Variant report

Variant	rs741063
Chromosome Location	chr7:150500994-150500995
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:150418208..150420407-chr7:150499249..150501046,2	K562	blood:
2	chr14:103799690..103801722-chr7:150499990..150502552,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000100664	Chromatin interaction
ENSG00000196329	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10264084	1.00[JPT][hapmap]
rs10269643	1.00[JPT][hapmap]
rs10452847	1.00[JPT][hapmap]
rs1127958	0.94[ASN][1000 genomes]
rs11760854	1.00[JPT][hapmap]
rs11762854	1.00[JPT][hapmap]
rs11763311	1.00[JPT][hapmap]
rs11768123	1.00[JPT][hapmap]
rs11771771	1.00[JPT][hapmap]
rs12670489	1.00[JPT][hapmap]
rs17173650	1.00[JPT][hapmap]
rs17173651	1.00[JPT][hapmap]
rs17173652	1.00[JPT][hapmap]
rs17258890	1.00[JPT][hapmap]
rs2215562	1.00[JPT][hapmap]
rs2215563	1.00[JPT][hapmap]
rs2215564	1.00[JPT][hapmap]
rs2888686	1.00[JPT][hapmap]
rs4266560	1.00[JPT][hapmap]
rs4618613	1.00[JPT][hapmap]
rs4725366	1.00[CHB][hapmap]
rs55775933	0.81[AFR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs732416	1.00[JPT][hapmap]
rs741066	0.81[AFR][1000 genomes]
rs758888	1.00[JPT][hapmap]
rs758894	1.00[JPT][hapmap]
rs758895	1.00[JPT][hapmap]
rs7781870	1.00[JPT][hapmap]
rs917806	1.00[JPT][hapmap]
rs917807	1.00[JPT][hapmap]
rs9918664	1.00[JPT][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	nsv608990	chr7:149961274-150707488	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	nsv1017368	chr7:150016952-150655773	Bivalent Enhancer ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
3	nsv539195	chr7:150016952-150655773	Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
4	nsv1030109	chr7:150312916-150701010	Enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv967475	chr7:150323577-150610034	Enhancers Bivalent Enhancer Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	nsv831187	chr7:150325913-150503500	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs741063	ABP1	cis	multi-tissue	Pritchard
rs741063	TMEM176B	cis	cerebellum	SCAN

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150498800-150501600	Enhancers	Placenta	Placenta
2	chr7:150498800-150502800	Weak transcription	Gastric	stomach
3	chr7:150498800-150503000	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr7:150499200-150501000	Genic enhancers	Fetal Intestine Large	intestine
5	chr7:150499200-150501200	Transcr. at gene 5' and 3'	Liver	Liver
6	chr7:150499400-150501000	Genic enhancers	Fetal Muscle Leg	muscle
7	chr7:150499400-150501000	Enhancers	Right Ventricle	heart
8	chr7:150499400-150501000	Genic enhancers	Sigmoid Colon	Sigmoid Colon
9	chr7:150499400-150503000	Strong transcription	Ovary	ovary
10	chr7:150499600-150501000	Genic enhancers	Fetal Intestine Small	intestine
11	chr7:150499600-150501000	Transcr. at gene 5' and 3'	Rectal Mucosa Donor 31	rectum
12	chr7:150499600-150501800	Weak transcription	Pancreas	Pancrea
13	chr7:150499600-150502800	Weak transcription	Esophagus	oesophagus
14	chr7:150499800-150501400	Transcr. at gene 5' and 3'	Rectal Mucosa Donor 29	rectum
15	chr7:150499800-150501400	Weak transcription	Spleen	Spleen
16	chr7:150499800-150501800	Genic enhancers	Fetal Muscle Trunk	muscle
17	chr7:150499800-150502600	Weak transcription	Brain Anterior Caudate	brain
18	chr7:150500000-150501000	Genic enhancers	Monocytes-CD14+_RO01746	blood
19	chr7:150500000-150501400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr7:150500200-150503000	Weak transcription	Brain Substantia Nigra	brain
21	chr7:150500400-150501600	Enhancers	Left Ventricle	heart
22	chr7:150500400-150501800	Bivalent Enhancer	Stomach Smooth Muscle	stomach
23	chr7:150500400-150502600	Strong transcription	Duodenum Smooth Muscle	Duodenum
24	chr7:150500600-150501400	Strong transcription	Adipose Nuclei	Adipose
25	chr7:150500600-150501400	Strong transcription	Fetal Stomach	stomach
26	chr7:150500600-150501400	Weak transcription	Small Intestine	intestine
27	chr7:150500600-150502800	Strong transcription	Duodenum Mucosa	Duodenum
28	chr7:150500600-150503600	Weak transcription	Stomach Mucosa	stomach
29	chr7:150500800-150501000	Transcr. at gene 5' and 3'	Colonic Mucosa	Colon
30	chr7:150500800-150501000	Strong transcription	Rectal Smooth Muscle	rectum
31	chr7:150500800-150501000	Enhancers	Right Atrium	heart

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