Variant report

Variant	rs73685743
Chromosome Location	chr8:62051527-62051528
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:61567081..61569634-chr8:62050277..62052303,2	K562	blood:
2	chr8:61589463..61592430-chr8:62051338..62054107,2	K562	blood:
3	chr8:62051294..62051870-chr8:62381197..62381952,2	MCF-7	breast:
4	chr8:62050920..62052213-chr8:62152653..62153352,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000171316	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11992507	1.00[EUR][1000 genomes]
rs16926906	1.00[EUR][1000 genomes]
rs16926938	1.00[EUR][1000 genomes]
rs1835758	1.00[EUR][1000 genomes]
rs56031720	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56175445	0.86[AFR][1000 genomes]
rs59775198	1.00[EUR][1000 genomes]
rs59832691	0.86[AFR][1000 genomes]
rs60420622	1.00[EUR][1000 genomes]
rs73685724	0.86[AFR][1000 genomes]
rs73685726	1.00[EUR][1000 genomes]
rs73685727	1.00[EUR][1000 genomes]
rs73685728	1.00[EUR][1000 genomes]
rs73685729	1.00[EUR][1000 genomes]
rs73685730	1.00[EUR][1000 genomes]
rs73685731	1.00[EUR][1000 genomes]
rs73685732	1.00[EUR][1000 genomes]
rs73685733	1.00[EUR][1000 genomes]
rs73685734	1.00[EUR][1000 genomes]
rs73685735	1.00[EUR][1000 genomes]
rs73685738	1.00[EUR][1000 genomes]
rs73685740	1.00[EUR][1000 genomes]
rs73685742	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948922	chr8:61818964-62475097	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv465698	chr8:62036793-62179465	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv611426	chr8:62036793-62179465	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1026243	chr8:62039073-62101123	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:62051000-62052600	Enhancers	Fetal Heart	heart
2	chr8:62051200-62051600	Enhancers	Primary B cells from peripheral blood	blood
3	chr8:62051200-62051600	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
4	chr8:62051200-62051600	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr8:62051200-62051600	Bivalent Enhancer	Fetal Intestine Small	intestine
6	chr8:62051400-62051600	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
7	chr8:62051400-62051600	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr8:62051400-62051600	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
9	chr8:62051400-62051600	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
10	chr8:62051400-62051600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr8:62051400-62051600	Enhancers	Primary T helper naive cells from peripheral blood	blood
12	chr8:62051400-62051600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
13	chr8:62051400-62051600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr8:62051400-62051600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
15	chr8:62051400-62051600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr8:62051400-62051600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr8:62051400-62051600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr8:62051400-62051600	Enhancers	Adipose Nuclei	Adipose
19	chr8:62051400-62051600	Enhancers	Liver	Liver
20	chr8:62051400-62051600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
21	chr8:62051400-62051600	Bivalent Enhancer	Fetal Lung	lung
22	chr8:62051400-62051600	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
23	chr8:62051400-62051600	Bivalent Enhancer	Fetal Muscle Leg	muscle
24	chr8:62051400-62051600	Flanking Bivalent TSS/Enh	Placenta	Placenta
25	chr8:62051400-62051600	Enhancers	Ovary	ovary
26	chr8:62051400-62051600	Enhancers	Pancreas	Pancrea
27	chr8:62051400-62051600	Active TSS	Rectal Mucosa Donor 31	rectum
28	chr8:62051400-62051600	Bivalent Enhancer	Stomach Mucosa	stomach
29	chr8:62051400-62051600	Bivalent/Poised TSS	A549	lung
30	chr8:62051400-62051600	Flanking Bivalent TSS/Enh	HepG2	liver
31	chr8:62051400-62051600	Bivalent Enhancer	HMEC	breast
32	chr8:62051400-62051600	Bivalent/Poised TSS	HSMMtube	muscle
33	chr8:62051400-62051600	Bivalent Enhancer	HUVEC	blood vessel
34	chr8:62051400-62051600	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
35	chr8:62051400-62051600	Bivalent Enhancer	NH-A	brain
36	chr8:62051400-62051600	Enhancers	NHDF-Ad	bronchial
37	chr8:62051400-62051800	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr8:62051400-62051800	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
39	chr8:62051400-62051800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr8:62051400-62051800	Enhancers	Breast Myoepithelial Primary Cells	Breast
41	chr8:62051400-62051800	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
42	chr8:62051400-62051800	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
43	chr8:62051400-62051800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
44	chr8:62051400-62051800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
45	chr8:62051400-62051800	Bivalent/Poised TSS	Primary T regulatory cells fromperipheralblood	blood
46	chr8:62051400-62051800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
47	chr8:62051400-62051800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr8:62051400-62051800	Flanking Active TSS	Brain Angular Gyrus	brain
49	chr8:62051400-62051800	Flanking Active TSS	Brain Anterior Caudate	brain
50	chr8:62051400-62051800	Flanking Active TSS	Duodenum Mucosa	Duodenum

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