Variant report

Variant	rs55742122
Chromosome Location	chr12:122896551-122896552
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:122891906..122893949-chr12:122895058..122896769,2	K562	blood:
2	chr12:122896478..122900937-chr12:122902693..122908299,9	K562	blood:
3	chr12:122896486..122899994-chr12:122905510..122908485,3	MCF-7	breast:
4	chr12:122894837..122901534-chr12:122904361..122908038,12	MCF-7	breast:
5	chr12:122887097..122891186-chr12:122896000..122898774,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000130779	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs56255783	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56882949	0.86[AFR][1000 genomes]
rs56939641	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57569245	0.84[AFR][1000 genomes]
rs58388699	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58470544	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58862482	0.81[AFR][1000 genomes]
rs60133756	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61183779	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7132364	0.86[AFR][1000 genomes]
rs7298781	0.82[AFR][1000 genomes]
rs7962592	0.86[AFR][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:102 , 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	chr12:122863400-122897400	Weak transcription	Fetal Brain Female	brain
3	chr12:122863400-122897800	Weak transcription	Brain Substantia Nigra	brain
4	chr12:122863800-122905000	Weak transcription	Dnd41	blood
5	chr12:122884600-122897600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr12:122884600-122905200	Weak transcription	Colonic Mucosa	Colon
7	chr12:122885200-122897800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr12:122885200-122897800	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr12:122885200-122902400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr12:122885200-122902600	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr12:122885200-122904600	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr12:122885200-122905200	Weak transcription	Fetal Muscle Trunk	muscle
13	chr12:122885200-122905400	Weak transcription	Fetal Thymus	thymus
14	chr12:122885200-122905400	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr12:122885200-122906000	Weak transcription	Ovary	ovary
16	chr12:122885400-122898200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr12:122885400-122905000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr12:122885600-122897000	Weak transcription	HUVEC	blood vessel
19	chr12:122885600-122897400	Weak transcription	Primary neutrophils fromperipheralblood	blood
20	chr12:122885600-122905400	Weak transcription	NH-A	brain
21	chr12:122886200-122897600	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr12:122886200-122905400	Weak transcription	Right Ventricle	heart
23	chr12:122887000-122896600	Weak transcription	Left Ventricle	heart
24	chr12:122887200-122906200	Weak transcription	Lung	lung
25	chr12:122887600-122904800	Weak transcription	HMEC	breast
26	chr12:122888200-122896600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr12:122888600-122897800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr12:122888800-122897000	Weak transcription	Spleen	Spleen
29	chr12:122888800-122897400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr12:122888800-122905000	Weak transcription	Esophagus	oesophagus
31	chr12:122889000-122904600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr12:122889000-122905000	Weak transcription	Fetal Muscle Leg	muscle
33	chr12:122890000-122905000	Weak transcription	Primary T cells from cord blood	blood
34	chr12:122890400-122897400	Weak transcription	Primary B cells from cord blood	blood
35	chr12:122890600-122901200	Weak transcription	Fetal Stomach	stomach
36	chr12:122891000-122897800	Weak transcription	Duodenum Mucosa	Duodenum
37	chr12:122891000-122900000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr12:122891000-122900400	Weak transcription	Placenta	Placenta
39	chr12:122891000-122903000	Weak transcription	Pancreas	Pancrea
40	chr12:122891000-122905200	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr12:122891400-122897600	Weak transcription	Monocytes-CD14+_RO01746	blood
42	chr12:122891800-122897000	Weak transcription	Adipose Nuclei	Adipose
43	chr12:122891800-122897600	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr12:122891800-122897800	Weak transcription	Stomach Mucosa	stomach
45	chr12:122891800-122897800	Weak transcription	NHDF-Ad	bronchial
46	chr12:122891800-122897800	Weak transcription	NHEK	skin
47	chr12:122892000-122897600	Weak transcription	HSMM	muscle
48	chr12:122892000-122898000	Weak transcription	Osteobl	bone
49	chr12:122892000-122898200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr12:122892200-122897000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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