Variant report

Variant	rs2380197
Chromosome Location	chr10:5637772-5637773
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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:

Variant related genes	Relation type
ENSG00000228951	Chromatin interaction
ENSG00000231483	Chromatin interaction
ENSG00000173848	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10904531	0.99[ASN][1000 genomes]
rs11253740	1.00[CEU][hapmap]
rs11254828	1.00[CEU][hapmap]
rs11254891	1.00[CEU][hapmap]
rs11255051	0.84[ASN][1000 genomes]
rs11255916	0.94[ASN][1000 genomes]
rs11259582	0.86[ASN][1000 genomes]
rs11259742	0.86[ASN][1000 genomes]
rs12263390	1.00[CEU][hapmap]
rs12263869	1.00[CEU][hapmap]
rs12269174	1.00[CEU][hapmap]
rs1544216	0.84[ASN][1000 genomes]
rs2380196	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28653026	0.90[EUR][1000 genomes]
rs3924378	1.00[CEU][hapmap]
rs4747358	0.82[ASN][1000 genomes]
rs57893347	0.87[ASN][1000 genomes]
rs61832660	0.97[ASN][1000 genomes]
rs61832676	0.87[ASN][1000 genomes]
rs7089693	1.00[CEU][hapmap]
rs72781996	0.87[ASN][1000 genomes]
rs7896078	0.84[ASN][1000 genomes]
rs7924096	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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	nsv1054865	chr10:5225305-5638119	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
4	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
5	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
6	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
7	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
8	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
9	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

No data

Chromatin state (count:60 , 50 per page) page: 1 2

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	chr10:5634200-5638200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr10:5634800-5651200	Weak transcription	Pancreas	Pancrea
5	chr10:5636000-5637800	Enhancers	Fetal Muscle Trunk	muscle
6	chr10:5636000-5638600	Enhancers	Fetal Thymus	thymus
7	chr10:5636000-5638800	Enhancers	Fetal Stomach	stomach
8	chr10:5636000-5639200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr10:5636000-5639800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
10	chr10:5636200-5637800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
11	chr10:5636200-5638000	Flanking Active TSS	NHDF-Ad	bronchial
12	chr10:5636200-5638200	Enhancers	Primary T cells from cord blood	blood
13	chr10:5636200-5638200	Enhancers	Hela-S3	cervix
14	chr10:5636200-5638600	Enhancers	Fetal Kidney	kidney
15	chr10:5636200-5639000	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chr10:5636200-5639400	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr10:5636200-5639800	Enhancers	Fetal Heart	heart
18	chr10:5636200-5639800	Enhancers	Placenta Amnion	Placenta Amnion
19	chr10:5636400-5637800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr10:5636400-5637800	Enhancers	Primary T helper cells PMA-I stimulated	--
21	chr10:5636400-5638400	Bivalent Enhancer	HepG2	liver
22	chr10:5636400-5638800	Enhancers	HSMM	muscle
23	chr10:5636400-5639000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr10:5636400-5639600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr10:5636400-5639600	Enhancers	Esophagus	oesophagus
26	chr10:5636600-5638600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr10:5636600-5638800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr10:5636600-5639600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr10:5636800-5637800	Weak transcription	Adipose Nuclei	Adipose
30	chr10:5636800-5637800	Weak transcription	Lung	lung
31	chr10:5636800-5638600	Enhancers	NHLF	lung
32	chr10:5637000-5637800	Enhancers	Muscle Satellite Cultured Cells	--
33	chr10:5637000-5638200	Flanking Active TSS	Osteobl	bone
34	chr10:5637000-5638600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr10:5637000-5638600	Enhancers	K562	blood
36	chr10:5637000-5638600	Flanking Active TSS	NHEK	skin
37	chr10:5637000-5640800	Weak transcription	Aorta	Aorta
38	chr10:5637200-5637800	Weak transcription	Fetal Intestine Large	intestine
39	chr10:5637200-5637800	Weak transcription	Right Ventricle	heart
40	chr10:5637200-5638000	Flanking Active TSS	NH-A	brain
41	chr10:5637200-5638200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr10:5637200-5638200	Flanking Active TSS	HMEC	breast
43	chr10:5637200-5639000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr10:5637200-5639600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr10:5637400-5638000	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr10:5637400-5638000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr10:5637400-5638200	Enhancers	Primary hematopoietic stem cells	blood
48	chr10:5637400-5638600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr10:5637400-5640000	Enhancers	Breast Myoepithelial Primary Cells	Breast
50	chr10:5637600-5637800	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood

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