Variant report

Variant	rs7709071
Chromosome Location	chr5:80609291-80609292
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:80603897..80608830-chr5:80609104..80612341,4	K562	blood:
2	chr5:80599729..80604075-chr5:80605851..80609625,4	K562	blood:

Variant related genes	Relation type
ENSG00000131732	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10038684	0.83[ASN][1000 genomes]
rs10041063	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs10052929	0.82[CEU][hapmap]
rs10053706	0.83[ASN][1000 genomes]
rs10056565	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10063615	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10066296	0.83[ASN][1000 genomes]
rs10078279	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs10474656	0.83[ASN][1000 genomes]
rs10514213	1.00[CHB][hapmap]
rs1055383	1.00[CHB][hapmap];0.92[ASN][1000 genomes]
rs10942945	1.00[CHB][hapmap]
rs11950033	1.00[CHB][hapmap]
rs13362314	0.83[ASN][1000 genomes]
rs1566432	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs17294418	1.00[CHB][hapmap]
rs2173697	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2270823	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs2406556	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28464111	0.83[ASN][1000 genomes]
rs28650401	0.83[ASN][1000 genomes]
rs2897389	1.00[CHB][hapmap]
rs2897390	1.00[CHB][hapmap]
rs3756636	0.88[CEU][hapmap]
rs4703827	1.00[CHB][hapmap]
rs4704707	1.00[CHB][hapmap]
rs4704710	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs4704711	0.81[CEU][hapmap]
rs4704712	0.83[ASN][1000 genomes]
rs4704715	0.83[ASN][1000 genomes]
rs4704720	0.92[ASN][1000 genomes]
rs59132806	0.83[ASN][1000 genomes]
rs60488995	0.83[ASN][1000 genomes]
rs60904680	0.83[ASN][1000 genomes]
rs61244991	0.83[ASN][1000 genomes]
rs62365865	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68077638	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6866499	1.00[CHB][hapmap]
rs6867884	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6885028	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6893467	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs7709149	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7720009	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs7734902	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs921928	1.00[CHB][hapmap]
rs9293841	1.00[CHB][hapmap];0.83[ASN][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	nsv1024844	chr5:79862428-80860430	Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:80598200-80612400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr5:80598400-80611200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr5:80598600-80609600	Weak transcription	Gastric	stomach
4	chr5:80598600-80610000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr5:80598600-80611200	Weak transcription	Brain Anterior Caudate	brain
6	chr5:80598600-80611200	Weak transcription	Fetal Brain Male	brain
7	chr5:80598600-80611200	Weak transcription	Small Intestine	intestine
8	chr5:80598600-80611200	Weak transcription	Stomach Mucosa	stomach
9	chr5:80598600-80611800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr5:80598800-80611000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr5:80598800-80611200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr5:80599200-80610000	Weak transcription	Pancreas	Pancrea
13	chr5:80599200-80612200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr5:80599400-80610400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr5:80599600-80610600	Weak transcription	Fetal Heart	heart
16	chr5:80599600-80611200	Weak transcription	Brain Substantia Nigra	brain
17	chr5:80599800-80611400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr5:80601400-80611000	Weak transcription	Hela-S3	cervix
19	chr5:80601400-80612400	Weak transcription	Colon Smooth Muscle	Colon
20	chr5:80601400-80612400	Weak transcription	Thymus	Thymus
21	chr5:80601600-80611000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr5:80601600-80611200	Weak transcription	Colonic Mucosa	Colon
23	chr5:80601600-80611200	Weak transcription	Spleen	Spleen
24	chr5:80601600-80611600	Weak transcription	Esophagus	oesophagus
25	chr5:80601800-80610000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr5:80602000-80609800	Weak transcription	K562	blood
27	chr5:80604000-80609800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr5:80604200-80610000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr5:80604200-80610000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
30	chr5:80604200-80611200	Strong transcription	Monocytes-CD14+_RO01746	blood
31	chr5:80604200-80611400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr5:80604200-80611600	Strong transcription	Primary T cells from cord blood	blood
33	chr5:80604400-80609800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr5:80604400-80610000	Strong transcription	Primary T cells fromperipheralblood	blood
35	chr5:80604400-80610000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr5:80604400-80610000	Strong transcription	Duodenum Mucosa	Duodenum
37	chr5:80604400-80610200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr5:80604400-80610200	Strong transcription	HSMM	muscle
39	chr5:80604400-80610400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr5:80604400-80610600	Strong transcription	Primary T helper cells fromperipheralblood	blood
41	chr5:80604400-80610600	Strong transcription	Duodenum Smooth Muscle	Duodenum
42	chr5:80604400-80610600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr5:80604400-80610600	Strong transcription	Dnd41	blood
44	chr5:80604400-80610800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr5:80604400-80611000	Strong transcription	Primary monocytes fromperipheralblood	blood
46	chr5:80604400-80611200	Strong transcription	Fetal Thymus	thymus
47	chr5:80604800-80609800	Strong transcription	HUES48 Cell Line	embryonic stem cell
48	chr5:80604800-80609800	Strong transcription	Primary neutrophils fromperipheralblood	blood
49	chr5:80604800-80609800	Strong transcription	Primary T helper cells PMA-I stimulated	--
50	chr5:80604800-80609800	Strong transcription	Rectal Mucosa Donor 29	rectum

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