Variant report

Variant	rs2290467
Chromosome Location	chr8:99040154-99040155
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:99039036..99041305-chr8:99052525..99056666,3	K562	blood:
2	chr8:99039776..99042431-chr8:99049506..99054025,4	K562	blood:
3	chr8:98879915..98882903-chr8:99038974..99041852,2	MCF-7	breast:
4	chr8:99039510..99041898-chr8:99055972..99058591,2	K562	blood:
5	chr8:99038453..99041430-chr8:99041717..99044028,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000132561	Chromatin interaction
ENSG00000207067	Chromatin interaction
ENSG00000156482	Chromatin interaction
ENSG00000245970	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10098159	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10955141	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10955142	1.00[ASN][1000 genomes]
rs10955145	0.92[ASN][1000 genomes]
rs10955146	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10955147	0.86[ASN][1000 genomes]
rs11559201	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11559202	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11776602	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11777189	1.00[ASN][1000 genomes]
rs11784449	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11785807	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11990341	0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11991161	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11996042	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11997426	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12544193	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12549802	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12549967	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12550104	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13248865	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13254615	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs13254737	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs13255477	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs13265127	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13268951	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13274382	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13279197	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs13439743	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs16896517	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17755558	1.00[ASW][hapmap]
rs17829645	1.00[ASW][hapmap];1.00[JPT][hapmap]
rs2279120	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2290468	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2290469	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs28522929	0.88[AMR][1000 genomes]
rs3088121	1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34139241	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34276726	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34899856	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35417638	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3758031	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs55779959	1.00[ASN][1000 genomes]
rs56137923	1.00[ASN][1000 genomes]
rs57866232	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60324498	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68116021	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs68131553	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6985709	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6986891	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6987112	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7004993	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7012838	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7016999	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71514975	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72678742	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs812	1.00[CHB][hapmap];1.00[JPT][hapmap]

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	nsv1032904	chr8:98756076-99476925	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv539687	chr8:98756076-99476925	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:99008400-99045000	Weak transcription	Colonic Mucosa	Colon
2	chr8:99021200-99053600	Weak transcription	A549	lung
3	chr8:99021400-99043800	Weak transcription	Brain Germinal Matrix	brain
4	chr8:99022400-99055200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr8:99023800-99041200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr8:99024000-99044000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr8:99024000-99054800	Weak transcription	Right Ventricle	heart
8	chr8:99024200-99042800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr8:99024200-99055000	Weak transcription	Fetal Brain Male	brain
10	chr8:99024200-99056000	Weak transcription	Spleen	Spleen
11	chr8:99025000-99052800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr8:99025200-99045400	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr8:99025400-99045200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr8:99027600-99045400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr8:99028800-99045400	Weak transcription	Fetal Brain Female	brain
16	chr8:99029000-99053600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr8:99030000-99045000	Weak transcription	Primary T helper cells PMA-I stimulated	--
18	chr8:99030000-99045200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr8:99030400-99043200	Weak transcription	Esophagus	oesophagus
20	chr8:99030600-99042600	Weak transcription	Placenta	Placenta
21	chr8:99030600-99053400	Weak transcription	Pancreas	Pancrea
22	chr8:99030600-99056800	Weak transcription	Aorta	Aorta
23	chr8:99030800-99046400	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr8:99031000-99055400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr8:99032000-99044200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr8:99032200-99045800	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr8:99032400-99043200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr8:99032400-99043200	Weak transcription	Dnd41	blood
29	chr8:99032400-99046800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr8:99033000-99044000	Weak transcription	Primary T cells fromperipheralblood	blood
31	chr8:99033600-99044000	Weak transcription	Fetal Thymus	thymus
32	chr8:99033600-99045400	Weak transcription	HSMM	muscle
33	chr8:99033800-99041200	Weak transcription	Psoas Muscle	Psoas
34	chr8:99033800-99043400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr8:99033800-99043400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr8:99033800-99043400	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr8:99033800-99043600	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr8:99033800-99043800	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr8:99033800-99044000	Weak transcription	HSMMtube	muscle
40	chr8:99033800-99044000	Weak transcription	NHDF-Ad	bronchial
41	chr8:99033800-99044400	Weak transcription	Primary hematopoietic stem cells	blood
42	chr8:99033800-99045600	Weak transcription	Thymus	Thymus
43	chr8:99033800-99045600	Weak transcription	HMEC	breast
44	chr8:99033800-99054800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr8:99033800-99055200	Weak transcription	Small Intestine	intestine
46	chr8:99033800-99055600	Weak transcription	Left Ventricle	heart
47	chr8:99034000-99044000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr8:99034000-99045800	Weak transcription	GM12878-XiMat	blood
49	chr8:99034200-99043200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr8:99034200-99050800	Weak transcription	Colon Smooth Muscle	Colon

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