Variant report

Variant	rs447978
Chromosome Location	chr3:120491086-120491087
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	chr3:120490765..120494305-chr3:120495076..120499796,4	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs13077101	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1466960	0.95[CEU][hapmap];0.93[MEX][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1505701	0.80[EUR][1000 genomes]
rs322456	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35490764	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs386748	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs388747	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs41374647	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap]
rs428008	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4676827	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs487267	0.83[EUR][1000 genomes]
rs487414	0.83[EUR][1000 genomes]
rs489271	0.81[EUR][1000 genomes]
rs9849411	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]

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	nsv1007557	chr3:119892894-120764353	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv536706	chr3:119892894-120764353	Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv869548	chr3:120320731-121076337	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	nsv916869	chr3:120360281-120973169	Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv877378	chr3:120381530-120606438	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
6	nsv1005396	chr3:120460741-120580319	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
7	nsv829700	chr3:120469191-120675763	Strong transcription Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
8	nsv1012541	chr3:120482402-120580319	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
9	nsv1014477	chr3:120482402-120583166	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs447978	C3orf30	cis	cerebellum	SCAN

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:120462600-120495200	Weak transcription	Aorta	Aorta
2	chr3:120462800-120499800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr3:120462800-120500000	Weak transcription	Gastric	stomach
4	chr3:120462800-120503000	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr3:120463000-120493600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr3:120463000-120496000	Weak transcription	Fetal Lung	lung
7	chr3:120463000-120499800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr3:120463000-120502000	Weak transcription	Colonic Mucosa	Colon
9	chr3:120463000-120504200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr3:120463000-120504800	Weak transcription	Fetal Brain Male	brain
11	chr3:120463200-120492000	Weak transcription	Thymus	Thymus
12	chr3:120463200-120494000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr3:120463200-120495200	Weak transcription	Fetal Intestine Small	intestine
14	chr3:120463400-120497000	Weak transcription	Fetal Kidney	kidney
15	chr3:120463400-120503000	Weak transcription	Small Intestine	intestine
16	chr3:120470200-120499600	Weak transcription	HSMMtube	muscle
17	chr3:120470200-120499800	Weak transcription	Lung	lung
18	chr3:120471600-120491200	Weak transcription	Placenta	Placenta
19	chr3:120471600-120491600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr3:120472400-120495200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr3:120472600-120493200	Weak transcription	Duodenum Mucosa	Duodenum
22	chr3:120473600-120495400	Weak transcription	Hela-S3	cervix
23	chr3:120475000-120493200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr3:120477600-120491400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr3:120482200-120505200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr3:120482200-120517600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr3:120483200-120509800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr3:120483400-120502000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr3:120483400-120521200	Weak transcription	Fetal Heart	heart
30	chr3:120483800-120491600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr3:120485400-120499800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr3:120485800-120494000	Weak transcription	Spleen	Spleen
33	chr3:120485800-120495200	Weak transcription	Stomach Smooth Muscle	stomach
34	chr3:120485800-120495400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr3:120486000-120498800	Weak transcription	Stomach Mucosa	stomach
36	chr3:120486000-120505000	Weak transcription	Colon Smooth Muscle	Colon
37	chr3:120486200-120495200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr3:120486200-120501600	Strong transcription	Primary B cells from cord blood	blood
39	chr3:120486200-120502000	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr3:120486400-120492600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr3:120486400-120492800	Weak transcription	NHEK	skin
42	chr3:120486400-120494800	Weak transcription	Liver	Liver
43	chr3:120486400-120495200	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr3:120486400-120499800	Weak transcription	NHLF	lung
45	chr3:120486400-120502000	Weak transcription	Pancreatic Islets	Pancreatic Islet
46	chr3:120486600-120495200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr3:120486600-120495800	Weak transcription	Brain Cingulate Gyrus	brain
48	chr3:120486600-120499200	Weak transcription	Ovary	ovary
49	chr3:120486600-120499800	Weak transcription	Fetal Stomach	stomach
50	chr3:120486800-120493000	Weak transcription	Osteobl	bone

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