Variant report

Variant	rs12297174
Chromosome Location	chr12:122904854-122904855
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:122879571..122888507-chr12:122899670..122909196,27	K562	blood:
2	chr12:122904832..122906414-chr12:122939257..122941013,2	MCF-7	breast:
3	chr12:122882564..122887396-chr12:122904302..122908331,13	MCF-7	breast:
4	chr12:122819260..122821230-chr12:122903461..122905626,2	K562	blood:
5	chr12:122904060..122906537-chr12:122948950..122950891,2	MCF-7	breast:
6	chr12:122902575..122904900-chr12:122907634..122909136,2	MCF-7	breast:
7	chr12:122903628..122906130-chr12:122965497..122967386,2	K562	blood:
8	chr12:122877588..122886723-chr12:122904086..122910536,22	K562	blood:
9	chr12:122878851..122886809-chr12:122904517..122908613,16	MCF-7	breast:
10	chr12:122902285..122904972-chr12:122905751..122909798,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000130779	Chromatin interaction
ENSG00000257097	Chromatin interaction
ENSG00000033030	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs12297513	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12300062	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12303070	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12303304	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12305053	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12312090	1.00[AMR][1000 genomes]
rs12314651	1.00[AMR][1000 genomes]
rs12319914	1.00[AMR][1000 genomes]
rs12320418	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7294383	1.00[AMR][1000 genomes]
rs7311062	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7959187	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7966324	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7972719	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7976224	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7976580	1.00[AMR][1000 genomes]
rs7977242	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs7980777	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 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	chr12:122860600-122905000	Weak transcription	Brain Germinal Matrix	brain
2	chr12:122863800-122905000	Weak transcription	Dnd41	blood
3	chr12:122884600-122905200	Weak transcription	Colonic Mucosa	Colon
4	chr12:122885200-122905200	Weak transcription	Fetal Muscle Trunk	muscle
5	chr12:122885200-122905400	Weak transcription	Fetal Thymus	thymus
6	chr12:122885200-122905400	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr12:122885200-122906000	Weak transcription	Ovary	ovary
8	chr12:122885400-122905000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr12:122885600-122905400	Weak transcription	NH-A	brain
10	chr12:122886200-122905400	Weak transcription	Right Ventricle	heart
11	chr12:122887200-122906200	Weak transcription	Lung	lung
12	chr12:122888800-122905000	Weak transcription	Esophagus	oesophagus
13	chr12:122889000-122905000	Weak transcription	Fetal Muscle Leg	muscle
14	chr12:122890000-122905000	Weak transcription	Primary T cells from cord blood	blood
15	chr12:122891000-122905200	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr12:122892600-122905000	Weak transcription	Fetal Intestine Large	intestine
17	chr12:122895200-122905200	Weak transcription	Fetal Heart	heart
18	chr12:122896200-122905000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr12:122896400-122905600	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr12:122897200-122905000	Weak transcription	Spleen	Spleen
21	chr12:122898000-122905000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr12:122898000-122905400	Weak transcription	Fetal Kidney	kidney
23	chr12:122898200-122905000	Weak transcription	Brain Substantia Nigra	brain
24	chr12:122898200-122905000	Weak transcription	Stomach Mucosa	stomach
25	chr12:122898200-122905000	Weak transcription	NHDF-Ad	bronchial
26	chr12:122898200-122905200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr12:122898200-122905600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr12:122898600-122905000	Weak transcription	Adipose Nuclei	Adipose
29	chr12:122898600-122905000	Weak transcription	Brain Anterior Caudate	brain
30	chr12:122898600-122905000	Weak transcription	Fetal Brain Female	brain
31	chr12:122898600-122905400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr12:122898800-122905000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr12:122898800-122905000	Weak transcription	Fetal Brain Male	brain
34	chr12:122898800-122905200	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr12:122899000-122905000	Weak transcription	Primary B cells from cord blood	blood
36	chr12:122899000-122905200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr12:122899000-122905200	Weak transcription	Primary hematopoietic stem cells	blood
38	chr12:122899000-122905200	Weak transcription	Right Atrium	heart
39	chr12:122899000-122905400	Weak transcription	NHEK	skin
40	chr12:122901000-122905000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr12:122901200-122905200	Weak transcription	Brain Cingulate Gyrus	brain
42	chr12:122901400-122905200	Enhancers	Skeletal Muscle Male	skeletal muscle
43	chr12:122901600-122905000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr12:122901600-122905200	Weak transcription	Fetal Stomach	stomach
45	chr12:122901800-122905800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
46	chr12:122902000-122905000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr12:122902200-122905200	Enhancers	Colon Smooth Muscle	Colon
48	chr12:122902200-122905400	Enhancers	HepG2	liver
49	chr12:122902400-122905000	Enhancers	Liver	Liver
50	chr12:122902400-122905000	Enhancers	A549	lung

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