Variant report

Variant	rs2921385
Chromosome Location	chr8:95459348-95459349
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:95447010..95451504-chr8:95455439..95460158,7	MCF-7	breast:
2	chr8:95457485..95461818-chr8:95483964..95488470,4	MCF-7	breast:
3	chr8:95458462..95461363-chr8:95468371..95470571,2	MCF-7	breast:
4	chr8:95457907..95460212-chr8:95461963..95464531,2	K562	blood:

Variant related genes	Relation type
ENSG00000265817	Chromatin interaction
ENSG00000197275	Chromatin interaction

Extended variants
information (count: 96 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:93)

rs_ID	r²[population]
rs10095298	0.81[CEU][hapmap]
rs10102233	0.84[CEU][hapmap]
rs1011249	0.83[EUR][1000 genomes]
rs10216902	0.88[CEU][hapmap];0.83[TSI][hapmap];0.83[EUR][1000 genomes]
rs1023766	1.00[CHB][hapmap];0.83[CHD][hapmap];0.81[JPT][hapmap]
rs10504936	0.84[CEU][hapmap]
rs10956914	0.81[CEU][hapmap]
rs12545262	0.84[CEU][hapmap]
rs13280849	0.83[CEU][hapmap]
rs13281619	0.84[CEU][hapmap]
rs1372047	0.83[ASN][1000 genomes]
rs1561648	0.88[CEU][hapmap];0.86[EUR][1000 genomes]
rs1580498	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16916788	0.84[CEU][hapmap];0.81[TSI][hapmap]
rs16916802	0.84[CEU][hapmap]
rs1866845	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs1872889	0.84[CEU][hapmap]
rs1992371	0.84[EUR][1000 genomes]
rs2028428	0.81[EUR][1000 genomes]
rs2043987	0.86[EUR][1000 genomes]
rs2046665	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2046666	0.85[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.84[CHD][hapmap];0.89[GIH][hapmap];0.95[MEX][hapmap];0.91[TSI][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2099788	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs2119460	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs2246066	0.87[CEU][hapmap];1.00[CHB][hapmap];0.89[GIH][hapmap];0.95[TSI][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2291439	0.81[CEU][hapmap];0.81[TSI][hapmap]
rs2445721	0.96[CEU][hapmap];1.00[CHB][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2450558	0.96[CEU][hapmap];1.00[CHB][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2450572	0.96[CEU][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2450578	0.82[AMR][1000 genomes]
rs2450580	0.84[CEU][hapmap]
rs2470731	0.80[AMR][1000 genomes]
rs2470735	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2470739	0.96[CEU][hapmap];1.00[CHB][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2470740	0.96[CEU][hapmap];1.00[CHB][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2470742	0.96[CEU][hapmap];1.00[CHB][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2470746	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2515098	0.80[AMR][1000 genomes]
rs2515099	0.80[AMR][1000 genomes]
rs2515100	0.85[ASW][hapmap];0.84[CEU][hapmap];1.00[CHB][hapmap];0.81[CHD][hapmap];0.89[GIH][hapmap];0.95[MEX][hapmap];0.87[TSI][hapmap];0.82[AMR][1000 genomes]
rs2515153	0.92[CEU][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];0.93[GIH][hapmap];0.91[MEX][hapmap];0.93[TSI][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2515154	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2515155	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2515156	0.80[AMR][1000 genomes]
rs2515157	0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2515165	0.84[CEU][hapmap];1.00[CHB][hapmap]
rs2919654	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[YRI][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2919660	0.86[EUR][1000 genomes]
rs2919662	0.88[CEU][hapmap];0.86[EUR][1000 genomes]
rs2919663	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2919665	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2919666	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2919672	0.84[EUR][1000 genomes]
rs2919673	0.84[EUR][1000 genomes]
rs2921387	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2921388	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2921389	0.86[EUR][1000 genomes]
rs2930958	0.84[CEU][hapmap];0.83[TSI][hapmap];0.84[EUR][1000 genomes]
rs2930959	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2930962	0.84[CEU][hapmap];0.84[EUR][1000 genomes]
rs2930967	0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];0.95[MEX][hapmap];0.98[TSI][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2930968	0.88[CEU][hapmap];0.86[EUR][1000 genomes]
rs2930969	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2930970	0.86[EUR][1000 genomes]
rs3019146	0.84[CEU][hapmap]
rs3019154	0.84[CEU][hapmap];0.84[EUR][1000 genomes]
rs3019279	0.84[CEU][hapmap];0.84[EUR][1000 genomes]
rs3098703	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3098708	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs3098712	1.00[CHB][hapmap];0.82[CHD][hapmap];0.81[JPT][hapmap]
rs3098718	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs3098725	1.00[CHB][hapmap];0.83[CHD][hapmap];0.81[JPT][hapmap]
rs3099397	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3099398	0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.81[JPT][hapmap];0.95[MEX][hapmap];0.98[TSI][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3099401	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3099407	1.00[CHB][hapmap];0.86[CHD][hapmap];0.86[JPT][hapmap];0.86[ASN][1000 genomes]
rs3099412	1.00[CHB][hapmap];0.86[CHD][hapmap];0.86[JPT][hapmap];0.83[ASN][1000 genomes]
rs3102841	1.00[CHB][hapmap]
rs3102845	0.83[ASN][1000 genomes]
rs3102853	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3102874	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs3133637	0.83[ASN][1000 genomes]
rs3133648	1.00[CHB][hapmap];0.83[CHD][hapmap];0.81[JPT][hapmap]
rs3133651	1.00[CHB][hapmap];0.83[CHD][hapmap];0.81[JPT][hapmap]
rs3133654	1.00[CHB][hapmap];0.82[CHD][hapmap];0.81[JPT][hapmap]
rs3133656	1.00[CHB][hapmap];0.82[CHD][hapmap];0.81[JPT][hapmap]
rs3133657	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs3133658	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs4735292	0.84[CEU][hapmap]
rs4735294	0.88[CEU][hapmap];0.80[TSI][hapmap]
rs6980687	0.88[CEU][hapmap];0.81[TSI][hapmap];0.83[EUR][1000 genomes]
rs935052	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];1.00[TSI][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]
rs957446	1.00[CHB][hapmap];0.81[JPT][hapmap]

