Variant report

Variant	rs4947710
Chromosome Location	chr7:50673029-50673030
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	chr7:50672342..50675062-chr7:50858858..50861329,2	K562	blood:

Variant related genes	Relation type
ENSG00000106070	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10486757	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11575282	0.80[GIH][hapmap];0.85[TSI][hapmap];0.82[EUR][1000 genomes]
rs11575286	0.80[GIH][hapmap];0.85[TSI][hapmap];0.82[EUR][1000 genomes]
rs11575313	0.82[EUR][1000 genomes]
rs11575321	0.82[EUR][1000 genomes]
rs11575322	0.85[TSI][hapmap];0.82[EUR][1000 genomes]
rs11575338	0.82[EUR][1000 genomes]
rs11575349	0.82[EUR][1000 genomes]
rs1349491	0.82[EUR][1000 genomes]
rs17544225	0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2100279	0.82[EUR][1000 genomes]
rs2190499	0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2190500	0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2237439	0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2299151	0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2299152	0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2329484	0.85[YRI][hapmap];0.88[AFR][1000 genomes]
rs2715130	0.83[LWK][hapmap];0.81[MKK][hapmap];0.90[YRI][hapmap]
rs2715140	0.81[ASN][1000 genomes]
rs2876830	0.82[EUR][1000 genomes]
rs3735271	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3807550	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3807551	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3807553	0.80[GIH][hapmap];0.85[TSI][hapmap];0.82[EUR][1000 genomes]
rs4469405	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4947406	0.85[CHD][hapmap]
rs55834323	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73123220	0.81[EUR][1000 genomes]
rs73123247	0.82[EUR][1000 genomes]
rs73123249	0.82[EUR][1000 genomes]
rs73123251	0.82[EUR][1000 genomes]
rs73123254	0.82[EUR][1000 genomes]
rs73123257	0.81[EUR][1000 genomes]
rs73123261	0.82[EUR][1000 genomes]
rs73123264	0.82[EUR][1000 genomes]
rs73123266	0.82[EUR][1000 genomes]
rs73123283	0.82[EUR][1000 genomes]
rs73123285	0.82[EUR][1000 genomes]
rs73123291	0.82[EUR][1000 genomes]
rs73125208	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73125215	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73125225	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73129082	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73129084	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73129088	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73129091	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73129096	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73131006	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73131008	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73131013	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73131015	0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73131078	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7456867	0.93[AFR][1000 genomes]
rs7780697	0.94[AFR][1000 genomes]
rs9656664	0.85[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.95[ASN][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	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4947710	ADAM11	trans	cerebellum	SCAN

Chromatin state (count:109 , 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	chr7:50654000-50680000	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr7:50657200-50678000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr7:50658200-50675800	Strong transcription	HSMMtube	muscle
5	chr7:50658200-50682000	Weak transcription	Colonic Mucosa	Colon
6	chr7:50658200-50690400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr7:50658800-50673200	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr7:50658800-50686800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr7:50658800-50690000	Weak transcription	Fetal Kidney	kidney
10	chr7:50659000-50678600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr7:50659200-50677000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr7:50659200-50680000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr7:50659200-50683600	Weak transcription	Small Intestine	intestine
14	chr7:50659400-50675800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr7:50659600-50675600	Weak transcription	Primary T helper cells fromperipheralblood	blood
16	chr7:50659800-50679000	Weak transcription	NHDF-Ad	bronchial
17	chr7:50659800-50687800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr7:50659800-50697200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr7:50660000-50675600	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr7:50660400-50673400	Weak transcription	Fetal Brain Female	brain
21	chr7:50660600-50688000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr7:50660800-50673400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr7:50661000-50673600	Weak transcription	Esophagus	oesophagus
24	chr7:50663800-50674400	Strong transcription	Left Ventricle	heart
25	chr7:50663800-50675800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr7:50664600-50675800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
27	chr7:50664800-50674400	Strong transcription	Skeletal Muscle Male	skeletal muscle
28	chr7:50664800-50675800	Strong transcription	Adipose Nuclei	Adipose
29	chr7:50665000-50688000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
30	chr7:50666000-50675600	Strong transcription	Stomach Smooth Muscle	stomach
31	chr7:50666600-50677600	Weak transcription	Primary monocytes fromperipheralblood	blood
32	chr7:50666600-50680400	Weak transcription	Brain Angular Gyrus	brain
33	chr7:50666800-50673800	Weak transcription	Monocytes-CD14+_RO01746	blood
34	chr7:50667000-50686200	Strong transcription	Primary neutrophils fromperipheralblood	blood
35	chr7:50667200-50682000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr7:50667600-50681600	Weak transcription	HepG2	liver
37	chr7:50668000-50689000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr7:50668600-50675800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
39	chr7:50668600-50676200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr7:50669000-50677200	Weak transcription	Stomach Mucosa	stomach
41	chr7:50669600-50674400	Strong transcription	Psoas Muscle	Psoas
42	chr7:50669600-50676000	Strong transcription	Osteobl	bone
43	chr7:50670000-50674200	Strong transcription	Aorta	Aorta
44	chr7:50670000-50674400	Strong transcription	Right Ventricle	heart
45	chr7:50670000-50674400	Strong transcription	Spleen	Spleen
46	chr7:50670000-50675200	Weak transcription	Primary T cells fromperipheralblood	blood
47	chr7:50670000-50676200	Strong transcription	Cortex derived primary cultured neurospheres	brain
48	chr7:50670200-50674800	Strong transcription	Hela-S3	cervix
49	chr7:50670200-50675600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr7:50670600-50674000	Strong transcription	Sigmoid Colon	Sigmoid Colon

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