Variant report

Variant	rs72747039
Chromosome Location	chr1:211912494-211912495
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:211911684..211913397-chr1:211915130..211916644,2	K562	blood:

rs_ID	r²[population]
rs11119807	0.89[ASN][1000 genomes]
rs11119813	0.80[ASN][1000 genomes]
rs11487823	0.80[ASN][1000 genomes]
rs1157168	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12076991	0.80[ASN][1000 genomes]
rs12077561	0.80[ASN][1000 genomes]
rs12084756	0.89[ASN][1000 genomes]
rs12088743	0.89[ASN][1000 genomes]
rs12090490	0.80[ASN][1000 genomes]
rs12095938	0.89[ASN][1000 genomes]
rs12410970	0.89[ASN][1000 genomes]
rs3738197	0.80[ASN][1000 genomes]
rs3862952	0.89[ASN][1000 genomes]
rs61828246	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61828259	0.89[ASN][1000 genomes]
rs61828491	0.80[ASN][1000 genomes]
rs6540709	0.80[ASN][1000 genomes]
rs6664082	0.89[ASN][1000 genomes]
rs6684049	0.89[ASN][1000 genomes]
rs6704043	0.89[ASN][1000 genomes]
rs701910	0.87[EUR][1000 genomes]
rs72747051	0.83[ASN][1000 genomes]
rs7518896	0.80[ASN][1000 genomes]
rs7524009	0.89[ASN][1000 genomes]

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:211879200-211913600	Weak transcription	Right Atrium	heart
2	chr1:211904600-211912600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr1:211904600-211913800	Enhancers	Brain Inferior Temporal Lobe	brain
4	chr1:211904800-211913400	Enhancers	Brain Substantia Nigra	brain
5	chr1:211907000-211920800	Weak transcription	Aorta	Aorta
6	chr1:211907800-211914400	Enhancers	Brain Anterior Caudate	brain
7	chr1:211908000-211913200	Enhancers	Brain Angular Gyrus	brain
8	chr1:211908400-211912800	Enhancers	HMEC	breast
9	chr1:211908400-211913400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
10	chr1:211908800-211920800	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr1:211908800-211920800	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr1:211909200-211920200	Weak transcription	Fetal Intestine Large	intestine
13	chr1:211909200-211922200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr1:211909400-211920800	Weak transcription	Pancreas	Pancrea
15	chr1:211909400-211921000	Weak transcription	Duodenum Mucosa	Duodenum
16	chr1:211909400-211921600	Weak transcription	Fetal Intestine Small	intestine
17	chr1:211909400-211939200	Weak transcription	Ovary	ovary
18	chr1:211909600-211921400	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr1:211909600-211922000	Weak transcription	Placenta	Placenta
20	chr1:211909600-211922400	Weak transcription	HSMM	muscle
21	chr1:211909600-211923600	Weak transcription	NHDF-Ad	bronchial
22	chr1:211909600-211939400	Weak transcription	Esophagus	oesophagus
23	chr1:211909800-211912800	Enhancers	A549	lung
24	chr1:211909800-211915000	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr1:211909800-211919200	Enhancers	Brain Hippocampus Middle	brain
26	chr1:211909800-211919400	Enhancers	Brain Cingulate Gyrus	brain
27	chr1:211909800-211920000	Weak transcription	Adipose Nuclei	Adipose
28	chr1:211909800-211921400	Weak transcription	HSMMtube	muscle
29	chr1:211909800-211922200	Weak transcription	HUVEC	blood vessel
30	chr1:211910000-211914400	Enhancers	Fetal Thymus	thymus
31	chr1:211910000-211915000	Weak transcription	Hela-S3	cervix
32	chr1:211910200-211915600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr1:211910400-211913000	Enhancers	Primary T cells fromperipheralblood	blood
34	chr1:211910400-211914000	Enhancers	Primary T helper cells PMA-I stimulated	--
35	chr1:211910600-211913200	Enhancers	Primary hematopoietic stem cells short term culture	blood
36	chr1:211910600-211913400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr1:211910600-211913800	Enhancers	Primary T helper cells fromperipheralblood	blood
38	chr1:211910600-211914000	Enhancers	Thymus	Thymus
39	chr1:211910800-211914800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
40	chr1:211911000-211914200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
41	chr1:211911200-211917400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr1:211911200-211920200	Weak transcription	Fetal Muscle Leg	muscle
43	chr1:211911200-211920800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr1:211911400-211912800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr1:211911400-211912800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
46	chr1:211911400-211913200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
47	chr1:211911400-211914000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
48	chr1:211911400-211920200	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr1:211911600-211912600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
50	chr1:211911600-211912600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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