Variant report

Variant	rs9423657
Chromosome Location	chr10:5607370-5607371
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:5573411..5576339-chr10:5606332..5608916,2	K562	blood:
2	chr10:5519872..5522197-chr10:5605865..5607475,2	MCF-7	breast:
3	chr10:5590969..5593951-chr10:5606368..5608078,2	K562	blood:
4	chr10:5488122..5490647-chr10:5604712..5607837,4	MCF-7	breast:
5	chr10:5606603..5608938-chr10:5627234..5631685,4	MCF-7	breast:
6	chr10:5593038..5596682-chr10:5605799..5608006,4	MCF-7	breast:
7	chr10:5486761..5489275-chr10:5607037..5608724,2	K562	blood:
8	chr10:5606200..5608461-chr10:5634669..5639030,3	K562	blood:

Variant related genes	Relation type
ENSG00000173848	Chromatin interaction
ENSG00000242147	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs4881480	0.93[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7899101	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 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	nsv549886	chr10:5205437-5632060	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
4	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
5	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
6	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
7	nsv1051283	chr10:5505474-5619941	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
8	nsv1049523	chr10:5542109-5619941	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
9	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
10	nsv1052002	chr10:5544571-5619941	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
11	nsv1038479	chr10:5545773-5619941	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
12	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
13	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
14	nsv894800	chr10:5572893-5621628	Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
15	nsv1044746	chr10:5595343-5619941	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
16	nsv894801	chr10:5600202-5631737	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:5588400-5608200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr10:5602600-5609400	Weak transcription	A549	lung
3	chr10:5605200-5607400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
4	chr10:5605200-5608800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr10:5605200-5611200	Enhancers	HMEC	breast
6	chr10:5605400-5608200	Enhancers	Placenta	Placenta
7	chr10:5605400-5608200	Enhancers	Placenta Amnion	Placenta Amnion
8	chr10:5605400-5608600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr10:5605400-5608600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr10:5605400-5608600	Bivalent Enhancer	Fetal Muscle Leg	muscle
11	chr10:5605400-5608600	Enhancers	HSMMtube	muscle
12	chr10:5605400-5608800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr10:5605400-5608800	Enhancers	NH-A	brain
14	chr10:5605400-5609000	Enhancers	NHDF-Ad	bronchial
15	chr10:5605400-5609200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr10:5605600-5607600	Enhancers	Fetal Intestine Large	intestine
17	chr10:5605600-5607600	Enhancers	Fetal Intestine Small	intestine
18	chr10:5605600-5608000	Enhancers	HSMM	muscle
19	chr10:5605600-5608800	Enhancers	Fetal Thymus	thymus
20	chr10:5605600-5609000	Weak transcription	Right Atrium	heart
21	chr10:5605800-5607400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
22	chr10:5605800-5607400	Enhancers	Muscle Satellite Cultured Cells	--
23	chr10:5605800-5607400	Enhancers	Lung	lung
24	chr10:5605800-5607400	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
25	chr10:5606000-5608000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr10:5606000-5608400	Enhancers	Esophagus	oesophagus
27	chr10:5606000-5609400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr10:5606200-5608000	Enhancers	HepG2	liver
29	chr10:5606200-5608200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr10:5606200-5609000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr10:5606600-5607600	Weak transcription	Fetal Stomach	stomach
32	chr10:5606600-5607800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr10:5606600-5608000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr10:5606600-5608400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr10:5606600-5608800	Enhancers	Osteobl	bone
36	chr10:5606800-5607400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
37	chr10:5606800-5607400	Enhancers	Rectal Mucosa Donor 31	rectum
38	chr10:5606800-5607600	Enhancers	Fetal Muscle Trunk	muscle
39	chr10:5606800-5607800	Weak transcription	NHLF	lung
40	chr10:5606800-5608000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
41	chr10:5606800-5608200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr10:5606800-5608400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
43	chr10:5606800-5608800	Enhancers	Primary T cells fromperipheralblood	blood
44	chr10:5606800-5608800	Enhancers	Primary T helper cells fromperipheralblood	blood
45	chr10:5607000-5607800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr10:5607000-5608200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
47	chr10:5607000-5608400	Enhancers	Primary T helper naive cells from peripheral blood	blood
48	chr10:5607000-5608800	Enhancers	Breast Myoepithelial Primary Cells	Breast
49	chr10:5607000-5608800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
50	chr10:5607000-5609200	Weak transcription	Duodenum Mucosa	Duodenum

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