Variant report

Variant	rs17807929
Chromosome Location	chr4:8447862-8447863
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:8442733..8444744-chr4:8447806..8449869,2	MCF-7	breast:
2	chr4:8421637..8423534-chr4:8447080..8448932,2	K562	blood:
3	chr4:8445521..8448213-chr4:8465015..8467213,2	K562	blood:
4	chr4:8442271..8445405-chr4:8446237..8450088,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000155275	Chromatin interaction
ENSG00000087008	Chromatin interaction

Extended variants
information (count: 74 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs1060617	0.87[EUR][1000 genomes]
rs1106591	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13434465	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs16842352	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17194220	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17201848	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17202499	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17203215	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17203243	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17806817	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17806883	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17807994	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28507650	0.87[EUR][1000 genomes]
rs28664136	0.87[EUR][1000 genomes]
rs61739067	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62286002	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62286003	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62286005	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62286035	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62286036	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62286037	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62286038	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62286040	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62286041	0.87[EUR][1000 genomes]
rs62286042	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62286043	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62286044	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62286047	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62286049	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62286050	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62286052	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62286053	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62286054	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62286055	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62286056	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62286058	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62286059	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62287360	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62287361	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62287362	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62287382	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62287383	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62287384	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62287385	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62287387	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62287390	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62287391	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs62287392	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62287393	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62287394	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62287395	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62287396	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62287397	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62287399	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62287401	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62287402	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62287405	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62287406	0.93[EUR][1000 genomes]
rs62287433	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62287434	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62287435	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62287436	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62287439	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62287440	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62287441	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7686109	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs940132	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002794	chr4:8110083-8490934	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv878602	chr4:8214767-8448992	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv878604	chr4:8315938-8618916	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
4	nsv1002680	chr4:8357163-8721214	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv461220	chr4:8372944-8458394	Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv593638	chr4:8372944-8458394	Flanking Active TSS Active TSS Genic enhancers Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	nsv829854	chr4:8402921-8506407	Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:8443600-8455400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr4:8443800-8449000	Weak transcription	Lung	lung
3	chr4:8444000-8449400	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr4:8444000-8450400	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr4:8444000-8452800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr4:8444200-8448000	Weak transcription	NHLF	lung
7	chr4:8444200-8456800	Weak transcription	A549	lung
8	chr4:8444400-8448400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr4:8444400-8449200	Weak transcription	Colonic Mucosa	Colon
10	chr4:8444400-8452400	Weak transcription	Primary hematopoietic stem cells	blood
11	chr4:8444400-8455400	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr4:8444600-8448200	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr4:8444600-8449400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr4:8444600-8452800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr4:8444600-8455800	Weak transcription	NHDF-Ad	bronchial
16	chr4:8444800-8448000	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr4:8444800-8448200	Weak transcription	Aorta	Aorta
18	chr4:8444800-8449200	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr4:8444800-8449800	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr4:8444800-8452600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr4:8444800-8452600	Weak transcription	HUVEC	blood vessel
22	chr4:8444800-8453400	Weak transcription	Fetal Brain Male	brain
23	chr4:8444800-8458400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr4:8445000-8448000	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr4:8445000-8448000	Weak transcription	Spleen	Spleen
26	chr4:8445000-8448000	Weak transcription	Osteobl	bone
27	chr4:8445000-8448200	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr4:8445000-8448200	Weak transcription	Fetal Lung	lung
29	chr4:8445000-8449200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr4:8445000-8449600	Weak transcription	Fetal Thymus	thymus
31	chr4:8445000-8451000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr4:8445000-8452200	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr4:8445000-8454600	Weak transcription	NH-A	brain
34	chr4:8445000-8454800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
35	chr4:8445000-8460800	Weak transcription	Psoas Muscle	Psoas
36	chr4:8445200-8448000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr4:8445200-8448000	Weak transcription	Primary B cells from peripheral blood	blood
38	chr4:8445200-8448000	Weak transcription	Primary T cells fromperipheralblood	blood
39	chr4:8445200-8448000	Weak transcription	Pancreas	Pancrea
40	chr4:8445200-8448800	Weak transcription	Brain Hippocampus Middle	brain
41	chr4:8445200-8449000	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr4:8445200-8449200	Weak transcription	Brain Anterior Caudate	brain
43	chr4:8445200-8449200	Weak transcription	Gastric	stomach
44	chr4:8445200-8449200	Weak transcription	Rectal Smooth Muscle	rectum
45	chr4:8445200-8449600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr4:8445200-8454600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
47	chr4:8445200-8454600	Weak transcription	Small Intestine	intestine
48	chr4:8445200-8461400	Weak transcription	Hela-S3	cervix
49	chr4:8445400-8448800	Weak transcription	NHEK	skin
50	chr4:8445400-8449000	Weak transcription	Colon Smooth Muscle	Colon

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