Variant report

Variant	rs17119533
Chromosome Location	chr2:97281414-97281415
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr2:97281235-97281519	SH-SY5Y	brain:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:97280954..97282617-chr2:97300423..97302279,2	MCF-7	breast:
2	chr2:97279569..97281862-chr2:97427106..97429462,3	K562	blood:
3	chr2:97272484..97275747-chr2:97281086..97284335,5	K562	blood:
4	chr2:97271302..97276670-chr2:97279634..97284700,7	K562	blood:
5	chr2:97280379..97282475-chr2:97284196..97287040,2	K562	blood:
6	chr2:97276979..97279352-chr2:97279926..97282278,2	K562	blood:
7	chr2:97280379..97282485-chr2:97283619..97287040,4	K562	blood:

No data

Variant related genes	Relation type
KANSL3	TF binding region
ENSG00000114982	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10207855	1.00[EUR][1000 genomes]
rs1108786	1.00[EUR][1000 genomes]
rs11888876	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs11890388	1.00[EUR][1000 genomes]
rs13386976	1.00[EUR][1000 genomes]
rs2312956	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35069910	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs3806559	1.00[EUR][1000 genomes]
rs4440007	0.91[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56246244	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57537489	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57754441	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58225390	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59503513	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6576982	1.00[EUR][1000 genomes]
rs6729813	1.00[EUR][1000 genomes]
rs72939347	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72939352	1.00[EUR][1000 genomes]
rs72939374	1.00[EUR][1000 genomes]
rs72939397	0.98[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72941206	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72941231	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73959007	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7575530	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933671	chr2:96739308-97652262	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv1000780	chr2:96740430-97671395	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
3	nsv535826	chr2:96740430-97671395	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
4	nsv874677	chr2:96756547-97717345	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
5	nsv1001204	chr2:96766559-97728507	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
6	nsv535827	chr2:96766559-97728507	Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
7	esv3460902	chr2:97138421-97459342	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
8	esv3460903	chr2:97138421-97459342	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
9	nsv999871	chr2:97157196-97407711	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
10	nsv535829	chr2:97157196-97407711	Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
11	nsv469775	chr2:97240926-97412491	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
12	nsv482586	chr2:97240926-97412491	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
13	nsv834306	chr2:97241115-97412938	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats 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	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:97248400-97283600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:97256200-97282400	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr2:97256600-97283800	Strong transcription	Placenta	Placenta
4	chr2:97256600-97287000	Strong transcription	Dnd41	blood
5	chr2:97257400-97282400	Strong transcription	Primary monocytes fromperipheralblood	blood
6	chr2:97257600-97286400	Strong transcription	HUES64 Cell Line	embryonic stem cell
7	chr2:97257800-97286800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr2:97258000-97283200	Strong transcription	Primary B cells from peripheral blood	blood
9	chr2:97258200-97283200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr2:97258200-97286400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr2:97258200-97302800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr2:97261200-97301600	Strong transcription	Fetal Thymus	thymus
13	chr2:97261400-97282400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr2:97261600-97283000	Strong transcription	Primary T helper cells fromperipheralblood	blood
15	chr2:97265200-97282600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr2:97266200-97287600	Strong transcription	Fetal Muscle Trunk	muscle
17	chr2:97266200-97291000	Strong transcription	Fetal Stomach	stomach
18	chr2:97266800-97282400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr2:97268200-97281800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
20	chr2:97268600-97285800	Strong transcription	Fetal Intestine Large	intestine
21	chr2:97268800-97284200	Strong transcription	Liver	Liver
22	chr2:97268800-97287400	Strong transcription	Fetal Intestine Small	intestine
23	chr2:97273200-97291800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr2:97273400-97287000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr2:97274800-97281600	Weak transcription	Right Atrium	heart
26	chr2:97275000-97282400	Strong transcription	Left Ventricle	heart
27	chr2:97275000-97298600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr2:97275400-97284600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr2:97275600-97281800	Strong transcription	Osteobl	bone
30	chr2:97276800-97285000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr2:97277000-97284400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr2:97277200-97291800	Weak transcription	Stomach Mucosa	stomach
33	chr2:97278600-97284400	Weak transcription	HSMM	muscle
34	chr2:97278600-97293200	Weak transcription	Small Intestine	intestine
35	chr2:97278800-97282400	Weak transcription	GM12878-XiMat	blood
36	chr2:97278800-97282800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
37	chr2:97278800-97284800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr2:97279000-97281800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr2:97279000-97282400	Weak transcription	Colonic Mucosa	Colon
40	chr2:97279000-97284400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr2:97279000-97284400	Weak transcription	Colon Smooth Muscle	Colon
42	chr2:97279000-97284400	Weak transcription	NHDF-Ad	bronchial
43	chr2:97279400-97281600	Weak transcription	Spleen	Spleen
44	chr2:97279400-97281800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr2:97279400-97281800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr2:97279400-97281800	Weak transcription	Lung	lung
47	chr2:97279400-97281800	Weak transcription	Ovary	ovary
48	chr2:97279400-97281800	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr2:97279400-97282000	Weak transcription	Brain Substantia Nigra	brain
50	chr2:97279400-97282000	Weak transcription	Esophagus	oesophagus

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links