Variant report

Variant	rs11995249
Chromosome Location	chr8:57904840-57904841
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:57891643..57894816-chr8:57903794..57907010,5	K562	blood:
2	chr8:57892210..57896083-chr8:57903794..57907547,6	K562	blood:

Variant related genes	Relation type
ENSG00000104331	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10003	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1044731	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10504213	0.80[ASN][1000 genomes]
rs1057409	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10958511	0.81[ASN][1000 genomes]
rs11777431	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs11784432	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11787472	0.81[ASN][1000 genomes]
rs12056416	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12543933	0.83[ASN][1000 genomes]
rs12546457	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs1354970	0.81[ASN][1000 genomes]
rs1354971	0.81[ASN][1000 genomes]
rs1354972	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs1354973	0.81[ASN][1000 genomes]
rs1472871	0.81[ASN][1000 genomes]
rs16921349	0.80[ASN][1000 genomes]
rs16921352	0.80[ASN][1000 genomes]
rs16921391	0.81[ASN][1000 genomes]
rs16921401	0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs16921404	0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs16921483	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16921485	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28362578	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2873556	0.85[ASN][1000 genomes]
rs35912151	0.83[ASN][1000 genomes]
rs4570152	0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs55744759	0.85[ASN][1000 genomes]
rs55820553	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55915041	0.81[ASN][1000 genomes]
rs56147332	0.81[ASN][1000 genomes]
rs56264228	0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs56360630	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs57357857	0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs58072329	0.81[ASN][1000 genomes]
rs60545677	0.81[ASN][1000 genomes]
rs6994212	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72647042	0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs72647043	0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs72647048	0.83[ASN][1000 genomes]
rs72647049	0.85[ASN][1000 genomes]
rs73681989	0.81[ASN][1000 genomes]
rs7813182	0.80[ASN][1000 genomes]
rs7816748	0.81[ASN][1000 genomes]
rs7817368	0.80[ASN][1000 genomes]
rs7822936	0.81[ASN][1000 genomes]
rs7830753	0.80[ASN][1000 genomes]
rs7831943	0.81[ASN][1000 genomes]
rs7832594	0.81[ASN][1000 genomes]
rs7835887	0.81[ASN][1000 genomes]
rs7836128	0.81[ASN][1000 genomes]
rs7838711	0.81[ASN][1000 genomes]
rs906538	0.80[ASN][1000 genomes]
rs965325	0.81[ASN][1000 genomes]
rs965326	0.81[ASN][1000 genomes]
rs965327	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	nsv1029443	chr8:57748114-58057656	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	esv3430321	chr8:57858417-58055129	Strong transcription Genic enhancers Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv1027125	chr8:57891279-58095884	Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:57877200-57905200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:57892800-57905000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr8:57896200-57905200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr8:57896200-57905400	Weak transcription	Spleen	Spleen
5	chr8:57897200-57905400	Weak transcription	Stomach Mucosa	stomach
6	chr8:57897600-57905200	Weak transcription	Gastric	stomach
7	chr8:57898000-57905000	Weak transcription	Aorta	Aorta
8	chr8:57900600-57905200	Weak transcription	Left Ventricle	heart
9	chr8:57900600-57905200	Weak transcription	Lung	lung
10	chr8:57901800-57907200	Active TSS	GM12878-XiMat	blood
11	chr8:57902400-57905000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
12	chr8:57903000-57905000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr8:57903000-57905200	Flanking Active TSS	Adipose Nuclei	Adipose
14	chr8:57903200-57907000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr8:57903400-57905000	Enhancers	Primary B cells from peripheral blood	blood
16	chr8:57903400-57905000	Flanking Active TSS	HUVEC	blood vessel
17	chr8:57903400-57905200	Weak transcription	Pancreas	Pancrea
18	chr8:57903400-57907200	Active TSS	Psoas Muscle	Psoas
19	chr8:57903600-57905000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr8:57903600-57905000	Flanking Active TSS	Fetal Brain Female	brain
21	chr8:57903600-57905000	Flanking Active TSS	Dnd41	blood
22	chr8:57903600-57905400	Enhancers	Fetal Heart	heart
23	chr8:57903600-57905600	Active TSS	ES-I3 Cell Line	embryonic stem cell
24	chr8:57903600-57905800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr8:57903600-57906800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr8:57903600-57907200	Active TSS	HUES6 Cell Line	embryonic stem cell
27	chr8:57903600-57907200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr8:57903800-57905200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr8:57903800-57905200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
30	chr8:57903800-57905400	Active TSS	HUES48 Cell Line	embryonic stem cell
31	chr8:57903800-57906000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr8:57903800-57907200	Active TSS	NHDF-Ad	bronchial
33	chr8:57904000-57905000	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
34	chr8:57904000-57905000	Enhancers	Placenta Amnion	Placenta Amnion
35	chr8:57904000-57905200	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr8:57904000-57905400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr8:57904000-57905400	Active TSS	HepG2	liver
38	chr8:57904000-57906600	Active TSS	K562	blood
39	chr8:57904000-57907000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr8:57904000-57907000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr8:57904000-57907200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr8:57904000-57907400	Active TSS	HMEC	breast
43	chr8:57904200-57905000	Flanking Active TSS	Liver	Liver
44	chr8:57904200-57905000	Flanking Active TSS	Duodenum Mucosa	Duodenum
45	chr8:57904200-57907200	Active TSS	Right Atrium	heart
46	chr8:57904200-57907400	Active TSS	Breast Myoepithelial Primary Cells	Breast
47	chr8:57904400-57905000	Flanking Active TSS	Brain Anterior Caudate	brain
48	chr8:57904400-57905000	Flanking Active TSS	Osteobl	bone
49	chr8:57904400-57905200	Flanking Active TSS	Primary T cells from cord blood	blood
50	chr8:57904400-57905200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood

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