Variant report

Variant	rs57572550
Chromosome Location	chr2:178097792-178097793
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:178084709-178099695	HepG2	liver:	n/a	n/a
2	POLR2A	chr2:178097015-178097811	HepG2	liver:	n/a	n/a
3	POLR2A	chr2:178097011-178098045	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr2:178084575-178099648	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:178097414..178099677-chr2:178111706..178113385,2	MCF-7	breast:
2	chr2:178090995..178099266-chr2:178122532..178131742,19	MCF-7	breast:
3	chr2:178076192..178080226-chr2:178095783..178098816,4	MCF-7	breast:

Variant related genes	Relation type
NFE2L2	TF binding region
DNAJC19P5	TF binding region
ENSG00000116044	Chromatin interaction
ENSG00000263721	Chromatin interaction
ENSG00000170144	Chromatin interaction
ENSG00000229337	Chromatin interaction
ENSG00000222043	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs57320252	1.00[AMR][1000 genomes]
rs58023539	1.00[AMR][1000 genomes]
rs58549185	1.00[AMR][1000 genomes]
rs61130794	1.00[AMR][1000 genomes]
rs73023523	1.00[AMR][1000 genomes]
rs73025432	1.00[AMR][1000 genomes]
rs73025447	1.00[AMR][1000 genomes]
rs73025639	1.00[AMR][1000 genomes]
rs73029340	1.00[AMR][1000 genomes]
rs73029355	1.00[AMR][1000 genomes]
rs73031362	1.00[AMR][1000 genomes]
rs73031364	1.00[AMR][1000 genomes]
rs73031369	1.00[AMR][1000 genomes]
rs73035197	1.00[AMR][1000 genomes]
rs73039087	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	nsv834465	chr2:178067294-178115113	Weak transcription Enhancers Genic enhancers Strong transcription Active TSS Flanking 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	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:178078600-178121400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:178080600-178099800	Weak transcription	Right Atrium	heart
3	chr2:178081800-178101400	Strong transcription	Fetal Thymus	thymus
4	chr2:178084000-178110000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr2:178086400-178099400	Strong transcription	Rectal Mucosa Donor 29	rectum
6	chr2:178087600-178104800	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr2:178087600-178106400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr2:178090600-178098400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr2:178092000-178099600	Strong transcription	Fetal Kidney	kidney
10	chr2:178092200-178100000	Strong transcription	Sigmoid Colon	Sigmoid Colon
11	chr2:178092200-178101000	Strong transcription	NHLF	lung
12	chr2:178092200-178101200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr2:178092200-178102200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr2:178092400-178100600	Strong transcription	Osteobl	bone
15	chr2:178092400-178101200	Strong transcription	Primary B cells from cord blood	blood
16	chr2:178092400-178102600	Strong transcription	Primary T cells from cord blood	blood
17	chr2:178092800-178099600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr2:178092800-178099600	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr2:178092800-178101600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
20	chr2:178093000-178099000	Strong transcription	Primary neutrophils fromperipheralblood	blood
21	chr2:178093400-178098600	Strong transcription	Primary hematopoietic stem cells	blood
22	chr2:178093400-178099600	Strong transcription	Fetal Intestine Large	intestine
23	chr2:178093600-178098600	Genic enhancers	Brain Substantia Nigra	brain
24	chr2:178093600-178098800	Strong transcription	Placenta	Placenta
25	chr2:178093600-178099000	Strong transcription	Adipose Nuclei	Adipose
26	chr2:178093600-178099000	Strong transcription	Colon Smooth Muscle	Colon
27	chr2:178093600-178099000	Strong transcription	NH-A	brain
28	chr2:178093600-178099200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr2:178093600-178099400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr2:178093600-178099600	Strong transcription	Muscle Satellite Cultured Cells	--
31	chr2:178093600-178100600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr2:178093600-178100600	Strong transcription	HSMM	muscle
33	chr2:178093600-178101400	Strong transcription	Dnd41	blood
34	chr2:178093800-178098400	Strong transcription	Duodenum Smooth Muscle	Duodenum
35	chr2:178093800-178099200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr2:178093800-178099400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr2:178093800-178099400	Strong transcription	NHDF-Ad	bronchial
38	chr2:178093800-178100400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr2:178093800-178100600	Strong transcription	Primary monocytes fromperipheralblood	blood
40	chr2:178093800-178101200	Strong transcription	Rectal Mucosa Donor 31	rectum
41	chr2:178094000-178099000	Strong transcription	Primary T helper naive cells from peripheral blood	blood
42	chr2:178094000-178099000	Strong transcription	Fetal Lung	lung
43	chr2:178094000-178099000	Strong transcription	Lung	lung
44	chr2:178094000-178099000	Strong transcription	HUVEC	blood vessel
45	chr2:178094000-178099400	Strong transcription	Fetal Muscle Leg	muscle
46	chr2:178094000-178099600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr2:178094000-178099600	Strong transcription	K562	blood
48	chr2:178094000-178100200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr2:178094000-178100400	Strong transcription	Primary T helper cells fromperipheralblood	blood
50	chr2:178094000-178100600	Strong transcription	Fetal Muscle Trunk	muscle

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