Variant report

Variant	rs73592946
Chromosome Location	chr8:55065091-55065092
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:55048621..55051389-chr8:55064149..55065674,2	MCF-7	breast:
2	chr8:55012232..55015363-chr8:55063151..55067460,5	K562	blood:
3	chr8:55012350..55016130-chr8:55063151..55067016,6	K562	blood:
4	chr8:55046961..55051250-chr8:55057827..55066628,8	K562	blood:

Variant related genes	Relation type
ENSG00000137547	Chromatin interaction
ENSG00000120992	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10081501	0.97[AFR][1000 genomes]
rs10087770	0.92[AFR][1000 genomes]
rs10100207	0.97[AFR][1000 genomes]
rs28524857	0.97[AFR][1000 genomes]
rs28579846	0.96[AFR][1000 genomes]
rs28670350	0.97[AFR][1000 genomes]
rs73592950	0.84[AFR][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	nsv1023983	chr8:54790309-55145770	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv539623	chr8:54790309-55145770	Bivalent Enhancer Genic enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1026869	chr8:54989732-55089360	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:55048600-55065600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr8:55048600-55066200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr8:55049000-55065800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr8:55052600-55065600	Weak transcription	Fetal Heart	heart
5	chr8:55056800-55065600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr8:55057800-55066200	Weak transcription	Colonic Mucosa	Colon
7	chr8:55058800-55065800	Weak transcription	Small Intestine	intestine
8	chr8:55058800-55066200	Weak transcription	Psoas Muscle	Psoas
9	chr8:55060800-55065400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr8:55060800-55065600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr8:55061000-55066200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr8:55061400-55065400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr8:55061400-55065600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr8:55061400-55065600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr8:55061600-55065200	Weak transcription	Brain Angular Gyrus	brain
16	chr8:55061600-55065600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr8:55061600-55065600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr8:55061600-55065600	Weak transcription	HSMMtube	muscle
19	chr8:55061600-55065800	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr8:55061600-55065800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr8:55061600-55065800	Weak transcription	Pancreas	Pancrea
22	chr8:55061600-55065800	Weak transcription	Rectal Smooth Muscle	rectum
23	chr8:55061600-55065800	Weak transcription	Right Ventricle	heart
24	chr8:55061600-55065800	Weak transcription	Spleen	Spleen
25	chr8:55061600-55066800	Weak transcription	Esophagus	oesophagus
26	chr8:55061600-55078000	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr8:55061600-55078400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr8:55061800-55065600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr8:55061800-55065600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr8:55061800-55066000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr8:55062000-55065400	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr8:55062200-55078400	Weak transcription	Right Atrium	heart
33	chr8:55062400-55068400	Enhancers	HUVEC	blood vessel
34	chr8:55063000-55066600	Enhancers	Placenta	Placenta
35	chr8:55063000-55067200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr8:55063200-55065600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr8:55063400-55065600	Enhancers	NH-A	brain
38	chr8:55063400-55078400	Weak transcription	Ovary	ovary
39	chr8:55063600-55065200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr8:55063600-55065400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr8:55063600-55066400	Weak transcription	Brain Hippocampus Middle	brain
42	chr8:55063600-55067200	Enhancers	HMEC	breast
43	chr8:55063800-55065200	Weak transcription	Primary T helper cells PMA-I stimulated	--
44	chr8:55063800-55065400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr8:55063800-55065600	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr8:55063800-55065600	Enhancers	Primary hematopoietic stem cells	blood
47	chr8:55063800-55065600	Weak transcription	Fetal Lung	lung
48	chr8:55063800-55065800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr8:55063800-55065800	Weak transcription	Duodenum Mucosa	Duodenum
50	chr8:55063800-55065800	Weak transcription	Thymus	Thymus

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