Variant report

Variant	rs73312336
Chromosome Location	chr8:119110513-119110514
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:119108619..119110803-chr8:119124925..119127142,2	K562	blood:

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10088632	1.00[EUR][1000 genomes]
rs13265594	1.00[EUR][1000 genomes]
rs17475323	1.00[EUR][1000 genomes]
rs17475337	1.00[EUR][1000 genomes]
rs17475344	1.00[EUR][1000 genomes]
rs17475351	1.00[EUR][1000 genomes]
rs17475358	1.00[EUR][1000 genomes]
rs17477413	0.83[ASN][1000 genomes]
rs17477455	0.83[ASN][1000 genomes]
rs17477476	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17477497	0.83[ASN][1000 genomes]
rs17477525	0.83[ASN][1000 genomes]
rs17477580	0.83[ASN][1000 genomes]
rs17477622	0.83[ASN][1000 genomes]
rs17477650	0.83[ASN][1000 genomes]
rs17504170	1.00[EUR][1000 genomes]
rs17504205	1.00[EUR][1000 genomes]
rs17506336	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17506357	0.83[ASN][1000 genomes]
rs17506392	0.83[ASN][1000 genomes]
rs17506426	1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs17506489	0.83[ASN][1000 genomes]
rs17506545	0.83[ASN][1000 genomes]
rs2019967	1.00[EUR][1000 genomes]
rs28376539	1.00[EUR][1000 genomes]
rs28429320	1.00[EUR][1000 genomes]
rs28626687	1.00[EUR][1000 genomes]
rs3101578	1.00[EUR][1000 genomes]
rs3134313	1.00[EUR][1000 genomes]
rs4242577	1.00[EUR][1000 genomes]
rs4377987	1.00[EUR][1000 genomes]
rs59529135	1.00[EUR][1000 genomes]
rs60815148	1.00[EUR][1000 genomes]
rs6999867	1.00[EUR][1000 genomes]
rs7009198	1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs73312339	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73312370	0.83[ASN][1000 genomes]
rs7357537	1.00[EUR][1000 genomes]
rs73704827	1.00[EUR][1000 genomes]
rs73704828	1.00[EUR][1000 genomes]
rs73704829	1.00[EUR][1000 genomes]
rs73704830	1.00[EUR][1000 genomes]
rs73704831	1.00[EUR][1000 genomes]
rs7462118	1.00[EUR][1000 genomes]
rs7833960	1.00[EUR][1000 genomes]
rs9297572	1.00[EUR][1000 genomes]
rs9656804	1.00[EUR][1000 genomes]
rs9656924	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030459	chr8:118840179-119155835	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv612047	chr8:118939094-119468609	Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv1015380	chr8:118948652-119418389	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv539736	chr8:118948652-119418389	Flanking Active TSS Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	nsv831441	chr8:119055370-119262970	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
6	esv2752195	chr8:119058819-119139819	Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	nsv821660	chr8:119082062-119312183	Flanking Active TSS Enhancers Genic enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
8	nsv891412	chr8:119107051-119139385	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:119094200-119117000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr8:119097600-119113400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr8:119098800-119117800	Weak transcription	Brain Germinal Matrix	brain
4	chr8:119102000-119119600	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr8:119102200-119111800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr8:119102400-119111200	Weak transcription	Brain Angular Gyrus	brain
7	chr8:119102400-119112000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr8:119102400-119113000	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr8:119102400-119118200	Weak transcription	Fetal Brain Male	brain
10	chr8:119102600-119112000	Weak transcription	Primary B cells from cord blood	blood
11	chr8:119102600-119117000	Weak transcription	Rectal Smooth Muscle	rectum
12	chr8:119102600-119120000	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr8:119102800-119111400	Weak transcription	Placenta	Placenta
14	chr8:119102800-119111600	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr8:119102800-119117200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr8:119103000-119111400	Weak transcription	Primary hematopoietic stem cells	blood
17	chr8:119103200-119111400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr8:119103200-119111800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr8:119103400-119111200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr8:119103400-119111200	Weak transcription	GM12878-XiMat	blood
21	chr8:119103600-119111000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr8:119103600-119111000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr8:119103600-119111600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr8:119103800-119111400	Weak transcription	Primary T cells fromperipheralblood	blood
25	chr8:119105200-119112800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr8:119106400-119111400	Weak transcription	Psoas Muscle	Psoas
27	chr8:119107200-119111000	Weak transcription	HSMMtube	muscle
28	chr8:119107200-119111400	Weak transcription	Colon Smooth Muscle	Colon
29	chr8:119107200-119119400	Weak transcription	Fetal Kidney	kidney
30	chr8:119107400-119111400	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr8:119107400-119111400	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr8:119107400-119112200	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr8:119107400-119113200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr8:119108600-119111400	Strong transcription	Fetal Intestine Small	intestine
35	chr8:119108600-119114200	Genic enhancers	NHEK	skin
36	chr8:119108600-119114400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr8:119108800-119114200	Genic enhancers	Osteobl	bone
38	chr8:119109000-119111000	Strong transcription	Fetal Intestine Large	intestine
39	chr8:119109000-119111800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr8:119109000-119112400	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr8:119109000-119112600	Genic enhancers	HMEC	breast
42	chr8:119109000-119113800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr8:119109200-119110600	Strong transcription	Fetal Lung	lung
44	chr8:119109200-119111200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr8:119109400-119112800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr8:119109600-119110600	Strong transcription	Primary monocytes fromperipheralblood	blood
47	chr8:119109600-119110600	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
48	chr8:119109600-119111400	Weak transcription	Brain Substantia Nigra	brain
49	chr8:119109600-119114800	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
50	chr8:119109800-119110600	Strong transcription	H1 Cell Line	embryonic stem cell

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