ASN][1000 genomes]
rs7397194	0.97[ASN][1000 genomes]
rs7398147	0.97[ASN][1000 genomes]
rs7398861	0.96[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs7398939	0.96[AFR][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	nsv1054458	chr12:123045662-123133545	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123043800-123121800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:123077400-123137600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr12:123077600-123128200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr12:123088000-123122200	Weak transcription	HSMMtube	muscle
5	chr12:123097800-123122200	Weak transcription	Brain Substantia Nigra	brain
6	chr12:123099200-123122200	Weak transcription	Adipose Nuclei	Adipose
7	chr12:123101600-123131000	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr12:123105800-123122200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr12:123105800-123122400	Weak transcription	NH-A	brain
10	chr12:123105800-123124600	Weak transcription	Fetal Brain Female	brain
11	chr12:123107000-123122200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr12:123107800-123122200	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr12:123108000-123131400	Weak transcription	NHLF	lung
14	chr12:123108200-123124200	Weak transcription	HMEC	breast
15	chr12:123108400-123128600	Weak transcription	Placenta	Placenta
16	chr12:123108800-123122200	Weak transcription	Primary B cells from cord blood	blood
17	chr12:123109400-123128000	Weak transcription	Primary hematopoietic stem cells	blood
18	chr12:123110600-123128000	Weak transcription	NHDF-Ad	bronchial
19	chr12:123111600-123122000	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr12:123111600-123136200	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr12:123111800-123121800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr12:123111800-123122200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr12:123111800-123127600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr12:123112000-123122200	Weak transcription	Fetal Intestine Large	intestine
25	chr12:123112000-123123400	Weak transcription	Hela-S3	cervix
26	chr12:123112000-123126400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr12:123112000-123128400	Weak transcription	Primary T cells from cord blood	blood
28	chr12:123112200-123128200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr12:123112200-123130600	Weak transcription	Primary monocytes fromperipheralblood	blood
30	chr12:123112200-123131200	Weak transcription	Osteobl	bone
31	chr12:123112400-123121800	Weak transcription	Duodenum Mucosa	Duodenum
32	chr12:123112400-123126600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr12:123112400-123128200	Weak transcription	Primary neutrophils fromperipheralblood	blood
34	chr12:123112400-123129400	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr12:123112400-123131000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr12:123114600-123122200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr12:123114600-123127600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr12:123115000-123124600	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr12:123115000-123128000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr12:123115000-123131400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr12:123115800-123123600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr12:123116600-123122800	Weak transcription	Fetal Intestine Small	intestine
43	chr12:123117600-123127600	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr12:123118600-123122000	Weak transcription	HUVEC	blood vessel
45	chr12:123119000-123127800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr12:123119000-123128000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr12:123119200-123122200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr12:123119200-123126800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr12:123119200-123128800	Weak transcription	K562	blood
50	chr12:123119600-123128000	Weak transcription	HUES48 Cell Line	embryonic stem cell

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