Variant report

Variant	rs55855220
Chromosome Location	chr7:120456971-120456972
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:120452971..120457036-chr7:120458854..120462116,5	K562	blood:
2	chr7:120454100..120457036-chr7:120458854..120461460,2	K562	blood:

Extended variants
information (count: 54 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10225453	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10266755	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10274689	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10279837	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10953922	0.80[ASN][1000 genomes]
rs11982493	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12669167	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13231854	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17142995	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2040762	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2107275	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2107276	0.82[ASN][1000 genomes]
rs2524949	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2524951	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2525709	0.80[ASN][1000 genomes]
rs2525743	0.80[ASN][1000 genomes]
rs2721341	0.80[ASN][1000 genomes]
rs2721343	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2721347	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2721364	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs3735467	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3779386	0.84[ASN][1000 genomes]
rs3814460	0.84[ASN][1000 genomes]
rs3823859	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3823861	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs41611	0.86[ASN][1000 genomes]
rs41621	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs41624	0.91[ASN][1000 genomes]
rs41627	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs41628	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs41629	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs41631	0.81[ASN][1000 genomes]
rs41632	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4445165	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61452531	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs6466759	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6466760	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6466761	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6466762	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6953454	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6958947	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6959328	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6964667	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6964786	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6971854	0.84[ASN][1000 genomes]
rs714259	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73427805	0.84[ASN][1000 genomes]
rs73427866	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs745167	0.80[ASN][1000 genomes]
rs7781985	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7800318	0.82[ASN][1000 genomes]
rs7805211	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs996903	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs55855220	TSPAN12	cis	Artery Tibial	GTEx

Chromatin state (count:31 , 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	chr7:120427400-120466000	Weak transcription	Fetal Stomach	stomach
3	chr7:120430400-120468200	Weak transcription	Duodenum Mucosa	Duodenum
4	chr7:120432600-120468400	Weak transcription	Lung	lung
5	chr7:120439200-120457800	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr7:120439400-120469200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr7:120442600-120457400	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr7:120443000-120488000	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr7:120444000-120457400	Weak transcription	Adipose Nuclei	Adipose
10	chr7:120445200-120494400	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr7:120446000-120476200	Weak transcription	Left Ventricle	heart
12	chr7:120446400-120457800	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr7:120446800-120462200	Weak transcription	GM12878-XiMat	blood
14	chr7:120447400-120471400	Weak transcription	Fetal Kidney	kidney
15	chr7:120447800-120465600	Weak transcription	Liver	Liver
16	chr7:120448400-120457400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr7:120449800-120457600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr7:120449800-120476000	Weak transcription	HUVEC	blood vessel
19	chr7:120450600-120470400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr7:120452800-120476000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr7:120455000-120465800	Weak transcription	Colon Smooth Muscle	Colon
22	chr7:120455000-120467800	Weak transcription	Fetal Heart	heart
23	chr7:120455600-120457600	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr7:120455600-120468400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr7:120455600-120472200	Weak transcription	Fetal Muscle Trunk	muscle
26	chr7:120455800-120457600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr7:120455800-120465800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr7:120455800-120474400	Weak transcription	Fetal Intestine Large	intestine
29	chr7:120455800-120476000	Weak transcription	Fetal Muscle Leg	muscle
30	chr7:120456600-120457000	Enhancers	Fetal Intestine Small	intestine
31	chr7:120456800-120457200	Enhancers	iPS-15b Cell Line	embryonic stem cell

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