Variant report

Variant	rs73333919
Chromosome Location	chr8:125379792-125379793
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	chr8:125366767..125369053-chr8:125379214..125381905,2	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

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]
rs57363865	1.00[EUR][1000 genomes]
rs73329564	1.00[EUR][1000 genomes]
rs73329572	1.00[EUR][1000 genomes]
rs73329581	1.00[EUR][1000 genomes]
rs73332169	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73332171	1.00[EUR][1000 genomes]
rs73332188	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73332193	1.00[EUR][1000 genomes]
rs73333906	1.00[EUR][1000 genomes]
rs73333922	1.00[EUR][1000 genomes]
rs73337905	1.00[EUR][1000 genomes]
rs73343183	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	chr8:125375600-125380000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
11	chr8:125376200-125380600	Enhancers	Primary T helper cells PMA-I stimulated	--
12	chr8:125376200-125380600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr8:125376200-125381600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
14	chr8:125376400-125382000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
15	chr8:125376600-125382000	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr8:125376800-125380800	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr8:125376800-125380800	Weak transcription	Primary monocytes fromperipheralblood	blood
18	chr8:125376800-125381600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr8:125376800-125381600	Weak transcription	Rectal Smooth Muscle	rectum
20	chr8:125376800-125382800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr8:125376800-125383400	Weak transcription	Esophagus	oesophagus
22	chr8:125377000-125381600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr8:125377000-125382000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr8:125377200-125380600	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr8:125377200-125380800	Weak transcription	Fetal Intestine Small	intestine
26	chr8:125377200-125380800	Weak transcription	NH-A	brain
27	chr8:125377200-125381400	Weak transcription	Colon Smooth Muscle	Colon
28	chr8:125377200-125381600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr8:125377200-125381600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr8:125377200-125381600	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr8:125377200-125381800	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr8:125377200-125381800	Weak transcription	NHEK	skin
33	chr8:125377200-125382000	Weak transcription	Adipose Nuclei	Adipose
34	chr8:125377200-125382000	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr8:125377200-125382400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr8:125377200-125382400	Weak transcription	Osteobl	bone
37	chr8:125377200-125382800	Weak transcription	Fetal Kidney	kidney
38	chr8:125377400-125380600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr8:125377400-125381200	Weak transcription	Fetal Lung	lung
40	chr8:125377400-125381800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr8:125377400-125382000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr8:125377400-125382000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr8:125377400-125382000	Weak transcription	Liver	Liver
44	chr8:125377400-125382600	Weak transcription	NHLF	lung
45	chr8:125377600-125380000	Weak transcription	Pancreatic Islets	Pancreatic Islet
46	chr8:125377600-125381400	Weak transcription	Monocytes-CD14+_RO01746	blood
47	chr8:125377800-125380000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr8:125377800-125380400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
49	chr8:125377800-125380600	Weak transcription	Primary hematopoietic stem cells	blood
50	chr8:125377800-125380600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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