Variant report

Variant	rs34519120
Chromosome Location	chr6:71451509-71451510
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11752509	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13196394	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13197338	0.98[EUR][1000 genomes]
rs13198627	0.81[EUR][1000 genomes]
rs13202113	0.99[EUR][1000 genomes]
rs13203355	0.98[EUR][1000 genomes]
rs13212771	0.96[EUR][1000 genomes]
rs17763077	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34336229	0.98[EUR][1000 genomes]
rs35293093	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35528153	0.84[ASN][1000 genomes]
rs4706459	0.87[ASN][1000 genomes]
rs4707848	0.84[ASN][1000 genomes]
rs67594983	0.85[ASN][1000 genomes]
rs68097508	0.86[EUR][1000 genomes]
rs9354939	0.89[ASN][1000 genomes]
rs9354940	0.94[ASN][1000 genomes]
rs9680	0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932111	chr6:70736835-71633094	Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv1027049	chr6:70961610-71561488	Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv524328	chr6:70961833-71558805	Flanking Bivalent TSS/Enh Active TSS Weak transcription Strong transcription ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv917312	chr6:70961903-71601688	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
5	nsv886147	chr6:71273253-71471863	Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:71428200-71476400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr6:71435800-71477600	Weak transcription	HSMM	muscle
3	chr6:71436200-71452200	Weak transcription	A549	lung
4	chr6:71436200-71453600	Weak transcription	Brain Substantia Nigra	brain
5	chr6:71436200-71470200	Weak transcription	NHDF-Ad	bronchial
6	chr6:71437200-71464800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr6:71438200-71453200	Weak transcription	Brain Anterior Caudate	brain
8	chr6:71438400-71452600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr6:71438400-71468000	Weak transcription	Colon Smooth Muscle	Colon
10	chr6:71438400-71474000	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr6:71439600-71474800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr6:71439800-71457000	Weak transcription	Right Ventricle	heart
13	chr6:71440400-71488800	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr6:71441800-71453000	Weak transcription	Colonic Mucosa	Colon
15	chr6:71441800-71474200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr6:71442400-71451600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr6:71442400-71453200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr6:71442400-71453600	Weak transcription	Spleen	Spleen
19	chr6:71442600-71453400	Weak transcription	Placenta	Placenta
20	chr6:71442800-71458800	Weak transcription	Stomach Smooth Muscle	stomach
21	chr6:71443200-71488800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr6:71443400-71466000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr6:71443600-71457000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr6:71444400-71452600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr6:71444400-71457000	Weak transcription	Aorta	Aorta
26	chr6:71444600-71464200	Weak transcription	Primary T helper cells fromperipheralblood	blood
27	chr6:71444800-71464200	Weak transcription	Primary T helper cells PMA-I stimulated	--
28	chr6:71444800-71523600	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr6:71445000-71464800	Weak transcription	Adipose Nuclei	Adipose
30	chr6:71445200-71465000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr6:71445200-71482200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr6:71445600-71474000	Weak transcription	Duodenum Mucosa	Duodenum
33	chr6:71447200-71452600	Weak transcription	Psoas Muscle	Psoas
34	chr6:71447800-71500600	Weak transcription	Brain Cingulate Gyrus	brain
35	chr6:71448000-71465400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr6:71448800-71451600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
37	chr6:71449000-71452400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr6:71449200-71453000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr6:71449800-71451600	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr6:71449800-71452000	ZNF genes & repeats	Fetal Intestine Small	intestine
41	chr6:71450000-71452200	Strong transcription	Primary T cells fromperipheralblood	blood
42	chr6:71450000-71452600	Strong transcription	Primary T cells from cord blood	blood
43	chr6:71450200-71451600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr6:71450200-71451800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
45	chr6:71450200-71452000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr6:71450400-71451800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr6:71450800-71451800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
48	chr6:71451000-71451600	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
49	chr6:71451000-71451600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr6:71451000-71451600	Strong transcription	Ovary	ovary

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