Variant report

Variant	rs12313701
Chromosome Location	chr12:50373938-50373939
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:50367636..50371210-chr12:50373031..50375237,3	K562	blood:
2	chr12:50372256..50375047-chr12:50375055..50377521,2	K562	blood:
3	chr12:50359065..50361531-chr12:50371208..50373985,2	K562	blood:

Variant related genes	Relation type
ENSG00000086159	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10219607	0.87[ASN][1000 genomes]
rs11169238	0.87[ASN][1000 genomes]
rs11169252	0.93[ASN][1000 genomes]
rs11503902	0.87[ASN][1000 genomes]
rs12313336	1.00[ASN][1000 genomes]
rs12322177	0.87[ASN][1000 genomes]
rs2292721	0.87[ASN][1000 genomes]
rs296748	0.87[ASN][1000 genomes]
rs296749	0.93[ASN][1000 genomes]
rs56773627	0.86[ASN][1000 genomes]
rs58424082	1.00[ASN][1000 genomes]
rs61147017	1.00[ASN][1000 genomes]
rs73297484	1.00[ASN][1000 genomes]
rs73297487	1.00[ASN][1000 genomes]
rs73297491	1.00[ASN][1000 genomes]
rs7972448	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045327	chr12:49975040-50551375	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases
2	nsv541490	chr12:49975040-50551375	Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases
3	nsv522972	chr12:50196394-50410831	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	nsv530671	chr12:50233858-50708991	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
5	nsv832407	chr12:50243268-50412236	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
6	nsv558835	chr12:50275137-50433234	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
7	nsv899072	chr12:50326176-50379667	Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
8	esv1827130	chr12:50349765-50379667	Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
9	nsv469374	chr12:50349765-50467769	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
10	nsv469375	chr12:50349765-50467769	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
11	nsv558837	chr12:50349765-50467769	Bivalent/Poised TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50362600-50385800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr12:50366400-50374600	Weak transcription	Fetal Kidney	kidney
3	chr12:50366600-50377400	Weak transcription	NHEK	skin
4	chr12:50367000-50378000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr12:50367400-50401200	Weak transcription	Gastric	stomach
6	chr12:50367600-50374800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr12:50368400-50374600	Weak transcription	Pancreas	Pancrea
8	chr12:50368400-50376000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr12:50369200-50374200	Weak transcription	Liver	Liver
10	chr12:50369200-50374600	Weak transcription	HSMMtube	muscle
11	chr12:50369200-50376000	Weak transcription	Fetal Lung	lung
12	chr12:50369200-50377400	Weak transcription	Right Ventricle	heart
13	chr12:50369200-50377600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr12:50369200-50381600	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr12:50369400-50377600	Weak transcription	Fetal Thymus	thymus
16	chr12:50369600-50377400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr12:50369600-50377400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr12:50369600-50379200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr12:50369600-50418200	Weak transcription	Colonic Mucosa	Colon
20	chr12:50369800-50376000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr12:50370000-50375200	Weak transcription	Colon Smooth Muscle	Colon
22	chr12:50370000-50377800	Weak transcription	Thymus	Thymus
23	chr12:50370200-50376000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr12:50371600-50375400	Enhancers	Fetal Stomach	stomach
25	chr12:50371800-50375000	Enhancers	Fetal Brain Female	brain
26	chr12:50371800-50376000	Weak transcription	Fetal Intestine Large	intestine
27	chr12:50372000-50374000	Enhancers	Fetal Heart	heart
28	chr12:50372000-50374400	Enhancers	HepG2	liver
29	chr12:50372000-50375000	Enhancers	Brain Cingulate Gyrus	brain
30	chr12:50372000-50375000	Enhancers	Brain Substantia Nigra	brain
31	chr12:50372000-50375200	Enhancers	Brain Angular Gyrus	brain
32	chr12:50372000-50375200	Enhancers	Brain Inferior Temporal Lobe	brain
33	chr12:50372000-50375600	Enhancers	Cortex derived primary cultured neurospheres	brain
34	chr12:50372200-50375200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr12:50372200-50378200	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr12:50372400-50404800	Weak transcription	Spleen	Spleen
37	chr12:50372600-50374000	Flanking Active TSS	Brain Hippocampus Middle	brain
38	chr12:50372800-50374400	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr12:50372800-50375800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr12:50373000-50376000	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr12:50373000-50377600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr12:50373000-50377800	Enhancers	Primary monocytes fromperipheralblood	blood
43	chr12:50373200-50374200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr12:50373200-50377400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr12:50373400-50374000	Enhancers	Monocytes-CD14+_RO01746	blood
46	chr12:50373400-50374400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr12:50373400-50374400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr12:50373400-50374400	Enhancers	Brain Germinal Matrix	brain
49	chr12:50373400-50374400	Weak transcription	Fetal Intestine Small	intestine
50	chr12:50373400-50374600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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