Variant report

Variant	rs11984804
Chromosome Location	chr8:130901405-130901406
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:130838576..130840911-chr8:130898985..130901514,2	K562	blood:

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10956502	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs167239	0.81[ASN][1000 genomes]
rs16904166	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1979477	0.83[ASN][1000 genomes]
rs2046260	0.85[ASN][1000 genomes]
rs2054632	0.87[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs2086641	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs212992	0.83[ASN][1000 genomes]
rs2306528	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2449417	0.80[ASN][1000 genomes]
rs2663613	0.88[ASN][1000 genomes]
rs2663618	0.83[ASN][1000 genomes]
rs298602	0.87[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs298607	0.85[ASN][1000 genomes]
rs298609	0.85[ASN][1000 genomes]
rs298610	0.85[ASN][1000 genomes]
rs298611	0.85[ASN][1000 genomes]
rs298612	0.84[ASN][1000 genomes]
rs298613	0.86[ASN][1000 genomes]
rs298614	0.86[ASN][1000 genomes]
rs298615	0.87[ASN][1000 genomes]
rs298616	0.87[ASN][1000 genomes]
rs298617	0.87[ASN][1000 genomes]
rs298618	0.85[ASN][1000 genomes]
rs298619	0.81[ASN][1000 genomes]
rs298620	0.84[AFR][1000 genomes]
rs2989885	0.87[ASN][1000 genomes]
rs34983967	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs367117	0.87[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs383209	0.86[ASN][1000 genomes]
rs384752	0.86[ASN][1000 genomes]
rs385022	0.87[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs389604	0.80[ASN][1000 genomes]
rs401526	0.87[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs412941	0.80[ASN][1000 genomes]
rs438877	0.85[ASN][1000 genomes]
rs4395866	0.97[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59839253	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs710616	0.86[ASN][1000 genomes]
rs837065	0.81[ASN][1000 genomes]
rs837075	0.81[ASN][1000 genomes]
rs837080	0.83[ASN][1000 genomes]
rs837081	0.83[ASN][1000 genomes]
rs857233	0.85[ASN][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	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:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:130864400-130903600	Weak transcription	Colon Smooth Muscle	Colon
2	chr8:130865600-130907600	Weak transcription	Rectal Smooth Muscle	rectum
3	chr8:130885200-130912200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr8:130888800-130910600	Weak transcription	Aorta	Aorta
5	chr8:130896400-130902000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr8:130896400-130906600	Weak transcription	Fetal Muscle Leg	muscle
7	chr8:130897200-130902000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr8:130897400-130902400	Genic enhancers	Primary B cells from cord blood	blood
9	chr8:130898600-130901600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
10	chr8:130898600-130926200	Weak transcription	Brain Hippocampus Middle	brain
11	chr8:130898800-130901600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr8:130899000-130902200	Enhancers	Primary T helper cells PMA-I stimulated	--
13	chr8:130899000-130912000	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr8:130899400-130902200	Weak transcription	Adipose Nuclei	Adipose
15	chr8:130899400-130907800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr8:130899400-130925600	Weak transcription	Stomach Smooth Muscle	stomach
17	chr8:130899600-130902200	Genic enhancers	Primary T cells from cord blood	blood
18	chr8:130899600-130903200	Weak transcription	Brain Anterior Caudate	brain
19	chr8:130899600-130904200	Weak transcription	Brain Substantia Nigra	brain
20	chr8:130899600-130906600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr8:130899600-130906600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr8:130899600-130908000	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr8:130899600-130908600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr8:130899600-130908800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr8:130899600-130909600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr8:130899800-130901800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr8:130899800-130902200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
28	chr8:130899800-130902800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr8:130899800-130903200	Weak transcription	HSMM	muscle
30	chr8:130899800-130906400	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr8:130899800-130906800	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr8:130899800-130909200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr8:130899800-130913400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr8:130899800-130915800	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr8:130900000-130906600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr8:130900000-130907200	Weak transcription	Lung	lung
37	chr8:130900000-130910600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr8:130900000-130911800	Weak transcription	Dnd41	blood
39	chr8:130900000-130914800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr8:130900000-130922000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr8:130900000-130925200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr8:130900000-130926200	Weak transcription	Brain Angular Gyrus	brain
43	chr8:130900200-130902400	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
44	chr8:130900200-130902400	Strong transcription	A549	lung
45	chr8:130900200-130903200	Weak transcription	HSMMtube	muscle
46	chr8:130900200-130903400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr8:130900200-130903800	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr8:130900400-130903800	Weak transcription	Fetal Stomach	stomach
49	chr8:130900400-130906600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr8:130900400-130906800	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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