Variant report

Variant	rs28550585
Chromosome Location	chr8:130954434-130954435
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:130954161..130956644-chr8:130959605..130961969,2	MCF-7	breast:
2	chr8:130949993..130954520-chr8:130981777..130987768,8	K562	blood:

Variant related genes	Relation type
ENSG00000153310	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10087750	1.00[EUR][1000 genomes]
rs10090126	1.00[EUR][1000 genomes]
rs10091204	1.00[EUR][1000 genomes]
rs10091754	1.00[EUR][1000 genomes]
rs10093443	1.00[EUR][1000 genomes]
rs10095752	1.00[EUR][1000 genomes]
rs10097321	1.00[EUR][1000 genomes]
rs10098794	1.00[EUR][1000 genomes]
rs10101179	1.00[EUR][1000 genomes]
rs10102037	1.00[EUR][1000 genomes]
rs10108374	1.00[EUR][1000 genomes]
rs10283332	1.00[EUR][1000 genomes]
rs11984716	1.00[EUR][1000 genomes]
rs12334601	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16904151	1.00[EUR][1000 genomes]
rs1871943	1.00[EUR][1000 genomes]
rs28380012	1.00[EUR][1000 genomes]
rs28417973	1.00[EUR][1000 genomes]
rs28472437	1.00[EUR][1000 genomes]
rs28520393	1.00[EUR][1000 genomes]
rs28533697	1.00[EUR][1000 genomes]
rs28578248	1.00[EUR][1000 genomes]
rs28593681	1.00[EUR][1000 genomes]
rs28633939	1.00[EUR][1000 genomes]
rs28656330	1.00[EUR][1000 genomes]
rs28682337	1.00[EUR][1000 genomes]
rs28685780	1.00[EUR][1000 genomes]
rs28795370	1.00[EUR][1000 genomes]
rs55864361	1.00[EUR][1000 genomes]
rs56770303	1.00[EUR][1000 genomes]
rs58136260	1.00[EUR][1000 genomes]
rs59372581	1.00[EUR][1000 genomes]
rs59501802	1.00[EUR][1000 genomes]
rs59799475	1.00[EUR][1000 genomes]
rs60282920	1.00[EUR][1000 genomes]
rs60366798	1.00[EUR][1000 genomes]
rs60403203	1.00[EUR][1000 genomes]
rs61417675	1.00[EUR][1000 genomes]
rs6999729	1.00[EUR][1000 genomes]
rs6999887	1.00[EUR][1000 genomes]
rs7011549	1.00[EUR][1000 genomes]
rs7013939	1.00[EUR][1000 genomes]
rs73712950	1.00[EUR][1000 genomes]
rs73712955	1.00[EUR][1000 genomes]
rs73712957	1.00[EUR][1000 genomes]
rs73712989	1.00[EUR][1000 genomes]
rs7812685	1.00[EUR][1000 genomes]
rs7812863	1.00[EUR][1000 genomes]
rs7814585	1.00[EUR][1000 genomes]
rs7825122	1.00[EUR][1000 genomes]
rs7831443	1.00[EUR][1000 genomes]
rs9693205	1.00[EUR][1000 genomes]
rs9886600	1.00[EUR][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:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:130952600-130956000	Weak transcription	Spleen	Spleen
2	chr8:130952600-130957400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:130952600-130957800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr8:130952600-130958800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr8:130952600-130965600	Weak transcription	Aorta	Aorta
6	chr8:130952600-130965600	Weak transcription	Lung	lung
7	chr8:130952800-130954600	Enhancers	Primary neutrophils fromperipheralblood	blood
8	chr8:130952800-130956400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr8:130952800-130956600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr8:130952800-130957200	Weak transcription	HSMM	muscle
11	chr8:130952800-130957400	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr8:130952800-130958000	Weak transcription	Brain Cingulate Gyrus	brain
13	chr8:130952800-130958600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr8:130952800-130958600	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr8:130952800-130958600	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr8:130952800-130959000	Weak transcription	Small Intestine	intestine
17	chr8:130952800-130960200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr8:130952800-130960400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr8:130952800-130960400	Weak transcription	Esophagus	oesophagus
20	chr8:130952800-130965200	Weak transcription	Colonic Mucosa	Colon
21	chr8:130952800-130965400	Weak transcription	Gastric	stomach
22	chr8:130952800-130965400	Weak transcription	Pancreas	Pancrea
23	chr8:130952800-130965400	Weak transcription	Psoas Muscle	Psoas
24	chr8:130952800-130965400	Weak transcription	HSMMtube	muscle
25	chr8:130952800-130967800	Weak transcription	Right Ventricle	heart
26	chr8:130952800-130981400	Weak transcription	Left Ventricle	heart
27	chr8:130953000-130955400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr8:130953000-130956200	Weak transcription	Primary B cells from peripheral blood	blood
29	chr8:130953000-130956200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr8:130953000-130956800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr8:130953000-130956800	Weak transcription	Adipose Nuclei	Adipose
32	chr8:130953000-130958200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr8:130953000-130958400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr8:130953000-130958400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr8:130953000-130958600	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr8:130953000-130960000	Weak transcription	Stomach Smooth Muscle	stomach
37	chr8:130953000-130965000	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr8:130953000-130967400	Weak transcription	Fetal Stomach	stomach
39	chr8:130953000-130980000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr8:130953200-130955400	Weak transcription	Primary T cells from cord blood	blood
41	chr8:130953200-130955600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr8:130953200-130956200	Weak transcription	Primary T helper cells fromperipheralblood	blood
43	chr8:130953200-130956200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr8:130953200-130956400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr8:130953200-130957000	Weak transcription	Placenta Amnion	Placenta Amnion
46	chr8:130953200-130958600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr8:130953200-130958800	Weak transcription	Duodenum Mucosa	Duodenum
48	chr8:130953200-130960000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr8:130953200-130960600	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr8:130953200-130964800	Weak transcription	Brain Substantia Nigra	brain

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