Variant report

Variant	rs4350710
Chromosome Location	chr2:173194962-173194963
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs12996815	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35427086	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4246620	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4290625	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4395225	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4427989	0.81[CHD][hapmap]
rs6433351	0.92[ASW][hapmap];1.00[CEU][hapmap];0.83[CHD][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6714434	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6715062	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6717736	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6723279	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6728360	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6729717	0.80[ASN][1000 genomes]
rs6757748	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7425380	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7577264	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv3034	chr2:173160295-173200113	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv533927	chr2:173161637-173796894	Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4350710	DLX2	cis	cerebellum	SCAN

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173191200-173197800	Weak transcription	HSMMtube	muscle
2	chr2:173193000-173196000	Enhancers	Rectal Mucosa Donor 31	rectum
3	chr2:173193400-173195400	Enhancers	Fetal Muscle Leg	muscle
4	chr2:173193800-173195200	Enhancers	Colonic Mucosa	Colon
5	chr2:173193800-173195400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr2:173193800-173195400	Enhancers	Adipose Nuclei	Adipose
7	chr2:173193800-173195400	Enhancers	Lung	lung
8	chr2:173193800-173195400	Enhancers	Sigmoid Colon	Sigmoid Colon
9	chr2:173193800-173195400	Enhancers	Spleen	Spleen
10	chr2:173193800-173195800	Enhancers	Stomach Mucosa	stomach
11	chr2:173193800-173196000	Enhancers	Fetal Intestine Large	intestine
12	chr2:173193800-173196000	Enhancers	Pancreas	Pancrea
13	chr2:173193800-173196800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr2:173194000-173195000	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr2:173194000-173195400	Enhancers	Fetal Thymus	thymus
16	chr2:173194000-173195600	Enhancers	HepG2	liver
17	chr2:173194000-173195800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr2:173194000-173196200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr2:173194000-173196200	Enhancers	Fetal Intestine Small	intestine
20	chr2:173194000-173197600	Enhancers	Thymus	Thymus
21	chr2:173194200-173195200	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr2:173194200-173195400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr2:173194400-173195200	Enhancers	Ovary	ovary
24	chr2:173194400-173195200	Enhancers	HUVEC	blood vessel
25	chr2:173194400-173195400	Enhancers	Primary hematopoietic stem cells	blood
26	chr2:173194400-173195400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
27	chr2:173194400-173195400	Enhancers	Gastric	stomach
28	chr2:173194600-173195000	Enhancers	Rectal Mucosa Donor 29	rectum
29	chr2:173194600-173195200	Enhancers	Primary hematopoietic stem cells short term culture	blood
30	chr2:173194600-173195400	Enhancers	Primary monocytes fromperipheralblood	blood
31	chr2:173194600-173195400	Enhancers	Right Atrium	heart
32	chr2:173194800-173195000	Flanking Active TSS	Duodenum Mucosa	Duodenum
33	chr2:173194800-173195200	Enhancers	Fetal Lung	lung
34	chr2:173194800-173195400	Enhancers	Liver	Liver
35	chr2:173194800-173195400	Enhancers	Left Ventricle	heart
36	chr2:173194800-173195400	Enhancers	Psoas Muscle	Psoas
37	chr2:173194800-173195400	Enhancers	Right Ventricle	heart
38	chr2:173194800-173195400	Enhancers	Monocytes-CD14+_RO01746	blood
39	chr2:173194800-173197400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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