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:50 , 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	chr8:95450200-95464200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr8:95450200-95480000	Weak transcription	NHEK	skin
11	chr8:95450400-95460600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr8:95450400-95479800	Weak transcription	HMEC	breast
13	chr8:95450600-95478400	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr8:95450600-95484800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr8:95451400-95460000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr8:95451400-95467800	Weak transcription	Small Intestine	intestine
17	chr8:95453000-95476000	Weak transcription	HUVEC	blood vessel
18	chr8:95453000-95476400	Weak transcription	Thymus	Thymus
19	chr8:95454000-95459800	Weak transcription	Primary B cells from cord blood	blood
20	chr8:95454000-95462000	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr8:95454000-95464800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr8:95454000-95467400	Weak transcription	Primary T cells from cord blood	blood
23	chr8:95454000-95485600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr8:95454200-95460000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr8:95454200-95485400	Weak transcription	Fetal Intestine Small	intestine
26	chr8:95455000-95460000	Strong transcription	Dnd41	blood
27	chr8:95455200-95460000	ZNF genes & repeats	GM12878-XiMat	blood
28	chr8:95455400-95485000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr8:95455600-95486200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr8:95456000-95471000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr8:95456000-95476200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr8:95456600-95459800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr8:95456800-95460000	Enhancers	HepG2	liver
34	chr8:95457800-95459600	Weak transcription	K562	blood
35	chr8:95457800-95465800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr8:95457800-95475600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr8:95458000-95465200	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr8:95458000-95465600	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr8:95458000-95466000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr8:95458000-95472200	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr8:95458000-95472400	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr8:95458400-95459800	Enhancers	Fetal Lung	lung
43	chr8:95458600-95460200	Enhancers	Stomach Mucosa	stomach
44	chr8:95458800-95459600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr8:95458800-95459600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr8:95458800-95460600	Enhancers	Fetal Stomach	stomach
47	chr8:95458800-95460600	Enhancers	Gastric	stomach
48	chr8:95459000-95460000	Enhancers	Fetal Heart	heart
49	chr8:95459200-95460200	Flanking Active TSS	A549	lung
50	chr8:95459200-95461200	Enhancers	NHLF	lung

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