Variant report

Variant	rs113487030
Chromosome Location	chr8:103819420-103819421
allele	A/C
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:42)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:42 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:103817310..103819555-chr8:144690473..144693447,2	MCF-7	breast:
2	chr15:75746623..75747199-chr8:103819168..103820055,2	Hela-S3	cervix:
3	chr19:8385776..8387962-chr8:103817947..103819696,2	MCF-7	breast:
4	chr8:103817518..103820621-chr8:103884137..103887437,3	MCF-7	breast:
5	chr8:103819401..103822063-chr8:103831348..103833645,2	MCF-7	breast:
6	chr8:103665037..103666754-chr8:103819414..103820860,9	MCF-7	breast:
7	chr8:103666578..103667295-chr8:103819238..103820068,2	Hela-S3	cervix:
8	chr8:103817439..103824960-chr8:103872390..103877790,15	MCF-7	breast:
9	chr22:26878870..26880742-chr8:103818199..103820468,2	MCF-7	breast:
10	chr8:103818013..103820619-chr8:103873753..103877719,3	K562	blood:
11	chr8:103667505..103668484-chr8:103818650..103819608,4	MCF-7	breast:
12	chr8:103668110..103668612-chr8:103819388..103819961,2	MCF-7	breast:
13	chr8:103267417..103268998-chr8:103817417..103819784,2	MCF-7	breast:
14	chr8:103701066..103702596-chr8:103819068..103820617,2	K562	blood:
15	chr8:103666370..103667135-chr8:103818610..103819735,3	MCF-7	breast:
16	chr8:103657627..103672045-chr8:103815832..103826635,94	K562	blood:
17	chr8:103816803..103818468-chr8:103818908..103820464,2	K562	blood:
18	chr11:61734640..61735364-chr8:103819257..103820017,2	Hela-S3	cervix:
19	chr8:103740249..103747213-chr8:103818698..103822838,8	MCF-7	breast:
20	chr8:101732486..101734553-chr8:103818799..103820944,2	K562	blood:
21	chr8:103659827..103671648-chr8:103816894..103829599,93	K562	blood:
22	chr17:56707890..56710691-chr8:103818055..103819767,2	MCF-7	breast:
23	chr8:103420136..103427906-chr8:103815410..103825210,22	MCF-7	breast:
24	chr8:103644446..103678119-chr8:103815618..103829807,419	MCF-7	breast:
25	chr17:57182576..57184136-chr8:103818187..103820992,2	MCF-7	breast:
26	chr8:103250357..103253420-chr8:103818570..103821747,5	MCF-7	breast:
27	chr8:103667409..103668879-chr8:103818175..103819938,6	MCF-7	breast:
28	chr8:103816389..103823057-chr8:103875264..103878654,9	K562	blood:
29	chr8:103818457..103821260-chr9:4985022..4986557,2	MCF-7	breast:
30	chr8:103817889..103824823-chr8:103872385..103879164,18	MCF-7	breast:
31	chr8:103801046..103802242-chr8:103819152..103820867,8	MCF-7	breast:
32	chr1:37938067..37940901-chr8:103817766..103821632,3	MCF-7	breast:
33	chr8:103620698..103622905-chr8:103819199..103821152,2	K562	blood:
34	chr8:103251230..103254364-chr8:103817398..103821115,5	K562	blood:
35	chr8:103699541..103701462-chr8:103819381..103821442,2	MCF-7	breast:
36	chr8:103653489..103674518-chr8:103809987..103832119,275	MCF-7	breast:
37	chr8:103600160..103603020-chr8:103819170..103821439,2	K562	blood:
38	chr17:39680970..39683210-chr8:103819163..103820752,2	MCF-7	breast:
39	chr8:103623532..103635312-chr8:103817499..103824242,24	MCF-7	breast:
40	chr8:103818007..103820586-chr9:131474498..131476310,2	MCF-7	breast:
41	chr8:102503544..102506939-chr8:103817000..103821587,6	MCF-7	breast:
42	chr12:65218457..65219292-chr8:103819159..103819916,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000155090	Chromatin interaction
ENSG00000096968	Chromatin interaction
ENSG00000048392	Chromatin interaction
ENSG00000163874	Chromatin interaction
ENSG00000108395	Chromatin interaction
ENSG00000254024	Chromatin interaction
ENSG00000100099	Chromatin interaction
ENSG00000272037	Chromatin interaction
ENSG00000253669	Chromatin interaction
ENSG00000160447	Chromatin interaction
ENSG00000070756	Chromatin interaction
ENSG00000104517	Chromatin interaction
ENSG00000083307	Chromatin interaction
ENSG00000171345	Chromatin interaction
ENSG00000104524	Chromatin interaction
ENSG00000266799	Chromatin interaction
ENSG00000167996	Chromatin interaction
ENSG00000233621	Chromatin interaction
ENSG00000253382	Chromatin interaction
ENSG00000267855	Chromatin interaction
ENSG00000233927	Chromatin interaction
ENSG00000100104	Chromatin interaction
ENSG00000212195	Chromatin interaction
ENSG00000167774	Chromatin interaction
ENSG00000246263	Chromatin interaction
ENSG00000224738	Chromatin interaction
ENSG00000155096	Chromatin interaction
ENSG00000250684	Chromatin interaction
