Variant report

Variant	rs73318296
Chromosome Location	chr8:118825322-118825323
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	chr8:118818062..118819741-chr8:118823694..118825347,2	K562	blood:
2	8:118823602-118831545..8:119208477-119211356	H1-hESC	embryonic stem cell:	embryo

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs17474553	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17474804	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17503124	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17503314	1.00[AMR][1000 genomes]
rs17503607	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17503733	1.00[AMR][1000 genomes]
rs58975480	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6992365	1.00[AMR][1000 genomes]
rs73320135	0.84[AFR][1000 genomes];1.00[AMR][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	nsv1019636	chr8:118598433-118946091	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv539734	chr8:118598433-118946091	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv831439	chr8:118747352-118899118	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv933516	chr8:118764605-119009093	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:118801000-118843600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr8:118804200-118836000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr8:118804200-118838000	Strong transcription	HSMM	muscle
4	chr8:118805400-118826000	Strong transcription	NHLF	lung
5	chr8:118805400-118836800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr8:118805600-118849800	Strong transcription	Liver	Liver
7	chr8:118808400-118827000	Weak transcription	Hela-S3	cervix
8	chr8:118808600-118849400	Weak transcription	Stomach Mucosa	stomach
9	chr8:118810000-118843800	Weak transcription	Fetal Heart	heart
10	chr8:118814000-118842200	Weak transcription	Primary B cells from cord blood	blood
11	chr8:118815400-118834800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr8:118816800-118836800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
13	chr8:118817000-118828600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr8:118817000-118833600	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr8:118817200-118828200	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr8:118817200-118834600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr8:118817200-118852400	Weak transcription	Psoas Muscle	Psoas
18	chr8:118817200-118852400	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr8:118817400-118829000	Weak transcription	Primary hematopoietic stem cells	blood
20	chr8:118817400-118835800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr8:118818000-118825800	Strong transcription	Fetal Muscle Leg	muscle
22	chr8:118818600-118831600	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr8:118819000-118830600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr8:118819000-118831800	Weak transcription	Dnd41	blood
25	chr8:118819000-118842000	Weak transcription	Fetal Kidney	kidney
26	chr8:118819400-118829000	Weak transcription	Primary T helper cells fromperipheralblood	blood
27	chr8:118819600-118826600	Weak transcription	Primary T cells fromperipheralblood	blood
28	chr8:118819600-118826800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr8:118819600-118832200	Weak transcription	Primary T helper cells PMA-I stimulated	--
30	chr8:118819600-118851000	Weak transcription	Fetal Thymus	thymus
31	chr8:118820800-118825400	Strong transcription	Lung	lung
32	chr8:118820800-118829200	Strong transcription	Fetal Stomach	stomach
33	chr8:118822000-118825800	Strong transcription	Stomach Smooth Muscle	stomach
34	chr8:118822400-118825600	Strong transcription	Adipose Nuclei	Adipose
35	chr8:118822400-118829200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr8:118822600-118825600	Strong transcription	Fetal Intestine Large	intestine
37	chr8:118822600-118825600	Strong transcription	HSMMtube	muscle
38	chr8:118822600-118826800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr8:118822800-118826000	Strong transcription	Sigmoid Colon	Sigmoid Colon
40	chr8:118822800-118827600	Strong transcription	NHEK	skin
41	chr8:118822800-118828000	Strong transcription	Rectal Mucosa Donor 29	rectum
42	chr8:118822800-118835000	Strong transcription	Duodenum Mucosa	Duodenum
43	chr8:118822800-118835600	Strong transcription	Primary T cells from cord blood	blood
44	chr8:118823000-118825600	Strong transcription	Gastric	stomach
45	chr8:118823000-118825600	Strong transcription	HepG2	liver
46	chr8:118823000-118826400	Weak transcription	Fetal Lung	lung
47	chr8:118823000-118827000	Weak transcription	Placenta Amnion	Placenta Amnion
48	chr8:118823200-118825800	Strong transcription	Pancreas	Pancrea
49	chr8:118823200-118834800	Strong transcription	Fetal Muscle Trunk	muscle
50	chr8:118823600-118831600	Weak transcription	HUVEC	blood vessel

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