Variant report

Variant	rs34331064
Chromosome Location	chr1:62505616-62505617
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11799564	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12738455	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34435845	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7553347	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs991007	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][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	nsv518627	chr1:62279594-62517947	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv522020	chr1:62279594-62517947	Active TSS ZNF genes & repeats Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv1004446	chr1:62394631-62813533	Enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
4	nsv534984	chr1:62394631-62813533	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
5	nsv1001667	chr1:62407786-62649838	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:62409200-62518600	Weak transcription	Pancreas	Pancrea
2	chr1:62458800-62521400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr1:62459000-62516000	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr1:62459000-62530600	Weak transcription	Primary T helper cells PMA-I stimulated	--
5	chr1:62459200-62511200	Weak transcription	Gastric	stomach
6	chr1:62459200-62550000	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr1:62460000-62516400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr1:62460000-62544600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr1:62460200-62516000	Weak transcription	HMEC	breast
10	chr1:62469000-62533600	Weak transcription	Rectal Smooth Muscle	rectum
11	chr1:62474200-62518600	Weak transcription	Primary T cells from cord blood	blood
12	chr1:62480600-62513000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr1:62484400-62523000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr1:62484400-62562200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr1:62484600-62506000	Weak transcription	NHEK	skin
16	chr1:62484800-62511200	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr1:62486200-62517600	Weak transcription	Primary T helper cells fromperipheralblood	blood
18	chr1:62488400-62521200	Weak transcription	Ovary	ovary
19	chr1:62491800-62511200	Weak transcription	Psoas Muscle	Psoas
20	chr1:62494600-62511200	Weak transcription	Fetal Intestine Small	intestine
21	chr1:62494600-62524400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr1:62494600-62524400	Weak transcription	Esophagus	oesophagus
23	chr1:62495000-62515200	Weak transcription	Duodenum Mucosa	Duodenum
24	chr1:62495200-62516000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr1:62495200-62544800	Weak transcription	Liver	Liver
26	chr1:62497200-62515000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr1:62500000-62506400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr1:62500000-62515400	Weak transcription	Fetal Intestine Large	intestine
29	chr1:62500400-62511200	Weak transcription	Right Ventricle	heart
30	chr1:62500800-62511200	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr1:62501000-62506400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr1:62501600-62506400	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr1:62502200-62520600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr1:62503400-62509400	Weak transcription	Left Ventricle	heart
35	chr1:62503600-62520200	Weak transcription	Fetal Brain Male	brain
36	chr1:62503800-62506400	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr1:62504600-62506200	Enhancers	H9 Cell Line	embryonic stem cell
38	chr1:62504600-62507200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr1:62504800-62506000	Weak transcription	HepG2	liver
40	chr1:62504800-62506800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr1:62504800-62531400	Weak transcription	Aorta	Aorta
42	chr1:62505000-62506400	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr1:62505200-62505800	Strong transcription	Sigmoid Colon	Sigmoid Colon
44	chr1:62505200-62506200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr1:62505200-62507400	Enhancers	HUES48 Cell Line	embryonic stem cell
46	chr1:62505400-62506400	Enhancers	iPS-20b Cell Line	embryonic stem cell
47	chr1:62505400-62507000	Enhancers	HUES6 Cell Line	embryonic stem cell
48	chr1:62505400-62507200	Enhancers	H1 Cell Line	embryonic stem cell
49	chr1:62505400-62507200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr1:62505400-62516200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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