Variant report

Variant	rs574737483
Chromosome Location	chr2:178416442-178416443
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:178256384..178258999-chr2:178416044..178418294,3	K562	blood:
2	chr2:178415963..178418015-chr2:178480825..178484170,3	K562	blood:
3	chr2:178256384..178259130-chr2:178415368..178419750,5	K562	blood:
4	chr2:178416378..178418708-chr2:178482397..178484777,2	MCF-7	breast:
5	chr2:178075873..178078560-chr2:178415979..178418935,3	K562	blood:

Variant related genes	Relation type
ENSG00000263721	Chromatin interaction
ENSG00000213963	Chromatin interaction
ENSG00000229337	Chromatin interaction
ENSG00000170144	Chromatin interaction
ENSG00000116044	Chromatin interaction
ENSG00000197557	Chromatin interaction
ENSG00000018510	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

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	nsv999086	chr2:178262348-178773585	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv536055	chr2:178262348-178773585	Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv961534	chr2:178415704-178417609	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
4	esv2762964	chr2:178416394-178481818	Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:178358600-178417000	Weak transcription	Aorta	Aorta
2	chr2:178364400-178416600	Weak transcription	Esophagus	oesophagus
3	chr2:178372800-178416600	Weak transcription	A549	lung
4	chr2:178376200-178416600	Weak transcription	Pancreas	Pancrea
5	chr2:178388600-178416600	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr2:178389000-178416800	Weak transcription	Small Intestine	intestine
7	chr2:178389200-178416600	Weak transcription	Duodenum Mucosa	Duodenum
8	chr2:178389800-178416800	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr2:178390600-178416600	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr2:178392000-178416800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr2:178401000-178416600	Weak transcription	Lung	lung
12	chr2:178402800-178416600	Weak transcription	Stomach Smooth Muscle	stomach
13	chr2:178403600-178416600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr2:178403800-178416600	Weak transcription	Brain Substantia Nigra	brain
15	chr2:178403800-178416800	Weak transcription	Primary T helper cells fromperipheralblood	blood
16	chr2:178405400-178416600	Weak transcription	Monocytes-CD14+_RO01746	blood
17	chr2:178405400-178416800	Weak transcription	Primary neutrophils fromperipheralblood	blood
18	chr2:178406200-178416600	Weak transcription	HepG2	liver
19	chr2:178407800-178416800	Weak transcription	Fetal Brain Male	brain
20	chr2:178408800-178416600	Weak transcription	HSMM	muscle
21	chr2:178409600-178416600	Weak transcription	Osteobl	bone
22	chr2:178411400-178416800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr2:178411400-178416800	Weak transcription	Primary T cells from cord blood	blood
24	chr2:178411400-178416800	Weak transcription	Primary hematopoietic stem cells	blood
25	chr2:178411600-178416600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr2:178412000-178416600	Weak transcription	Adipose Nuclei	Adipose
27	chr2:178412000-178417000	Enhancers	HUVEC	blood vessel
28	chr2:178413400-178416800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr2:178413600-178416800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr2:178414200-178416600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr2:178414200-178416600	Weak transcription	GM12878-XiMat	blood
32	chr2:178414400-178416800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr2:178414600-178416600	Weak transcription	Fetal Lung	lung
34	chr2:178414600-178416800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr2:178414800-178416600	Weak transcription	Fetal Brain Female	brain
36	chr2:178415000-178417000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr2:178415200-178416600	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr2:178415400-178417000	Enhancers	Fetal Heart	heart
39	chr2:178415600-178416800	Enhancers	Fetal Kidney	kidney
40	chr2:178415800-178416600	Weak transcription	Fetal Stomach	stomach
41	chr2:178415800-178416600	Weak transcription	NHDF-Ad	bronchial
42	chr2:178415800-178416800	Weak transcription	K562	blood
43	chr2:178415800-178416800	Weak transcription	NHEK	skin
44	chr2:178416200-178416800	Enhancers	Right Ventricle	heart
45	chr2:178416200-178418400	Active TSS	Rectal Smooth Muscle	rectum
46	chr2:178416400-178416600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr2:178416400-178416600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr2:178416400-178416600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr2:178416400-178416600	Enhancers	Brain Angular Gyrus	brain
50	chr2:178416400-178416600	Enhancers	Brain Anterior Caudate	brain

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