Variant report

Variant	rs17434731
Chromosome Location	chr12:121583993-121583994
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF384	chr12:121583849-121584053	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:121561837..121563360-chr12:121583686..121585355,2	K562	blood:
2	chr12:121581791..121584022-chr12:121646215..121648780,2	K562	blood:
3	chr12:121578629..121580685-chr12:121583466..121586479,3	K562	blood:
4	chr12:121582333..121584547-chr12:121587526..121589341,2	K562	blood:

Variant related genes	Relation type
ENSG00000257053	TF binding region
ENSG00000135124	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10492051	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1180008	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17433716	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17434682	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17434809	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17512249	0.91[CEU][hapmap];1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17525767	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17526121	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1796415	0.83[CEU][hapmap]
rs1963773	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs208291	0.85[CEU][hapmap];0.99[EUR][1000 genomes]
rs28360439	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs28969463	0.95[EUR][1000 genomes]
rs3850517	0.81[AMR][1000 genomes]
rs41416850	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4445718	0.81[AMR][1000 genomes]
rs55728984	0.84[AMR][1000 genomes]
rs55814439	0.97[EUR][1000 genomes]
rs55817936	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs56017922	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs560422	1.00[CEU][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56156773	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs56159890	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7312738	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73214189	0.80[AMR][1000 genomes]
rs73214193	0.81[AMR][1000 genomes]
rs73214200	0.81[AMR][1000 genomes]
rs73216105	0.84[AMR][1000 genomes]
rs73216108	0.84[AMR][1000 genomes]
rs73216109	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73216110	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73216131	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73218207	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73218210	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73218221	0.95[EUR][1000 genomes]
rs7959194	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7973360	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv521928	chr12:121041728-121761800	Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv899559	chr12:121324727-121592689	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	esv2758318	chr12:121415845-121584813	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	esv2759917	chr12:121415845-121584813	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	nsv832531	chr12:121440495-121604232	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
6	nsv560454	chr12:121457073-121745742	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
7	nsv1054878	chr12:121519880-121761800	Flanking Active TSS Genic enhancers Strong transcription Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
8	nsv455729	chr12:121525591-121761800	Enhancers Strong transcription Genic enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer 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	25 gene(s)	inside rSNPs	diseases
9	nsv560455	chr12:121525591-121761800	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
10	nsv899563	chr12:121543011-121600529	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	nsv1050519	chr12:121552964-121756420	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121571400-121594000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:121571800-121623200	Weak transcription	Colonic Mucosa	Colon
3	chr12:121572200-121599800	Weak transcription	Colon Smooth Muscle	Colon
4	chr12:121572600-121592600	Weak transcription	Liver	Liver
5	chr12:121572800-121601600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr12:121576600-121592400	Weak transcription	Stomach Smooth Muscle	stomach
7	chr12:121577000-121593400	Weak transcription	Primary T cells from cord blood	blood
8	chr12:121578200-121585200	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr12:121578200-121592400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr12:121580400-121592000	Weak transcription	Ovary	ovary
11	chr12:121580400-121592400	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr12:121580800-121584000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr12:121581000-121584000	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr12:121581800-121584000	Genic enhancers	Brain Hippocampus Middle	brain
15	chr12:121582000-121594000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr12:121582200-121584000	Enhancers	GM12878-XiMat	blood
17	chr12:121582200-121593200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr12:121582400-121584600	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr12:121583000-121592400	Weak transcription	Spleen	Spleen
20	chr12:121583000-121595200	Weak transcription	Adipose Nuclei	Adipose
21	chr12:121583000-121613200	Weak transcription	Primary B cells from cord blood	blood
22	chr12:121583000-121634600	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr12:121583200-121586600	Weak transcription	Brain Cingulate Gyrus	brain
24	chr12:121583200-121592200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr12:121583200-121593600	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr12:121583200-121593800	Weak transcription	Brain Anterior Caudate	brain
27	chr12:121583200-121594000	Weak transcription	Brain Angular Gyrus	brain
28	chr12:121583200-121594200	Weak transcription	Lung	lung
29	chr12:121583200-121595800	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr12:121583400-121584400	Weak transcription	Brain Substantia Nigra	brain
31	chr12:121583600-121584000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
32	chr12:121583600-121599600	Weak transcription	Primary T cells fromperipheralblood	blood
33	chr12:121583800-121584000	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr12:121583800-121584000	Enhancers	Esophagus	oesophagus
35	chr12:121583800-121586600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr12:121583800-121600400	Weak transcription	Primary T helper cells fromperipheralblood	blood
37	chr12:121583800-121602000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr12:121583800-121603200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr12:121583800-121623600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr12:121583800-121634400	Weak transcription	Primary T helper cells PMA-I stimulated	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links