Variant report

Variant	rs4730982
Chromosome Location	chr7:120447460-120447461
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:120444604..120449026-chr7:120452675..120456263,4	K562	blood:
2	chr7:120446018..120447563-chr7:120973530..120975197,2	K562	blood:
3	chr7:120440526..120443320-chr7:120444759..120447483,2	MCF-7	breast:
4	chr7:120446174..120448984-chr7:120589651..120591429,2	MCF-7	breast:
5	chr7:120437232..120440783-chr7:120445669..120448518,3	K562	blood:
6	chr7:120446160..120448246-chr7:120632744..120634259,2	K562	blood:
7	chr7:120439283..120443487-chr7:120444760..120448518,4	K562	blood:
8	chr7:120446895..120449583-chr7:121501026..121502712,2	K562	blood:
9	chr7:120445313..120447921-chr7:120448553..120451279,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000071243	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10266755	0.91[CEU][hapmap];0.83[EUR][1000 genomes]
rs10274689	0.82[CEU][hapmap]
rs114420	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11976580	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs12154976	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes]
rs12673417	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17132731	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs17142976	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17143013	0.93[ASN][1000 genomes]
rs2107275	0.86[CEU][hapmap]
rs2189974	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.80[AFR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2525706	0.81[ASN][1000 genomes]
rs2525710	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs2721329	0.81[ASN][1000 genomes]
rs2721330	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs2721332	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2721344	0.93[ASN][1000 genomes]
rs2721346	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2721348	0.93[ASN][1000 genomes]
rs2721360	0.93[ASN][1000 genomes]
rs2721371	0.93[ASN][1000 genomes]
rs3823861	0.95[CEU][hapmap];0.81[EUR][1000 genomes]
rs41612	0.83[EUR][1000 genomes]
rs41613	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41616	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41617	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41622	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41623	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41624	0.95[CEU][hapmap]
rs41626	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41629	0.86[CEU][hapmap]
rs41632	0.95[CEU][hapmap];0.81[EUR][1000 genomes]
rs42333	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55733320	1.00[ASN][1000 genomes]
rs55749650	0.88[ASN][1000 genomes]
rs56023697	0.93[ASN][1000 genomes]
rs56067931	1.00[ASN][1000 genomes]
rs61481874	0.93[ASN][1000 genomes]
rs67679138	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6953454	0.82[CEU][hapmap]
rs73427871	0.93[ASN][1000 genomes]
rs73427873	0.93[ASN][1000 genomes]
rs73427878	0.93[ASN][1000 genomes]
rs73721472	0.94[ASN][1000 genomes]
rs7805733	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7810542	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs886440	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs996903	0.81[CEU][hapmap]

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
rs4730982	TSPAN12	cis	Artery Tibial	GTEx

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:120423000-120449200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr7:120425600-120470400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr7:120425800-120454400	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr7:120427400-120466000	Weak transcription	Fetal Stomach	stomach
5	chr7:120430400-120468200	Weak transcription	Duodenum Mucosa	Duodenum
6	chr7:120432600-120453800	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr7:120432600-120455400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr7:120432600-120468400	Weak transcription	Lung	lung
9	chr7:120439200-120457800	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr7:120439400-120469200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr7:120441200-120452600	Weak transcription	Fetal Intestine Small	intestine
12	chr7:120442000-120449600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr7:120442600-120457400	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr7:120443000-120488000	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr7:120443400-120448600	Weak transcription	Fetal Muscle Trunk	muscle
16	chr7:120444000-120457400	Weak transcription	Adipose Nuclei	Adipose
17	chr7:120445200-120494400	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr7:120445600-120447600	Enhancers	Fetal Heart	heart
19	chr7:120445600-120447800	Enhancers	Colon Smooth Muscle	Colon
20	chr7:120445800-120447800	Enhancers	Liver	Liver
21	chr7:120445800-120448600	Weak transcription	Fetal Intestine Large	intestine
22	chr7:120445800-120449400	Weak transcription	Fetal Muscle Leg	muscle
23	chr7:120446000-120476200	Weak transcription	Left Ventricle	heart
24	chr7:120446200-120449600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr7:120446400-120448400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr7:120446400-120448400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr7:120446400-120457800	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr7:120446800-120449400	Weak transcription	HUVEC	blood vessel
29	chr7:120446800-120462200	Weak transcription	GM12878-XiMat	blood
30	chr7:120447000-120451600	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr7:120447400-120449600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr7:120447400-120471400	Weak transcription	Fetal Kidney	kidney

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