Variant report

Variant	rs13429046
Chromosome Location	chr2:39716690-39716691
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:39714157..39716923-chr2:39717549..39720547,2	K562	blood:
2	chr2:39663353..39665956-chr2:39712350..39718160,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000231312	Chromatin interaction
ENSG00000011566	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs13415549	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28667057	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6544231	1.00[ASN][1000 genomes]

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	nsv997934	chr2:39473548-39751029	Enhancers Strong transcription ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv833858	chr2:39684483-39856498	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:39697400-39722000	Weak transcription	Fetal Stomach	stomach
2	chr2:39697400-39722000	Weak transcription	Right Ventricle	heart
3	chr2:39697400-39724200	Weak transcription	Gastric	stomach
4	chr2:39702200-39726000	Weak transcription	Fetal Intestine Small	intestine
5	chr2:39705400-39719400	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr2:39705600-39719000	Weak transcription	Duodenum Mucosa	Duodenum
7	chr2:39705600-39721600	Weak transcription	Psoas Muscle	Psoas
8	chr2:39707400-39724200	Weak transcription	Fetal Brain Male	brain
9	chr2:39710800-39717800	Weak transcription	Primary B cells from cord blood	blood
10	chr2:39711400-39717400	Weak transcription	Stomach Mucosa	stomach
11	chr2:39711400-39718800	Weak transcription	K562	blood
12	chr2:39711600-39721800	Weak transcription	Left Ventricle	heart
13	chr2:39711600-39722000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr2:39711600-39722000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr2:39712400-39719200	Weak transcription	Fetal Heart	heart
16	chr2:39712400-39748600	Weak transcription	Aorta	Aorta
17	chr2:39713600-39722000	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr2:39713800-39721600	Weak transcription	Lung	lung
19	chr2:39714800-39722000	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr2:39715000-39722000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr2:39715600-39722000	Weak transcription	Small Intestine	intestine
22	chr2:39715800-39719600	Weak transcription	Adipose Nuclei	Adipose
23	chr2:39715800-39722000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr2:39716000-39717800	Weak transcription	NHLF	lung
25	chr2:39716000-39718800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr2:39716000-39718800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr2:39716000-39718800	Weak transcription	HMEC	breast
28	chr2:39716000-39718800	Weak transcription	HSMM	muscle
29	chr2:39716000-39718800	Weak transcription	Osteobl	bone
30	chr2:39716000-39719000	Weak transcription	HSMMtube	muscle
31	chr2:39716000-39719000	Weak transcription	HUVEC	blood vessel
32	chr2:39716000-39719200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr2:39716000-39719400	Weak transcription	Ovary	ovary
34	chr2:39716000-39721400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr2:39716000-39721400	Weak transcription	Pancreas	Pancrea
36	chr2:39716000-39721800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr2:39716000-39721800	Weak transcription	Right Atrium	heart
38	chr2:39716200-39718800	Weak transcription	NHDF-Ad	bronchial
39	chr2:39716200-39719000	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr2:39716200-39719400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr2:39716400-39717800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr2:39716400-39717800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr2:39716400-39717800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr2:39716400-39717800	Weak transcription	Placenta	Placenta
45	chr2:39716400-39718200	Weak transcription	Primary monocytes fromperipheralblood	blood
46	chr2:39716400-39718600	Weak transcription	A549	lung
47	chr2:39716400-39719000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr2:39716400-39719000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr2:39716400-39719000	Weak transcription	NH-A	brain
50	chr2:39716400-39720000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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