Variant report

Variant	rs1861674
Chromosome Location	chr12:12589705-12589706
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:12588163..12590134-chr12:12591817..12594282,2	K562	blood:
2	chr12:12583518..12585650-chr12:12588474..12590636,2	K562	blood:
3	chr12:12588493..12590525-chr12:12592316..12593920,2	MCF-7	breast:
4	chr12:12586894..12590134-chr12:12591817..12594282,3	K562	blood:

Extended variants
information (count: 39 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs11830917	1.00[CHD][hapmap]
rs11831188	1.00[ASN][1000 genomes]
rs11831555	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs16908006	1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.81[MKK][hapmap];0.93[YRI][hapmap];0.80[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs16908019	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs16908222	1.00[CHD][hapmap]
rs17312912	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs2193270	0.93[ASW][hapmap];1.00[LWK][hapmap];0.90[MKK][hapmap];0.96[YRI][hapmap];0.84[AFR][1000 genomes]
rs3741797	1.00[CHD][hapmap]
rs4763288	1.00[JPT][hapmap]
rs4763289	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs4763824	0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs4763827	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4763828	0.97[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs4763831	0.82[CEU][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs4763837	1.00[CHD][hapmap]
rs56261569	0.81[ASN][1000 genomes]
rs58218344	0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs58529509	1.00[ASN][1000 genomes]
rs60022096	0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs60363317	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60971404	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6488521	1.00[ASN][1000 genomes]
rs6488523	0.96[YRI][hapmap];0.97[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6488524	0.97[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6488527	0.93[ASW][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.98[MKK][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7133988	0.82[CEU][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7134787	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs714480	1.00[JPT][hapmap];0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7306292	1.00[JPT][hapmap];0.93[YRI][hapmap];1.00[ASN][1000 genomes]
rs73287587	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7957014	0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7973069	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7975061	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7978842	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7980390	0.86[ASW][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];0.89[MKK][hapmap];1.00[ASN][1000 genomes]
rs888198	1.00[CHD][hapmap];1.00[JPT][hapmap];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	nsv949003	chr12:11938229-12618690	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	esv1812889	chr12:12510842-12593406	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1861674	C12orf60	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:12582600-12592000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr12:12582600-12595000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr12:12582600-12599400	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr12:12582800-12592600	Weak transcription	NH-A	brain
5	chr12:12582800-12596400	Weak transcription	Spleen	Spleen
6	chr12:12583000-12594000	Weak transcription	HSMMtube	muscle
7	chr12:12584000-12598600	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr12:12584200-12590200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr12:12584200-12592200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr12:12584200-12592800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr12:12584200-12593200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr12:12584400-12592000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr12:12585400-12593200	Weak transcription	Small Intestine	intestine
14	chr12:12585600-12590200	Weak transcription	HMEC	breast
15	chr12:12585600-12592000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr12:12585600-12592000	Weak transcription	HUVEC	blood vessel
17	chr12:12585600-12595200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr12:12585800-12595400	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr12:12586000-12593200	Weak transcription	Liver	Liver
20	chr12:12586000-12594200	Weak transcription	Hela-S3	cervix
21	chr12:12586000-12595000	Weak transcription	Adipose Nuclei	Adipose
22	chr12:12586200-12595000	Weak transcription	Colon Smooth Muscle	Colon
23	chr12:12586200-12595400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr12:12586600-12594200	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr12:12586800-12590400	Weak transcription	Osteobl	bone
26	chr12:12586800-12594000	Weak transcription	Right Ventricle	heart
27	chr12:12587000-12590800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr12:12587000-12591800	Weak transcription	NHEK	skin
29	chr12:12587000-12592200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr12:12587000-12592600	Weak transcription	Stomach Mucosa	stomach
31	chr12:12587000-12593800	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr12:12587000-12594800	Weak transcription	Aorta	Aorta
33	chr12:12587000-12594800	Weak transcription	Esophagus	oesophagus
34	chr12:12587000-12594800	Weak transcription	Placenta	Placenta
35	chr12:12587200-12593200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr12:12587200-12593800	Weak transcription	Fetal Intestine Small	intestine
37	chr12:12587200-12594000	Weak transcription	Brain Angular Gyrus	brain
38	chr12:12587200-12594000	Weak transcription	Lung	lung
39	chr12:12587200-12594000	Weak transcription	Psoas Muscle	Psoas
40	chr12:12587200-12594200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr12:12587200-12595200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr12:12587200-12596400	Weak transcription	Fetal Muscle Trunk	muscle
43	chr12:12587200-12596400	Weak transcription	Gastric	stomach
44	chr12:12587400-12590400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
45	chr12:12587400-12592200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr12:12587400-12592600	Weak transcription	Thymus	Thymus
47	chr12:12587400-12593200	Weak transcription	Fetal Muscle Leg	muscle
48	chr12:12587400-12593800	Weak transcription	Pancreas	Pancrea
49	chr12:12587400-12594000	Weak transcription	Brain Anterior Caudate	brain
50	chr12:12587400-12594200	Weak transcription	Brain Cingulate Gyrus	brain

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