Variant report

Variant	rs4621831
Chromosome Location	chr8:118901524-118901525
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	chr8:118901302..118903490-chr8:119123908..119125633,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000182197	Chromatin interaction

Extended variants
information (count: 91 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:84)

rs_ID	r²[population]
rs10098363	0.89[ASN][1000 genomes]
rs10106675	0.87[CEU][hapmap];0.90[EUR][1000 genomes]
rs10110572	0.82[JPT][hapmap]
rs11774623	0.91[CEU][hapmap];0.90[EUR][1000 genomes]
rs11776458	0.87[EUR][1000 genomes]
rs11781153	0.83[CEU][hapmap];0.92[TSI][hapmap];0.85[EUR][1000 genomes]
rs11783359	0.85[EUR][1000 genomes]
rs11784409	0.91[CEU][hapmap];0.90[EUR][1000 genomes]
rs11784466	0.87[CEU][hapmap];0.90[EUR][1000 genomes]
rs12682332	0.86[CEU][hapmap];0.90[EUR][1000 genomes]
rs13251463	0.89[ASN][1000 genomes]
rs13251971	0.83[JPT][hapmap]
rs13252084	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13266866	0.83[JPT][hapmap]
rs13275942	0.83[JPT][hapmap]
rs13280053	0.82[CHB][hapmap];0.83[JPT][hapmap]
rs1542519	0.83[CEU][hapmap];0.83[EUR][1000 genomes]
rs17430540	0.91[CEU][hapmap];0.91[EUR][1000 genomes]
rs17430610	0.87[CEU][hapmap];0.89[EUR][1000 genomes]
rs17450835	0.91[CEU][hapmap];0.91[EUR][1000 genomes]
rs17450856	0.90[EUR][1000 genomes]
rs17450863	0.91[CEU][hapmap];0.90[EUR][1000 genomes]
rs17450876	0.91[CEU][hapmap];0.90[EUR][1000 genomes]
rs17452966	0.91[CEU][hapmap];0.90[EUR][1000 genomes]
rs17453043	0.87[CEU][hapmap];0.89[EUR][1000 genomes]
rs17475190	0.87[CEU][hapmap];0.91[EUR][1000 genomes]
rs17479600	0.89[EUR][1000 genomes]
rs2447538	0.83[EUR][1000 genomes]
rs2447539	0.83[EUR][1000 genomes]
rs2447540	0.84[TSI][hapmap]
rs2447541	0.82[EUR][1000 genomes]
rs2514720	0.82[EUR][1000 genomes]
rs28357271	0.91[CEU][hapmap];0.91[EUR][1000 genomes]
rs28357275	0.87[CEU][hapmap];0.89[EUR][1000 genomes]
rs28357276	0.91[CEU][hapmap];0.90[EUR][1000 genomes]
rs28357277	0.87[CEU][hapmap];0.90[EUR][1000 genomes]
rs3134312	0.86[YRI][hapmap]
rs3860883	0.82[CHB][hapmap];0.89[CHD][hapmap];0.88[ASN][1000 genomes]
rs4298514	0.86[CHB][hapmap];0.89[CHD][hapmap];0.86[TSI][hapmap];0.89[ASN][1000 genomes]
rs4391466	0.87[CEU][hapmap];0.90[EUR][1000 genomes]
rs4401892	0.86[YRI][hapmap]
rs4467961	0.82[JPT][hapmap]
rs4475517	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4480147	0.95[YRI][hapmap];0.82[AFR][1000 genomes]
rs4480148	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4541958	0.86[TSI][hapmap]
rs4602926	0.91[CEU][hapmap];0.90[EUR][1000 genomes]
rs4644291	0.86[CHB][hapmap];0.89[ASN][1000 genomes]
rs4876768	0.82[YRI][hapmap]
rs4876771	0.86[CHB][hapmap];0.82[JPT][hapmap];0.88[ASN][1000 genomes]
rs4876774	0.83[EUR][1000 genomes]
rs4876775	0.82[CHB][hapmap];0.83[EUR][1000 genomes]
rs5005135	0.87[CEU][hapmap];0.90[EUR][1000 genomes]
rs56748438	0.87[EUR][1000 genomes]
rs62521139	0.90[EUR][1000 genomes]
rs62521140	0.90[EUR][1000 genomes]
rs62521141	0.90[EUR][1000 genomes]
rs6469715	0.82[JPT][hapmap]
rs6469716	0.91[CEU][hapmap];0.90[EUR][1000 genomes]
rs6469718	0.86[CHB][hapmap];0.89[ASN][1000 genomes]
rs6982505	0.88[EUR][1000 genomes]
rs6985552	0.91[CEU][hapmap];0.90[EUR][1000 genomes]
rs6990519	0.82[JPT][hapmap]
rs6999044	0.87[CEU][hapmap];0.90[EUR][1000 genomes]
rs7004615	0.82[AFR][1000 genomes]
rs7007735	0.91[CEU][hapmap];0.83[GIH][hapmap];0.97[TSI][hapmap];0.90[EUR][1000 genomes]
rs7012890	0.91[CEU][hapmap];0.90[EUR][1000 genomes]
rs7014561	0.83[JPT][hapmap]
rs7812722	0.82[CHB][hapmap];0.87[CHD][hapmap];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7814022	0.83[JPT][hapmap]
rs7820452	0.91[CEU][hapmap];0.90[EUR][1000 genomes]
rs7822297	0.87[CEU][hapmap];0.90[EUR][1000 genomes]
rs7824327	0.91[CEU][hapmap];0.88[EUR][1000 genomes]
rs7824391	0.88[EUR][1000 genomes]
rs7824395	0.91[CEU][hapmap];0.88[EUR][1000 genomes]
rs7825927	0.86[YRI][hapmap]
rs7830840	0.81[GIH][hapmap]
rs7831208	0.82[YRI][hapmap]
rs7836747	0.91[CEU][hapmap];0.90[EUR][1000 genomes]
rs7842917	0.91[CEU][hapmap];0.88[EUR][1000 genomes]
rs7843515	0.91[CEU][hapmap];0.83[GIH][hapmap];0.97[TSI][hapmap];0.88[EUR][1000 genomes]
rs958381	0.81[TSI][hapmap]
rs9656923	0.87[CEU][hapmap];0.90[EUR][1000 genomes]
rs9656925	0.87[CEU][hapmap];0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1019636	chr8:118598433-118946091	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv539734	chr8:118598433-118946091	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv933516	chr8:118764605-119009093	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv1030459	chr8:118840179-119155835	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv831440	chr8:118871930-119052269	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv891411	chr8:118891896-118942698	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv1032355	chr8:118896733-119003223	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4621831	MAL2	cis	cerebellum	SCAN

