Variant report

Variant	rs9971718
Chromosome Location	chr12:57812096-57812097
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:57810781..57813385-chr12:57826870..57828597,2	K562	blood:
2	chr12:57811377..57813186-chr12:57823163..57825515,2	MCF-7	breast:
3	chr12:57811921..57813504-chr12:57815181..57816847,2	K562	blood:

Variant related genes	Relation type
ENSG00000175189	Chromatin interaction
ENSG00000258001	Chromatin interaction
ENSG00000179912	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10083191	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs11172151	1.00[AMR][1000 genomes]
rs11172167	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs11172213	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11172219	0.88[AFR][1000 genomes]
rs12296737	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12310527	1.00[ASW][hapmap];0.94[LWK][hapmap];0.87[MKK][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12310686	1.00[AMR][1000 genomes]
rs12312567	1.00[ASW][hapmap];0.94[LWK][hapmap];0.87[MKK][hapmap];1.00[AMR][1000 genomes]
rs12312780	1.00[ASW][hapmap];0.88[LWK][hapmap];1.00[AMR][1000 genomes]
rs12312858	0.96[AFR][1000 genomes]
rs12314262	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12315459	1.00[AMR][1000 genomes]
rs12316507	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12317318	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12317897	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs12318999	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12319006	1.00[AMR][1000 genomes]
rs12320772	1.00[AMR][1000 genomes]
rs12322158	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12322514	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12322636	1.00[AMR][1000 genomes]
rs13377950	1.00[AMR][1000 genomes]
rs34000745	1.00[AMR][1000 genomes]
rs35958371	1.00[AMR][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	nsv1046013	chr12:57714676-57895167	Active TSS Enhancers Bivalent Enhancer Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases
2	nsv541502	chr12:57714676-57895167	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases
3	nsv899117	chr12:57811414-57926472	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
4	nsv899118	chr12:57811414-57946477	Weak transcription Strong transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers 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	106 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:57753200-57823800	Weak transcription	Esophagus	oesophagus
2	chr12:57766200-57816000	Weak transcription	Fetal Lung	lung
3	chr12:57770800-57824000	Weak transcription	Gastric	stomach
4	chr12:57774400-57819200	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr12:57780800-57823200	Weak transcription	Spleen	Spleen
6	chr12:57783800-57823200	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr12:57784200-57818000	Weak transcription	HSMM	muscle
8	chr12:57784400-57813600	Weak transcription	Primary hematopoietic stem cells	blood
9	chr12:57784400-57816400	Weak transcription	NHLF	lung
10	chr12:57786400-57815600	Weak transcription	Fetal Brain Female	brain
11	chr12:57786600-57813400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr12:57788600-57815200	Weak transcription	Fetal Intestine Large	intestine
13	chr12:57788600-57823200	Weak transcription	NHDF-Ad	bronchial
14	chr12:57789200-57823000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr12:57789400-57813400	Weak transcription	Lung	lung
16	chr12:57789400-57823200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr12:57789600-57815600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr12:57789600-57815800	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr12:57789600-57816200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr12:57789800-57813200	Weak transcription	Fetal Muscle Leg	muscle
21	chr12:57789800-57814400	Weak transcription	Duodenum Mucosa	Duodenum
22	chr12:57789800-57814600	Weak transcription	Fetal Muscle Trunk	muscle
23	chr12:57789800-57816000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr12:57789800-57816000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr12:57789800-57816200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr12:57790000-57813200	Weak transcription	Thymus	Thymus
27	chr12:57790000-57813600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr12:57790000-57814000	Weak transcription	Dnd41	blood
29	chr12:57790000-57814400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr12:57790000-57815400	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr12:57790000-57815800	Weak transcription	Placenta	Placenta
32	chr12:57790000-57815800	Weak transcription	GM12878-XiMat	blood
33	chr12:57790000-57816200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr12:57790000-57823200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr12:57795400-57813400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr12:57795400-57816000	Weak transcription	Brain Angular Gyrus	brain
37	chr12:57795400-57822000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr12:57795400-57823000	Weak transcription	Brain Substantia Nigra	brain
39	chr12:57795400-57823200	Weak transcription	Adipose Nuclei	Adipose
40	chr12:57795400-57823200	Weak transcription	Stomach Smooth Muscle	stomach
41	chr12:57795400-57823200	Weak transcription	HMEC	breast
42	chr12:57795400-57823600	Weak transcription	Aorta	Aorta
43	chr12:57795800-57813000	Weak transcription	Primary monocytes fromperipheralblood	blood
44	chr12:57795800-57823200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr12:57795800-57823200	Weak transcription	Right Ventricle	heart
46	chr12:57797000-57814400	Weak transcription	Fetal Stomach	stomach
47	chr12:57802400-57813600	Weak transcription	Fetal Thymus	thymus
48	chr12:57804400-57813800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
49	chr12:57805800-57813000	Weak transcription	Left Ventricle	heart
50	chr12:57805800-57814400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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