Variant report

Variant	rs73333922
Chromosome Location	chr8:125380177-125380178
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:125371550..125374113-chr8:125379981..125382603,2	MCF-7	breast:
2	chr8:125366767..125369053-chr8:125379214..125381905,2	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10106094	1.00[EUR][1000 genomes]
rs10109751	1.00[EUR][1000 genomes]
rs16899450	1.00[EUR][1000 genomes]
rs28459835	1.00[EUR][1000 genomes]
rs28504426	1.00[EUR][1000 genomes]
rs28613347	1.00[EUR][1000 genomes]
rs28618989	1.00[EUR][1000 genomes]
rs56893629	0.88[AFR][1000 genomes]
rs57363865	1.00[EUR][1000 genomes]
rs58908685	0.88[AFR][1000 genomes]
rs66726154	0.90[AFR][1000 genomes]
rs73329564	1.00[EUR][1000 genomes]
rs73329572	1.00[EUR][1000 genomes]
rs73329581	1.00[EUR][1000 genomes]
rs73332169	1.00[EUR][1000 genomes]
rs73332171	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73332188	1.00[EUR][1000 genomes]
rs73332193	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73333906	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73333919	1.00[EUR][1000 genomes]
rs73333937	0.88[AFR][1000 genomes]
rs73337905	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73343183	1.00[EUR][1000 genomes]
rs7834261	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	esv2762769	chr8:125167256-125480574	Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv521356	chr8:125309055-125404763	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv1034768	chr8:125323011-125481733	Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv527751	chr8:125338216-125431030	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125362800-125382800	Weak transcription	Ovary	ovary
2	chr8:125367000-125380600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr8:125367200-125382000	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr8:125371400-125380600	Weak transcription	Fetal Brain Female	brain
5	chr8:125371400-125382800	Weak transcription	Fetal Intestine Large	intestine
6	chr8:125372000-125380600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr8:125372600-125380800	Weak transcription	Right Ventricle	heart
8	chr8:125373200-125381000	Weak transcription	Brain Germinal Matrix	brain
9	chr8:125374800-125380600	Weak transcription	Right Atrium	heart
10	chr8:125376200-125380600	Enhancers	Primary T helper cells PMA-I stimulated	--
11	chr8:125376200-125380600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr8:125376200-125381600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
13	chr8:125376400-125382000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
14	chr8:125376600-125382000	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr8:125376800-125380800	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr8:125376800-125380800	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr8:125376800-125381600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr8:125376800-125381600	Weak transcription	Rectal Smooth Muscle	rectum
19	chr8:125376800-125382800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr8:125376800-125383400	Weak transcription	Esophagus	oesophagus
21	chr8:125377000-125381600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr8:125377000-125382000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr8:125377200-125380600	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr8:125377200-125380800	Weak transcription	Fetal Intestine Small	intestine
25	chr8:125377200-125380800	Weak transcription	NH-A	brain
26	chr8:125377200-125381400	Weak transcription	Colon Smooth Muscle	Colon
27	chr8:125377200-125381600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr8:125377200-125381600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr8:125377200-125381600	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr8:125377200-125381800	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr8:125377200-125381800	Weak transcription	NHEK	skin
32	chr8:125377200-125382000	Weak transcription	Adipose Nuclei	Adipose
33	chr8:125377200-125382000	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr8:125377200-125382400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr8:125377200-125382400	Weak transcription	Osteobl	bone
36	chr8:125377200-125382800	Weak transcription	Fetal Kidney	kidney
37	chr8:125377400-125380600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr8:125377400-125381200	Weak transcription	Fetal Lung	lung
39	chr8:125377400-125381800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr8:125377400-125382000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr8:125377400-125382000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr8:125377400-125382000	Weak transcription	Liver	Liver
43	chr8:125377400-125382600	Weak transcription	NHLF	lung
44	chr8:125377600-125381400	Weak transcription	Monocytes-CD14+_RO01746	blood
45	chr8:125377800-125380400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr8:125377800-125380600	Weak transcription	Primary hematopoietic stem cells	blood
47	chr8:125377800-125380600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr8:125377800-125380600	Weak transcription	Duodenum Mucosa	Duodenum
49	chr8:125377800-125380800	Enhancers	Fetal Heart	heart
50	chr8:125377800-125380800	Weak transcription	Skeletal Muscle Female	skeletal muscle

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