Variant report

Variant	rs12441189
Chromosome Location	chr15:45340430-45340431
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11070436	1.00[CEU][hapmap]
rs11070439	1.00[CEU][hapmap]
rs11635836	1.00[CEU][hapmap]
rs11636558	1.00[CEU][hapmap]
rs11637679	1.00[CEU][hapmap]
rs12902975	1.00[CEU][hapmap]
rs12913288	1.00[CEU][hapmap]
rs13380326	1.00[CEU][hapmap]
rs1704792	0.82[CEU][hapmap]
rs199138	0.82[CHB][hapmap]
rs2036831	1.00[CEU][hapmap]
rs2437866	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs2470686	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2554451	0.82[CHB][hapmap]
rs269863	0.82[CHB][hapmap]
rs269868	0.82[CHB][hapmap]
rs3759890	1.00[CEU][hapmap]
rs452762	1.00[CEU][hapmap]
rs6493131	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs925350	1.00[CEU][hapmap]
rs963002	1.00[CEU][hapmap]

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	esv2758380	chr15:44968868-45422842	Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
2	esv2760029	chr15:44968868-45422842	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
3	nsv916374	chr15:45058112-45769052	Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
4	esv2757599	chr15:45100852-45383620	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
5	nsv977710	chr15:45316191-45360995	Strong transcription Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv932147	chr15:45319178-45872076	Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
7	esv3438009	chr15:45329164-45353245	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region lncRNA	2 gene(s)	inside rSNPs	n/a
8	nsv9260	chr15:45334818-45344949	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region lncRNA	1 gene(s)	inside rSNPs	n/a
9	nsv427961	chr15:45338381-45491634	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12441189	SORD	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:45316200-45340600	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr15:45316400-45341200	Weak transcription	Fetal Muscle Trunk	muscle
3	chr15:45316400-45342200	Weak transcription	HSMMtube	muscle
4	chr15:45316400-45342600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr15:45316600-45340600	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr15:45316600-45340600	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr15:45316600-45344200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr15:45316600-45351000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr15:45316600-45356600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr15:45316600-45366600	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr15:45316800-45340600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr15:45316800-45346400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr15:45319200-45363200	Weak transcription	Fetal Thymus	thymus
14	chr15:45319800-45340600	Weak transcription	Right Ventricle	heart
15	chr15:45319800-45363600	Weak transcription	Brain Angular Gyrus	brain
16	chr15:45322000-45340600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr15:45322000-45340600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr15:45322000-45340600	Weak transcription	Primary T cells from cord blood	blood
19	chr15:45322000-45341000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr15:45322600-45340600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr15:45323600-45341000	Weak transcription	Left Ventricle	heart
22	chr15:45323800-45340600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr15:45323800-45342600	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr15:45327600-45340600	Weak transcription	Brain Germinal Matrix	brain
25	chr15:45327600-45344400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr15:45327800-45341400	Weak transcription	Gastric	stomach
27	chr15:45328600-45340600	Weak transcription	Fetal Brain Female	brain
28	chr15:45329000-45341400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr15:45329400-45342400	Weak transcription	Primary T helper cells fromperipheralblood	blood
30	chr15:45329400-45356400	Weak transcription	Osteobl	bone
31	chr15:45329600-45350000	Weak transcription	A549	lung
32	chr15:45329800-45341000	Weak transcription	Brain Cingulate Gyrus	brain
33	chr15:45329800-45341200	Weak transcription	Fetal Muscle Leg	muscle
34	chr15:45329800-45341400	Weak transcription	Brain Hippocampus Middle	brain
35	chr15:45329800-45341400	Weak transcription	Brain Substantia Nigra	brain
36	chr15:45329800-45341400	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr15:45329800-45343600	Weak transcription	Rectal Smooth Muscle	rectum
38	chr15:45329800-45343800	Weak transcription	Primary T cells fromperipheralblood	blood
39	chr15:45329800-45345600	Weak transcription	Fetal Kidney	kidney
40	chr15:45329800-45350200	Weak transcription	Colon Smooth Muscle	Colon
41	chr15:45329800-45365800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr15:45330400-45340800	Weak transcription	Brain Anterior Caudate	brain
43	chr15:45330600-45341000	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr15:45331400-45369600	Weak transcription	Pancreas	Pancrea
45	chr15:45333400-45361200	Weak transcription	HUVEC	blood vessel
46	chr15:45335600-45340600	Weak transcription	Thymus	Thymus
47	chr15:45336000-45341000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
48	chr15:45336000-45342600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr15:45336400-45340600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr15:45336800-45341200	Strong transcription	Fetal Stomach	stomach

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