Variant report

Variant	rs6722012
Chromosome Location	chr2:231300901-231300902
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:231299092..231301889-chr2:231304564..231307133,2	K562	blood:
2	chr2:231292379..231294379-chr2:231300867..231302513,2	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10180055	0.93[ASN][1000 genomes]
rs10180131	0.95[ASN][1000 genomes]
rs10191049	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10207311	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10804365	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11682084	0.83[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs11688912	0.91[ASN][1000 genomes]
rs11689240	0.95[ASN][1000 genomes]
rs11690286	0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs11898168	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13411346	0.93[ASN][1000 genomes]
rs13411566	0.97[ASN][1000 genomes]
rs3754944	1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs4142872	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56102622	0.93[ASN][1000 genomes]
rs56377716	0.92[ASN][1000 genomes]
rs62193378	0.93[ASN][1000 genomes]
rs62193388	0.93[ASN][1000 genomes]
rs6436937	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6730329	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6748062	0.97[ASN][1000 genomes]
rs6748069	0.97[ASN][1000 genomes]
rs6756448	0.96[ASN][1000 genomes]
rs7581828	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7582700	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.97[TSI][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7595408	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.97[TSI][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs973504	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	esv18000	chr2:231072978-231467847	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv584672	chr2:231289976-231348888	Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6722012	NMUR1	cis	parietal	SCAN
rs6722012	LOC93349	cis	multi-tissue	Pritchard

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:231283600-231309200	Weak transcription	Stomach Smooth Muscle	stomach
2	chr2:231284200-231301000	Weak transcription	Rectal Smooth Muscle	rectum
3	chr2:231284200-231304000	Weak transcription	NH-A	brain
4	chr2:231284600-231306200	Weak transcription	HMEC	breast
5	chr2:231288800-231319000	Weak transcription	Fetal Kidney	kidney
6	chr2:231288800-231356000	Weak transcription	Stomach Mucosa	stomach
7	chr2:231289000-231309200	Weak transcription	Aorta	Aorta
8	chr2:231294000-231301200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr2:231294200-231309600	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr2:231294200-231311600	Weak transcription	Colon Smooth Muscle	Colon
11	chr2:231295200-231301000	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr2:231295200-231309200	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr2:231295400-231306400	Weak transcription	HSMM	muscle
14	chr2:231295600-231301000	Weak transcription	Placenta	Placenta
15	chr2:231295800-231307800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr2:231295800-231309000	Weak transcription	Small Intestine	intestine
17	chr2:231296000-231309400	Weak transcription	Colonic Mucosa	Colon
18	chr2:231296000-231310400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr2:231296200-231301200	Weak transcription	Lung	lung
20	chr2:231296200-231301200	Weak transcription	Ovary	ovary
21	chr2:231296200-231308400	Weak transcription	Gastric	stomach
22	chr2:231296200-231309200	Weak transcription	Fetal Stomach	stomach
23	chr2:231296200-231309200	Weak transcription	Spleen	Spleen
24	chr2:231296400-231307600	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr2:231296600-231303800	ZNF genes & repeats	GM12878-XiMat	blood
26	chr2:231296800-231301000	Weak transcription	Adipose Nuclei	Adipose
27	chr2:231298000-231301000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr2:231298200-231301200	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr2:231299200-231301800	ZNF genes & repeats	Dnd41	blood
30	chr2:231299400-231301400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
31	chr2:231299600-231308200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr2:231299800-231301600	Weak transcription	NHDF-Ad	bronchial
33	chr2:231299800-231301800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr2:231299800-231306000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr2:231300000-231301000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr2:231300000-231301000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr2:231300200-231301000	Strong transcription	Monocytes-CD14+_RO01746	blood
38	chr2:231300200-231301200	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
39	chr2:231300200-231301400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
40	chr2:231300200-231301400	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
41	chr2:231300200-231301400	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
42	chr2:231300200-231301400	ZNF genes & repeats	Fetal Muscle Leg	muscle
43	chr2:231300200-231301400	ZNF genes & repeats	Fetal Thymus	thymus
44	chr2:231300200-231301600	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
45	chr2:231300200-231301800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr2:231300200-231301800	ZNF genes & repeats	Liver	Liver
47	chr2:231300200-231302600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
48	chr2:231300200-231303600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr2:231300200-231304000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr2:231300400-231301200	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin

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