Variant report

Variant	rs59785154
Chromosome Location	chr2:47194899-47194900
allele	C/G
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:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:47194084..47197081-chr2:47210689..47213163,3	MCF-7	breast:
2	chr2:47176114..47178035-chr2:47194431..47196256,2	MCF-7	breast:
3	chr2:47193547..47196225-chr2:47402944..47405223,3	K562	blood:
4	chr2:47187033..47189469-chr2:47193836..47195878,3	K562	blood:
5	chr2:47142565..47145149-chr2:47193647..47195451,2	MCF-7	breast:
6	chr2:47193547..47196225-chr2:47402944..47405223,2	K562	blood:
7	chr2:47193634..47195706-chr2:47417970..47421057,3	MCF-7	breast:
8	chr2:47194544..47196937-chr2:47423756..47426631,2	MCF-7	breast:
9	chr2:47192694..47195211-chr2:47401865..47404549,2	MCF-7	breast:
10	chr2:47187196..47189575-chr2:47193868..47196024,2	MCF-7	breast:
11	chr2:47194472..47196362-chr2:47425821..47428121,3	MCF-7	breast:
12	chr2:11678126..11680963-chr2:47194547..47197041,2	MCF-7	breast:
13	chr2:47194294..47196907-chr2:47548954..47551761,2	MCF-7	breast:
14	chr2:47191916..47197742-chr2:47401234..47405560,7	MCF-7	breast:
15	chr2:47166867..47170590-chr2:47194468..47200247,20	MCF-7	breast:
16	chr2:47164675..47170526-chr2:47188235..47196918,12	MCF-7	breast:
17	chr2:47182604..47186847-chr2:47193837..47196503,3	K562	blood:
18	chr2:47168073..47168635-chr2:47194598..47195308,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
ENSG00000180398	Chromatin interaction
ENSG00000196208	Chromatin interaction
ENSG00000143933	Chromatin interaction
ENSG00000264010	Chromatin interaction
ENSG00000272814	Chromatin interaction
ENSG00000068724	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs13399571	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17036022	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17036033	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17480869	0.86[ASN][1000 genomes]
rs17480988	0.86[ASN][1000 genomes]
rs17481037	0.86[ASN][1000 genomes]
rs17481209	0.86[ASN][1000 genomes]
rs17540157	0.86[ASN][1000 genomes]
rs17540219	0.86[ASN][1000 genomes]
rs17540462	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3814035	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55641002	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs55805005	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs55824224	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58637066	0.86[ASN][1000 genomes]
rs58674434	0.86[ASN][1000 genomes]
rs60732316	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6726941	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6727430	0.86[ASN][1000 genomes]
rs6727529	0.86[ASN][1000 genomes]
rs6751599	0.86[ASN][1000 genomes]
rs6751621	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6754795	0.86[ASN][1000 genomes]
rs6755001	0.86[ASN][1000 genomes]
rs72806525	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72806536	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72806537	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72806538	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72806541	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72806558	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72806562	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72806571	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7564728	0.86[ASN][1000 genomes]
rs7576915	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817517	chr2:46819371-47715140	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
2	nsv457352	chr2:47004788-47325973	Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv581749	chr2:47004788-47325973	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv1004828	chr2:47056849-47814482	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
5	nsv524970	chr2:47162739-47302095	Enhancers Genic enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	nsv1000377	chr2:47189386-47344029	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
7	esv1009804	chr2:47193130-47196785	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47169800-47214600	Weak transcription	Fetal Kidney	kidney
2	chr2:47174400-47212400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr2:47177200-47210400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr2:47179200-47195000	Strong transcription	Fetal Thymus	thymus
5	chr2:47181600-47210800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr2:47183000-47195000	Weak transcription	Small Intestine	intestine
7	chr2:47184600-47197600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr2:47184600-47205000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr2:47185000-47206000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr2:47185200-47210200	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr2:47185400-47205800	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr2:47185400-47210400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr2:47185600-47195000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr2:47185800-47195000	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr2:47186000-47195000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr2:47186000-47195000	Weak transcription	Left Ventricle	heart
17	chr2:47186200-47200800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr2:47186400-47205600	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr2:47186800-47205200	Weak transcription	Gastric	stomach
20	chr2:47186800-47205800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr2:47187000-47195000	Weak transcription	Right Ventricle	heart
22	chr2:47187200-47197000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr2:47187400-47206000	Weak transcription	Fetal Brain Female	brain
24	chr2:47187800-47195000	Weak transcription	Colonic Mucosa	Colon
25	chr2:47187800-47203200	Weak transcription	Brain Germinal Matrix	brain
26	chr2:47187800-47210200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr2:47188000-47205200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr2:47188000-47207000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr2:47188200-47196800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr2:47189800-47195000	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr2:47189800-47195000	Weak transcription	Fetal Muscle Leg	muscle
32	chr2:47190000-47195000	Weak transcription	Right Atrium	heart
33	chr2:47190000-47197000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr2:47190400-47195000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
35	chr2:47190400-47196800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr2:47190600-47195000	Enhancers	Liver	Liver
37	chr2:47191200-47198800	Enhancers	Placenta	Placenta
38	chr2:47191400-47195400	Enhancers	Primary monocytes fromperipheralblood	blood
39	chr2:47191400-47197000	Enhancers	HepG2	liver
40	chr2:47191800-47195000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr2:47192200-47195000	Weak transcription	Aorta	Aorta
42	chr2:47192200-47195000	Weak transcription	Fetal Muscle Trunk	muscle
43	chr2:47192200-47197000	Weak transcription	GM12878-XiMat	blood
44	chr2:47192600-47195000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr2:47192600-47195000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr2:47192600-47195000	Weak transcription	Esophagus	oesophagus
47	chr2:47192600-47195000	Weak transcription	Fetal Intestine Large	intestine
48	chr2:47192600-47195000	Weak transcription	Ovary	ovary
49	chr2:47192600-47195000	Weak transcription	Pancreas	Pancrea
50	chr2:47192600-47195000	Weak transcription	Sigmoid Colon	Sigmoid Colon

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