Variant report

Variant	rs73995976
Chromosome Location	chr2:234367148-234367149
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs60732790	0.80[AFR][1000 genomes]
rs6709877	0.80[AFR][1000 genomes]
rs73997605	0.80[AFR][1000 genomes]
rs73997609	0.84[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	nsv1000870	chr2:234333083-234410768	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	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

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234322400-234371800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:234339600-234394200	Weak transcription	HUVEC	blood vessel
3	chr2:234339800-234391400	Weak transcription	NHDF-Ad	bronchial
4	chr2:234343000-234393000	Strong transcription	Primary T cells from cord blood	blood
5	chr2:234343000-234402200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr2:234343200-234383000	Strong transcription	Primary neutrophils fromperipheralblood	blood
7	chr2:234343400-234368800	Strong transcription	Sigmoid Colon	Sigmoid Colon
8	chr2:234344000-234382000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
9	chr2:234344200-234382000	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr2:234344200-234382200	Strong transcription	Primary B cells from cord blood	blood
11	chr2:234344200-234382600	Strong transcription	Primary monocytes fromperipheralblood	blood
12	chr2:234344400-234381600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr2:234346600-234375000	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr2:234348000-234370800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr2:234350200-234377600	Strong transcription	Left Ventricle	heart
16	chr2:234350400-234374400	Strong transcription	Fetal Intestine Large	intestine
17	chr2:234352000-234367400	Strong transcription	Primary hematopoietic stem cells	blood
18	chr2:234352400-234368800	Strong transcription	Colonic Mucosa	Colon
19	chr2:234352400-234380800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr2:234352400-234382000	Strong transcription	Primary T helper cells fromperipheralblood	blood
21	chr2:234352600-234368800	Strong transcription	Duodenum Mucosa	Duodenum
22	chr2:234352600-234369000	Strong transcription	Brain Anterior Caudate	brain
23	chr2:234352600-234373600	Strong transcription	Primary T helper naive cells from peripheral blood	blood
24	chr2:234352600-234380800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
25	chr2:234352600-234380800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr2:234352600-234381400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr2:234352600-234381600	Strong transcription	Primary T helper cells PMA-I stimulated	--
28	chr2:234352600-234381800	Strong transcription	Rectal Mucosa Donor 29	rectum
29	chr2:234352600-234382600	Strong transcription	Primary B cells from peripheral blood	blood
30	chr2:234352600-234382600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr2:234352800-234382000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr2:234353000-234369000	Strong transcription	Brain Hippocampus Middle	brain
33	chr2:234353000-234378000	Strong transcription	Rectal Smooth Muscle	rectum
34	chr2:234353200-234369800	Strong transcription	Right Ventricle	heart
35	chr2:234353400-234368600	Strong transcription	Skeletal Muscle Male	skeletal muscle
36	chr2:234353400-234373600	Strong transcription	Aorta	Aorta
37	chr2:234353400-234379600	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr2:234353400-234381600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr2:234353600-234373800	Strong transcription	Dnd41	blood
40	chr2:234353600-234381800	Strong transcription	Primary T cells fromperipheralblood	blood
41	chr2:234353800-234372600	Strong transcription	Placenta	Placenta
42	chr2:234353800-234378000	Strong transcription	Fetal Stomach	stomach
43	chr2:234354000-234369200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr2:234354000-234373800	Strong transcription	Fetal Brain Female	brain
45	chr2:234354000-234377800	Weak transcription	Fetal Heart	heart
46	chr2:234354000-234381600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr2:234354200-234373400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr2:234355000-234377800	Strong transcription	Adipose Nuclei	Adipose
49	chr2:234356400-234374200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr2:234356800-234367400	Strong transcription	Pancreas	Pancrea

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