Variant report

Variant	rs10195
Chromosome Location	chr8:125562029-125562030
allele	A/C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:125557600..125560665-chr8:125561474..125566163,6	MCF-7	breast:
2	chr8:125560928..125566588-chr8:125566852..125577107,17	MCF-7	breast:
3	chr19:39969776..39971710-chr8:125561754..125564240,2	MCF-7	breast:
4	chr8:125561947..125564833-chr8:126009022..126011860,2	MCF-7	breast:
5	chr8:125550551..125551259-chr8:125561525..125562151,2	MCF-7	breast:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RNF139-2	chr8:125562015-125562074	NONHSAT128595

No data

Variant related genes	Relation type
ENSG00000147684	Chromatin interaction
ENSG00000170873	Chromatin interaction
ENSG00000147687	Chromatin interaction
ENSG00000253513	Chromatin interaction
ENSG00000105197	Chromatin interaction
ENSG00000104549	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10956186	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13253319	0.86[ASN][1000 genomes]
rs16899643	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16899656	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16899660	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3812470	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3812473	0.87[EUR][1000 genomes]
rs3829033	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3829037	0.99[ASN][1000 genomes]
rs4330675	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4527852	0.89[EUR][1000 genomes]
rs4613980	0.87[EUR][1000 genomes]
rs4621790	0.87[EUR][1000 genomes]
rs57929284	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6981043	0.87[EUR][1000 genomes]
rs6989097	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6997089	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs71516748	0.86[ASN][1000 genomes]
rs72713019	0.81[EUR][1000 genomes]
rs72713032	0.89[EUR][1000 genomes]
rs72713042	0.89[EUR][1000 genomes]
rs72713045	0.89[EUR][1000 genomes]
rs72713053	0.89[EUR][1000 genomes]
rs72713055	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72713071	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72713073	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72713075	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72713077	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72713084	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72713096	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72713098	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72714708	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73704274	0.89[EUR][1000 genomes]
rs9643197	0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531508	chr8:125390194-125587953	Flanking Active TSS Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	84 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125552200-125565200	Weak transcription	Small Intestine	intestine
2	chr8:125552200-125565800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr8:125552200-125568600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr8:125553400-125568000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr8:125553400-125568200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr8:125553400-125575200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
7	chr8:125553400-125575200	Strong transcription	Fetal Muscle Leg	muscle
8	chr8:125553600-125566400	Strong transcription	A549	lung
9	chr8:125553600-125566800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
10	chr8:125553800-125575400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr8:125553800-125581200	Strong transcription	Fetal Brain Female	brain
12	chr8:125554000-125572400	Strong transcription	Thymus	Thymus
13	chr8:125554000-125574000	Strong transcription	Cortex derived primary cultured neurospheres	brain
14	chr8:125554200-125566800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr8:125554200-125568600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr8:125554200-125570000	Strong transcription	Fetal Thymus	thymus
17	chr8:125554200-125576200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr8:125554400-125567400	Strong transcription	Colon Smooth Muscle	Colon
19	chr8:125554400-125568200	Strong transcription	Duodenum Mucosa	Duodenum
20	chr8:125554400-125568400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr8:125554400-125569000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr8:125554400-125574200	Strong transcription	Fetal Muscle Trunk	muscle
23	chr8:125554400-125575400	Strong transcription	Primary B cells from cord blood	blood
24	chr8:125554400-125576200	Strong transcription	Fetal Intestine Large	intestine
25	chr8:125554600-125562200	Strong transcription	Brain Germinal Matrix	brain
26	chr8:125554600-125562400	Strong transcription	H9 Cell Line	embryonic stem cell
27	chr8:125554600-125562600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr8:125554600-125565400	Strong transcription	NH-A	brain
29	chr8:125554600-125566400	Strong transcription	HUES48 Cell Line	embryonic stem cell
30	chr8:125554600-125566400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
31	chr8:125554600-125566600	Strong transcription	HUES6 Cell Line	embryonic stem cell
32	chr8:125554600-125566600	Strong transcription	HUES64 Cell Line	embryonic stem cell
33	chr8:125554600-125568000	Strong transcription	Rectal Smooth Muscle	rectum
34	chr8:125554600-125574000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr8:125554600-125575000	Strong transcription	Primary B cells from peripheral blood	blood
36	chr8:125554600-125575800	Strong transcription	Stomach Smooth Muscle	stomach
37	chr8:125554800-125562400	Strong transcription	Brain Hippocampus Middle	brain
38	chr8:125554800-125562600	Strong transcription	Brain Inferior Temporal Lobe	brain
39	chr8:125554800-125564400	Strong transcription	HSMMtube	muscle
40	chr8:125554800-125564800	Strong transcription	Hela-S3	cervix
41	chr8:125554800-125566800	Strong transcription	HSMM	muscle
42	chr8:125554800-125569200	Strong transcription	Rectal Mucosa Donor 31	rectum
43	chr8:125555000-125566600	Strong transcription	NHLF	lung
44	chr8:125555000-125568200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr8:125555200-125566400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr8:125555200-125566400	Strong transcription	Muscle Satellite Cultured Cells	--
47	chr8:125555200-125566600	Strong transcription	Fetal Kidney	kidney
48	chr8:125555200-125569000	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr8:125555200-125574000	Strong transcription	Placenta	Placenta
50	chr8:125555200-125575000	Strong transcription	Rectal Mucosa Donor 29	rectum

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