Variant report

Variant	rs2163984
Chromosome Location	chr2:47200573-47200574
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:47185770..47187647-chr2:47200287..47201915,2	K562	blood:
2	chr2:47192520..47194152-chr2:47197519..47201107,3	K562	blood:
3	chr2:47198362..47200774-chr2:47207735..47209827,2	K562	blood:
4	chr2:47198749..47201543-chr2:47204357..47206342,2	MCF-7	breast:
5	chr2:47184744..47187647-chr2:47199818..47201787,2	K562	blood:
6	chr2:47195860..47200774-chr2:47207735..47210386,4	K562	blood:
7	chr2:47200108..47202045-chr2:47202307..47204187,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000068724	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1010724	1.00[AMR][1000 genomes]
rs11884772	1.00[AMR][1000 genomes]
rs11887906	1.00[AMR][1000 genomes]
rs11899789	1.00[AMR][1000 genomes]
rs13427974	1.00[AMR][1000 genomes]
rs17036015	1.00[AMR][1000 genomes]
rs17036119	1.00[AMR][1000 genomes]
rs36006218	1.00[AMR][1000 genomes]
rs57585816	1.00[AFR][1000 genomes]
rs58086545	1.00[AMR][1000 genomes]
rs6732744	1.00[AMR][1000 genomes]

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	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

No data

Chromatin state (count:115 , 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	chr2:47184600-47205000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr2:47185000-47206000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr2:47185200-47210200	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr2:47185400-47205800	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr2:47185400-47210400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr2:47186200-47200800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr2:47186400-47205600	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr2:47186800-47205200	Weak transcription	Gastric	stomach
13	chr2:47186800-47205800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr2:47187400-47206000	Weak transcription	Fetal Brain Female	brain
15	chr2:47187800-47203200	Weak transcription	Brain Germinal Matrix	brain
16	chr2:47187800-47210200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr2:47188000-47205200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr2:47188000-47207000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr2:47193800-47204000	Strong transcription	Primary T cells from cord blood	blood
20	chr2:47195200-47202200	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr2:47195400-47202000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr2:47195600-47205200	Weak transcription	Fetal Lung	lung
23	chr2:47195600-47210400	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr2:47195600-47212800	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr2:47195800-47200600	Weak transcription	Fetal Muscle Leg	muscle
26	chr2:47195800-47202000	Enhancers	Primary monocytes fromperipheralblood	blood
27	chr2:47195800-47202000	Weak transcription	Primary T helper cells PMA-I stimulated	--
28	chr2:47196000-47200600	Weak transcription	HSMMtube	muscle
29	chr2:47196000-47205800	Weak transcription	Rectal Smooth Muscle	rectum
30	chr2:47196400-47211800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr2:47196600-47227800	Strong transcription	Dnd41	blood
32	chr2:47197200-47202000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr2:47197200-47203200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr2:47197600-47200800	Strong transcription	Fetal Thymus	thymus
35	chr2:47197600-47206000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr2:47197800-47201200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr2:47197800-47201600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr2:47197800-47202000	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr2:47197800-47202000	Weak transcription	Fetal Muscle Trunk	muscle
40	chr2:47197800-47202200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr2:47198000-47200600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr2:47198000-47200800	Weak transcription	Brain Anterior Caudate	brain
43	chr2:47198000-47201000	Strong transcription	Primary B cells from cord blood	blood
44	chr2:47198000-47201800	Weak transcription	Primary neutrophils fromperipheralblood	blood
45	chr2:47198000-47203600	Weak transcription	Aorta	Aorta
46	chr2:47198000-47204000	Weak transcription	Left Ventricle	heart
47	chr2:47198000-47209800	Weak transcription	Right Atrium	heart
48	chr2:47198200-47200800	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr2:47198200-47201200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr2:47198200-47201200	Weak transcription	Ovary	ovary

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links