Variant report

Variant	rs572714329
Chromosome Location	chr8:103822285-103822286
allele	A/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:44)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:44 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:103674710..103676295-chr8:103820852..103822638,2	MCF-7	breast:
2	chr8:103681131..103683313-chr8:103821848..103824380,2	MCF-7	breast:
3	chr8:103596405..103599934-chr8:103821942..103825203,3	MCF-7	breast:
4	chr8:103592013..103594944-chr8:103820236..103822716,2	MCF-7	breast:
5	chr8:103241583..103244347-chr8:103821474..103823149,2	K562	blood:
6	chr16:78495514..78497334-chr8:103819724..103822286,2	MCF-7	breast:
7	chr8:103758707..103761141-chr8:103820912..103822776,2	MCF-7	breast:
8	chr8:103817439..103824960-chr8:103872390..103877790,15	MCF-7	breast:
9	chr14:73525108..73526850-chr8:103822146..103823789,2	MCF-7	breast:
10	chr8:103638288..103640009-chr8:103821096..103823943,2	MCF-7	breast:
11	chr8:103672018..103673821-chr8:103819669..103822518,2	K562	blood:
12	chr2:208036628..208038227-chr8:103821517..103823271,2	MCF-7	breast:
13	chr8:103663361..103664632-chr8:103822267..103823755,10	MCF-7	breast:
14	chr8:103421399..103423830-chr8:103819502..103822467,3	K562	blood:
15	chr8:103728869..103730949-chr8:103820340..103823063,2	MCF-7	breast:
16	chr8:103657627..103672045-chr8:103815832..103826635,94	K562	blood:
17	chr8:103306340..103308594-chr8:103820369..103822986,2	MCF-7	breast:
18	chr8:103446967..103449088-chr8:103820705..103822908,2	MCF-7	breast:
19	chr8:103740249..103747213-chr8:103818698..103822838,8	MCF-7	breast:
20	chr8:103696488..103698955-chr8:103820136..103822762,2	MCF-7	breast:
21	chr8:103659827..103671648-chr8:103816894..103829599,93	K562	blood:
22	chr8:103420136..103427906-chr8:103815410..103825210,22	MCF-7	breast:
23	chr8:103644446..103678119-chr8:103815618..103829807,419	MCF-7	breast:
24	chr8:103441212..103444184-chr8:103820683..103822944,2	MCF-7	breast:
25	chr8:103643403..103646605-chr8:103821191..103823533,3	MCF-7	breast:
26	chr8:103713778..103716086-chr8:103819862..103822357,3	MCF-7	breast:
27	chr8:103672172..103673821-chr8:103821018..103822916,2	K562	blood:
28	chr8:103816389..103823057-chr8:103875264..103878654,9	K562	blood:
29	chr8:103817889..103824823-chr8:103872385..103879164,18	MCF-7	breast:
30	chr8:103768653..103771082-chr8:103821061..103822803,2	K562	blood:
31	chr8:103248364..103250740-chr8:103821721..103824052,2	MCF-7	breast:
32	chr8:103520610..103522494-chr8:103820924..103823364,2	MCF-7	breast:
33	chr8:103626178..103629397-chr8:103820874..103826100,7	MCF-7	breast:
34	chr8:103740987..103747065-chr8:103820578..103824576,6	K562	blood:
35	chr8:103601837..103604958-chr8:103822153..103824319,4	K562	blood:
36	chr8:103692803..103694427-chr8:103820243..103822323,2	MCF-7	breast:
37	chr8:103634893..103636918-chr8:103821409..103822917,2	MCF-7	breast:
38	chr8:103703111..103704923-chr8:103821705..103823868,2	K562	blood:
39	chr8:103801276..103802081-chr8:103821575..103822409,2	MCF-7	breast:
40	chr8:103653489..103674518-chr8:103809987..103832119,275	MCF-7	breast:
41	chr8:103666345..103667557-chr8:103822272..103823530,3	MCF-7	breast:
42	chr8:103739412..103741779-chr8:103821663..103824081,2	MCF-7	breast:
43	chr8:103623532..103635312-chr8:103817499..103824242,24	MCF-7	breast:
44	chr8:103705965..103707674-chr8:103821217..103823842,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000104517	Chromatin interaction
ENSG00000253320	Chromatin interaction
ENSG00000266799	Chromatin interaction
ENSG00000119707	Chromatin interaction
ENSG00000253382	Chromatin interaction
ENSG00000155090	Chromatin interaction
ENSG00000155096	Chromatin interaction
