Variant report

Variant	rs6964667
Chromosome Location	chr7:120467009-120467010
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:120466725..120468926-chr7:120474819..120476426,2	K562	blood:
2	chr7:120466453..120467996-chr7:120471169..120473699,2	K562	blood:

Extended variants
information (count: 48 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10225453	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10266755	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10274689	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10279837	0.90[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11982493	0.87[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12669167	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13231854	0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17142995	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2040762	0.84[ASN][1000 genomes]
rs2107275	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2107276	0.80[ASN][1000 genomes]
rs2524949	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2524951	0.83[ASN][1000 genomes]
rs2721343	0.90[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2721347	0.90[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2721364	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs3735467	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3779386	0.82[ASN][1000 genomes]
rs3814460	0.82[ASN][1000 genomes]
rs3823859	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3823861	0.84[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs41611	0.84[ASN][1000 genomes]
rs41621	0.89[ASN][1000 genomes]
rs41624	0.89[ASN][1000 genomes]
rs41627	0.89[ASN][1000 genomes]
rs41628	0.89[ASN][1000 genomes]
rs41629	0.90[ASN][1000 genomes]
rs41632	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4445165	0.91[ASN][1000 genomes]
rs55855220	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61452531	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs6466759	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6466760	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6466761	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6466762	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6953454	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6958947	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6959328	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6964786	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6971854	0.82[ASN][1000 genomes]
rs714259	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs73427805	0.82[ASN][1000 genomes]
rs73427866	0.87[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7781985	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7800318	0.80[ASN][1000 genomes]
rs7805211	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs996903	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[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	esv1818826	chr7:120405335-120622836	Strong transcription Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6964667	TSPAN12	cis	Esophagus Muscularis	GTEx
rs6964667	TSPAN12	cis	Artery Tibial	GTEx

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:120425600-120470400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr7:120430400-120468200	Weak transcription	Duodenum Mucosa	Duodenum
3	chr7:120432600-120468400	Weak transcription	Lung	lung
4	chr7:120439400-120469200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr7:120443000-120488000	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr7:120445200-120494400	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr7:120446000-120476200	Weak transcription	Left Ventricle	heart
8	chr7:120447400-120471400	Weak transcription	Fetal Kidney	kidney
9	chr7:120449800-120476000	Weak transcription	HUVEC	blood vessel
10	chr7:120450600-120470400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr7:120452800-120476000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr7:120455000-120467800	Weak transcription	Fetal Heart	heart
13	chr7:120455600-120468400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr7:120455600-120472200	Weak transcription	Fetal Muscle Trunk	muscle
15	chr7:120455800-120474400	Weak transcription	Fetal Intestine Large	intestine
16	chr7:120455800-120476000	Weak transcription	Fetal Muscle Leg	muscle
17	chr7:120458200-120468400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr7:120458400-120475800	Weak transcription	Fetal Intestine Small	intestine
19	chr7:120460400-120469400	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr7:120464000-120476000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr7:120465800-120468600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr7:120466000-120473600	Weak transcription	Fetal Lung	lung
23	chr7:120466000-120479600	Weak transcription	Ovary	ovary
24	chr7:120466200-120467400	Weak transcription	Liver	Liver
25	chr7:120466400-120470600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr7:120466600-120467800	Weak transcription	Colon Smooth Muscle	Colon
27	chr7:120466600-120468000	Weak transcription	Fetal Stomach	stomach
28	chr7:120466600-120476200	Weak transcription	Gastric	stomach
29	chr7:120466800-120482400	Weak transcription	Small Intestine	intestine
30	chr7:120467000-120476200	Weak transcription	H1 Cell Line	embryonic stem cell

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