Variant report

Variant	rs7792368
Chromosome Location	chr7:150843464-150843465
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	chr7:150833743..150841006-chr7:150841442..150846687,15	K562	blood:

Variant related genes	Relation type
ENSG00000133612	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1001760	0.96[CEU][hapmap];0.81[EUR][1000 genomes]
rs13241978	0.85[ASN][1000 genomes]
rs13242523	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3823588	0.90[CHD][hapmap];0.85[JPT][hapmap]
rs4725394	0.88[ASW][hapmap];0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];0.95[JPT][hapmap];0.85[LWK][hapmap];0.95[MEX][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs4725395	0.90[ASN][1000 genomes]
rs4725999	0.96[CEU][hapmap]
rs4726000	0.90[CHB][hapmap];0.91[CHD][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs6464132	0.96[CEU][hapmap]
rs6947988	0.82[CEU][hapmap]
rs6979015	0.85[CEU][hapmap];0.81[EUR][1000 genomes]
rs767866	0.88[YRI][hapmap];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1821419	chr7:150593315-150974269	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	128 gene(s)	inside rSNPs	diseases
2	nsv539198	chr7:150643928-150879259	Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
3	nsv889476	chr7:150729212-150951819	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	120 gene(s)	inside rSNPs	diseases
4	nsv889478	chr7:150732812-150889527	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	61 gene(s)	inside rSNPs	diseases
5	nsv831188	chr7:150735204-150912875	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
6	nsv889482	chr7:150766799-150851566	Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
7	nsv889486	chr7:150775306-150891641	Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
8	nsv609034	chr7:150830015-150893629	Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs7792368	TMEM176B	cis	cerebellum	SCAN
rs7792368	HEBP2	trans	lymphoblastoid	seeQTL
rs7792368	GIMAP2	cis	cerebellum	SCAN
rs7792368	ACCN3	cis	cerebellum	SCAN

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150813000-150843800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr7:150816200-150844000	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr7:150824000-150843600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr7:150829600-150845400	Weak transcription	NHDF-Ad	bronchial
5	chr7:150830200-150844600	Weak transcription	Small Intestine	intestine
6	chr7:150832400-150844200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr7:150833000-150845400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr7:150833400-150845200	Weak transcription	Primary T cells fromperipheralblood	blood
9	chr7:150834000-150844800	Weak transcription	NH-A	brain
10	chr7:150834000-150847200	Weak transcription	Hela-S3	cervix
11	chr7:150836000-150843600	Strong transcription	Fetal Stomach	stomach
12	chr7:150836000-150848200	Weak transcription	Right Atrium	heart
13	chr7:150838400-150843600	Weak transcription	Dnd41	blood
14	chr7:150839400-150844400	Weak transcription	HepG2	liver
15	chr7:150841200-150843800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr7:150841200-150843800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr7:150841200-150844000	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr7:150841200-150844800	Weak transcription	Fetal Brain Male	brain
19	chr7:150841400-150843600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr7:150841400-150844000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr7:150841400-150844000	Weak transcription	Brain Angular Gyrus	brain
22	chr7:150841400-150844600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr7:150841400-150844800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr7:150841400-150845400	Weak transcription	A549	lung
25	chr7:150841400-150845600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr7:150841400-150846000	Weak transcription	HSMMtube	muscle
27	chr7:150841400-150862800	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr7:150841600-150843600	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr7:150841600-150844200	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr7:150841600-150845000	Weak transcription	Primary T cells from cord blood	blood
31	chr7:150841600-150845000	Weak transcription	K562	blood
32	chr7:150841600-150845800	Weak transcription	HUVEC	blood vessel
33	chr7:150841600-150846000	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr7:150841600-150847000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr7:150841800-150843800	Weak transcription	NHLF	lung
36	chr7:150841800-150844000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr7:150841800-150844000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr7:150841800-150844200	Weak transcription	Colon Smooth Muscle	Colon
39	chr7:150841800-150844600	Weak transcription	Fetal Lung	lung
40	chr7:150841800-150844800	Strong transcription	Skeletal Muscle Female	skeletal muscle
41	chr7:150841800-150845200	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr7:150841800-150845600	Weak transcription	Lung	lung
43	chr7:150841800-150845800	Weak transcription	Spleen	Spleen
44	chr7:150841800-150847000	Weak transcription	Esophagus	oesophagus
45	chr7:150841800-150847600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr7:150842000-150845000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr7:150842400-150844000	Weak transcription	Gastric	stomach
48	chr7:150842400-150844200	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr7:150842400-150844200	Weak transcription	Brain Hippocampus Middle	brain
50	chr7:150842400-150844800	Weak transcription	Rectal Smooth Muscle	rectum

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