Variant report

Variant	rs7825122
Chromosome Location	chr8:130897694-130897695
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	chr8:130896320..130899230-chr8:130903972..130906080,2	MCF-7	breast:

Extended variants
information (count: 79 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs10087750	1.00[EUR][1000 genomes]
rs10088317	1.00[ASN][1000 genomes]
rs10090126	1.00[EUR][1000 genomes]
rs10091204	1.00[EUR][1000 genomes]
rs10091754	1.00[EUR][1000 genomes]
rs10092658	1.00[ASN][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]
rs10111220	1.00[ASN][1000 genomes]
rs10112738	1.00[ASN][1000 genomes]
rs10283332	1.00[EUR][1000 genomes]
rs10481174	1.00[ASN][1000 genomes]
rs11984716	1.00[EUR][1000 genomes]
rs12334601	1.00[EUR][1000 genomes]
rs16904147	1.00[EUR][1000 genomes]
rs16904151	1.00[EUR][1000 genomes]
rs16904182	1.00[ASN][1000 genomes]
rs17194407	1.00[ASN][1000 genomes]
rs17194571	1.00[ASN][1000 genomes]
rs17194770	1.00[ASN][1000 genomes]
rs17279655	1.00[ASN][1000 genomes]
rs1871943	1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28380012	1.00[EUR][1000 genomes]
rs28411256	1.00[ASN][1000 genomes]
rs28417973	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28472437	1.00[EUR][1000 genomes]
rs28520393	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28533697	1.00[EUR][1000 genomes]
rs28550585	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]
rs28682439	1.00[ASN][1000 genomes]
rs28685780	1.00[EUR][1000 genomes]
rs28795370	1.00[EUR][1000 genomes]
rs55662234	1.00[EUR][1000 genomes]
rs55755123	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]
rs60229064	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	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6999887	1.00[EUR][1000 genomes]
rs7011549	1.00[EUR][1000 genomes]
rs7013939	1.00[EUR][1000 genomes]
rs72718397	1.00[ASN][1000 genomes]
rs72718400	1.00[ASN][1000 genomes]
rs72720304	1.00[ASN][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[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7812863	1.00[EUR][1000 genomes]
rs7814585	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7817091	1.00[ASN][1000 genomes]
rs7831443	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7837729	1.00[ASN][1000 genomes]
rs9693205	1.00[EUR][1000 genomes]
rs9886600	0.85[YRI][hapmap];0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];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:114 , 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	chr8:130865400-130899200	Weak transcription	Brain Cingulate Gyrus	brain
4	chr8:130865600-130907600	Weak transcription	Rectal Smooth Muscle	rectum
5	chr8:130874000-130899000	Weak transcription	Stomach Smooth Muscle	stomach
6	chr8:130875800-130899400	Weak transcription	Fetal Intestine Large	intestine
7	chr8:130877200-130898800	Weak transcription	Lung	lung
8	chr8:130882800-130898800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr8:130883000-130897800	Weak transcription	Esophagus	oesophagus
10	chr8:130883000-130897800	Weak transcription	Spleen	Spleen
11	chr8:130883200-130899000	Weak transcription	Placenta	Placenta
12	chr8:130883200-130899200	Weak transcription	Fetal Muscle Trunk	muscle
13	chr8:130883400-130897800	Weak transcription	Dnd41	blood
14	chr8:130883400-130899400	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr8:130883400-130900400	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr8:130883800-130898800	Weak transcription	Adipose Nuclei	Adipose
17	chr8:130885200-130900200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr8:130885200-130912200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr8:130887400-130897800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr8:130887600-130898400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr8:130887800-130898200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr8:130888600-130899400	Weak transcription	Fetal Stomach	stomach
23	chr8:130888800-130910600	Weak transcription	Aorta	Aorta
24	chr8:130889000-130898200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr8:130891000-130898200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr8:130893600-130899200	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr8:130893800-130898800	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr8:130893800-130899800	Enhancers	Hela-S3	cervix
29	chr8:130894400-130899000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr8:130894400-130901000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr8:130894600-130899800	Enhancers	HSMM	muscle
32	chr8:130894600-130900000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr8:130894600-130901000	Enhancers	HUVEC	blood vessel
34	chr8:130894800-130901000	Enhancers	HMEC	breast
35	chr8:130895000-130898200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr8:130895000-130900200	Enhancers	HSMMtube	muscle
37	chr8:130895200-130897800	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr8:130895200-130898200	Weak transcription	Primary monocytes fromperipheralblood	blood
39	chr8:130895200-130901000	Enhancers	Breast Myoepithelial Primary Cells	Breast
40	chr8:130895400-130897800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr8:130895600-130900800	Enhancers	Fetal Heart	heart
42	chr8:130895800-130898000	Enhancers	Cortex derived primary cultured neurospheres	brain
43	chr8:130895800-130899400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
44	chr8:130895800-130899600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr8:130895800-130899600	Enhancers	Osteobl	bone
46	chr8:130895800-130900800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr8:130896000-130899400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr8:130896200-130897800	Weak transcription	Primary B cells from peripheral blood	blood
49	chr8:130896400-130897800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr8:130896400-130897800	Weak transcription	Pancreas	Pancrea

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