Variant report

Variant	rs2919665
Chromosome Location	chr8:95465375-95465376
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:95460277..95461905-chr8:95464326..95467291,2	MCF-7	breast:
2	chr8:95448569..95451369-chr8:95462393..95465969,3	K562	blood:

Variant related genes	Relation type
ENSG00000265817	Chromatin interaction

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs1011249	0.83[EUR][1000 genomes]
rs10216902	0.83[EUR][1000 genomes]
rs1379246	0.83[ASN][1000 genomes]
rs1561648	0.86[EUR][1000 genomes]
rs1580498	0.92[EUR][1000 genomes]
rs1992371	0.84[EUR][1000 genomes]
rs2028428	0.81[EUR][1000 genomes]
rs2043987	0.86[EUR][1000 genomes]
rs2046665	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2046666	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2119460	0.82[ASN][1000 genomes]
rs2246066	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2445721	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2450558	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2450572	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2450578	0.86[ASN][1000 genomes]
rs2470718	0.81[ASN][1000 genomes]
rs2470728	0.83[ASN][1000 genomes]
rs2470731	0.83[ASN][1000 genomes]
rs2470732	0.83[ASN][1000 genomes]
rs2470735	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2470739	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2470740	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2470742	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2470746	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2515098	0.83[ASN][1000 genomes]
rs2515099	0.82[ASN][1000 genomes]
rs2515100	0.86[ASN][1000 genomes]
rs2515153	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2515154	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2515155	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2515156	0.83[ASN][1000 genomes]
rs2515161	0.83[ASN][1000 genomes]
rs2515165	0.83[ASN][1000 genomes]
rs2919654	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2919660	0.86[EUR][1000 genomes]
rs2919662	0.86[EUR][1000 genomes]
rs2919663	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2919666	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2919672	0.84[EUR][1000 genomes]
rs2919673	0.84[EUR][1000 genomes]
rs2921385	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2921387	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2921388	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2921389	0.86[EUR][1000 genomes]
rs2930958	0.84[EUR][1000 genomes]
rs2930959	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2930962	0.84[EUR][1000 genomes]
rs2930967	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2930968	0.86[EUR][1000 genomes]
rs2930969	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2930970	0.86[EUR][1000 genomes]
rs3019154	0.84[EUR][1000 genomes]
rs3019279	0.84[EUR][1000 genomes]
rs3098703	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3098725	0.84[ASN][1000 genomes]
rs3099397	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3099398	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3099401	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3099403	0.84[ASN][1000 genomes]
rs3099404	0.83[ASN][1000 genomes]
rs3099406	0.84[ASN][1000 genomes]
rs3102853	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3133635	0.84[ASN][1000 genomes]
rs6980687	0.83[EUR][1000 genomes]
rs935052	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1017301	chr8:95273503-96248352	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv539680	chr8:95273503-96248352	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv532338	chr8:95296118-95971825	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:95432400-95478600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr8:95442600-95465400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr8:95449400-95485200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr8:95449400-95486200	Weak transcription	Fetal Muscle Leg	muscle
5	chr8:95449800-95476200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr8:95449800-95479600	Weak transcription	NH-A	brain
7	chr8:95450000-95468200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr8:95450000-95486000	Weak transcription	Primary hematopoietic stem cells	blood
9	chr8:95450200-95480000	Weak transcription	NHEK	skin
10	chr8:95450400-95479800	Weak transcription	HMEC	breast
11	chr8:95450600-95478400	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr8:95450600-95484800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr8:95451400-95467800	Weak transcription	Small Intestine	intestine
14	chr8:95453000-95476000	Weak transcription	HUVEC	blood vessel
15	chr8:95453000-95476400	Weak transcription	Thymus	Thymus
16	chr8:95454000-95467400	Weak transcription	Primary T cells from cord blood	blood
17	chr8:95454000-95485600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr8:95454200-95485400	Weak transcription	Fetal Intestine Small	intestine
19	chr8:95455400-95485000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr8:95455600-95486200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr8:95456000-95471000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr8:95456000-95476200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr8:95457800-95465800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr8:95457800-95475600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr8:95458000-95465600	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr8:95458000-95466000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr8:95458000-95472200	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr8:95458000-95472400	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr8:95459800-95476400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr8:95460000-95466800	Weak transcription	Dnd41	blood
31	chr8:95460000-95485000	Weak transcription	HepG2	liver
32	chr8:95460600-95467400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr8:95460600-95471400	Weak transcription	Fetal Stomach	stomach
34	chr8:95460800-95467000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr8:95461200-95466000	Weak transcription	K562	blood
36	chr8:95461200-95467400	Weak transcription	A549	lung
37	chr8:95461200-95469600	Weak transcription	NHLF	lung
38	chr8:95462000-95486400	Weak transcription	Primary B cells from cord blood	blood
39	chr8:95462800-95468400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr8:95462800-95468800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr8:95464400-95479800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr8:95464400-95485800	Weak transcription	Duodenum Mucosa	Duodenum
43	chr8:95464600-95467000	Weak transcription	Fetal Lung	lung
44	chr8:95464800-95466600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr8:95465000-95466800	Weak transcription	GM12878-XiMat	blood
46	chr8:95465200-95467400	Strong transcription	HUES64 Cell Line	embryonic stem cell
47	chr8:95465200-95480600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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