Variant report

Variant	rs12322514
Chromosome Location	chr12:57820019-57820020
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:57813409..57817246-chr12:57818021..57820762,4	MCF-7	breast:
2	chr12:57819259..57822239-chr12:57822810..57827038,7	K562	blood:
3	chr12:57818127..57820766-chr12:57822757..57825481,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000179912	Chromatin interaction
ENSG00000258001	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10083191	1.00[AMR][1000 genomes]
rs11172151	1.00[AMR][1000 genomes]
rs11172167	1.00[AMR][1000 genomes]
rs11172213	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11172219	0.92[AFR][1000 genomes]
rs12296737	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12310527	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12310686	1.00[AMR][1000 genomes]
rs12312567	1.00[AMR][1000 genomes]
rs12312780	1.00[AMR][1000 genomes]
rs12312858	1.00[AFR][1000 genomes]
rs12314262	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12315459	1.00[AMR][1000 genomes]
rs12316507	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12317318	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12317897	1.00[AMR][1000 genomes]
rs12318999	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12319006	1.00[AMR][1000 genomes]
rs12320772	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12322158	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12322636	1.00[AMR][1000 genomes]
rs13377950	1.00[AMR][1000 genomes]
rs9971718	0.96[AFR][1000 genomes];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:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:57753200-57823800	Weak transcription	Esophagus	oesophagus
2	chr12:57770800-57824000	Weak transcription	Gastric	stomach
3	chr12:57780800-57823200	Weak transcription	Spleen	Spleen
4	chr12:57783800-57823200	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr12:57788600-57823200	Weak transcription	NHDF-Ad	bronchial
6	chr12:57789200-57823000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr12:57789400-57823200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr12:57790000-57823200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr12:57795400-57822000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr12:57795400-57823000	Weak transcription	Brain Substantia Nigra	brain
11	chr12:57795400-57823200	Weak transcription	Adipose Nuclei	Adipose
12	chr12:57795400-57823200	Weak transcription	Stomach Smooth Muscle	stomach
13	chr12:57795400-57823200	Weak transcription	HMEC	breast
14	chr12:57795400-57823600	Weak transcription	Aorta	Aorta
15	chr12:57795800-57823200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr12:57795800-57823200	Weak transcription	Right Ventricle	heart
17	chr12:57805800-57822600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr12:57806200-57822200	Weak transcription	Small Intestine	intestine
19	chr12:57808000-57823000	Weak transcription	NH-A	brain
20	chr12:57809400-57823000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr12:57809400-57823200	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr12:57809600-57822800	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr12:57809600-57823200	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr12:57809600-57823200	Weak transcription	Colon Smooth Muscle	Colon
25	chr12:57809600-57823400	Weak transcription	Fetal Kidney	kidney
26	chr12:57809800-57823200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr12:57810200-57823400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr12:57810200-57823400	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr12:57810600-57822400	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr12:57811200-57823000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr12:57811400-57822800	Weak transcription	A549	lung
32	chr12:57812000-57822800	Weak transcription	Hela-S3	cervix
33	chr12:57812000-57823200	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr12:57812200-57823200	Weak transcription	Brain Anterior Caudate	brain
35	chr12:57812200-57823200	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr12:57812200-57823200	Weak transcription	Ovary	ovary
37	chr12:57812600-57822800	Weak transcription	Right Atrium	heart
38	chr12:57812600-57823200	Weak transcription	Brain Cingulate Gyrus	brain
39	chr12:57812600-57823200	Weak transcription	Pancreas	Pancrea
40	chr12:57812600-57823200	Weak transcription	HSMMtube	muscle
41	chr12:57813000-57823200	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr12:57814000-57823200	Weak transcription	Brain Hippocampus Middle	brain
43	chr12:57814600-57822800	Weak transcription	K562	blood
44	chr12:57814600-57823000	Weak transcription	HUVEC	blood vessel
45	chr12:57814800-57822800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
46	chr12:57814800-57823200	Weak transcription	Rectal Smooth Muscle	rectum
47	chr12:57815000-57823000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
48	chr12:57815000-57823200	Weak transcription	Colonic Mucosa	Colon
49	chr12:57815000-57823200	Weak transcription	Psoas Muscle	Psoas
50	chr12:57815200-57823200	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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