Variant report

Variant	rs193727
Chromosome Location	chr7:120645604-120645605
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:120591020..120592724-chr7:120645056..120647672,3	K562	blood:
2	chr7:120644958..120648520-chr7:120680179..120682620,4	K562	blood:
3	chr7:120621518..120649031-chr7:120712706..120728931,108	K562	blood:
4	chr7:120624020..120645873-chr7:120713358..120727138,77	K562	blood:

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

Extended variants
information (count: 50 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10229719	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10258025	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12672149	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2013083	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2013087	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2215786	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2215789	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2525715	0.81[EUR][1000 genomes]
rs2525725	0.81[EUR][1000 genomes]
rs2525731	0.84[EUR][1000 genomes]
rs2525732	0.81[EUR][1000 genomes]
rs2525733	0.81[EUR][1000 genomes]
rs2525734	0.81[EUR][1000 genomes]
rs2525735	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2525736	0.81[EUR][1000 genomes]
rs2525738	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2525739	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2525740	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2525741	0.84[EUR][1000 genomes]
rs2721350	0.81[EUR][1000 genomes]
rs2721358	0.84[EUR][1000 genomes]
rs2721359	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2721361	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2721370	0.81[EUR][1000 genomes]
rs2896299	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3944026	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs41688	0.84[EUR][1000 genomes]
rs41689	0.84[EUR][1000 genomes]
rs41691	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41692	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41693	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41694	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41695	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41697	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41703	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs41704	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4727915	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4730985	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4730987	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6953795	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6966297	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6973457	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7789501	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7808535	0.87[EUR][1000 genomes]

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
rs193727	TSPAN12	cis	Artery Tibial	GTEx

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:120637000-120646800	Weak transcription	Placenta	Placenta
2	chr7:120637200-120647000	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr7:120637200-120663600	Weak transcription	Right Ventricle	heart
4	chr7:120640800-120646000	Weak transcription	Brain Anterior Caudate	brain
5	chr7:120642000-120647000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr7:120642600-120646400	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr7:120642600-120646600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr7:120642800-120645800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr7:120643200-120646000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr7:120643200-120646200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr7:120643200-120646600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr7:120643200-120646600	Weak transcription	Fetal Kidney	kidney
13	chr7:120643400-120646000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr7:120643600-120645800	Weak transcription	NHDF-Ad	bronchial
15	chr7:120643600-120646000	Weak transcription	Fetal Lung	lung
16	chr7:120643600-120646600	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr7:120643600-120646800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr7:120643600-120646800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr7:120644000-120646000	Weak transcription	Adipose Nuclei	Adipose
20	chr7:120644000-120646400	Weak transcription	NH-A	brain
21	chr7:120644200-120646000	Weak transcription	NHLF	lung
22	chr7:120644600-120646000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr7:120644600-120646000	Weak transcription	Psoas Muscle	Psoas
24	chr7:120644600-120646000	Weak transcription	Rectal Smooth Muscle	rectum
25	chr7:120644600-120646000	Weak transcription	Stomach Smooth Muscle	stomach
26	chr7:120644600-120646200	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr7:120644600-120646800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr7:120644600-120646800	Weak transcription	Right Atrium	heart
29	chr7:120644600-120646800	Weak transcription	Spleen	Spleen
30	chr7:120644600-120647000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr7:120644800-120645800	Weak transcription	Fetal Stomach	stomach
32	chr7:120644800-120645800	Weak transcription	HSMM	muscle
33	chr7:120644800-120645800	Weak transcription	HSMMtube	muscle
34	chr7:120644800-120645800	Strong transcription	K562	blood
35	chr7:120644800-120645800	Weak transcription	Osteobl	bone
36	chr7:120644800-120646000	Weak transcription	Ovary	ovary
37	chr7:120644800-120646000	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr7:120644800-120646400	Weak transcription	Colon Smooth Muscle	Colon
39	chr7:120644800-120646400	Weak transcription	Fetal Muscle Leg	muscle
40	chr7:120644800-120646800	Weak transcription	Left Ventricle	heart
41	chr7:120644800-120647000	Weak transcription	Aorta	Aorta
42	chr7:120645000-120646000	Weak transcription	Liver	Liver
43	chr7:120645000-120646000	Weak transcription	Skeletal Muscle Female	skeletal muscle

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