ENSG00000253320	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33118	chr8:103358567-104068172	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
2	esv1814245	chr8:103735804-103824566	Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
3	nsv1021898	chr8:103767324-103922482	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
4	nsv465751	chr8:103817106-103894326	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
5	nsv611822	chr8:103817106-103894326	Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
6	esv3387271	chr8:103818001-103820749	Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	34 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	chr8:103816800-103822400	Enhancers	Spleen	Spleen
2	chr8:103817200-103822800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr8:103818200-103819800	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr8:103818200-103820200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
5	chr8:103818200-103821200	Enhancers	Fetal Brain Male	brain
6	chr8:103818400-103819600	Active TSS	Colon Smooth Muscle	Colon
7	chr8:103818400-103819600	Weak transcription	Gastric	stomach
8	chr8:103818400-103819600	Active TSS	Psoas Muscle	Psoas
9	chr8:103818600-103819600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
10	chr8:103818600-103819600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
11	chr8:103818600-103819600	Active TSS	Breast Myoepithelial Primary Cells	Breast
12	chr8:103818600-103819600	Active TSS	Primary T killer memory cells from peripheral blood	blood
13	chr8:103818600-103819600	Active TSS	Aorta	Aorta
14	chr8:103818600-103819600	Active TSS	Brain Angular Gyrus	brain
15	chr8:103818600-103819600	Active TSS	Brain Anterior Caudate	brain
16	chr8:103818600-103819600	Active TSS	Brain Cingulate Gyrus	brain
17	chr8:103818600-103819600	Active TSS	Brain Substantia Nigra	brain
18	chr8:103818600-103819600	Active TSS	Duodenum Smooth Muscle	Duodenum
19	chr8:103818600-103819600	Active TSS	Esophagus	oesophagus
20	chr8:103818600-103819600	Active TSS	Ovary	ovary
21	chr8:103818600-103822200	Enhancers	HUVEC	blood vessel
22	chr8:103818800-103819600	Active TSS	Brain Hippocampus Middle	brain
23	chr8:103818800-103819800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr8:103819200-103819600	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr8:103819200-103819600	Flanking Active TSS	Primary hematopoietic stem cells	blood
26	chr8:103819200-103819600	Active TSS	Fetal Lung	lung
27	chr8:103819200-103819800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr8:103819200-103819800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr8:103819200-103820000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr8:103819200-103820000	Flanking Active TSS	Primary B cells from cord blood	blood
31	chr8:103819200-103820000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
32	chr8:103819200-103820000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr8:103819200-103820000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
34	chr8:103819200-103820200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
35	chr8:103819200-103820200	Flanking Active TSS	Dnd41	blood
36	chr8:103819200-103820200	Flanking Active TSS	HMEC	breast
37	chr8:103819200-103820400	Flanking Active TSS	Colonic Mucosa	Colon
38	chr8:103819200-103820400	Flanking Active TSS	NH-A	brain
39	chr8:103819200-103820600	Flanking Active TSS	Osteobl	bone
40	chr8:103819200-103820800	Flanking Active TSS	Stomach Smooth Muscle	stomach
41	chr8:103819200-103821200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr8:103819200-103821200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr8:103819200-103821400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
44	chr8:103819200-103821600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
45	chr8:103819200-103821800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
46	chr8:103819200-103821800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr8:103819200-103821800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
48	chr8:103819200-103822800	Enhancers	Placenta Amnion	Placenta Amnion
49	chr8:103819400-103819600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr8:103819400-103819600	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell

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