Variant report

Variant	rs7424890
Chromosome Location	chr2:47195195-47195196
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: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
ENSG00000068724	Chromatin interaction
ENSG00000143933	Chromatin interaction
ENSG00000180398	Chromatin interaction
ENSG00000196208	Chromatin interaction
ENSG00000272814	Chromatin interaction
ENSG00000264010	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs4542901	0.82[JPT][hapmap]

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	chr2:47181600-47210800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr2:47184600-47197600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr2:47184600-47205000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr2:47185000-47206000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr2:47185200-47210200	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr2:47185400-47205800	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr2:47185400-47210400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr2:47186200-47200800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr2:47186400-47205600	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr2:47186800-47205200	Weak transcription	Gastric	stomach
14	chr2:47186800-47205800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr2:47187200-47197000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr2:47187400-47206000	Weak transcription	Fetal Brain Female	brain
17	chr2:47187800-47203200	Weak transcription	Brain Germinal Matrix	brain
18	chr2:47187800-47210200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr2:47188000-47205200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr2:47188000-47207000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr2:47188200-47196800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr2:47190000-47197000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr2:47190400-47196800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr2:47191200-47198800	Enhancers	Placenta	Placenta
25	chr2:47191400-47195400	Enhancers	Primary monocytes fromperipheralblood	blood
26	chr2:47191400-47197000	Enhancers	HepG2	liver
27	chr2:47192200-47197000	Weak transcription	GM12878-XiMat	blood
28	chr2:47192600-47195200	Weak transcription	Lung	lung
29	chr2:47193800-47195200	Enhancers	Primary hematopoietic stem cells	blood
30	chr2:47193800-47204000	Strong transcription	Primary T cells from cord blood	blood
31	chr2:47194400-47195200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr2:47194400-47195600	Strong transcription	Primary B cells from cord blood	blood
33	chr2:47194400-47195600	Strong transcription	Primary T helper cells fromperipheralblood	blood
34	chr2:47194400-47195600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
35	chr2:47194400-47195600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
36	chr2:47194400-47195800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr2:47194400-47196000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr2:47194400-47196200	Enhancers	Brain Cingulate Gyrus	brain
39	chr2:47194400-47196200	Enhancers	Duodenum Smooth Muscle	Duodenum
40	chr2:47194400-47196400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr2:47194600-47195200	Enhancers	Primary hematopoietic stem cells short term culture	blood
42	chr2:47194600-47195200	Enhancers	Fetal Heart	heart
43	chr2:47194600-47195400	Enhancers	Brain Angular Gyrus	brain
44	chr2:47194600-47195400	Enhancers	Rectal Mucosa Donor 31	rectum
45	chr2:47194600-47195400	Active TSS	A549	lung
46	chr2:47194600-47195800	Enhancers	Brain Inferior Temporal Lobe	brain
47	chr2:47194600-47195800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
48	chr2:47194600-47195800	Flanking Active TSS	HMEC	breast
49	chr2:47194600-47195800	Flanking Active TSS	K562	blood
50	chr2:47194600-47195800	Enhancers	NH-A	brain

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