Variant report

Variant	rs3134637
Chromosome Location	chr2:38972796-38972797
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:38797642..38800500-chr2:38970154..38972893,3	K562	blood:
2	chr2:38777342..38780101-chr2:38971109..38972812,2	K562	blood:
3	chr2:38821957..38830238-chr2:38965333..38974515,17	K562	blood:
4	chr2:38970433..38973202-chr2:39101561..39103426,2	K562	blood:
5	chr2:38971477..38974181-chr2:39070212..39071979,2	K562	blood:
6	chr2:38816516..38836019-chr2:38963690..38980163,62	K562	blood:
7	chr2:38776554..38778945-chr2:38971889..38973441,2	K562	blood:
8	chr2:38971158..38973654-chr2:39179143..39181856,2	MCF-7	breast:
9	chr2:38798201..38801159-chr2:38970584..38973255,2	K562	blood:
10	chr2:38539761..38541976-chr2:38970662..38973423,2	K562	blood:
11	chr2:38806174..38811270-chr2:38966687..38973672,10	K562	blood:
12	chr2:38539761..38541976-chr2:38970662..38973423,3	K562	blood:
13	chr2:38759757..38767880-chr2:38967038..38973617,12	K562	blood:
14	chr2:38825865..38831347-chr2:38967441..38973263,7	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000235586	Chromatin interaction
ENSG00000188010	Chromatin interaction
ENSG00000163214	Chromatin interaction
ENSG00000143889	Chromatin interaction
ENSG00000271443	Chromatin interaction

