Variant report

Variant	rs719148
Chromosome Location	chr2:20521647-20521648
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:20520628..20522961-chr2:20529239..20532212,2	K562	blood:
2	chr2:20503262..20504823-chr2:20520357..20523063,2	MCF-7	breast:
3	chr2:20487646..20490086-chr2:20519151..20521903,2	K562	blood:

Extended variants
information (count: 25 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1043419	1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];1.00[ASN][1000 genomes]
rs11096656	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11096657	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2058553	0.92[ASN][1000 genomes]
rs2160071	0.92[ASN][1000 genomes]
rs4465730	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4666300	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4666379	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4666384	0.85[ASN][1000 genomes]
rs4666385	0.88[ASN][1000 genomes]
rs62124605	0.92[ASN][1000 genomes]
rs62124607	0.85[ASN][1000 genomes]
rs6531227	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6531228	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6531230	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6706872	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[TSI][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6734686	0.95[CEU][hapmap]
rs6741559	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7579477	1.00[LWK][hapmap]
rs7596183	0.82[ASN][1000 genomes]
rs7606633	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs917904	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs989982	0.94[AMR][1000 genomes];0.96[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	nsv999153	chr2:20467929-20521954	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv1005366	chr2:20478859-20542134	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs719148	GDF7	cis	parietal	SCAN
rs719148	RHOB	cis	lymphoblastoid	seeQTL

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:20460200-20528600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:20466000-20530400	Strong transcription	Fetal Thymus	thymus
3	chr2:20467000-20522400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr2:20467200-20526200	Strong transcription	Primary monocytes fromperipheralblood	blood
5	chr2:20471800-20522600	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr2:20471800-20533800	Strong transcription	Dnd41	blood
7	chr2:20474600-20528600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr2:20475400-20522400	Strong transcription	Primary neutrophils fromperipheralblood	blood
9	chr2:20476600-20524800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
10	chr2:20476600-20526600	Strong transcription	Rectal Mucosa Donor 29	rectum
11	chr2:20489800-20525800	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr2:20491400-20522600	Strong transcription	HepG2	liver
13	chr2:20492400-20525800	Strong transcription	Liver	Liver
14	chr2:20499200-20527600	Weak transcription	Small Intestine	intestine
15	chr2:20500200-20522400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr2:20501600-20525000	Strong transcription	Placenta	Placenta
17	chr2:20503000-20534600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr2:20505200-20526000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr2:20505200-20526600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr2:20505600-20523400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr2:20507800-20527600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr2:20508400-20522000	Weak transcription	Lung	lung
23	chr2:20513800-20533000	Weak transcription	Right Ventricle	heart
24	chr2:20514800-20524800	Strong transcription	GM12878-XiMat	blood
25	chr2:20514800-20525000	Strong transcription	Primary hematopoietic stem cells	blood
26	chr2:20515200-20525600	Weak transcription	Brain Angular Gyrus	brain
27	chr2:20515200-20526800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr2:20515200-20527600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
29	chr2:20516200-20525200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr2:20516200-20525400	Strong transcription	Rectal Mucosa Donor 31	rectum
31	chr2:20516400-20523400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr2:20516800-20522000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr2:20516800-20529600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr2:20516800-20536000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr2:20517200-20525000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr2:20517400-20522000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr2:20517600-20522200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr2:20517600-20525000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr2:20517800-20522400	Strong transcription	HUVEC	blood vessel
40	chr2:20517800-20527000	Strong transcription	Primary B cells from peripheral blood	blood
41	chr2:20517800-20527200	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr2:20517800-20527600	Weak transcription	Pancreas	Pancrea
43	chr2:20517800-20530000	Weak transcription	Brain Cingulate Gyrus	brain
44	chr2:20517800-20530000	Weak transcription	Brain Substantia Nigra	brain
45	chr2:20517800-20533000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr2:20518000-20525600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr2:20518000-20529200	Weak transcription	Brain Hippocampus Middle	brain
48	chr2:20518000-20534400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr2:20518200-20522000	Strong transcription	Primary T cells fromperipheralblood	blood
50	chr2:20518200-20522000	Weak transcription	Colonic Mucosa	Colon

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