Variant report

Variant	rs2470943
Chromosome Location	chr7:104583843-104583844
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

No data

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

No.	Distal block	Cell Line	Cell type
1	chr7:104568710..104570758-chr7:104582213..104584004,2	MCF-7	breast:
2	chr7:104581950..104584556-chr7:104591161..104593888,2	K562	blood:
3	chr7:104581695..104586955-chr7:104650737..104656079,18	K562	blood:
4	chr7:104579927..104586214-chr7:104652770..104656015,9	MCF-7	breast:
5	chr7:104581966..104590728-chr7:104651510..104656079,18	K562	blood:
6	chr7:104582853..104584946-chr7:104772599..104775288,2	K562	blood:
7	chr7:104575632..104577873-chr7:104582930..104585448,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000239569	Chromatin interaction
ENSG00000135250	Chromatin interaction
ENSG00000228393	Chromatin interaction
ENSG00000005483	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10266287	0.88[ASN][1000 genomes]
rs10953460	0.89[ASN][1000 genomes]
rs10953468	0.94[JPT][hapmap]
rs1142	0.81[JPT][hapmap]
rs1144	0.94[JPT][hapmap]
rs2192932	0.83[CHD][hapmap];0.93[GIH][hapmap];0.87[JPT][hapmap]
rs2299304	0.89[GIH][hapmap];0.94[JPT][hapmap]
rs2428161	0.82[CEU][hapmap];0.85[TSI][hapmap]
rs2430484	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2430486	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2470938	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2470939	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2470940	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2470941	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2470942	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2470944	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2470945	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2470947	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2470948	1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2470949	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2470950	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3823752	0.82[CHB][hapmap];0.93[JPT][hapmap]
rs4727614	0.92[ASN][1000 genomes]
rs6948885	0.94[JPT][hapmap]
rs6950620	0.89[GIH][hapmap];0.94[JPT][hapmap]
rs6955349	0.92[ASN][1000 genomes]
rs6965384	0.84[CEU][hapmap];0.88[CHB][hapmap];0.94[JPT][hapmap];0.88[ASN][1000 genomes]
rs6967587	0.94[JPT][hapmap]
rs7776707	0.84[CEU][hapmap];0.88[CHB][hapmap];0.83[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.83[MKK][hapmap];0.83[YRI][hapmap];0.88[ASN][1000 genomes]
rs7797912	0.89[GIH][hapmap];0.94[JPT][hapmap]
rs916705	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[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	nsv831086	chr7:104422503-104596766	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1029283	chr7:104571741-104729168	Strong transcription Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	132 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2470943	DNAJB9	cis	cerebellum	SCAN
rs2470943	RINT1	cis	cerebellum	SCAN

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:104569800-104584000	Weak transcription	Esophagus	oesophagus
2	chr7:104580000-104585400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr7:104580400-104584000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr7:104580400-104584000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr7:104580400-104584000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr7:104580400-104584200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr7:104580400-104584200	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr7:104581000-104584000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr7:104581000-104584400	Active TSS	Rectal Mucosa Donor 29	rectum
10	chr7:104581000-104585600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr7:104581000-104586800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr7:104581400-104584800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
13	chr7:104581800-104584200	Weak transcription	Fetal Muscle Trunk	muscle
14	chr7:104582000-104584200	Active TSS	Duodenum Smooth Muscle	Duodenum
15	chr7:104582000-104585400	Enhancers	Fetal Intestine Large	intestine
16	chr7:104582000-104586400	Flanking Active TSS	Primary B cells from cord blood	blood
17	chr7:104582000-104586400	Flanking Active TSS	Primary B cells from peripheral blood	blood
18	chr7:104582200-104584200	Enhancers	Rectal Mucosa Donor 31	rectum
19	chr7:104582200-104584600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr7:104582400-104584000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr7:104582400-104584000	Enhancers	Primary neutrophils fromperipheralblood	blood
22	chr7:104582400-104584000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
23	chr7:104582400-104584000	Weak transcription	Rectal Smooth Muscle	rectum
24	chr7:104582400-104584000	Weak transcription	Stomach Smooth Muscle	stomach
25	chr7:104582400-104584000	Weak transcription	NH-A	brain
26	chr7:104582400-104584200	Weak transcription	Spleen	Spleen
27	chr7:104582400-104584400	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr7:104582400-104587200	Enhancers	Primary monocytes fromperipheralblood	blood
29	chr7:104582600-104584000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
30	chr7:104582600-104584000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr7:104582600-104584000	Weak transcription	Osteobl	bone
32	chr7:104582600-104584200	Enhancers	Primary T killer memory cells from peripheral blood	blood
33	chr7:104582600-104584200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr7:104582600-104584200	Weak transcription	Right Atrium	heart
35	chr7:104582600-104584600	Enhancers	Pancreas	Pancrea
36	chr7:104582600-104585600	Enhancers	Primary hematopoietic stem cells	blood
37	chr7:104582800-104584000	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
38	chr7:104582800-104584200	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr7:104583000-104584000	Enhancers	Thymus	Thymus
40	chr7:104583000-104584600	Active TSS	Colonic Mucosa	Colon
41	chr7:104583000-104586200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr7:104583200-104584000	Enhancers	Hela-S3	cervix
43	chr7:104583200-104584400	Enhancers	Stomach Mucosa	stomach
44	chr7:104583200-104584600	Enhancers	Lung	lung
45	chr7:104583200-104584800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
46	chr7:104583200-104584800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
47	chr7:104583200-104585400	Enhancers	Fetal Thymus	thymus
48	chr7:104583200-104585600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr7:104583200-104586400	Enhancers	Fetal Heart	heart
50	chr7:104583200-104587200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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