Variant report

Variant	rs11992295
Chromosome Location	chr8:67586352-67586353
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:67526022..67527870-chr8:67584638..67587192,3	MCF-7	breast:
2	chr8:67582828..67585524-chr8:67585779..67587559,2	K562	blood:
3	chr8:67578785..67582683-chr8:67584567..67586838,3	MCF-7	breast:
4	chr8:67576102..67584643-chr8:67586059..67596736,15	K562	blood:
5	chr8:67578786..67582158-chr8:67585357..67589130,4	K562	blood:
6	chr8:67585153..67588222-chr8:67592127..67596094,3	K562	blood:

Variant related genes	Relation type
ENSG00000175073	Chromatin interaction
ENSG00000185697	Chromatin interaction
ENSG00000270024	Chromatin interaction
ENSG00000213865	Chromatin interaction

Extended variants
information (count: 89 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:87)

rs_ID	r²[population]
rs10504393	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11986831	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11987253	1.00[EUR][1000 genomes]
rs11987254	1.00[EUR][1000 genomes]
rs11987271	0.96[EUR][1000 genomes]
rs11987311	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11988213	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11990322	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11990331	0.80[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs11992252	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11993354	1.00[EUR][1000 genomes]
rs11994827	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11995031	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11995253	0.81[EUR][1000 genomes]
rs11995291	0.85[EUR][1000 genomes]
rs11997554	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11998194	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12114868	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16932983	0.85[EUR][1000 genomes]
rs16932985	0.85[EUR][1000 genomes]
rs16932996	1.00[EUR][1000 genomes]
rs16933013	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16933026	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16933032	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2357998	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2358000	0.85[EUR][1000 genomes]
rs28432871	0.83[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs28572179	0.85[EUR][1000 genomes]
rs28589429	0.85[EUR][1000 genomes]
rs34301114	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35078037	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35353562	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3808602	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3824258	0.96[EUR][1000 genomes]
rs4345540	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56682762	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56742359	0.85[EUR][1000 genomes]
rs56810217	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56911449	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57125106	0.96[EUR][1000 genomes]
rs57351080	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57858031	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58454063	0.85[EUR][1000 genomes]
rs58806068	0.85[EUR][1000 genomes]
rs59058682	1.00[ASN][1000 genomes]
rs59089124	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59410806	1.00[EUR][1000 genomes]
rs59643912	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60165103	0.80[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs60655524	0.80[EUR][1000 genomes]
rs60784079	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61469007	0.85[EUR][1000 genomes]
rs61589642	1.00[ASN][1000 genomes]
rs6982202	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6982407	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6986439	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6986940	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6988670	0.85[EUR][1000 genomes]
rs6991992	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6998505	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6998718	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7003548	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7008740	0.85[EUR][1000 genomes]
rs73248113	0.85[EUR][1000 genomes]
rs73248122	0.85[EUR][1000 genomes]
rs73248134	0.85[EUR][1000 genomes]
rs73248138	0.85[EUR][1000 genomes]
rs73250233	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73250238	1.00[EUR][1000 genomes]
rs73250241	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73250244	1.00[EUR][1000 genomes]
rs73250249	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73250250	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73250252	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73250262	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73251887	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73253909	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73253915	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73253964	1.00[ASN][1000 genomes]
rs73253968	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73261704	0.85[EUR][1000 genomes]
rs73261763	0.85[EUR][1000 genomes]
rs73261767	0.85[EUR][1000 genomes]
rs7828492	0.85[EUR][1000 genomes]
rs7830436	0.85[EUR][1000 genomes]
rs7840192	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7844944	0.85[EUR][1000 genomes]

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	esv3446467	chr8:66749863-67667068	Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	nsv831346	chr8:67486555-67675324	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:67580200-67601800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr8:67580400-67605000	Weak transcription	Stomach Mucosa	stomach
3	chr8:67580600-67624400	Weak transcription	Aorta	Aorta
4	chr8:67580600-67624400	Weak transcription	Ovary	ovary
5	chr8:67580800-67589200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr8:67580800-67589200	Weak transcription	Placenta	Placenta
7	chr8:67580800-67589400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr8:67580800-67589600	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr8:67580800-67589800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr8:67580800-67591200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr8:67580800-67594200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr8:67580800-67594800	Weak transcription	Pancreas	Pancrea
13	chr8:67580800-67602200	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr8:67580800-67603600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr8:67580800-67604000	Weak transcription	Gastric	stomach
16	chr8:67580800-67609200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr8:67580800-67609200	Weak transcription	Brain Cingulate Gyrus	brain
18	chr8:67580800-67623600	Weak transcription	Colonic Mucosa	Colon
19	chr8:67581000-67588800	Weak transcription	Fetal Muscle Leg	muscle
20	chr8:67581000-67589200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr8:67581000-67624600	Weak transcription	Spleen	Spleen
22	chr8:67581200-67588200	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr8:67581200-67588600	Weak transcription	Fetal Brain Female	brain
24	chr8:67581200-67588600	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr8:67581200-67588800	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr8:67581200-67589000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr8:67581200-67589600	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr8:67581200-67589600	Weak transcription	Stomach Smooth Muscle	stomach
29	chr8:67581200-67590400	Weak transcription	NHLF	lung
30	chr8:67581200-67594800	Weak transcription	Fetal Kidney	kidney
31	chr8:67581200-67601800	Weak transcription	Brain Substantia Nigra	brain
32	chr8:67581200-67601800	Weak transcription	HSMMtube	muscle
33	chr8:67581400-67586600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr8:67581400-67586600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr8:67581400-67586600	Weak transcription	Fetal Heart	heart
36	chr8:67581400-67586600	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr8:67581400-67586600	Weak transcription	HSMM	muscle
38	chr8:67581400-67586600	Weak transcription	Osteobl	bone
39	chr8:67581400-67586800	Weak transcription	HUVEC	blood vessel
40	chr8:67581400-67586800	Weak transcription	NHDF-Ad	bronchial
41	chr8:67581400-67587000	Weak transcription	Colon Smooth Muscle	Colon
42	chr8:67581400-67588000	Weak transcription	Primary T cells fromperipheralblood	blood
43	chr8:67581400-67588400	Weak transcription	Primary B cells from peripheral blood	blood
44	chr8:67581400-67588600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr8:67581400-67588600	Weak transcription	HMEC	breast
46	chr8:67581400-67588800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr8:67581400-67589000	Weak transcription	Thymus	Thymus
48	chr8:67581400-67589200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr8:67581400-67591000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr8:67581400-67591400	Weak transcription	NH-A	brain

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