Variant report

Variant	rs12374612
Chromosome Location	chr6:100955752-100955753
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	chr6:100948597..100951508-chr6:100955712..100957315,2	K562	blood:
2	chr6:100954917..100956828-chr6:100959849..100962215,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10457808	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10457809	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10782302	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs108422	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11155496	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11155498	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12190903	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12191199	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12192249	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12200565	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12206182	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12206564	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12206945	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12660725	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs151573	0.80[EUR][1000 genomes]
rs17303769	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1875400	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1875401	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2001102	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2062634	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2062635	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs239237	0.80[EUR][1000 genomes]
rs239238	0.80[EUR][1000 genomes]
rs239239	0.80[EUR][1000 genomes]
rs239242	0.80[EUR][1000 genomes]
rs239245	0.80[EUR][1000 genomes]
rs239246	0.80[EUR][1000 genomes]
rs239247	0.80[EUR][1000 genomes]
rs239249	0.80[EUR][1000 genomes]
rs2398132	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs240115	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs240143	0.80[EUR][1000 genomes]
rs240145	0.80[EUR][1000 genomes]
rs240146	0.80[EUR][1000 genomes]
rs240154	0.80[EUR][1000 genomes]
rs240164	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs240764	0.88[EUR][1000 genomes]
rs395521	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4461738	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62422675	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949535	chr6:100740293-101469052	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv1028122	chr6:100774245-100964347	Enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv1023710	chr6:100810738-101001115	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
4	nsv538388	chr6:100810738-101001115	Flanking Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Enhancers Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	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
rs12374612	ASCC3	cis	cerebellum	SCAN

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:100949800-100966400	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr6:100950200-100959000	Weak transcription	Pancreas	Pancrea
3	chr6:100950400-100959200	Weak transcription	Gastric	stomach
4	chr6:100951200-100959200	Weak transcription	Left Ventricle	heart
5	chr6:100951400-100959400	Weak transcription	HepG2	liver
6	chr6:100951400-100960000	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr6:100951600-100957000	Weak transcription	Small Intestine	intestine
8	chr6:100951600-100969800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr6:100952000-100956400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr6:100952200-100956000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr6:100952200-100957000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr6:100952400-100957000	Weak transcription	Duodenum Mucosa	Duodenum
13	chr6:100952400-100959800	Weak transcription	Stomach Smooth Muscle	stomach
14	chr6:100952600-100956800	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr6:100952600-100957000	Weak transcription	Fetal Lung	lung
16	chr6:100952600-100967600	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr6:100952800-100959000	Weak transcription	Fetal Intestine Small	intestine
18	chr6:100952800-100997400	Weak transcription	A549	lung
19	chr6:100953000-100956800	Weak transcription	Ovary	ovary
20	chr6:100953000-100957000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr6:100953000-100959000	Weak transcription	Fetal Stomach	stomach
22	chr6:100953000-100959200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr6:100953000-100968400	Weak transcription	Fetal Kidney	kidney
24	chr6:100953200-100959400	Weak transcription	NHEK	skin
25	chr6:100953200-100959600	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr6:100953200-100960000	Weak transcription	GM12878-XiMat	blood
27	chr6:100953200-100966200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr6:100953400-100956600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr6:100953400-100956800	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr6:100953400-100956800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr6:100953400-100957000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr6:100953400-100959000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr6:100953400-100959000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr6:100953400-100966600	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr6:100953400-100967400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr6:100953600-100956000	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr6:100953600-100956400	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr6:100953600-100956600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr6:100953600-100956800	Weak transcription	NHDF-Ad	bronchial
40	chr6:100953600-100957000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr6:100953600-100960200	Weak transcription	Aorta	Aorta
42	chr6:100953600-100960400	Weak transcription	NHLF	lung
43	chr6:100953800-100955800	Weak transcription	Primary T helper cells fromperipheralblood	blood
44	chr6:100953800-100956200	Weak transcription	Placenta	Placenta
45	chr6:100953800-100956800	Weak transcription	Primary monocytes fromperipheralblood	blood
46	chr6:100953800-100958400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
47	chr6:100954000-100959200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr6:100954000-100959200	Weak transcription	Fetal Muscle Leg	muscle
49	chr6:100954200-100956600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr6:100954200-100959200	Weak transcription	Lung	lung

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