ENSG00000258813	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	esv3402705	chr8:103821801-103824349	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	12 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	chr8:103816800-103822400	Enhancers	Spleen	Spleen
2	chr8:103817200-103822800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr8:103819200-103822800	Enhancers	Placenta Amnion	Placenta Amnion
4	chr8:103819400-103822600	Flanking Active TSS	A549	lung
5	chr8:103819400-103822600	Flanking Active TSS	Hela-S3	cervix
6	chr8:103819400-103822800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
7	chr8:103819600-103822400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr8:103819600-103822400	Enhancers	Left Ventricle	heart
9	chr8:103819600-103822600	Weak transcription	Ovary	ovary
10	chr8:103819800-103822400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr8:103819800-103822400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr8:103819800-103822400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr8:103819800-103822400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
14	chr8:103819800-103822400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
15	chr8:103819800-103822400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr8:103819800-103822400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr8:103819800-103822400	Enhancers	Fetal Stomach	stomach
18	chr8:103819800-103822400	Enhancers	Fetal Thymus	thymus
19	chr8:103819800-103822400	Enhancers	Pancreas	Pancrea
20	chr8:103819800-103822400	Enhancers	Right Atrium	heart
21	chr8:103819800-103823000	Enhancers	Fetal Heart	heart
22	chr8:103819800-103823400	Enhancers	Stomach Mucosa	stomach
23	chr8:103819800-103823800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
24	chr8:103820000-103822400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr8:103820000-103822400	Enhancers	Primary monocytes fromperipheralblood	blood
26	chr8:103820000-103822400	Enhancers	Primary B cells from peripheral blood	blood
27	chr8:103820000-103822400	Enhancers	Primary T cells from cord blood	blood
28	chr8:103820000-103822400	Enhancers	Primary T cells fromperipheralblood	blood
29	chr8:103820000-103822400	Enhancers	Primary T helper naive cells from peripheral blood	blood
30	chr8:103820000-103822400	Enhancers	Liver	Liver
31	chr8:103820000-103822400	Enhancers	Fetal Muscle Trunk	muscle
32	chr8:103820200-103822400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr8:103820200-103822400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr8:103820200-103822400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
35	chr8:103820200-103822400	Enhancers	Primary T helper cells fromperipheralblood	blood
36	chr8:103820200-103822400	Enhancers	Brain Angular Gyrus	brain
37	chr8:103820200-103822400	Enhancers	Fetal Muscle Leg	muscle
38	chr8:103820200-103822400	Enhancers	Sigmoid Colon	Sigmoid Colon
39	chr8:103820200-103823000	Enhancers	Brain Substantia Nigra	brain
40	chr8:103820400-103822400	Enhancers	Breast Myoepithelial Primary Cells	Breast
41	chr8:103820400-103822400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
42	chr8:103820400-103822400	Enhancers	Primary T killer memory cells from peripheral blood	blood
43	chr8:103820400-103822400	Weak transcription	Fetal Brain Female	brain
44	chr8:103820400-103822400	Enhancers	HSMMtube	muscle
45	chr8:103820800-103822400	Enhancers	Primary T helper cells PMA-I stimulated	--
46	chr8:103820800-103822400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
47	chr8:103820800-103822400	Enhancers	Small Intestine	intestine
48	chr8:103820800-103822600	Flanking Active TSS	Duodenum Mucosa	Duodenum
49	chr8:103821000-103822400	Weak transcription	Brain Germinal Matrix	brain
50	chr8:103821000-103822400	Enhancers	Brain Hippocampus Middle	brain

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