Variant report

Variant	rs72861447
Chromosome Location	chr1:10162951-10162952
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11801988	1.00[EUR][1000 genomes]
rs11803995	1.00[EUR][1000 genomes]
rs11808311	1.00[EUR][1000 genomes]
rs28671063	1.00[EUR][1000 genomes]
rs41280788	1.00[EUR][1000 genomes]
rs56682893	1.00[EUR][1000 genomes]
rs56760324	1.00[EUR][1000 genomes]
rs57216908	1.00[EUR][1000 genomes]
rs58453167	0.85[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs61134758	0.94[EUR][1000 genomes]
rs61462323	1.00[EUR][1000 genomes]
rs6676768	0.84[EUR][1000 genomes]
rs6693686	1.00[EUR][1000 genomes]
rs6701103	1.00[EUR][1000 genomes]
rs72859590	1.00[EUR][1000 genomes]
rs72861431	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72861453	1.00[EUR][1000 genomes]
rs9661116	1.00[EUR][1000 genomes]
rs9661131	1.00[EUR][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	esv3417409	chr1:9683992-10241703	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	nsv527217	chr1:10093457-10257167	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv522629	chr1:10125765-10239197	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:10107400-10165400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr1:10118200-10163000	Weak transcription	Aorta	Aorta
3	chr1:10120400-10163000	Weak transcription	Fetal Kidney	kidney
4	chr1:10125800-10165400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:10125800-10165400	Weak transcription	Fetal Brain Male	brain
6	chr1:10126400-10163000	Weak transcription	Pancreas	Pancrea
7	chr1:10126400-10165400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr1:10132400-10163000	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr1:10132600-10165400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr1:10134600-10166200	Weak transcription	Colonic Mucosa	Colon
11	chr1:10134600-10166600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr1:10134800-10163000	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr1:10135200-10164200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr1:10135200-10165400	Weak transcription	HUVEC	blood vessel
15	chr1:10135800-10164200	Weak transcription	NH-A	brain
16	chr1:10135800-10164200	Weak transcription	NHLF	lung
17	chr1:10136200-10164000	Weak transcription	Rectal Smooth Muscle	rectum
18	chr1:10137600-10165600	Weak transcription	Esophagus	oesophagus
19	chr1:10141000-10164200	Weak transcription	Fetal Brain Female	brain
20	chr1:10144000-10163000	Weak transcription	NHEK	skin
21	chr1:10144000-10165400	Weak transcription	HSMMtube	muscle
22	chr1:10144400-10163000	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr1:10144400-10164000	Weak transcription	Right Ventricle	heart
24	chr1:10145400-10164200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr1:10145400-10189600	Weak transcription	Psoas Muscle	Psoas
26	chr1:10145600-10163600	Weak transcription	Left Ventricle	heart
27	chr1:10145600-10164000	Weak transcription	Brain Cingulate Gyrus	brain
28	chr1:10145600-10164400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr1:10145600-10165400	Weak transcription	Brain Angular Gyrus	brain
30	chr1:10145600-10165400	Weak transcription	Fetal Heart	heart
31	chr1:10145800-10165400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr1:10145800-10197000	Weak transcription	Stomach Mucosa	stomach
33	chr1:10146400-10163000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr1:10150600-10163000	Weak transcription	Small Intestine	intestine
35	chr1:10153600-10164200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr1:10153800-10172200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr1:10154800-10172000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr1:10154800-10183000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
39	chr1:10155000-10171400	Strong transcription	Primary T cells fromperipheralblood	blood
40	chr1:10155200-10166400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr1:10156400-10164200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr1:10156400-10165400	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr1:10156600-10163000	Weak transcription	Brain Substantia Nigra	brain
44	chr1:10156600-10163000	Weak transcription	Colon Smooth Muscle	Colon
45	chr1:10156600-10163000	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr1:10156800-10165400	Weak transcription	Spleen	Spleen
47	chr1:10157200-10165600	Weak transcription	Pancreatic Islets	Pancreatic Islet
48	chr1:10157800-10163000	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr1:10157800-10165400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr1:10158400-10178000	Strong transcription	Primary T cells from cord blood	blood

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