Variant report

Variant	rs72671185
Chromosome Location	chr1:70034263-70034264
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12135776	0.84[EUR][1000 genomes]
rs12136180	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12407148	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1418014	0.82[EUR][1000 genomes]
rs4650008	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs71651420	0.81[EUR][1000 genomes]
rs7518765	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7536461	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[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	nsv949691	chr1:69749722-70302201	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	esv3384194	chr1:69885024-70275430	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv830126	chr1:70014879-70167979	Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:70032000-70036400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
2	chr1:70032200-70036800	Active TSS	Brain Inferior Temporal Lobe	brain
3	chr1:70032200-70038400	Active TSS	Brain Anterior Caudate	brain
4	chr1:70032400-70034800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
5	chr1:70032400-70035000	Active TSS	Psoas Muscle	Psoas
6	chr1:70032400-70035200	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
7	chr1:70032400-70035600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr1:70032400-70035600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr1:70032400-70036400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
10	chr1:70032400-70036400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
11	chr1:70032400-70036400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
12	chr1:70032400-70036400	Active TSS	Brain Cingulate Gyrus	brain
13	chr1:70032400-70036600	Active TSS	Brain Angular Gyrus	brain
14	chr1:70032400-70036600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
15	chr1:70032600-70034400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr1:70032600-70034400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
17	chr1:70032600-70034400	Bivalent/Poised TSS	Fetal Muscle Leg	muscle
18	chr1:70032600-70034600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
19	chr1:70032600-70034600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr1:70032600-70034600	Active TSS	Fetal Kidney	kidney
21	chr1:70032600-70034600	Active TSS	K562	blood
22	chr1:70032600-70035000	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr1:70032600-70035200	Bivalent/Poised TSS	Primary T cells from cord blood	blood
24	chr1:70032600-70035200	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
25	chr1:70032600-70035400	Active TSS	Pancreatic Islets	Pancreatic Islet
26	chr1:70032600-70035600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
27	chr1:70032600-70035600	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
28	chr1:70032600-70035600	Active TSS	Pancreas	Pancrea
29	chr1:70032600-70035800	Active TSS	Brain Substantia Nigra	brain
30	chr1:70032600-70036000	Bivalent/Poised TSS	Fetal Intestine Large	intestine
31	chr1:70032600-70036200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
32	chr1:70032600-70036200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
33	chr1:70032600-70036200	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr1:70032600-70036200	Active TSS	Right Atrium	heart
35	chr1:70032800-70034400	Flanking Active TSS	Primary hematopoietic stem cells	blood
36	chr1:70032800-70034600	Bivalent/Poised TSS	Thymus	Thymus
37	chr1:70032800-70035000	Bivalent/Poised TSS	NHLF	lung
38	chr1:70032800-70035400	Bivalent/Poised TSS	Primary T helper naive cells fromperipheralblood	blood
39	chr1:70032800-70035600	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
40	chr1:70032800-70035600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr1:70032800-70035600	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr1:70032800-70037600	Active TSS	Fetal Brain Male	brain
43	chr1:70033000-70034400	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
44	chr1:70033000-70034400	Bivalent/Poised TSS	HSMM	muscle
45	chr1:70033000-70034600	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr1:70033000-70034600	Bivalent/Poised TSS	Fetal Lung	lung
47	chr1:70033000-70034800	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
48	chr1:70033000-70035200	Bivalent/Poised TSS	Fetal Stomach	stomach
49	chr1:70033000-70036000	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
50	chr1:70033000-70036000	Bivalent/Poised TSS	Fetal Muscle Trunk	muscle

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