Variant report

Variant	rs12544247
Chromosome Location	chr8:8731311-8731312
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:8718079..8719809-chr8:8729867..8732663,2	K562	blood:
2	chr8:8728731..8732330-chr8:8733587..8735622,3	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11998339	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12547614	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12548738	0.88[AMR][1000 genomes]
rs12549501	1.00[CEU][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2163386	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34743794	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4840371	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4841057	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59569366	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv890331	chr8:8093240-8971100	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv1019606	chr8:8353661-8736992	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv539456	chr8:8353661-8736992	Strong transcription Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv995047	chr8:8353662-8857913	Bivalent/Poised TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
5	nsv1022511	chr8:8493992-8737132	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
6	nsv539457	chr8:8493992-8737132	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
7	nsv831228	chr8:8608387-8790790	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
8	nsv1018828	chr8:8609880-8790660	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
9	nsv1022331	chr8:8610035-8787981	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
10	nsv917117	chr8:8621658-9313799	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
11	esv2757257	chr8:8707639-8747894	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
12	esv2759591	chr8:8707639-8747894	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
13	nsv818595	chr8:8712895-8752684	Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
14	nsv1030977	chr8:8725992-8739514	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
15	nsv1026305	chr8:8726128-8739514	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:8717800-8735200	Weak transcription	Esophagus	oesophagus
2	chr8:8718400-8742200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:8724600-8735000	Weak transcription	Brain Substantia Nigra	brain
4	chr8:8725800-8732800	Enhancers	Rectal Mucosa Donor 31	rectum
5	chr8:8726000-8731600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
6	chr8:8726000-8732200	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr8:8726000-8732200	Enhancers	Fetal Intestine Large	intestine
8	chr8:8726000-8732600	Enhancers	Duodenum Mucosa	Duodenum
9	chr8:8726800-8737600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr8:8726800-8737600	Weak transcription	NHEK	skin
11	chr8:8727200-8732800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr8:8727400-8732600	Enhancers	Stomach Mucosa	stomach
13	chr8:8727600-8731800	Enhancers	Sigmoid Colon	Sigmoid Colon
14	chr8:8727600-8733400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr8:8727800-8732800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr8:8727800-8733200	Enhancers	Liver	Liver
17	chr8:8728200-8731400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr8:8728200-8732200	Enhancers	Fetal Intestine Small	intestine
19	chr8:8728200-8732800	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr8:8728400-8732600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr8:8728400-8732600	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr8:8728800-8735000	Weak transcription	Brain Cingulate Gyrus	brain
23	chr8:8728800-8735200	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr8:8729000-8731400	Enhancers	Primary hematopoietic stem cells	blood
25	chr8:8729000-8731800	Flanking Active TSS	Dnd41	blood
26	chr8:8729200-8732800	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr8:8729400-8731400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr8:8729400-8731600	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr8:8729400-8732000	Enhancers	Brain Germinal Matrix	brain
30	chr8:8729400-8732800	Enhancers	iPS-20b Cell Line	embryonic stem cell
31	chr8:8729400-8732800	Enhancers	Fetal Lung	lung
32	chr8:8729400-8733800	Enhancers	NHDF-Ad	bronchial
33	chr8:8729400-8735200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr8:8729600-8731800	Enhancers	Small Intestine	intestine
35	chr8:8729600-8731800	Weak transcription	Hela-S3	cervix
36	chr8:8729600-8732000	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr8:8729800-8732400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr8:8730000-8731600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr8:8730000-8731600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr8:8730000-8732000	Enhancers	Fetal Kidney	kidney
41	chr8:8730000-8733000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr8:8730200-8731600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr8:8730200-8731800	Enhancers	Primary T cells fromperipheralblood	blood
44	chr8:8730200-8732800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr8:8730200-8733200	Enhancers	Osteobl	bone
46	chr8:8730400-8731400	Enhancers	HSMM	muscle
47	chr8:8730400-8731600	Enhancers	Primary hematopoietic stem cells short term culture	blood
48	chr8:8730400-8733200	Enhancers	Primary T helper cells fromperipheralblood	blood
49	chr8:8730400-8735200	Weak transcription	Brain Hippocampus Middle	brain
50	chr8:8730400-8742400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood

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