Variant report

Variant	rs7711330
Chromosome Location	chr5:81014301-81014302
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:81012199..81014802-chr5:81035367..81038326,2	K562	blood:
2	chr5:81013446..81015867-chr5:81016678..81018920,2	K562	blood:
3	chr5:81011299..81014307-chr5:81021484..81024524,3	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1373966	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1550804	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16899116	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4703839	0.99[ASN][1000 genomes]
rs62366307	1.00[ASN][1000 genomes]
rs62366308	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62366326	0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6860990	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6882480	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73139665	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73139667	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7702466	1.00[CHB][hapmap];1.00[JPT][hapmap];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	nsv882233	chr5:80849084-81049187	ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv830361	chr5:80909811-81080409	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	nsv830362	chr5:80990787-81184249	Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:80984200-81032000	Weak transcription	Esophagus	oesophagus
2	chr5:80984400-81015000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr5:80997800-81021600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr5:81000000-81015400	Weak transcription	Pancreas	Pancrea
5	chr5:81000400-81017000	Weak transcription	Fetal Muscle Trunk	muscle
6	chr5:81005200-81022000	Weak transcription	Brain Germinal Matrix	brain
7	chr5:81005400-81014400	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr5:81005400-81015000	Weak transcription	Brain Substantia Nigra	brain
9	chr5:81005400-81022000	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr5:81006200-81017600	Weak transcription	Fetal Brain Female	brain
11	chr5:81008200-81016200	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr5:81008800-81044800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr5:81010000-81022000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr5:81010800-81016000	Genic enhancers	Dnd41	blood
15	chr5:81011400-81015400	Weak transcription	Spleen	Spleen
16	chr5:81011600-81029800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr5:81012000-81015000	Weak transcription	Lung	lung
18	chr5:81013000-81014400	Enhancers	Muscle Satellite Cultured Cells	--
19	chr5:81013000-81014400	Weak transcription	Fetal Heart	heart
20	chr5:81013000-81014400	Enhancers	NH-A	brain
21	chr5:81013000-81014600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr5:81013000-81014600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr5:81013000-81014600	Enhancers	NHLF	lung
24	chr5:81013000-81014800	Enhancers	Osteobl	bone
25	chr5:81013000-81015800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr5:81013000-81016000	Enhancers	Ovary	ovary
27	chr5:81013000-81018000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
28	chr5:81013000-81018600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
29	chr5:81013200-81014400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr5:81013200-81014400	Enhancers	HSMM	muscle
31	chr5:81013200-81015400	Weak transcription	Aorta	Aorta
32	chr5:81013200-81015600	Weak transcription	Stomach Smooth Muscle	stomach
33	chr5:81013200-81017600	Enhancers	Primary T killer memory cells from peripheral blood	blood
34	chr5:81013400-81014400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr5:81013400-81014400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr5:81013400-81014400	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr5:81013400-81015000	Weak transcription	Thymus	Thymus
38	chr5:81013600-81014400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
39	chr5:81013600-81014400	Enhancers	Adipose Nuclei	Adipose
40	chr5:81013600-81014600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
41	chr5:81013600-81014800	Enhancers	Primary B cells from cord blood	blood
42	chr5:81013600-81015000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
43	chr5:81013600-81015200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr5:81013600-81015800	Enhancers	Primary B cells from peripheral blood	blood
45	chr5:81013600-81016000	Enhancers	HUES6 Cell Line	embryonic stem cell
46	chr5:81013600-81017000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr5:81013600-81018400	Enhancers	Primary T helper cells fromperipheralblood	blood
48	chr5:81013600-81019800	Enhancers	Colon Smooth Muscle	Colon
49	chr5:81013600-81021200	Enhancers	Primary T cells from cord blood	blood
50	chr5:81013800-81014800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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