Variant report

Variant	rs2470941
Chromosome Location	chr7:104582908-104582909
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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:

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

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10266287	0.86[ASN][1000 genomes]
rs10953460	0.87[ASN][1000 genomes]
rs2430484	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2430486	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2470938	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2470939	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2470940	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2470942	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2470943	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2470944	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2470945	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2470947	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2470948	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2470949	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2470950	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4727614	0.90[ASN][1000 genomes]
rs6955349	0.90[ASN][1000 genomes]
rs6965384	0.86[ASN][1000 genomes]
rs7776707	0.86[ASN][1000 genomes]
rs916705	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[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

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:104569800-104584000	Weak transcription	Esophagus	oesophagus
2	chr7:104573800-104583200	Weak transcription	Fetal Heart	heart
3	chr7:104580000-104585400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr7:104580400-104584000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr7:104580400-104584000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr7:104580400-104584000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr7:104580400-104584200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr7:104580400-104584200	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr7:104580600-104583800	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr7:104581000-104584000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr7:104581000-104584400	Active TSS	Rectal Mucosa Donor 29	rectum
12	chr7:104581000-104585600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr7:104581000-104586800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr7:104581400-104583200	Active TSS	Adipose Nuclei	Adipose
15	chr7:104581400-104584800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
16	chr7:104581800-104584200	Weak transcription	Fetal Muscle Trunk	muscle
17	chr7:104582000-104583400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
18	chr7:104582000-104584200	Active TSS	Duodenum Smooth Muscle	Duodenum
19	chr7:104582000-104585400	Enhancers	Fetal Intestine Large	intestine
20	chr7:104582000-104586400	Flanking Active TSS	Primary B cells from cord blood	blood
21	chr7:104582000-104586400	Flanking Active TSS	Primary B cells from peripheral blood	blood
22	chr7:104582200-104583200	Weak transcription	Lung	lung
23	chr7:104582200-104583200	Weak transcription	Stomach Mucosa	stomach
24	chr7:104582200-104583800	Weak transcription	HMEC	breast
25	chr7:104582200-104584200	Enhancers	Rectal Mucosa Donor 31	rectum
26	chr7:104582200-104584600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr7:104582400-104583200	Active TSS	Duodenum Mucosa	Duodenum
28	chr7:104582400-104583400	Weak transcription	HepG2	liver
29	chr7:104582400-104583600	Weak transcription	Brain Hippocampus Middle	brain
30	chr7:104582400-104583800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr7:104582400-104583800	Weak transcription	Fetal Kidney	kidney
32	chr7:104582400-104584000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr7:104582400-104584000	Enhancers	Primary neutrophils fromperipheralblood	blood
34	chr7:104582400-104584000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
35	chr7:104582400-104584000	Weak transcription	Rectal Smooth Muscle	rectum
36	chr7:104582400-104584000	Weak transcription	Stomach Smooth Muscle	stomach
37	chr7:104582400-104584000	Weak transcription	NH-A	brain
38	chr7:104582400-104584200	Weak transcription	Spleen	Spleen
39	chr7:104582400-104584400	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr7:104582400-104587200	Enhancers	Primary monocytes fromperipheralblood	blood
41	chr7:104582600-104583000	Weak transcription	Thymus	Thymus
42	chr7:104582600-104583200	Enhancers	Primary hematopoietic stem cells short term culture	blood
43	chr7:104582600-104583200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr7:104582600-104583200	Weak transcription	Fetal Intestine Small	intestine
45	chr7:104582600-104583200	Weak transcription	Fetal Thymus	thymus
46	chr7:104582600-104583400	Enhancers	Gastric	stomach
47	chr7:104582600-104583800	Enhancers	Primary T cells fromperipheralblood	blood
48	chr7:104582600-104583800	Enhancers	Primary T helper cells fromperipheralblood	blood
49	chr7:104582600-104584000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
50	chr7:104582600-104584000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood

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