Variant report

Variant	rs73197728
Chromosome Location	chr8:8934539-8934540
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:8929863..8933165-chr8:8933617..8936213,3	MCF-7	breast:
2	chr8:8931416..8936474-chr8:8938271..8941320,7	K562	blood:
3	chr8:8932762..8934557-chr8:8938134..8939929,2	MCF-7	breast:
4	chr8:8932442..8934749-chr8:8960194..8961935,2	K562	blood:
5	chr8:8932433..8935466-chr8:8936336..8937882,3	K562	blood:
6	chr8:8923309..8925417-chr8:8931144..8934790,3	K562	blood:

Variant related genes	Relation type
ENSG00000239078	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10087078	0.93[EUR][1000 genomes]
rs11782826	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17646379	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28393018	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4841096	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs68028738	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73197730	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs73197735	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73197740	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv890331	chr8:8093240-8971100	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv917117	chr8:8621658-9313799	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv1022468	chr8:8857853-9209167	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv539460	chr8:8857853-9209167	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	nsv817373	chr8:8857854-9361049	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:8916000-8935200	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr8:8924000-8936200	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr8:8924000-8937800	Weak transcription	Lung	lung
4	chr8:8924000-8939600	Weak transcription	Right Ventricle	heart
5	chr8:8929600-8940000	Weak transcription	Aorta	Aorta
6	chr8:8930200-8940400	Enhancers	Fetal Intestine Large	intestine
7	chr8:8930800-8935800	Enhancers	HUVEC	blood vessel
8	chr8:8930800-8936400	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr8:8931600-8935200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr8:8931600-8938000	Enhancers	Placenta	Placenta
11	chr8:8931800-8940800	Enhancers	Fetal Intestine Small	intestine
12	chr8:8932000-8935400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr8:8932000-8937800	Enhancers	Fetal Heart	heart
14	chr8:8932600-8937200	Weak transcription	Gastric	stomach
15	chr8:8932600-8937400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr8:8932600-8939600	Weak transcription	Ovary	ovary
17	chr8:8932600-8951800	Weak transcription	Pancreas	Pancrea
18	chr8:8932800-8936200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr8:8932800-8939200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr8:8932800-8945600	Weak transcription	Thymus	Thymus
21	chr8:8933000-8934600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr8:8933000-8934600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr8:8933000-8935600	Enhancers	NHDF-Ad	bronchial
24	chr8:8933000-8936000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr8:8933000-8936200	Weak transcription	Duodenum Mucosa	Duodenum
26	chr8:8933000-8936400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr8:8933000-8937800	Weak transcription	Liver	Liver
28	chr8:8933000-8937800	Enhancers	Rectal Mucosa Donor 31	rectum
29	chr8:8933000-8939400	Enhancers	K562	blood
30	chr8:8933200-8934600	Weak transcription	HSMM	muscle
31	chr8:8933200-8934800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr8:8933200-8934800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr8:8933200-8935000	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr8:8933200-8935400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr8:8933200-8935400	Enhancers	NH-A	brain
36	chr8:8933200-8935400	Enhancers	Osteobl	bone
37	chr8:8933200-8935600	Enhancers	Skeletal Muscle Male	skeletal muscle
38	chr8:8933200-8935800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr8:8933200-8935800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr8:8933200-8935800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr8:8933200-8935800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
42	chr8:8933200-8936200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr8:8933200-8936600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr8:8933200-8936800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr8:8933200-8937000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr8:8933200-8937000	Weak transcription	Primary neutrophils fromperipheralblood	blood
47	chr8:8933200-8937000	Enhancers	Hela-S3	cervix
48	chr8:8933200-8937800	Enhancers	A549	lung
49	chr8:8933200-8938000	Weak transcription	Primary monocytes fromperipheralblood	blood
50	chr8:8933200-8938000	Weak transcription	Monocytes-CD14+_RO01746	blood

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