Variant report

Variant	rs2190499
Chromosome Location	chr7:50686149-50686150
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	chr7:50685467..50688142-chr7:50689785..50691543,2	K562	blood:
2	chr7:50685540..50687929-chr7:50689189..50691157,2	MCF-7	breast:

Extended variants
information (count: 44 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10486757	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1107743	1.00[ASW][hapmap]
rs11575282	0.83[GIH][hapmap]
rs11575286	0.83[GIH][hapmap]
rs11575322	1.00[ASW][hapmap];0.80[GIH][hapmap]
rs11575500	1.00[AFR][1000 genomes]
rs11575548	1.00[ASW][hapmap]
rs17544225	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17634958	1.00[ASW][hapmap]
rs2190500	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2237439	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2299151	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2299152	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2715140	1.00[ASN][1000 genomes]
rs3735271	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3807550	1.00[ASW][hapmap];1.00[CEU][hapmap];0.92[CHD][hapmap];0.93[GIH][hapmap];0.80[MEX][hapmap];0.86[TSI][hapmap];1.00[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs3807551	1.00[ASW][hapmap];1.00[CEU][hapmap];0.92[CHD][hapmap];0.90[GIH][hapmap];0.80[MEX][hapmap];0.86[TSI][hapmap];1.00[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs3807553	1.00[ASW][hapmap];0.83[GIH][hapmap]
rs4469405	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4947710	1.00[CEU][hapmap];0.92[CHD][hapmap];0.90[GIH][hapmap];0.82[MEX][hapmap];0.86[TSI][hapmap];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs55834323	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73125208	0.81[EUR][1000 genomes]
rs73125215	0.81[EUR][1000 genomes]
rs73125225	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs73129082	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73129084	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73129088	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73129091	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73129096	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73131006	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73131008	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73131013	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73131015	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73131078	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9656664	0.85[CEU][hapmap];0.92[CHD][hapmap];0.90[GIH][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016665	chr7:50452552-51404524	Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv1015758	chr7:50565404-50768153	Flanking Active TSS Genic enhancers Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv1023228	chr7:50573214-50777634	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv1032882	chr7:50611138-50775257	Genic enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
5	nsv538834	chr7:50611138-50775257	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
6	nsv1031138	chr7:50651793-50814881	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
7	nsv1021753	chr7:50671350-50694457	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	nsv1020791	chr7:50673666-50694457	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	nsv606906	chr7:50673666-50694457	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2190499	ADAM11	trans	cerebellum	SCAN

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50652400-50687400	Weak transcription	Right Atrium	heart
2	chr7:50658200-50690400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr7:50658800-50686800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr7:50658800-50690000	Weak transcription	Fetal Kidney	kidney
5	chr7:50659800-50687800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr7:50659800-50697200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr7:50660600-50688000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr7:50665000-50688000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
9	chr7:50667000-50686200	Strong transcription	Primary neutrophils fromperipheralblood	blood
10	chr7:50668000-50689000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr7:50671200-50687400	Weak transcription	Fetal Brain Male	brain
12	chr7:50671600-50696800	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr7:50674200-50694000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr7:50674200-50709800	Weak transcription	Esophagus	oesophagus
15	chr7:50674400-50699000	Weak transcription	Brain Germinal Matrix	brain
16	chr7:50676800-50686200	Strong transcription	Hela-S3	cervix
17	chr7:50676800-50688200	Strong transcription	HUES48 Cell Line	embryonic stem cell
18	chr7:50677000-50686800	Strong transcription	Skeletal Muscle Male	skeletal muscle
19	chr7:50677000-50687800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr7:50677000-50696000	Strong transcription	Cortex derived primary cultured neurospheres	brain
21	chr7:50677200-50686200	Strong transcription	HUES6 Cell Line	embryonic stem cell
22	chr7:50677200-50686200	Strong transcription	HUES64 Cell Line	embryonic stem cell
23	chr7:50677200-50687200	Strong transcription	Skeletal Muscle Female	skeletal muscle
24	chr7:50677600-50688000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr7:50677800-50686400	Strong transcription	Lung	lung
26	chr7:50679000-50688200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr7:50679200-50686200	Strong transcription	Fetal Stomach	stomach
28	chr7:50679200-50691600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr7:50679400-50688600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr7:50679800-50686600	Weak transcription	NHEK	skin
31	chr7:50680200-50689000	Weak transcription	Psoas Muscle	Psoas
32	chr7:50680200-50695800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr7:50681000-50686600	Strong transcription	Stomach Smooth Muscle	stomach
34	chr7:50681200-50699800	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr7:50682000-50687600	Weak transcription	Colon Smooth Muscle	Colon
36	chr7:50682200-50687400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr7:50682200-50692400	Weak transcription	NHDF-Ad	bronchial
38	chr7:50682200-50694200	Weak transcription	Fetal Brain Female	brain
39	chr7:50682200-50699200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr7:50682400-50688800	Weak transcription	Fetal Muscle Leg	muscle
41	chr7:50682400-50690200	Weak transcription	Rectal Smooth Muscle	rectum
42	chr7:50682400-50695200	Weak transcription	Brain Substantia Nigra	brain
43	chr7:50682400-50695400	Weak transcription	Brain Hippocampus Middle	brain
44	chr7:50682400-50695600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr7:50682400-50695800	Weak transcription	NHLF	lung
46	chr7:50682600-50688200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr7:50682600-50688800	Weak transcription	Ovary	ovary
48	chr7:50682600-50693800	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr7:50682600-50695400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr7:50682600-50695400	Weak transcription	Brain Cingulate Gyrus	brain

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