Variant report

Variant	rs34115246
Chromosome Location	chr8:125503595-125503596
allele	C/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:10)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:125503260..125503799-chr8:125550821..125551599,2	MCF-7	breast:
2	chr8:125502813..125505069-chr8:126010295..126012992,2	MCF-7	breast:
3	chr8:125501973..125504585-chr8:125508196..125511474,3	MCF-7	breast:
4	chr8:125501162..125503878-chr8:125549908..125551585,2	K562	blood:
5	chr8:125476504..125477354-chr8:125503331..125504125,2	MCF-7	breast:
6	chr8:125476415..125477216-chr8:125503251..125504111,2	MCF-7	breast:
7	chr8:125503534..125506808-chr8:125536853..125540308,3	MCF-7	breast:
8	chr8:125501995..125503698-chr8:125571689..125573791,2	K562	blood:
9	chr8:125476415..125477216-chr8:125503251..125504111,3	MCF-7	breast:
10	chr8:125503266..125503856-chr8:125521814..125522592,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RNF139-1	chr8:125503303-125503884	ENSG00000253106.1

No data

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

Extended variants
information (count: 23 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1131024	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13250890	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13254054	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13263130	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13264071	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13269215	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13276295	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17298010	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34008273	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34681068	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34684627	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs34714561	0.82[EUR][1000 genomes]
rs35005670	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs35135081	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35309726	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35419095	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4358788	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4457314	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4535724	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4540394	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7010902	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7813473	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[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:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125488200-125515800	Weak transcription	Lung	lung
2	chr8:125488200-125550400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:125489000-125505800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr8:125489000-125519800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr8:125489000-125531200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr8:125489000-125541200	Weak transcription	Gastric	stomach
7	chr8:125489000-125543400	Weak transcription	Small Intestine	intestine
8	chr8:125493200-125539400	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr8:125496000-125512600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr8:125496600-125549600	Weak transcription	Rectal Smooth Muscle	rectum
11	chr8:125496800-125513200	Weak transcription	Brain Angular Gyrus	brain
12	chr8:125496800-125521200	Weak transcription	Fetal Heart	heart
13	chr8:125496800-125547400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr8:125497600-125505200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr8:125497800-125504000	Strong transcription	Primary B cells from cord blood	blood
16	chr8:125497800-125506200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr8:125498000-125503600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr8:125498000-125503800	Strong transcription	Primary monocytes fromperipheralblood	blood
19	chr8:125498000-125503800	Strong transcription	Monocytes-CD14+_RO01746	blood
20	chr8:125498000-125504000	Strong transcription	HUES6 Cell Line	embryonic stem cell
21	chr8:125498000-125504000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
22	chr8:125498000-125504000	Strong transcription	Fetal Thymus	thymus
23	chr8:125498000-125504200	Strong transcription	Rectal Mucosa Donor 29	rectum
24	chr8:125498000-125504400	Strong transcription	HUES48 Cell Line	embryonic stem cell
25	chr8:125498000-125504600	Strong transcription	Primary T cells from cord blood	blood
26	chr8:125498000-125504600	Strong transcription	Primary T cells fromperipheralblood	blood
27	chr8:125498000-125505000	Strong transcription	Primary T helper cells fromperipheralblood	blood
28	chr8:125498000-125505800	Strong transcription	Dnd41	blood
29	chr8:125498000-125506200	Strong transcription	Fetal Intestine Large	intestine
30	chr8:125498000-125506600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr8:125498000-125506800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr8:125498200-125503800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr8:125498200-125503800	Strong transcription	Placenta	Placenta
34	chr8:125498200-125504000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
35	chr8:125498200-125504200	Strong transcription	Osteobl	bone
36	chr8:125498200-125504600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr8:125498200-125504800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr8:125498200-125506000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr8:125498200-125506000	Strong transcription	Fetal Muscle Trunk	muscle
40	chr8:125498200-125507600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr8:125498200-125508000	Strong transcription	HUES64 Cell Line	embryonic stem cell
42	chr8:125498400-125506200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr8:125499000-125513200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr8:125499000-125537200	Weak transcription	Esophagus	oesophagus
45	chr8:125499200-125515800	Weak transcription	Right Ventricle	heart
46	chr8:125499600-125504000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr8:125499800-125506000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr8:125499800-125512600	Weak transcription	Aorta	Aorta
49	chr8:125499800-125515800	Weak transcription	Colon Smooth Muscle	Colon
50	chr8:125500000-125512600	Weak transcription	Sigmoid Colon	Sigmoid Colon

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