Variant report

Variant	rs12154522
Chromosome Location	chr7:101506163-101506164
allele	C/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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:101457513..101462814-chr7:101502186..101506253,6	K562	blood:
2	chr7:101505683..101508584-chr7:101516146..101519244,4	K562	blood:
3	chr7:101505683..101508254-chr7:101516347..101519089,2	K562	blood:
4	chr7:101504728..101507277-chr7:101603065..101604646,2	K562	blood:
5	chr7:101456652..101459724-chr7:101504480..101506444,3	K562	blood:
6	chr7:101504130..101506941-chr7:101522541..101527065,4	K562	blood:
7	chr7:101498548..101502350-chr7:101502411..101507839,8	MCF-7	breast:
8	chr7:101498913..101502613-chr7:101503712..101508254,12	K562	blood:
9	chr7:101504883..101507489-chr7:101509006..101510849,2	MCF-7	breast:
10	chr7:101499113..101502991-chr7:101502997..101507438,12	K562	blood:
11	chr7:101457958..101462183-chr7:101502330..101506202,6	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000257923	Chromatin interaction
ENSG00000272219	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10953352	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10953353	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11760677	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11761496	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11765661	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11768652	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12154519	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62463725	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62463731	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62463732	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62463734	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62463736	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62463737	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6465837	1.00[CHB][hapmap];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933653	chr7:100701931-101515782	Active TSS ZNF genes & repeats Bivalent Enhancer Enhancers Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
2	nsv1024319	chr7:101368299-101668159	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
3	nsv539047	chr7:101368299-101668159	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
4	nsv1020372	chr7:101420819-101718950	Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:101500200-101506600	Enhancers	Fetal Heart	heart
2	chr7:101500200-101508400	Weak transcription	NHEK	skin
3	chr7:101500400-101508400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr7:101500400-101513400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr7:101500600-101508400	Weak transcription	Ovary	ovary
6	chr7:101500600-101511800	Weak transcription	Esophagus	oesophagus
7	chr7:101500600-101513200	Weak transcription	Aorta	Aorta
8	chr7:101500800-101511400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr7:101501000-101508400	Weak transcription	Primary T cells from cord blood	blood
10	chr7:101501000-101508400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr7:101501000-101510000	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr7:101501000-101511400	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr7:101501000-101511400	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr7:101501000-101511800	Weak transcription	Colonic Mucosa	Colon
15	chr7:101501000-101511800	Weak transcription	NHLF	lung
16	chr7:101501000-101513400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr7:101501000-101513400	Weak transcription	Osteobl	bone
18	chr7:101501000-101517600	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr7:101501000-101523600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr7:101501000-101525000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr7:101501200-101508600	Weak transcription	Hela-S3	cervix
22	chr7:101501200-101510600	Weak transcription	Primary T cells fromperipheralblood	blood
23	chr7:101501200-101511600	Weak transcription	Stomach Smooth Muscle	stomach
24	chr7:101501200-101512200	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr7:101501200-101512600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr7:101501400-101506200	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr7:101501600-101508400	Weak transcription	Dnd41	blood
28	chr7:101501800-101508400	Weak transcription	Gastric	stomach
29	chr7:101501800-101510200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr7:101501800-101511600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr7:101502000-101513000	Weak transcription	Brain Hippocampus Middle	brain
32	chr7:101502200-101506400	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr7:101502400-101506600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
34	chr7:101502400-101508200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr7:101502600-101508600	Weak transcription	Pancreas	Pancrea
36	chr7:101502600-101510600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr7:101502800-101512000	Weak transcription	Duodenum Mucosa	Duodenum
38	chr7:101503000-101511400	Weak transcription	Fetal Intestine Large	intestine
39	chr7:101503000-101513000	Weak transcription	Brain Angular Gyrus	brain
40	chr7:101503000-101513200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr7:101503200-101508400	Weak transcription	Primary hematopoietic stem cells	blood
42	chr7:101503200-101513200	Weak transcription	Brain Substantia Nigra	brain
43	chr7:101503400-101506200	Enhancers	H1 Cell Line	embryonic stem cell
44	chr7:101503400-101517400	Weak transcription	Primary B cells from cord blood	blood
45	chr7:101503600-101508400	Weak transcription	Fetal Stomach	stomach
46	chr7:101503800-101506200	Enhancers	Fetal Muscle Trunk	muscle
47	chr7:101503800-101508400	Weak transcription	Monocytes-CD14+_RO01746	blood
48	chr7:101504000-101511600	Weak transcription	Fetal Lung	lung
49	chr7:101504000-101513400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr7:101504000-101513400	Weak transcription	Rectal Smooth Muscle	rectum

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