Variant report

Variant	rs72891067
Chromosome Location	chr2:64176873-64176874
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:64170689..64173594-chr2:64176755..64179622,2	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs59016830	1.00[AMR][1000 genomes]
rs60683040	1.00[AMR][1000 genomes]
rs72891005	1.00[AMR][1000 genomes]
rs72891027	1.00[AMR][1000 genomes]
rs72891091	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72893106	1.00[AMR][1000 genomes]
rs72893115	1.00[AMR][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	nsv1013375	chr2:63969820-64231550	ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv531376	chr2:64094322-64521876	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv521717	chr2:64104132-64186582	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv874236	chr2:64154215-64179235	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
5	nsv1002209	chr2:64160385-64238475	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:64114000-64212000	Weak transcription	Small Intestine	intestine
2	chr2:64129600-64201000	Weak transcription	Hela-S3	cervix
3	chr2:64130400-64211200	Weak transcription	Fetal Brain Male	brain
4	chr2:64137400-64204800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr2:64139800-64220600	Weak transcription	Brain Cingulate Gyrus	brain
6	chr2:64140400-64187600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr2:64140400-64188800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr2:64141200-64187600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr2:64141400-64189200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr2:64142800-64189200	Weak transcription	Brain Substantia Nigra	brain
11	chr2:64147600-64178000	Weak transcription	A549	lung
12	chr2:64154400-64202600	Weak transcription	Spleen	Spleen
13	chr2:64154600-64202600	Weak transcription	Pancreas	Pancrea
14	chr2:64154800-64177400	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr2:64154800-64242600	Weak transcription	Aorta	Aorta
16	chr2:64159200-64181400	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr2:64159600-64197800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr2:64159600-64211600	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr2:64162800-64183600	Weak transcription	HSMMtube	muscle
20	chr2:64163200-64207600	Weak transcription	HUVEC	blood vessel
21	chr2:64165600-64177000	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr2:64165600-64193600	Weak transcription	NHLF	lung
23	chr2:64165800-64202600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr2:64166800-64202600	Weak transcription	HMEC	breast
25	chr2:64167400-64178000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr2:64168400-64198000	Weak transcription	Fetal Heart	heart
27	chr2:64168600-64177000	Weak transcription	Colon Smooth Muscle	Colon
28	chr2:64168600-64188000	Weak transcription	NH-A	brain
29	chr2:64168600-64202600	Weak transcription	Esophagus	oesophagus
30	chr2:64168600-64202600	Weak transcription	K562	blood
31	chr2:64168800-64177000	Weak transcription	NHDF-Ad	bronchial
32	chr2:64168800-64178000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr2:64168800-64192800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr2:64168800-64195000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr2:64168800-64204800	Weak transcription	Psoas Muscle	Psoas
36	chr2:64169000-64178400	Weak transcription	Brain Anterior Caudate	brain
37	chr2:64169000-64189200	Weak transcription	Primary T cells fromperipheralblood	blood
38	chr2:64169000-64215000	Weak transcription	Brain Angular Gyrus	brain
39	chr2:64169600-64178800	Strong transcription	Cortex derived primary cultured neurospheres	brain
40	chr2:64170800-64178000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr2:64171400-64177800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr2:64171800-64194000	Weak transcription	NHEK	skin
43	chr2:64172000-64177400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr2:64172200-64181200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr2:64172800-64178200	Strong transcription	Liver	Liver
46	chr2:64173400-64177200	Strong transcription	HUES6 Cell Line	embryonic stem cell
47	chr2:64173600-64177800	Strong transcription	Fetal Lung	lung
48	chr2:64173600-64188600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr2:64173600-64189200	Weak transcription	Primary B cells from peripheral blood	blood
50	chr2:64173600-64202800	Weak transcription	Fetal Brain Female	brain

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