Variant report

Variant	rs2720027
Chromosome Location	chr12:122159037-122159038
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:121837107..121838879-chr12:122158045..122160589,2	K562	blood:
2	chr12:122156541..122159503-chr12:122235365..122237113,2	MCF-7	breast:
3	chr12:122156937..122159607-chr12:122159966..122163609,5	K562	blood:
4	chr12:122156607..122159627-chr12:122162915..122168187,5	MCF-7	breast:
5	chr12:122151917..122156679-chr12:122158990..122161990,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000170633	Chromatin interaction
ENSG00000272849	Chromatin interaction
ENSG00000089053	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs1976656	0.80[JPT][hapmap]
rs2669172	0.86[GIH][hapmap]
rs2720034	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3741595	0.83[GIH][hapmap]
rs884884	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs925530	0.84[GIH][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 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
2	nsv1040169	chr12:122096825-122209555	Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122151600-122160800	Weak transcription	Aorta	Aorta
2	chr12:122151600-122186200	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr12:122151800-122159200	Weak transcription	Esophagus	oesophagus
4	chr12:122151800-122160600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr12:122152000-122161200	Weak transcription	Gastric	stomach
6	chr12:122152000-122162600	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr12:122152000-122164000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr12:122152000-122164000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr12:122152000-122164600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr12:122152000-122166400	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr12:122152000-122167400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr12:122152000-122182200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr12:122152000-122188000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr12:122152200-122160600	Weak transcription	Left Ventricle	heart
15	chr12:122152200-122161200	Weak transcription	Right Atrium	heart
16	chr12:122152200-122162800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr12:122152200-122162800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr12:122152200-122162800	Weak transcription	Liver	Liver
19	chr12:122152200-122165000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr12:122152200-122166600	Weak transcription	Ovary	ovary
21	chr12:122152200-122181600	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr12:122152200-122181800	Weak transcription	Right Ventricle	heart
23	chr12:122152200-122186400	Weak transcription	Duodenum Mucosa	Duodenum
24	chr12:122152200-122188000	Weak transcription	Brain Germinal Matrix	brain
25	chr12:122152200-122188000	Weak transcription	Dnd41	blood
26	chr12:122152200-122191600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr12:122152200-122191600	Weak transcription	Rectal Smooth Muscle	rectum
28	chr12:122152200-122200200	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr12:122152400-122161800	Weak transcription	Fetal Brain Male	brain
30	chr12:122152400-122171600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr12:122152400-122188000	Weak transcription	Stomach Smooth Muscle	stomach
32	chr12:122152800-122169200	Weak transcription	Fetal Brain Female	brain
33	chr12:122152800-122186200	Weak transcription	Pancreas	Pancrea
34	chr12:122153200-122159600	Strong transcription	Fetal Stomach	stomach
35	chr12:122153600-122166400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr12:122154000-122162800	Weak transcription	Brain Anterior Caudate	brain
37	chr12:122154000-122182200	Weak transcription	Primary T cells from cord blood	blood
38	chr12:122154200-122165200	Weak transcription	Fetal Intestine Large	intestine
39	chr12:122154200-122200400	Weak transcription	Psoas Muscle	Psoas
40	chr12:122155000-122165200	Weak transcription	HepG2	liver
41	chr12:122155200-122167000	Weak transcription	Lung	lung
42	chr12:122155200-122170000	Weak transcription	Adipose Nuclei	Adipose
43	chr12:122155200-122181600	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr12:122155200-122182400	Weak transcription	NHEK	skin
45	chr12:122155200-122186400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr12:122155400-122162600	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr12:122155400-122162800	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr12:122155400-122166400	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr12:122155400-122166600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr12:122155400-122169400	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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