Variant report

Variant	rs34242651
Chromosome Location	chr2:172553999-172554000
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1028127	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10930491	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11690807	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12052995	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12997093	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12998411	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1607254	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17581284	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17614941	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2271758	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2292816	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34531723	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35854151	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3770458	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4510184	0.85[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs59844139	0.81[AMR][1000 genomes]
rs62184165	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6723259	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9789538	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv997638	chr2:172442205-172560406	Weak transcription Flanking Active TSS Genic enhancers Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs34242651	AC068039.4	cis	Thyroid	GTEx

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172545000-172580200	Weak transcription	Pancreas	Pancrea
2	chr2:172545000-172580400	Weak transcription	Spleen	Spleen
3	chr2:172545000-172580800	Weak transcription	Gastric	stomach
4	chr2:172545200-172611200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr2:172545400-172588000	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr2:172545800-172556600	Weak transcription	Ovary	ovary
7	chr2:172545800-172560200	Weak transcription	Rectal Smooth Muscle	rectum
8	chr2:172545800-172573000	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr2:172545800-172575400	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr2:172545800-172588000	Weak transcription	Right Ventricle	heart
11	chr2:172546000-172558600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr2:172546000-172559200	Weak transcription	Psoas Muscle	Psoas
13	chr2:172546000-172559800	Weak transcription	Fetal Heart	heart
14	chr2:172546000-172560600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr2:172546000-172563000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr2:172546000-172567800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr2:172546000-172568600	Weak transcription	Hela-S3	cervix
18	chr2:172546200-172558400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr2:172546400-172556600	Weak transcription	Fetal Kidney	kidney
20	chr2:172546400-172561200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr2:172546400-172574600	Weak transcription	Right Atrium	heart
22	chr2:172546600-172554800	Strong transcription	HSMM	muscle
23	chr2:172546600-172555400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr2:172546600-172602800	Weak transcription	Small Intestine	intestine
25	chr2:172546800-172554800	Strong transcription	HUES48 Cell Line	embryonic stem cell
26	chr2:172546800-172555000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr2:172546800-172555200	Strong transcription	Monocytes-CD14+_RO01746	blood
28	chr2:172546800-172555400	Strong transcription	Fetal Thymus	thymus
29	chr2:172546800-172560400	Weak transcription	Brain Angular Gyrus	brain
30	chr2:172547000-172554800	Strong transcription	NHDF-Ad	bronchial
31	chr2:172547000-172555000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr2:172547000-172555000	Strong transcription	Placenta	Placenta
33	chr2:172547000-172555400	Strong transcription	Primary T helper cells fromperipheralblood	blood
34	chr2:172547000-172578600	Weak transcription	Fetal Brain Male	brain
35	chr2:172547200-172554400	Strong transcription	Rectal Mucosa Donor 31	rectum
36	chr2:172547200-172554800	Strong transcription	Primary B cells from cord blood	blood
37	chr2:172547200-172554800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr2:172547200-172555000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr2:172547200-172555200	Strong transcription	Primary B cells from peripheral blood	blood
40	chr2:172547200-172555200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr2:172547200-172560000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr2:172547200-172561000	Strong transcription	Primary monocytes fromperipheralblood	blood
43	chr2:172547400-172555000	Strong transcription	Muscle Satellite Cultured Cells	--
44	chr2:172547800-172554600	Strong transcription	HUVEC	blood vessel
45	chr2:172547800-172554800	Strong transcription	K562	blood
46	chr2:172547800-172560400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr2:172548000-172555000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr2:172548200-172571800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
49	chr2:172548400-172579600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr2:172548800-172555600	Strong transcription	Primary neutrophils fromperipheralblood	blood

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