Variant report

Variant	rs298608
Chromosome Location	chr8:130896441-130896442
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:130889604..130891485-chr8:130894789..130897188,2	K562	blood:
2	chr8:130896320..130899230-chr8:130903972..130906080,2	MCF-7	breast:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10956493	1.00[JPT][hapmap]
rs1600932	1.00[JPT][hapmap]
rs1600933	1.00[JPT][hapmap]
rs1600934	1.00[JPT][hapmap]
rs17190932	1.00[JPT][hapmap]
rs177113	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs1842793	1.00[JPT][hapmap]
rs1967019	1.00[JPT][hapmap]
rs2449414	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2624809	0.95[CEU][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2624810	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2624813	1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2777699	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs298621	1.00[JPT][hapmap];0.85[YRI][hapmap]
rs298622	1.00[JPT][hapmap]
rs372984	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs439184	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs448220	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs56665652	0.88[AFR][1000 genomes]
rs57428409	0.84[AFR][1000 genomes]
rs837083	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs967974	1.00[JPT][hapmap]

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	nsv1018045	chr8:130863644-131122644	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv612231	chr8:130868212-131132592	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv524349	chr8:130868363-131132592	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv1021229	chr8:130887132-131057897	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
5	nsv1017292	chr8:130887132-131107258	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 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	chr8:130864400-130903600	Weak transcription	Colon Smooth Muscle	Colon
2	chr8:130864800-130898200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr8:130865000-130897400	Weak transcription	Psoas Muscle	Psoas
4	chr8:130865200-130897600	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr8:130865400-130899200	Weak transcription	Brain Cingulate Gyrus	brain
6	chr8:130865600-130907600	Weak transcription	Rectal Smooth Muscle	rectum
7	chr8:130869800-130897600	Weak transcription	Brain Angular Gyrus	brain
8	chr8:130874000-130899000	Weak transcription	Stomach Smooth Muscle	stomach
9	chr8:130874600-130897600	Weak transcription	Brain Hippocampus Middle	brain
10	chr8:130875200-130897400	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr8:130875800-130899400	Weak transcription	Fetal Intestine Large	intestine
12	chr8:130877200-130897400	Weak transcription	Fetal Intestine Small	intestine
13	chr8:130877200-130898800	Weak transcription	Lung	lung
14	chr8:130882800-130897600	Weak transcription	Right Ventricle	heart
15	chr8:130882800-130898800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr8:130883000-130897400	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr8:130883000-130897400	Weak transcription	Gastric	stomach
18	chr8:130883000-130897400	Weak transcription	Thymus	Thymus
19	chr8:130883000-130897800	Weak transcription	Esophagus	oesophagus
20	chr8:130883000-130897800	Weak transcription	Spleen	Spleen
21	chr8:130883200-130899000	Weak transcription	Placenta	Placenta
22	chr8:130883200-130899200	Weak transcription	Fetal Muscle Trunk	muscle
23	chr8:130883400-130897400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr8:130883400-130897400	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr8:130883400-130897800	Weak transcription	Dnd41	blood
26	chr8:130883400-130899400	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr8:130883400-130900400	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr8:130883600-130897200	Weak transcription	Duodenum Mucosa	Duodenum
29	chr8:130883800-130898800	Weak transcription	Adipose Nuclei	Adipose
30	chr8:130885200-130897400	Weak transcription	GM12878-XiMat	blood
31	chr8:130885200-130900200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr8:130885200-130912200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr8:130887400-130897800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr8:130887600-130898400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr8:130887800-130897000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr8:130887800-130897600	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr8:130887800-130897600	Weak transcription	Primary hematopoietic stem cells	blood
38	chr8:130887800-130897600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr8:130887800-130898200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr8:130888600-130897000	Weak transcription	Primary T cells fromperipheralblood	blood
41	chr8:130888600-130899400	Weak transcription	Fetal Stomach	stomach
42	chr8:130888800-130897000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr8:130888800-130910600	Weak transcription	Aorta	Aorta
44	chr8:130889000-130897400	Weak transcription	Small Intestine	intestine
45	chr8:130889000-130898200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr8:130891000-130898200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr8:130891800-130897000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
48	chr8:130891800-130897200	Weak transcription	Stomach Mucosa	stomach
49	chr8:130892200-130897000	Weak transcription	Primary T helper cells fromperipheralblood	blood
50	chr8:130892200-130897200	Weak transcription	Primary T helper cells PMA-I stimulated	--

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