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs1010859	0.88[JPT][hapmap]
rs10197412	0.91[CHB][hapmap];0.80[ASN][1000 genomes]
rs10865143	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs11898812	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs12472454	0.81[ASN][1000 genomes]
rs12474770	0.86[ASN][1000 genomes]
rs12618118	1.00[CHB][hapmap];0.87[ASN][1000 genomes]
rs12621103	0.90[CHB][hapmap];0.85[ASN][1000 genomes]
rs12991609	0.85[ASN][1000 genomes]
rs13024811	0.91[CHB][hapmap];0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs1529625	0.91[CHB][hapmap]
rs1979143	0.90[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs2037875	0.91[CHB][hapmap]
rs3097713	0.91[CHB][hapmap];0.88[JPT][hapmap];0.91[YRI][hapmap];0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3097714	0.88[JPT][hapmap];0.82[EUR][1000 genomes]
rs3097716	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3099961	0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs3099965	0.87[ASN][1000 genomes]
rs3099968	0.90[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs3099971	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3099975	0.80[ASN][1000 genomes]
rs3099977	0.80[ASN][1000 genomes]
rs3099980	0.85[ASN][1000 genomes]
rs3099990	0.83[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.81[ASN][1000 genomes]
rs3099992	0.81[ASN][1000 genomes]
rs3100000	1.00[JPT][hapmap]
rs3108666	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3112142	0.81[CHB][hapmap];0.85[ASN][1000 genomes]
rs3112143	0.80[ASN][1000 genomes]
rs3112150	0.85[ASN][1000 genomes]
rs3112152	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3112156	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3112159	0.88[JPT][hapmap]
rs3112161	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3112163	1.00[JPT][hapmap]
rs3112178	0.90[CHB][hapmap];0.88[JPT][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3112183	1.00[CHB][hapmap];0.88[ASN][1000 genomes]
rs3112184	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3112186	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3112188	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3112189	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3112191	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3112192	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3112194	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3112196	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.88[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs3112198	0.91[ASN][1000 genomes]
rs3112204	0.95[ASN][1000 genomes]
rs3134628	0.83[CHB][hapmap];0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs3134629	0.88[ASN][1000 genomes]
rs3134630	0.88[ASN][1000 genomes]
rs35387882	0.93[ASN][1000 genomes]
rs3731838	0.91[CHB][hapmap]
rs4670268	0.86[JPT][hapmap]
rs4670892	0.86[ASN][1000 genomes]
rs6715866	0.91[CHB][hapmap];0.86[ASN][1000 genomes]
rs6717670	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs6746818	0.92[CHB][hapmap];0.80[ASN][1000 genomes]
rs756338	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916059	chr2:38332341-39119398	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	143 gene(s)	inside rSNPs	diseases
2	nsv9646	chr2:38358311-39082189	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	141 gene(s)	inside rSNPs	diseases
3	nsv820974	chr2:38945458-38972971	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region miRNA target site	11 gene(s)	inside rSNPs	diseases
4	esv1800732	chr2:38951608-38973837	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	12 gene(s)	inside rSNPs	diseases
5	esv2763640	chr2:38954419-38977371	Genic enhancers Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	38 gene(s)	inside rSNPs	diseases
6	nsv819664	chr2:38955537-38972936	Weak transcription Genic enhancers Strong transcription Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
7	nsv828997	chr2:38955665-38972971	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
8	esv1820680	chr2:38955865-38973046	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region miRNA target site	11 gene(s)	inside rSNPs	diseases
9	esv1831489	chr2:38955865-38973046	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	Chromatin interactive region miRNA target site	11 gene(s)	inside rSNPs	diseases
10	esv1798055	chr2:38955865-39039504	Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
11	esv20771	chr2:38955877-38972830	Genic enhancers Weak transcription Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
12	nsv581490	chr2:38955977-38973814	Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	11 gene(s)	inside rSNPs	diseases
13	esv1834132	chr2:38955977-38977612	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	43 gene(s)	inside rSNPs	diseases
14	esv1836070	chr2:38955977-38977612	Strong transcription Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Flanking Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	43 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:38950400-38973600	Weak transcription	Fetal Brain Male	brain
2	chr2:38956600-38974200	Strong transcription	Fetal Thymus	thymus
3	chr2:38964400-38974000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr2:38964600-38973800	Strong transcription	K562	blood
5	chr2:38964600-38974000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr2:38965400-38974800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr2:38965400-38974800	Strong transcription	HUES6 Cell Line	embryonic stem cell
8	chr2:38966000-38974200	Weak transcription	Right Ventricle	heart
9	chr2:38966600-38974200	Strong transcription	HMEC	breast
10	chr2:38967000-38973800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:38967000-38973800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr2:38967200-38974600	Strong transcription	HUES64 Cell Line	embryonic stem cell
13	chr2:38967400-38973600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr2:38968000-38974200	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr2:38968000-38976000	Strong transcription	Cortex derived primary cultured neurospheres	brain
16	chr2:38968200-38974200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr2:38968200-38974800	Strong transcription	Osteobl	bone
18	chr2:38968200-38976200	Genic enhancers	Liver	Liver
19	chr2:38968200-38976200	Strong transcription	Fetal Muscle Leg	muscle
20	chr2:38968200-38976400	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
21	chr2:38968400-38972800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
22	chr2:38968400-38972800	Strong transcription	Lung	lung
23	chr2:38968400-38974200	Strong transcription	Primary B cells from peripheral blood	blood
24	chr2:38968400-38974200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
25	chr2:38968400-38974200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr2:38968400-38974200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr2:38968400-38975000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr2:38968400-38975200	Strong transcription	Thymus	Thymus
29	chr2:38968400-38976000	Strong transcription	Placenta	Placenta
30	chr2:38968600-38973400	Strong transcription	Stomach Smooth Muscle	stomach
31	chr2:38968600-38974000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr2:38968600-38974000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr2:38968600-38974000	Strong transcription	Brain Germinal Matrix	brain
34	chr2:38968600-38974000	Weak transcription	Stomach Mucosa	stomach
35	chr2:38968600-38974200	Strong transcription	Primary monocytes fromperipheralblood	blood
36	chr2:38968600-38974200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr2:38968600-38974200	Strong transcription	Fetal Brain Female	brain
38	chr2:38968600-38976600	Strong transcription	Fetal Muscle Trunk	muscle
39	chr2:38968800-38973400	Strong transcription	NH-A	brain
40	chr2:38968800-38974200	Strong transcription	Brain Hippocampus Middle	brain
41	chr2:38968800-38974800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr2:38968800-38975600	Strong transcription	Primary B cells from cord blood	blood
43	chr2:38968800-38976600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr2:38968800-38976600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr2:38969200-38976000	Genic enhancers	HepG2	liver
46	chr2:38969400-38974200	Strong transcription	Fetal Intestine Large	intestine
47	chr2:38969400-38975400	Strong transcription	Primary hematopoietic stem cells	blood
48	chr2:38969600-38973600	Strong transcription	Rectal Mucosa Donor 29	rectum
49	chr2:38969800-38974200	Strong transcription	NHLF	lung
50	chr2:38969800-38975600	Strong transcription	HUES48 Cell Line	embryonic stem cell

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