Variant report

Variant	rs2380198
Chromosome Location	chr10:5638751-5638752
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYC	chr10:5638676-5638762	HUVEC	blood vessel:	n/a	n/a
2	TFAP2C	chr10:5637710-5639447	Hela-S3	cervix:	n/a	n/a
3	SMARCB1	chr10:5638330-5639605	Hela-S3	cervix:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:5634973..5639659-chr10:5649443..5654538,7	MCF-7	breast:
2	chr10:5637418..5639003-chr10:5650901..5653188,2	MCF-7	breast:
3	chr10:5488551..5493324-chr10:5634966..5640778,7	K562	blood:
4	chr10:5487394..5491238-chr10:5636789..5640542,6	MCF-7	breast:
5	chr10:5636705..5640848-chr10:5659114..5662313,5	MCF-7	breast:
6	chr10:5636886..5639693-chr10:5658929..5661685,2	MCF-7	breast:
7	chr10:5638529..5640411-chr10:5647235..5649668,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000242147	TF binding region
ENSG00000173848	Chromatin interaction
ENSG00000231483	Chromatin interaction
ENSG00000228951	Chromatin interaction

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

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

rs_ID	r²[population]
rs1106413	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2380195	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4570487	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534685	chr10:4914018-5853324	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv932104	chr10:5203626-5641023	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
3	nsv831774	chr10:5463556-5657421	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
4	nsv894798	chr10:5503610-5670275	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
5	nsv523491	chr10:5542109-5720067	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
6	esv2757364	chr10:5557024-5720512	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
7	esv2759729	chr10:5557024-5804780	Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
8	esv2758209	chr10:5637111-5804780	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
9	nsv1036798	chr10:5637870-5652754	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv1040932	chr10:5637870-5665774	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:5627400-5639400	Enhancers	Fetal Muscle Leg	muscle
2	chr10:5633800-5641600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr10:5634800-5651200	Weak transcription	Pancreas	Pancrea
4	chr10:5636000-5638800	Enhancers	Fetal Stomach	stomach
5	chr10:5636000-5639200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr10:5636000-5639800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
7	chr10:5636200-5639000	Enhancers	Skeletal Muscle Male	skeletal muscle
8	chr10:5636200-5639400	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr10:5636200-5639800	Enhancers	Fetal Heart	heart
10	chr10:5636200-5639800	Enhancers	Placenta Amnion	Placenta Amnion
11	chr10:5636400-5638800	Enhancers	HSMM	muscle
12	chr10:5636400-5639000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr10:5636400-5639600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr10:5636400-5639600	Enhancers	Esophagus	oesophagus
15	chr10:5636600-5638800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr10:5636600-5639600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr10:5637000-5640800	Weak transcription	Aorta	Aorta
18	chr10:5637200-5639000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr10:5637200-5639600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr10:5637400-5640000	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr10:5637600-5638800	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr10:5637600-5638800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr10:5637600-5639800	Enhancers	Placenta	Placenta
24	chr10:5637600-5641600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr10:5637800-5638800	Enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr10:5637800-5639200	Enhancers	Right Ventricle	heart
27	chr10:5638000-5639200	Enhancers	Fetal Muscle Trunk	muscle
28	chr10:5638000-5639600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr10:5638000-5639600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr10:5638000-5639600	Enhancers	NH-A	brain
31	chr10:5638000-5639600	Enhancers	NHDF-Ad	bronchial
32	chr10:5638000-5639800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr10:5638000-5642200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr10:5638200-5639600	Enhancers	Osteobl	bone
35	chr10:5638200-5640000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr10:5638200-5640200	Enhancers	HMEC	breast
37	chr10:5638200-5643400	Weak transcription	Primary hematopoietic stem cells	blood
38	chr10:5638400-5639200	Enhancers	Muscle Satellite Cultured Cells	--
39	chr10:5638400-5639600	Enhancers	A549	lung
40	chr10:5638400-5639600	Enhancers	HUVEC	blood vessel
41	chr10:5638400-5640200	Enhancers	Hela-S3	cervix
42	chr10:5638600-5638800	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr10:5638600-5639200	Enhancers	NHEK	skin
44	chr10:5638600-5640000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr10:5638600-5641800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr10:5638600-5641800	Weak transcription	Ovary	ovary
47	chr10:5638600-5643200	Weak transcription	Adipose Nuclei	Adipose
48	chr10:5638600-5643400	Weak transcription	Lung	lung
49	chr10:5638600-5643800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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