Variant report

Variant	rs11981882
Chromosome Location	chr7:104673462-104673463
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:104672216..104674258-chr7:104678705..104680822,2	K562	blood:
2	chr7:104673376..104675042-chr7:104676149..104678178,2	K562	blood:
3	chr7:104672300..104674897-chr7:104678765..104680844,2	MCF-7	breast:

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs1011468	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10228174	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10247691	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10252714	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10263499	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1029596	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11978288	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12154942	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12534212	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12705296	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1558048	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17640472	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap]
rs17640508	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17707802	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2074753	0.85[CEU][hapmap];1.00[YRI][hapmap]
rs2097942	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2106500	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2299298	0.85[AFR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2299305	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2299309	0.85[CEU][hapmap]
rs4602821	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4727618	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56016333	1.00[ASN][1000 genomes]
rs6466035	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs66905828	0.82[ASN][1000 genomes]
rs67665940	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6947388	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6949073	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6950894	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6963395	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6972563	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6974874	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6976394	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6980244	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7784126	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7794036	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7794285	0.92[CEU][hapmap]
rs7796945	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs888086	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9918494	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029283	chr7:104571741-104729168	Strong transcription Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	132 gene(s)	inside rSNPs	diseases
2	nsv888927	chr7:104614664-104781644	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
3	nsv608068	chr7:104622402-104757483	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	132 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:104656600-104681800	Weak transcription	Fetal Muscle Trunk	muscle
2	chr7:104658600-104674000	Weak transcription	Fetal Thymus	thymus
3	chr7:104658600-104674200	Weak transcription	Fetal Muscle Leg	muscle
4	chr7:104658600-104681200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr7:104658600-104703800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr7:104658800-104681800	Weak transcription	Thymus	Thymus
7	chr7:104659800-104681200	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr7:104661800-104696000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr7:104663200-104679400	Weak transcription	Fetal Brain Female	brain
10	chr7:104664400-104681200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr7:104665200-104679200	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr7:104665400-104673800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr7:104665600-104675800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr7:104665600-104681600	Weak transcription	NH-A	brain
15	chr7:104665600-104682200	Weak transcription	HMEC	breast
16	chr7:104665600-104682200	Weak transcription	HSMMtube	muscle
17	chr7:104665800-104674400	Weak transcription	Osteobl	bone
18	chr7:104666000-104674400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr7:104666400-104674400	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr7:104666400-104674400	Weak transcription	HSMM	muscle
21	chr7:104666400-104679600	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr7:104666400-104681000	Weak transcription	NHEK	skin
23	chr7:104666400-104681200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr7:104666400-104681400	Weak transcription	Colonic Mucosa	Colon
25	chr7:104666600-104676800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr7:104666800-104681600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr7:104667000-104674400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr7:104667000-104674800	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr7:104667000-104681000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr7:104667000-104681200	Weak transcription	HepG2	liver
31	chr7:104667200-104674000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr7:104667400-104681000	Weak transcription	Hela-S3	cervix
33	chr7:104667800-104673600	Weak transcription	Primary neutrophils fromperipheralblood	blood
34	chr7:104667800-104676600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr7:104667800-104679400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr7:104668000-104673800	Weak transcription	Brain Substantia Nigra	brain
37	chr7:104668000-104674200	Weak transcription	Brain Angular Gyrus	brain
38	chr7:104668000-104674400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr7:104668000-104674400	Weak transcription	Rectal Smooth Muscle	rectum
40	chr7:104668000-104674400	Weak transcription	Dnd41	blood
41	chr7:104668000-104676400	Weak transcription	NHLF	lung
42	chr7:104668200-104677000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr7:104668200-104679400	Weak transcription	Fetal Lung	lung
44	chr7:104668200-104685000	Weak transcription	HUVEC	blood vessel
45	chr7:104669000-104674000	Weak transcription	Gastric	stomach
46	chr7:104669200-104674000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr7:104669200-104674000	Weak transcription	Primary monocytes fromperipheralblood	blood
48	chr7:104669200-104674000	Weak transcription	Ovary	ovary
49	chr7:104669200-104674000	Weak transcription	Right Ventricle	heart
50	chr7:104669200-104674200	Weak transcription	Brain Hippocampus Middle	brain

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