Variant report

Variant	rs2919663
Chromosome Location	chr8:95470146-95470147
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:95458462..95461363-chr8:95468371..95470571,2	MCF-7	breast:
2	chr8:95468221..95471036-chr8:95478071..95480711,2	K562	blood:

Variant related genes	Relation type
ENSG00000197275	Chromatin interaction

Extended variants
information (count: 70 )
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	0.84[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	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2450572	0.84[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	0.84[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	0.84[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	0.98[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]
rs2919665	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2919666	0.94[AFR][1000 genomes];1.00[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	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2921387	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2921388	0.90[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	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2930962	0.84[EUR][1000 genomes]
rs2930967	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2930968	0.86[EUR][1000 genomes]
rs2930969	0.92[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	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3098725	0.84[ASN][1000 genomes]
rs3099397	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3099398	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3099401	0.99[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	0.93[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	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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
4	esv1835971	chr8:95467241-95490541	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:95432400-95478600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr8:95449400-95485200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr8:95449400-95486200	Weak transcription	Fetal Muscle Leg	muscle
4	chr8:95449800-95476200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr8:95449800-95479600	Weak transcription	NH-A	brain
6	chr8:95450000-95486000	Weak transcription	Primary hematopoietic stem cells	blood
7	chr8:95450200-95480000	Weak transcription	NHEK	skin
8	chr8:95450400-95479800	Weak transcription	HMEC	breast
9	chr8:95450600-95478400	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr8:95450600-95484800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr8:95453000-95476000	Weak transcription	HUVEC	blood vessel
12	chr8:95453000-95476400	Weak transcription	Thymus	Thymus
13	chr8:95454000-95485600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr8:95454200-95485400	Weak transcription	Fetal Intestine Small	intestine
15	chr8:95455400-95485000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr8:95455600-95486200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr8:95456000-95471000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr8:95456000-95476200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr8:95457800-95475600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr8:95458000-95472200	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr8:95458000-95472400	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr8:95459800-95476400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr8:95460000-95485000	Weak transcription	HepG2	liver
24	chr8:95460600-95471400	Weak transcription	Fetal Stomach	stomach
25	chr8:95462000-95486400	Weak transcription	Primary B cells from cord blood	blood
26	chr8:95464400-95479800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr8:95464400-95485800	Weak transcription	Duodenum Mucosa	Duodenum
28	chr8:95465200-95480600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr8:95466600-95471200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr8:95466800-95470600	Strong transcription	Dnd41	blood
31	chr8:95467000-95477200	Weak transcription	K562	blood
32	chr8:95467800-95473000	Weak transcription	A549	lung
33	chr8:95468000-95480400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr8:95468000-95485200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
35	chr8:95468400-95473600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr8:95468400-95479800	Weak transcription	Primary T cells from cord blood	blood
37	chr8:95468600-95485800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr8:95468800-95476400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr8:95468800-95477000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr8:95468800-95478200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr8:95468800-95479800	Weak transcription	NHDF-Ad	bronchial
42	chr8:95468800-95484800	Weak transcription	Fetal Lung	lung
43	chr8:95469000-95485600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr8:95469000-95486000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr8:95469200-95470800	Strong transcription	HUES64 Cell Line	embryonic stem cell
46	chr8:95469200-95479800	Weak transcription	Osteobl	bone
47	chr8:95469400-95470200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
48	chr8:95469400-95470200	Enhancers	GM12878-XiMat	blood
49	chr8:95469400-95470600	Strong transcription	Fetal Thymus	thymus
50	chr8:95469400-95475200	Weak transcription	Primary T helper cells PMA-I stimulated	--

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