Variant report

Variant	rs7782552
Chromosome Location	chr7:120646897-120646898
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:120646087..120648520-chr7:120680329..120682630,2	K562	blood:
2	chr7:120591020..120592724-chr7:120645056..120647672,3	K562	blood:
3	chr7:120644958..120648520-chr7:120680179..120682620,4	K562	blood:
4	chr7:120646710..120649505-chr7:120714634..120717834,3	K562	blood:
5	chr7:120621518..120649031-chr7:120712706..120728931,108	K562	blood:

Variant related genes	Relation type
ENSG00000212628	Chromatin interaction
ENSG00000106034	Chromatin interaction
ENSG00000071243	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10245811	0.81[CHB][hapmap];0.81[JPT][hapmap]
rs10245939	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10257314	0.89[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10277935	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1080807	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10953923	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1118142	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12706305	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12706306	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17535702	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1981711	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2058501	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2244865	0.85[AFR][1000 genomes]
rs41690	0.90[YRI][hapmap];0.85[AFR][1000 genomes]
rs6944789	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6949989	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6956237	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6958635	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6960415	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7782014	0.82[CHB][hapmap]
rs7802665	0.81[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831114	chr7:120595624-120804510	Weak transcription Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv608327	chr7:120633006-120873078	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	esv2753621	chr7:120635049-120800049	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1030988	chr7:120636796-120672504	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv1023611	chr7:120638930-120881658	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv1025430	chr7:120638930-121179289	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7782552	TSPAN12	cis	Artery Tibial	GTEx

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:120637200-120647000	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr7:120637200-120663600	Weak transcription	Right Ventricle	heart
3	chr7:120642000-120647000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr7:120644600-120647000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr7:120644800-120647000	Weak transcription	Aorta	Aorta
6	chr7:120645800-120647200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr7:120645800-120647200	Enhancers	NHDF-Ad	bronchial
8	chr7:120645800-120647400	Enhancers	Fetal Stomach	stomach
9	chr7:120645800-120647400	Genic enhancers	HSMM	muscle
10	chr7:120645800-120647400	Enhancers	Osteobl	bone
11	chr7:120645800-120647800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr7:120645800-120648000	Enhancers	HSMMtube	muscle
13	chr7:120645800-120648000	Transcr. at gene 5' and 3'	K562	blood
14	chr7:120646000-120647200	Enhancers	Adipose Nuclei	Adipose
15	chr7:120646000-120647400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr7:120646000-120647400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr7:120646000-120647400	Enhancers	Liver	Liver
18	chr7:120646000-120647600	Enhancers	NHLF	lung
19	chr7:120646000-120648000	Enhancers	Fetal Lung	lung
20	chr7:120646000-120648600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr7:120646000-120649400	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr7:120646000-120650600	Enhancers	Skeletal Muscle Male	skeletal muscle
23	chr7:120646200-120647200	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr7:120646200-120647200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr7:120646200-120647400	Enhancers	Muscle Satellite Cultured Cells	--
26	chr7:120646400-120647200	Enhancers	Fetal Muscle Leg	muscle
27	chr7:120646400-120647200	Enhancers	NH-A	brain
28	chr7:120646400-120647400	Weak transcription	Brain Anterior Caudate	brain
29	chr7:120646400-120647600	Enhancers	Colon Smooth Muscle	Colon
30	chr7:120646400-120647800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr7:120646400-120648000	Enhancers	Monocytes-CD14+_RO01746	blood
32	chr7:120646600-120647200	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr7:120646600-120647200	Enhancers	Fetal Kidney	kidney
34	chr7:120646600-120647400	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr7:120646600-120647400	Enhancers	iPS-20b Cell Line	embryonic stem cell
36	chr7:120646600-120647400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr7:120646600-120647800	Enhancers	Primary monocytes fromperipheralblood	blood
38	chr7:120646600-120648000	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr7:120646600-120648000	Enhancers	Primary hematopoietic stem cells short term culture	blood
40	chr7:120646600-120648000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr7:120646600-120648000	Enhancers	Ovary	ovary
42	chr7:120646600-120648000	Enhancers	Psoas Muscle	Psoas
43	chr7:120646800-120647000	Enhancers	Right Atrium	heart
44	chr7:120646800-120647200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr7:120646800-120647200	Enhancers	iPS-15b Cell Line	embryonic stem cell
46	chr7:120646800-120647200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
47	chr7:120646800-120647200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr7:120646800-120647200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr7:120646800-120647200	Enhancers	Placenta	Placenta
50	chr7:120646800-120647200	Flanking Active TSS	Stomach Smooth Muscle	stomach

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