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:118876200-118904400	Weak transcription	Right Ventricle	heart
2	chr8:118881200-118907600	Weak transcription	Duodenum Mucosa	Duodenum
3	chr8:118881400-118904600	Weak transcription	Lung	lung
4	chr8:118881400-118917400	Weak transcription	Esophagus	oesophagus
5	chr8:118888200-118908600	Weak transcription	Rectal Smooth Muscle	rectum
6	chr8:118889800-118904200	Weak transcription	Left Ventricle	heart
7	chr8:118890000-118914600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr8:118891200-118910400	Weak transcription	Psoas Muscle	Psoas
9	chr8:118894200-118904400	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr8:118894600-118905000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr8:118894600-118912200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr8:118894800-118904200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr8:118894800-118904400	Weak transcription	NH-A	brain
14	chr8:118894800-118905200	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr8:118894800-118905600	Weak transcription	HMEC	breast
16	chr8:118896200-118904400	Weak transcription	NHDF-Ad	bronchial
17	chr8:118896600-118902800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr8:118896600-118903000	Weak transcription	NHEK	skin
19	chr8:118896800-118902600	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr8:118896800-118904400	Weak transcription	Pancreas	Pancrea
21	chr8:118896800-118905400	Weak transcription	Stomach Mucosa	stomach
22	chr8:118896800-118909000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr8:118897200-118903000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr8:118897400-118903800	Weak transcription	NHLF	lung
25	chr8:118897600-118908000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr8:118899000-118902600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr8:118899000-118902600	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr8:118899000-118907000	Weak transcription	HUVEC	blood vessel
29	chr8:118899400-118904400	Weak transcription	Liver	Liver
30	chr8:118900200-118907800	Weak transcription	Primary T cells from cord blood	blood
31	chr8:118900400-118905600	Weak transcription	HSMMtube	muscle
32	chr8:118900600-118901600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr8:118900600-118904600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr8:118900800-118901800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr8:118901000-118901600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr8:118901200-118901600	Enhancers	Aorta	Aorta
37	chr8:118901200-118901600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
38	chr8:118901200-118901600	ZNF genes & repeats	Fetal Intestine Small	intestine
39	chr8:118901200-118901600	ZNF genes & repeats	HSMM	muscle
40	chr8:118901200-118902200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr8:118901200-118903400	Weak transcription	Fetal Heart	heart
42	chr8:118901400-118902000	Enhancers	Osteobl	bone
43	chr8:118901400-118902600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr8:118901400-118904600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr8:118901400-118905200	Weak transcription	Fetal Lung	lung
46	chr8:118901400-118905600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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