Variant report

Variant	rs6820167
Chromosome Location	chr4:74141448-74141449
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:74128166..74131091-chr4:74138285..74142360,3	K562	blood:
2	chr4:74128155..74131339-chr4:74138850..74142160,4	MCF-7	breast:
3	chr4:74123816..74126777-chr4:74138438..74142667,6	MCF-7	breast:
4	chr4:74135514..74138009-chr4:74140211..74141739,2	K562	blood:
5	chr4:74132926..74135359-chr4:74140431..74141977,2	MCF-7	breast:
6	chr4:74122787..74125234-chr4:74138811..74141943,4	K562	blood:

Variant related genes	Relation type
ENSG00000221639	Chromatin interaction
ENSG00000132466	Chromatin interaction
ENSG00000250220	Chromatin interaction

Extended variants
information (count: 78 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs10002756	0.88[CEU][hapmap]
rs10002903	0.81[ASN][1000 genomes]
rs10020432	0.88[CEU][hapmap]
rs10022167	0.88[CEU][hapmap];0.86[CHB][hapmap];0.98[CHD][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs10022463	0.84[ASN][1000 genomes]
rs10031441	0.88[CEU][hapmap]
rs12503222	0.81[ASN][1000 genomes]
rs12506899	0.88[CEU][hapmap]
rs12510644	0.86[ASN][1000 genomes]
rs12649712	0.92[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap]
rs13104065	0.85[ASN][1000 genomes]
rs13114289	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13122972	0.81[ASN][1000 genomes]
rs13135376	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13136437	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13138260	0.84[ASN][1000 genomes]
rs13138734	0.85[CEU][hapmap];0.81[CHB][hapmap]
rs1475934	0.92[CEU][hapmap];0.85[CHB][hapmap];0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs16849341	0.88[CEU][hapmap];0.81[CHB][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs16849384	0.88[CEU][hapmap];0.81[CHB][hapmap];0.86[CHD][hapmap]
rs2051510	0.81[ASN][1000 genomes]
rs2051512	0.92[CEU][hapmap];0.86[CHB][hapmap];0.98[CHD][hapmap];0.95[JPT][hapmap];0.83[MEX][hapmap];0.81[TSI][hapmap];0.85[ASN][1000 genomes]
rs2070849	0.85[CEU][hapmap];0.81[CHB][hapmap]
rs2236766	0.82[ASN][1000 genomes]
rs2236767	0.82[ASN][1000 genomes]
rs2276937	0.85[CEU][hapmap]
rs2298839	0.80[CEU][hapmap]
rs28585480	0.81[ASN][1000 genomes]
rs28718348	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28796001	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28885986	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28891076	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35545060	0.80[ASN][1000 genomes]
rs3756066	0.96[CEU][hapmap];0.86[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.81[TSI][hapmap];0.84[ASN][1000 genomes]
rs3775485	0.88[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs3775486	0.92[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3796676	0.87[CEU][hapmap]
rs4018	0.84[CEU][hapmap];0.81[CHB][hapmap];0.85[CHD][hapmap]
rs4024	0.85[CEU][hapmap];0.81[CHB][hapmap];0.86[CHD][hapmap]
rs4076	0.82[ASN][1000 genomes]
rs4270557	0.84[ASN][1000 genomes]
rs4345146	0.81[ASN][1000 genomes]
rs4403016	0.85[CEU][hapmap];0.81[CHB][hapmap]
rs4429703	0.81[ASN][1000 genomes]
rs4513532	0.96[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs4530599	0.81[ASN][1000 genomes]
rs4560374	0.83[ASN][1000 genomes]
rs4575963	0.88[CEU][hapmap];0.85[CHB][hapmap];0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs4621399	0.83[ASN][1000 genomes]
rs4694164	0.85[ASN][1000 genomes]
rs4694598	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4694600	0.85[ASN][1000 genomes]
rs4694608	0.81[ASN][1000 genomes]
rs4694613	0.88[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs58395249	0.82[ASN][1000 genomes]
rs6446931	0.88[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs6810745	0.82[ASN][1000 genomes]
rs6818116	0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6829085	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6832260	0.83[ASN][1000 genomes]
rs6832557	0.84[ASN][1000 genomes]
rs6850155	0.85[CEU][hapmap];0.86[CHB][hapmap]
rs6853164	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs714825	0.96[CEU][hapmap];0.86[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.86[MKK][hapmap];0.81[TSI][hapmap];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7434765	0.81[ASN][1000 genomes]
rs7660680	0.83[CEU][hapmap]
rs7682895	0.86[ASN][1000 genomes]
rs7683385	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7688274	0.96[CEU][hapmap];0.86[CHB][hapmap];0.97[CHD][hapmap];0.95[JPT][hapmap];0.83[MEX][hapmap];0.81[TSI][hapmap];0.82[ASN][1000 genomes]
rs962004	0.82[ASN][1000 genomes]
rs962005	0.82[ASN][1000 genomes]
rs9784408	0.81[ASN][1000 genomes]
rs9784582	0.81[ASN][1000 genomes]
rs9995176	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9996318	0.88[CEU][hapmap];0.86[CHB][hapmap];0.98[CHD][hapmap];0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs9999209	0.82[ASN][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	nsv1000509	chr4:73968978-74206949	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
2	esv3350599	chr4:74122400-74142462	Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6820167	ALB	cis	parietal	SCAN

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:74125800-74149000	Weak transcription	Ovary	ovary
2	chr4:74126000-74153400	Weak transcription	HSMMtube	muscle
3	chr4:74126200-74142800	Weak transcription	Adipose Nuclei	Adipose
4	chr4:74126200-74142800	Weak transcription	Aorta	Aorta
5	chr4:74126400-74142800	Weak transcription	Fetal Lung	lung
6	chr4:74126400-74147000	Weak transcription	Colon Smooth Muscle	Colon
7	chr4:74126600-74142800	Weak transcription	Primary B cells from cord blood	blood
8	chr4:74126600-74142800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr4:74126600-74147000	Weak transcription	Primary hematopoietic stem cells	blood
10	chr4:74126600-74147000	Weak transcription	Fetal Stomach	stomach
11	chr4:74126600-74149200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr4:74126600-74152400	Weak transcription	Stomach Smooth Muscle	stomach
13	chr4:74127000-74158600	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr4:74127200-74154800	Weak transcription	Left Ventricle	heart
15	chr4:74127400-74154000	Weak transcription	Brain Angular Gyrus	brain
16	chr4:74129200-74142800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr4:74129200-74143600	Weak transcription	HSMM	muscle
18	chr4:74129800-74142800	Weak transcription	Primary T cells from cord blood	blood
19	chr4:74137800-74147000	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr4:74138800-74147200	Weak transcription	Spleen	Spleen
21	chr4:74139800-74142800	Weak transcription	Gastric	stomach
22	chr4:74140000-74142000	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr4:74140200-74141600	Enhancers	HepG2	liver
24	chr4:74140400-74141600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr4:74140400-74141600	Flanking Active TSS	Liver	Liver
26	chr4:74140800-74141800	Weak transcription	NHEK	skin
27	chr4:74140800-74144000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr4:74140800-74149200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr4:74141200-74141600	Enhancers	Fetal Intestine Large	intestine
30	chr4:74141200-74142800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr4:74141400-74142800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr4:74141400-74142800	Weak transcription	Duodenum Mucosa	Duodenum
33	chr4:74141400-74142800	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr4:74141400-74147000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr4:74141400-74151000	Weak transcription	Pancreas	Pancrea

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