Variant report

Variant	rs17506336
Chromosome Location	chr8:119109828-119109829
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	chr8:119108619..119110803-chr8:119124925..119127142,2	K562	blood:

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

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	1.00[CHB][hapmap];0.89[YRI][hapmap];1.00[ASN][1000 genomes]
rs17477455	1.00[CHB][hapmap];0.89[YRI][hapmap];1.00[ASN][1000 genomes]
rs17477476	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17477497	1.00[CHB][hapmap];0.89[YRI][hapmap];1.00[ASN][1000 genomes]
rs17477525	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17477580	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17477622	1.00[ASN][1000 genomes]
rs17477650	1.00[ASN][1000 genomes]
rs17504170	1.00[EUR][1000 genomes]
rs17504205	1.00[EUR][1000 genomes]
rs17506357	1.00[CHB][hapmap];0.89[YRI][hapmap];1.00[ASN][1000 genomes]
rs17506392	1.00[CHB][hapmap];0.89[YRI][hapmap];1.00[ASN][1000 genomes]
rs17506426	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17506461	0.89[YRI][hapmap]
rs17506489	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17506545	1.00[CHB][hapmap];1.00[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[CHB][hapmap];1.00[ASN][1000 genomes]
rs73312336	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73312339	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73312370	1.00[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:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:119092600-119110200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr8:119094200-119117000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr8:119094400-119110200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr8:119097600-119113400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr8:119098800-119117800	Weak transcription	Brain Germinal Matrix	brain
6	chr8:119100400-119110000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr8:119101200-119110000	Weak transcription	Fetal Brain Female	brain
8	chr8:119102000-119119600	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr8:119102200-119111800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr8:119102400-119110000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr8:119102400-119111200	Weak transcription	Brain Angular Gyrus	brain
12	chr8:119102400-119112000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr8:119102400-119113000	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr8:119102400-119118200	Weak transcription	Fetal Brain Male	brain
15	chr8:119102600-119110200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr8:119102600-119110200	Weak transcription	Colonic Mucosa	Colon
17	chr8:119102600-119112000	Weak transcription	Primary B cells from cord blood	blood
18	chr8:119102600-119117000	Weak transcription	Rectal Smooth Muscle	rectum
19	chr8:119102600-119120000	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr8:119102800-119110200	Weak transcription	Gastric	stomach
21	chr8:119102800-119111400	Weak transcription	Placenta	Placenta
22	chr8:119102800-119111600	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr8:119102800-119117200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr8:119103000-119111400	Weak transcription	Primary hematopoietic stem cells	blood
25	chr8:119103200-119111400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr8:119103200-119111800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr8:119103400-119110000	Weak transcription	Spleen	Spleen
28	chr8:119103400-119111200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr8:119103400-119111200	Weak transcription	GM12878-XiMat	blood
30	chr8:119103600-119110000	Weak transcription	Primary T cells from cord blood	blood
31	chr8:119103600-119111000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr8:119103600-119111000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr8:119103600-119111600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr8:119103800-119111400	Weak transcription	Primary T cells fromperipheralblood	blood
35	chr8:119104800-119110200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr8:119105200-119112800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr8:119106400-119111400	Weak transcription	Psoas Muscle	Psoas
38	chr8:119107000-119110000	Weak transcription	Stomach Smooth Muscle	stomach
39	chr8:119107200-119110400	Weak transcription	Small Intestine	intestine
40	chr8:119107200-119111000	Weak transcription	HSMMtube	muscle
41	chr8:119107200-119111400	Weak transcription	Colon Smooth Muscle	Colon
42	chr8:119107200-119119400	Weak transcription	Fetal Kidney	kidney
43	chr8:119107400-119110200	Weak transcription	Ovary	ovary
44	chr8:119107400-119111400	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr8:119107400-119111400	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr8:119107400-119112200	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr8:119107400-119113200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr8:119107600-119110200	Weak transcription	Fetal Heart	heart
49	chr8:119108200-119110000	Weak transcription	Stomach Mucosa	stomach
50	chr8:119108400-119110200	Weak transcription	Sigmoid Colon	Sigmoid Colon

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