Variant report

Variant	rs2192323
Chromosome Location	chr2:210975598-210975599
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10048697	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1111193	1.00[YRI][hapmap]
rs1990513	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2080158	1.00[YRI][hapmap]
rs2243769	1.00[YRI][hapmap]
rs2539868	0.91[YRI][hapmap]
rs263671	0.83[YRI][hapmap]
rs263677	1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2887881	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58282165	0.82[AFR][1000 genomes]
rs58931716	0.82[AFR][1000 genomes]
rs6435553	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6739292	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73063910	0.82[AFR][1000 genomes]
rs73063916	0.82[AFR][1000 genomes]
rs73063929	0.82[AFR][1000 genomes]
rs73063945	0.82[AFR][1000 genomes]
rs73063963	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73065813	1.00[AMR][1000 genomes]
rs73065817	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv431969	chr2:210682494-211074494	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv1004426	chr2:210709999-211001680	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	esv1795338	chr2:210758078-211098113	Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	esv1802749	chr2:210905194-211255611	Strong transcription ZNF genes & repeats Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:210911600-210980800	Weak transcription	Pancreas	Pancrea
2	chr2:210921000-210977200	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr2:210921000-210980800	Weak transcription	Esophagus	oesophagus
4	chr2:210921200-210991200	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr2:210922000-210977600	Weak transcription	Fetal Lung	lung
6	chr2:210928200-210977400	Weak transcription	Aorta	Aorta
7	chr2:210928400-210977200	Weak transcription	Fetal Intestine Small	intestine
8	chr2:210928400-210977400	Weak transcription	Primary T cells from cord blood	blood
9	chr2:210928400-210980600	Weak transcription	Right Ventricle	heart
10	chr2:210929600-210977400	Weak transcription	Thymus	Thymus
11	chr2:210932000-210977200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr2:210940600-210977600	Weak transcription	Adipose Nuclei	Adipose
13	chr2:210949400-210977000	Weak transcription	Brain Substantia Nigra	brain
14	chr2:210951400-210977600	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr2:210952600-210977400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr2:210953400-210980800	Weak transcription	Gastric	stomach
17	chr2:210953600-210980600	Weak transcription	Left Ventricle	heart
18	chr2:210956000-210990200	Weak transcription	HSMMtube	muscle
19	chr2:210957200-210977400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr2:210959800-210977400	Weak transcription	Dnd41	blood
21	chr2:210960800-210980600	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr2:210961200-210977000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr2:210961200-210977600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr2:210963000-210977800	Weak transcription	Psoas Muscle	Psoas
25	chr2:210963000-210980800	Weak transcription	Lung	lung
26	chr2:210963200-210976800	Weak transcription	HSMM	muscle
27	chr2:210963200-210977400	Weak transcription	Fetal Intestine Large	intestine
28	chr2:210963200-210977600	Weak transcription	Spleen	Spleen
29	chr2:210963400-210977400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr2:210963400-210995600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr2:210964200-210977800	Weak transcription	Fetal Muscle Trunk	muscle
32	chr2:210964800-210977400	Weak transcription	Brain Germinal Matrix	brain
33	chr2:210965000-210977000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr2:210965000-210980600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr2:210965000-211009800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr2:210965200-210978200	Weak transcription	Brain Hippocampus Middle	brain
37	chr2:210965200-210980800	Weak transcription	Duodenum Mucosa	Duodenum
38	chr2:210965400-210977200	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr2:210965400-210977400	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr2:210965400-210977600	Weak transcription	Small Intestine	intestine
41	chr2:210966000-210977600	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr2:210966800-210977400	Weak transcription	Primary hematopoietic stem cells	blood
43	chr2:210966800-210980600	Weak transcription	Liver	Liver
44	chr2:210968400-210982000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr2:210969800-210977000	Weak transcription	Monocytes-CD14+_RO01746	blood
46	chr2:210969800-210977400	Weak transcription	Fetal Thymus	thymus
47	chr2:210971800-210977600	Weak transcription	Ovary	ovary
48	chr2:210973800-210980600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr2:210974200-210980600	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr2:210974600-210980800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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