Variant report

Variant	rs11363
Chromosome Location	chr7:120617012-120617013
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:120616082..120617788-chr7:120647461..120650370,2	K562	blood:
2	chr7:120614613..120620636-chr7:120722021..120725742,5	K562	blood:
3	chr7:120611920..120613871-chr7:120614281..120617213,2	K562	blood:

Variant related genes	Relation type
ENSG00000212628	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10229719	0.81[EUR][1000 genomes]
rs10258025	0.83[EUR][1000 genomes]
rs13881	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2074576	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2215786	0.82[EUR][1000 genomes]
rs2525711	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2525714	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2525715	0.96[EUR][1000 genomes]
rs2525716	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2525717	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2525718	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2525720	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2525722	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2525723	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2525724	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2525725	0.96[EUR][1000 genomes]
rs2525726	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2525728	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2525731	0.96[EUR][1000 genomes]
rs2525732	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2525733	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2525734	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2525735	0.84[EUR][1000 genomes]
rs2525738	0.81[EUR][1000 genomes]
rs2525739	0.81[EUR][1000 genomes]
rs2525740	0.81[EUR][1000 genomes]
rs2721350	0.96[EUR][1000 genomes]
rs2721351	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2721359	0.81[EUR][1000 genomes]
rs2721361	0.81[EUR][1000 genomes]
rs2721366	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2721368	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2721370	0.96[EUR][1000 genomes]
rs3944026	0.86[EUR][1000 genomes]
rs41703	0.83[EUR][1000 genomes]
rs41704	0.83[EUR][1000 genomes]
rs4727915	0.81[EUR][1000 genomes]
rs4730985	0.81[EUR][1000 genomes]
rs6966297	0.89[EUR][1000 genomes]
rs6973457	0.86[EUR][1000 genomes]
rs7789501	0.81[EUR][1000 genomes]
rs7808535	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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
2	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11363	TSPAN12	cis	Artery Tibial	GTEx

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:120591600-120627800	Weak transcription	Pancreas	Pancrea
2	chr7:120591800-120618600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr7:120592400-120618600	Weak transcription	Right Ventricle	heart
4	chr7:120592400-120621600	Weak transcription	Aorta	Aorta
5	chr7:120592400-120628000	Weak transcription	Stomach Mucosa	stomach
6	chr7:120602600-120617200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr7:120603000-120618000	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr7:120603200-120618000	Strong transcription	Fetal Thymus	thymus
9	chr7:120603400-120617200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr7:120604400-120617200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
11	chr7:120604400-120617400	Strong transcription	Rectal Mucosa Donor 31	rectum
12	chr7:120604400-120621800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr7:120604600-120617400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr7:120604600-120617400	Strong transcription	Primary B cells from peripheral blood	blood
15	chr7:120604600-120617400	Strong transcription	Liver	Liver
16	chr7:120604600-120617400	Strong transcription	HSMM	muscle
17	chr7:120604800-120617200	Strong transcription	Adipose Nuclei	Adipose
18	chr7:120604800-120617200	Strong transcription	Duodenum Mucosa	Duodenum
19	chr7:120604800-120617400	Strong transcription	Placenta	Placenta
20	chr7:120604800-120617400	Strong transcription	HUVEC	blood vessel
21	chr7:120606000-120617200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr7:120608200-120621800	Weak transcription	NHEK	skin
23	chr7:120608600-120617400	Weak transcription	Ovary	ovary
24	chr7:120608600-120627600	Weak transcription	Rectal Smooth Muscle	rectum
25	chr7:120609400-120622400	Weak transcription	Gastric	stomach
26	chr7:120609400-120627800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr7:120609400-120627800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr7:120609400-120628600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr7:120610400-120617200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr7:120610400-120617200	Strong transcription	Fetal Muscle Trunk	muscle
31	chr7:120611600-120617400	Weak transcription	Lung	lung
32	chr7:120611600-120619400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr7:120611600-120619400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr7:120611600-120620000	Weak transcription	Fetal Heart	heart
35	chr7:120611600-120621800	Weak transcription	HMEC	breast
36	chr7:120611600-120622000	Weak transcription	Fetal Intestine Small	intestine
37	chr7:120611600-120622200	Weak transcription	HSMMtube	muscle
38	chr7:120611600-120624000	Weak transcription	Fetal Brain Male	brain
39	chr7:120611600-120626200	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr7:120611600-120627400	Weak transcription	Brain Angular Gyrus	brain
41	chr7:120611600-120627600	Weak transcription	Fetal Muscle Leg	muscle
42	chr7:120611600-120627600	Weak transcription	Fetal Stomach	stomach
43	chr7:120611600-120627800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr7:120611600-120627800	Weak transcription	Esophagus	oesophagus
45	chr7:120611600-120627800	Weak transcription	Thymus	Thymus
46	chr7:120611800-120619800	Weak transcription	A549	lung
47	chr7:120611800-120620200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
48	chr7:120611800-120620400	Weak transcription	Placenta Amnion	Placenta Amnion
49	chr7:120611800-120621800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr7:120612000-120618600	Weak transcription	Brain Germinal Matrix	brain

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