Variant report

Variant	rs73283377
Chromosome Location	chr8:103272889-103272890
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:103267398..103271386-chr8:103272103..103274903,3	K562	blood:
2	chr8:103270085..103274841-chr8:103276076..103281465,7	K562	blood:
3	chr8:103267107..103271106-chr8:103271292..103276366,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000104517	Chromatin interaction
ENSG00000272037	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs16869317	1.00[EUR][1000 genomes]
rs16869318	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16869320	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16869360	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16869384	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16869390	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs16869421	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28927984	1.00[EUR][1000 genomes]
rs58936362	1.00[EUR][1000 genomes]
rs60133998	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60370901	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6982960	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7002260	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73283367	1.00[EUR][1000 genomes]
rs73283374	1.00[EUR][1000 genomes]
rs73283386	1.00[EUR][1000 genomes]
rs73283395	1.00[EUR][1000 genomes]
rs73283398	1.00[EUR][1000 genomes]
rs73283402	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73285212	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73285216	1.00[EUR][1000 genomes]
rs73285234	1.00[EUR][1000 genomes]
rs73285253	1.00[EUR][1000 genomes]
rs73285256	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73285272	1.00[EUR][1000 genomes]
rs73285276	1.00[EUR][1000 genomes]
rs73285278	1.00[EUR][1000 genomes]
rs73285292	1.00[EUR][1000 genomes]
rs73285300	1.00[EUR][1000 genomes]
rs7813561	1.00[EUR][1000 genomes]
rs7819190	1.00[EUR][1000 genomes]
rs7844478	1.00[EUR][1000 genomes]
rs7845522	1.00[EUR][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	nsv1020359	chr8:103109921-103318415	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv1033829	chr8:103110057-103525696	Strong transcription Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv1021459	chr8:103163436-103401754	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	nsv539701	chr8:103163436-103401754	Strong transcription Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
5	nsv1025935	chr8:103199207-103468322	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
6	nsv1018990	chr8:103207922-103357742	Genic enhancers Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
7	nsv539702	chr8:103207922-103357742	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
8	nsv1028890	chr8:103207922-103401754	Weak transcription Genic enhancers Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
9	nsv891242	chr8:103210971-103282418	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
10	nsv891243	chr8:103219629-103292724	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103252200-103273600	Weak transcription	Esophagus	oesophagus
2	chr8:103252200-103273600	Weak transcription	Spleen	Spleen
3	chr8:103252200-103273800	Weak transcription	Lung	lung
4	chr8:103252200-103292800	Weak transcription	Gastric	stomach
5	chr8:103252200-103318800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr8:103252400-103273800	Weak transcription	Pancreas	Pancrea
7	chr8:103252400-103276000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr8:103252400-103280200	Weak transcription	Aorta	Aorta
9	chr8:103252400-103292400	Weak transcription	Psoas Muscle	Psoas
10	chr8:103252600-103276000	Weak transcription	Stomach Mucosa	stomach
11	chr8:103252600-103280000	Weak transcription	Fetal Brain Male	brain
12	chr8:103252800-103273600	Weak transcription	Fetal Intestine Small	intestine
13	chr8:103255200-103279800	Strong transcription	Primary B cells from cord blood	blood
14	chr8:103256000-103299000	Strong transcription	Primary B cells from peripheral blood	blood
15	chr8:103256000-103299000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr8:103256000-103299600	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr8:103256200-103285000	Strong transcription	Primary neutrophils fromperipheralblood	blood
18	chr8:103256200-103299600	Strong transcription	Primary monocytes fromperipheralblood	blood
19	chr8:103257400-103299400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
20	chr8:103262400-103299400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr8:103262600-103281600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr8:103262600-103288200	Strong transcription	GM12878-XiMat	blood
23	chr8:103262600-103299600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr8:103262600-103329800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr8:103262800-103285200	Strong transcription	NHDF-Ad	bronchial
26	chr8:103262800-103286800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
27	chr8:103262800-103296000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr8:103262800-103299600	Strong transcription	HSMM	muscle
29	chr8:103263000-103294000	Strong transcription	Skeletal Muscle Female	skeletal muscle
30	chr8:103263000-103299000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr8:103263000-103299000	Strong transcription	Liver	Liver
32	chr8:103263000-103299000	Strong transcription	Fetal Thymus	thymus
33	chr8:103263200-103284000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr8:103263200-103286800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr8:103263200-103292800	Strong transcription	Placenta	Placenta
36	chr8:103263200-103298800	Strong transcription	Duodenum Mucosa	Duodenum
37	chr8:103263400-103285000	Strong transcription	Adipose Nuclei	Adipose
38	chr8:103263400-103295600	Strong transcription	Rectal Mucosa Donor 29	rectum
39	chr8:103263400-103298200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr8:103263400-103299000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr8:103263400-103299000	Strong transcription	Dnd41	blood
42	chr8:103263400-103327800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr8:103263400-103327800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr8:103263800-103284600	Strong transcription	Duodenum Smooth Muscle	Duodenum
45	chr8:103263800-103285200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr8:103264000-103299000	Strong transcription	Primary T helper cells fromperipheralblood	blood
47	chr8:103264200-103299000	Strong transcription	Primary T cells fromperipheralblood	blood
48	chr8:103264400-103274800	Strong transcription	HUVEC	blood vessel
49	chr8:103264800-103273200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr8:103264800-103273600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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