Variant report

Variant	rs73996122
Chromosome Location	chr2:234458996-234458997
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs58471039	1.00[AFR][1000 genomes]
rs6738048	1.00[AFR][1000 genomes]
rs73996108	1.00[AFR][1000 genomes]
rs73996123	0.91[AFR][1000 genomes]
rs73996125	0.95[AFR][1000 genomes]
rs73996126	0.91[AFR][1000 genomes]
rs73996127	0.95[AFR][1000 genomes]
rs73997632	0.82[AFR][1000 genomes]
rs73997636	0.82[AFR][1000 genomes]
rs7562104	0.82[AFR][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	nsv529419	chr2:234229606-234670426	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
2	nsv876013	chr2:234338227-234579915	Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	nsv428072	chr2:234393609-234624769	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234387400-234466000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr2:234402200-234472400	Weak transcription	Psoas Muscle	Psoas
3	chr2:234411600-234465600	Weak transcription	Thymus	Thymus
4	chr2:234413000-234474200	Weak transcription	Fetal Heart	heart
5	chr2:234414000-234461800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr2:234423200-234473400	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr2:234426200-234474000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr2:234427000-234466200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr2:234427400-234463800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr2:234428800-234474400	Weak transcription	Brain Germinal Matrix	brain
11	chr2:234430200-234473800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr2:234430800-234472800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr2:234432000-234467600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr2:234432200-234474800	Weak transcription	Spleen	Spleen
15	chr2:234432600-234474400	Weak transcription	Colonic Mucosa	Colon
16	chr2:234433000-234462600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr2:234434600-234466200	Weak transcription	Right Ventricle	heart
18	chr2:234437200-234474400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr2:234438000-234459800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr2:234440800-234465600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr2:234441200-234460400	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr2:234441600-234465800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr2:234441600-234466200	Weak transcription	Esophagus	oesophagus
24	chr2:234441600-234474800	Weak transcription	Gastric	stomach
25	chr2:234442400-234474400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr2:234442600-234459400	Weak transcription	Primary T helper cells PMA-I stimulated	--
27	chr2:234442600-234465600	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr2:234443400-234466000	Weak transcription	Fetal Brain Female	brain
29	chr2:234446800-234459400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr2:234447400-234464400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr2:234447800-234463800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr2:234447800-234474800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr2:234449400-234465200	Weak transcription	Dnd41	blood
34	chr2:234450200-234465400	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr2:234451200-234474200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
36	chr2:234451800-234462200	Weak transcription	NHLF	lung
37	chr2:234452600-234463200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr2:234453000-234466000	Strong transcription	Placenta	Placenta
39	chr2:234453200-234461600	Weak transcription	HUVEC	blood vessel
40	chr2:234453200-234463200	Strong transcription	NHDF-Ad	bronchial
41	chr2:234453200-234474400	Weak transcription	Small Intestine	intestine
42	chr2:234453400-234464200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr2:234453600-234465400	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr2:234453600-234465400	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr2:234453600-234474000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr2:234453800-234465800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr2:234454400-234459600	Weak transcription	Primary B cells from cord blood	blood
48	chr2:234454600-234459400	Weak transcription	Brain Angular Gyrus	brain
49	chr2:234454800-234461200	Weak transcription	Brain Substantia Nigra	brain
50	chr2:234454800-234466200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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