Variant report

Variant	rs73695423
Chromosome Location	chr8:96224786-96224787
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:96223779..96226497-chr8:96236467..96238844,2	K562	blood:
2	chr8:96212357..96216108-chr8:96221721..96225402,5	MCF-7	breast:
3	chr8:96221802..96225274-chr8:96226379..96230011,4	K562	blood:
4	chr8:96224254..96224982-chr8:96236085..96236596,2	MCF-7	breast:
5	chr8:96215833..96219585-chr8:96222855..96225579,4	K562	blood:
6	chr8:96222215..96224892-chr8:96239784..96242279,2	MCF-7	breast:
7	chr8:96218170..96221837-chr8:96222580..96225075,3	MCF-7	breast:
8	chr8:96124242..96126154-chr8:96223005..96225325,2	MCF-7	breast:
9	chr8:96202933..96207621-chr8:96217016..96224905,7	MCF-7	breast:
10	chr8:96148386..96151549-chr8:96224432..96227854,3	MCF-7	breast:
11	chr8:96217038..96220399-chr8:96221117..96225068,5	MCF-7	breast:
12	chr8:96221181..96226002-chr8:96248062..96252220,6	MCF-7	breast:
13	chr8:96222030..96225621-chr8:96235538..96238037,4	MCF-7	breast:
14	chr8:96206048..96207695-chr8:96222331..96224850,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000253351	Chromatin interaction
ENSG00000253773	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs56142854	1.00[AMR][1000 genomes]
rs56145750	1.00[AMR][1000 genomes]
rs60219802	1.00[AMR][1000 genomes]
rs60579196	1.00[AMR][1000 genomes]
rs61012255	1.00[AMR][1000 genomes]
rs73695411	1.00[AMR][1000 genomes]
rs73695412	1.00[AMR][1000 genomes]
rs73695413	1.00[AMR][1000 genomes]
rs73695414	1.00[AMR][1000 genomes]
rs73695415	1.00[AMR][1000 genomes]
rs73695416	1.00[AMR][1000 genomes]
rs73695417	1.00[AMR][1000 genomes]
rs73695418	1.00[AMR][1000 genomes]
rs73695420	1.00[AMR][1000 genomes]
rs73695424	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs744496	0.91[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1017301	chr8:95273503-96248352	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv539680	chr8:95273503-96248352	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv523655	chr8:96205920-96239113	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	esv16466	chr8:96206151-96243934	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv516035	chr8:96208726-96235451	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv465740	chr8:96211820-96235451	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv611758	chr8:96211820-96235451	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv6315	chr8:96216465-96261671	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
9	nsv465741	chr8:96221122-96247835	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	nsv611759	chr8:96221122-96247835	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:96214200-96226400	Weak transcription	Right Atrium	heart
2	chr8:96214400-96233400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr8:96218800-96227000	Enhancers	Pancreas	Pancrea
4	chr8:96219400-96229600	Enhancers	Fetal Thymus	thymus
5	chr8:96219800-96225600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr8:96219800-96251800	Enhancers	Primary B cells from peripheral blood	blood
7	chr8:96220000-96227200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr8:96220200-96225600	Enhancers	K562	blood
9	chr8:96220600-96229400	Enhancers	Primary hematopoietic stem cells	blood
10	chr8:96220800-96226000	Weak transcription	Right Ventricle	heart
11	chr8:96220800-96226400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr8:96220800-96228000	Enhancers	Thymus	Thymus
13	chr8:96220800-96229600	Enhancers	Primary B cells from cord blood	blood
14	chr8:96221000-96228400	Enhancers	Primary T cells fromperipheralblood	blood
15	chr8:96221200-96224800	Enhancers	Liver	Liver
16	chr8:96221200-96228800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
17	chr8:96221400-96226000	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr8:96221400-96226200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr8:96221800-96225200	Enhancers	Stomach Mucosa	stomach
20	chr8:96221800-96226200	Weak transcription	Fetal Muscle Trunk	muscle
21	chr8:96222000-96228400	Enhancers	Primary T cells from cord blood	blood
22	chr8:96222400-96227800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
23	chr8:96222600-96227600	Enhancers	Primary T helper cells PMA-I stimulated	--
24	chr8:96222800-96225200	Weak transcription	Lung	lung
25	chr8:96222800-96226200	Enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr8:96222800-96227400	Enhancers	Primary T helper cells fromperipheralblood	blood
27	chr8:96222800-96227400	Enhancers	Primary T killer memory cells from peripheral blood	blood
28	chr8:96223000-96225400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
29	chr8:96223000-96226400	Weak transcription	Psoas Muscle	Psoas
30	chr8:96223000-96227600	Enhancers	Primary T helper naive cells from peripheral blood	blood
31	chr8:96223200-96225400	Enhancers	HepG2	liver
32	chr8:96223200-96226000	Weak transcription	Fetal Muscle Leg	muscle
33	chr8:96223200-96226400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
34	chr8:96223200-96228600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr8:96223400-96226000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
36	chr8:96223400-96227200	Enhancers	HMEC	breast
37	chr8:96223600-96224800	Enhancers	NHEK	skin
38	chr8:96223600-96225000	Enhancers	Sigmoid Colon	Sigmoid Colon
39	chr8:96223600-96225000	Enhancers	Hela-S3	cervix
40	chr8:96223600-96225000	Enhancers	HSMM	muscle
41	chr8:96223600-96225000	Enhancers	HSMMtube	muscle
42	chr8:96223600-96226400	Weak transcription	Left Ventricle	heart
43	chr8:96223600-96228000	Enhancers	Breast Myoepithelial Primary Cells	Breast
44	chr8:96223600-96237200	Weak transcription	Fetal Intestine Small	intestine
45	chr8:96223800-96225000	Enhancers	Placenta	Placenta
46	chr8:96223800-96225000	Enhancers	Gastric	stomach
47	chr8:96223800-96228800	Enhancers	Primary monocytes fromperipheralblood	blood
48	chr8:96223800-96229200	Enhancers	Primary neutrophils fromperipheralblood	blood
49	chr8:96224000-96224800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr8:96224000-96224800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin

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