Variant report

Variant	rs7595408
Chromosome Location	chr2:231320960-231320961
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:231320643..231324421-chr2:231326944..231329739,3	K562	blood:

Variant related genes	Relation type
ENSG00000067066	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10180055	0.86[ASN][1000 genomes]
rs10180131	0.87[ASN][1000 genomes]
rs10191049	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10207311	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10804365	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11682084	0.83[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs11688912	0.93[ASN][1000 genomes]
rs11689240	0.87[ASN][1000 genomes]
rs11690286	0.92[ASN][1000 genomes]
rs11898168	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13411346	0.86[ASN][1000 genomes]
rs13411566	0.90[ASN][1000 genomes]
rs3754944	1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs4142872	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.94[TSI][hapmap];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56102622	0.91[ASN][1000 genomes]
rs56377716	0.85[ASN][1000 genomes]
rs62193378	0.86[ASN][1000 genomes]
rs62193388	0.93[ASN][1000 genomes]
rs6436937	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6722012	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6730329	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6748062	0.90[ASN][1000 genomes]
rs6748069	0.90[ASN][1000 genomes]
rs6756448	0.88[ASN][1000 genomes]
rs7581828	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7582700	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs973504	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7595408	NMUR1	cis	parietal	SCAN

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:231288800-231356000	Weak transcription	Stomach Mucosa	stomach
2	chr2:231301800-231345000	Weak transcription	A549	lung
3	chr2:231306600-231323400	Weak transcription	K562	blood
4	chr2:231307400-231321800	Strong transcription	Liver	Liver
5	chr2:231307600-231336600	Strong transcription	Duodenum Mucosa	Duodenum
6	chr2:231308800-231337000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr2:231308800-231337400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr2:231309600-231336800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr2:231310800-231321800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr2:231311400-231324800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr2:231311600-231321000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr2:231312400-231337000	Weak transcription	HepG2	liver
13	chr2:231312400-231337200	Weak transcription	Hela-S3	cervix
14	chr2:231314600-231321600	Strong transcription	Primary T cells fromperipheralblood	blood
15	chr2:231314600-231321600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr2:231314600-231322400	ZNF genes & repeats	GM12878-XiMat	blood
17	chr2:231314800-231321800	Weak transcription	Esophagus	oesophagus
18	chr2:231314800-231321800	Weak transcription	Gastric	stomach
19	chr2:231315000-231321800	Weak transcription	Aorta	Aorta
20	chr2:231315000-231321800	Weak transcription	Fetal Stomach	stomach
21	chr2:231315000-231321800	Weak transcription	Rectal Smooth Muscle	rectum
22	chr2:231315000-231321800	Weak transcription	Spleen	Spleen
23	chr2:231315000-231321800	Weak transcription	NHEK	skin
24	chr2:231315000-231322400	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr2:231315000-231322800	Weak transcription	Stomach Smooth Muscle	stomach
26	chr2:231315000-231325800	Weak transcription	Colonic Mucosa	Colon
27	chr2:231315000-231326000	Weak transcription	Right Ventricle	heart
28	chr2:231315000-231328600	Weak transcription	Small Intestine	intestine
29	chr2:231315000-231330800	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr2:231315000-231331800	Weak transcription	Psoas Muscle	Psoas
31	chr2:231315200-231321000	Weak transcription	HSMMtube	muscle
32	chr2:231315200-231323200	Weak transcription	HMEC	breast
33	chr2:231315600-231321800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr2:231316000-231321400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr2:231316000-231321600	Weak transcription	NHLF	lung
36	chr2:231316600-231321400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr2:231317400-231321400	ZNF genes & repeats	Primary B cells from peripheral blood	blood
38	chr2:231317600-231321400	ZNF genes & repeats	Primary B cells from cord blood	blood
39	chr2:231318000-231321000	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
40	chr2:231318000-231321800	Weak transcription	Ovary	ovary
41	chr2:231318200-231321000	Strong transcription	Monocytes-CD14+_RO01746	blood
42	chr2:231318200-231321800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr2:231318200-231321800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr2:231318200-231321800	Weak transcription	Lung	lung
45	chr2:231318200-231322000	Weak transcription	Pancreas	Pancrea
46	chr2:231318400-231321000	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr2:231318800-231323400	Strong transcription	Colon Smooth Muscle	Colon
48	chr2:231319000-231321800	Strong transcription	Placenta	Placenta
49	chr2:231319000-231322800	Genic enhancers	Primary T helper cells fromperipheralblood	blood
50	chr2:231319200-231325000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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