Variant report

Variant	rs2254418
Chromosome Location	chr1:95427877-95427878
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	chr1:95416169..95418622-chr1:95427478..95429036,2	K562	blood:
2	chr1:95417122..95419452-chr1:95427536..95429071,2	K562	blood:

rs_ID	r²[population]
rs10465759	0.86[JPT][hapmap]
rs11165297	0.80[JPT][hapmap]
rs11590106	0.80[JPT][hapmap]
rs11801110	0.85[JPT][hapmap]
rs12751633	0.80[JPT][hapmap]
rs12755096	0.80[JPT][hapmap]
rs12760863	0.80[JPT][hapmap]
rs17112770	1.00[CEU][hapmap];0.81[MEX][hapmap];0.90[TSI][hapmap]
rs17112857	1.00[CEU][hapmap];0.87[JPT][hapmap];0.88[EUR][1000 genomes]
rs2391390	1.00[CEU][hapmap];0.86[CHD][hapmap];1.00[GIH][hapmap];0.87[JPT][hapmap];0.81[TSI][hapmap];0.92[EUR][1000 genomes]
rs3890785	0.87[JPT][hapmap]
rs4131811	0.80[JPT][hapmap]
rs6662345	0.87[JPT][hapmap]
rs6674467	0.85[JPT][hapmap]
rs6674604	0.80[JPT][hapmap]
rs6678809	0.87[JPT][hapmap]
rs6679106	0.87[JPT][hapmap]
rs6684137	0.87[JPT][hapmap]
rs6687351	0.87[JPT][hapmap]
rs7540821	0.80[JPT][hapmap]
rs884821	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:95415800-95428400	Weak transcription	Lung	lung
2	chr1:95421600-95428200	Weak transcription	Aorta	Aorta
3	chr1:95421600-95428200	Weak transcription	Fetal Kidney	kidney
4	chr1:95421600-95429200	Weak transcription	Fetal Muscle Trunk	muscle
5	chr1:95421600-95429600	Weak transcription	Spleen	Spleen
6	chr1:95421800-95428200	Weak transcription	Right Ventricle	heart
7	chr1:95421800-95428200	Weak transcription	Stomach Smooth Muscle	stomach
8	chr1:95421800-95428400	Weak transcription	Left Ventricle	heart
9	chr1:95422000-95428200	Weak transcription	Rectal Smooth Muscle	rectum
10	chr1:95422000-95428600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr1:95422000-95450800	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr1:95422800-95428600	Weak transcription	Esophagus	oesophagus
13	chr1:95423600-95428200	Weak transcription	Fetal Heart	heart
14	chr1:95426000-95428000	Enhancers	Primary B cells from peripheral blood	blood
15	chr1:95426000-95428200	Enhancers	Placenta	Placenta
16	chr1:95426200-95428200	Enhancers	Fetal Muscle Leg	muscle
17	chr1:95426200-95428200	Enhancers	Fetal Thymus	thymus
18	chr1:95426400-95428200	Weak transcription	Small Intestine	intestine
19	chr1:95426400-95428400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr1:95426600-95428000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr1:95426600-95428200	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr1:95426800-95428000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr1:95426800-95428000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr1:95426800-95428000	Enhancers	Primary T cells from cord blood	blood
25	chr1:95426800-95428000	Enhancers	Primary hematopoietic stem cells	blood
26	chr1:95426800-95428000	Enhancers	Primary T helper cells PMA-I stimulated	--
27	chr1:95426800-95428000	Enhancers	Primary T helper cells fromperipheralblood	blood
28	chr1:95426800-95428000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr1:95426800-95428000	Enhancers	Adipose Nuclei	Adipose
30	chr1:95426800-95428000	Enhancers	Monocytes-CD14+_RO01746	blood
31	chr1:95426800-95428200	Enhancers	Primary hematopoietic stem cells short term culture	blood
32	chr1:95426800-95428200	Enhancers	Liver	Liver
33	chr1:95426800-95428200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
34	chr1:95427000-95428000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
35	chr1:95427000-95428000	Enhancers	Duodenum Mucosa	Duodenum
36	chr1:95427000-95428200	Weak transcription	Psoas Muscle	Psoas
37	chr1:95427000-95428200	Enhancers	Dnd41	blood
38	chr1:95427000-95429200	Enhancers	Fetal Intestine Small	intestine
39	chr1:95427200-95428200	Enhancers	Stomach Mucosa	stomach
40	chr1:95427400-95428000	Enhancers	Duodenum Smooth Muscle	Duodenum
41	chr1:95427400-95428000	Enhancers	Rectal Mucosa Donor 31	rectum
42	chr1:95427400-95428200	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr1:95427400-95428200	Enhancers	A549	lung
44	chr1:95427400-95428200	Enhancers	HSMMtube	muscle
45	chr1:95427600-95428000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr1:95427600-95428000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
47	chr1:95427600-95428000	Enhancers	Primary T killer memory cells from peripheral blood	blood
48	chr1:95427600-95428000	Enhancers	Brain Anterior Caudate	brain
49	chr1:95427600-95428000	Enhancers	Colonic Mucosa	Colon
50	chr1:95427600-95428000	Enhancers	Pancreatic Islets	Pancreatic Islet

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