Variant report

Variant	rs2075751
Chromosome Location	chr19:42373893-42373894
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:42373799..42381047-chr19:42460989..42465067,14	K562	blood:
2	chr19:42373353..42379670-chr19:42459996..42464717,12	K562	blood:
3	chr19:42371817..42374747-chr19:42545510..42548368,2	K562	blood:
4	chr19:42371951..42373649-chr19:42373763..42375308,2	MCF-7	breast:
5	chr19:42373231..42374863-chr19:42378109..42381070,2	MCF-7	breast:
6	chr19:42311919..42314019-chr19:42373613..42376038,2	K562	blood:
7	chr19:42373255..42375761-chr19:42417935..42419997,2	K562	blood:
8	chr19:42311919..42314958-chr19:42372358..42376038,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000105404	Chromatin interaction
ENSG00000170956	Chromatin interaction
ENSG00000105737	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11665965	0.83[MEX][hapmap]
rs12974044	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1864207	0.83[MEX][hapmap]
rs3752172	1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.85[ASN][1000 genomes]
rs3786539	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7258162	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv522854	chr19:42120283-42931004	Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
2	nsv1061878	chr19:42325490-42416056	Strong transcription Flanking Active TSS Weak transcription Genic enhancers Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv911776	chr19:42343526-42416056	Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv911777	chr19:42357455-42521108	Bivalent/Poised TSS Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv520239	chr19:42357455-42931004	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription Genic enhancers Weak transcription 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	92 gene(s)	inside rSNPs	diseases
6	nsv911778	chr19:42358362-42416056	Strong transcription Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
7	esv1805469	chr19:42367635-42798851	Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
8	nsv932623	chr19:42370540-42378620	Genic enhancers Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS	TF binding region Chromatin interactive region miRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs2075751	IGFL1	cis	parietal	SCAN
rs2075751	TMEM143	cis	parietal	SCAN
rs2075751	RABAC1	Cis_1M	lymphoblastoid	RTeQTL
rs2075751	SLC1A5	cis	parietal	SCAN

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42365400-42374800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr19:42365400-42375000	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
3	chr19:42365400-42376200	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr19:42365400-42376600	Genic enhancers	Primary B cells from peripheral blood	blood
5	chr19:42365600-42374600	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
6	chr19:42365600-42374800	Genic enhancers	Primary T cells fromperipheralblood	blood
7	chr19:42365800-42374600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr19:42365800-42374800	Genic enhancers	Primary T killer memory cells from peripheral blood	blood
9	chr19:42365800-42375000	Genic enhancers	Fetal Intestine Small	intestine
10	chr19:42366000-42374800	Genic enhancers	Primary T helper cells fromperipheralblood	blood
11	chr19:42366000-42376000	Strong transcription	HSMMtube	muscle
12	chr19:42366400-42377600	Strong transcription	Fetal Brain Female	brain
13	chr19:42366600-42374400	Strong transcription	Thymus	Thymus
14	chr19:42366600-42375000	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr19:42366800-42374800	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr19:42367000-42376600	Strong transcription	H9 Cell Line	embryonic stem cell
17	chr19:42367000-42376800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr19:42367200-42377200	Strong transcription	Brain Inferior Temporal Lobe	brain
19	chr19:42367400-42375600	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr19:42367600-42374800	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr19:42367600-42374800	Genic enhancers	HepG2	liver
22	chr19:42367600-42375200	Genic enhancers	Primary T helper cells PMA-I stimulated	--
23	chr19:42367600-42375600	Strong transcription	Right Ventricle	heart
24	chr19:42367600-42376200	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
25	chr19:42367600-42379200	Weak transcription	Fetal Brain Male	brain
26	chr19:42367800-42374400	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr19:42367800-42374800	Strong transcription	Brain Anterior Caudate	brain
28	chr19:42367800-42375800	Strong transcription	Left Ventricle	heart
29	chr19:42367800-42376200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr19:42368400-42376600	Strong transcription	Brain Cingulate Gyrus	brain
31	chr19:42368600-42376200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr19:42368800-42374400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr19:42368800-42374400	Genic enhancers	Dnd41	blood
34	chr19:42368800-42376200	Strong transcription	HUES64 Cell Line	embryonic stem cell
35	chr19:42368800-42376200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
36	chr19:42368800-42377000	Strong transcription	Fetal Stomach	stomach
37	chr19:42368800-42377400	Strong transcription	Brain Germinal Matrix	brain
38	chr19:42369000-42376800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr19:42369000-42376800	Strong transcription	Muscle Satellite Cultured Cells	--
40	chr19:42369200-42376200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
41	chr19:42369200-42377200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr19:42369400-42376600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr19:42369400-42377600	Genic enhancers	Fetal Thymus	thymus
44	chr19:42369600-42374400	Strong transcription	Liver	Liver
45	chr19:42369600-42374600	Strong transcription	K562	blood
46	chr19:42369600-42375400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
47	chr19:42369600-42376400	Strong transcription	HUES6 Cell Line	embryonic stem cell
48	chr19:42369600-42376400	Strong transcription	HUVEC	blood vessel
49	chr19:42369600-42376600	Strong transcription	HSMM	muscle
50	chr19:42369600-42377400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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