Variant report

Variant	rs74088368
Chromosome Location	chr12:39763775-39763776
allele	A/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	IRF1	chr12:39763749-39763948	K562	blood:	n/a	chr12:39763770-39763781 chr12:39763767-39763781 chr12:39763774-39763787 chr12:39763769-39763786 chr12:39763768-39763788 chr12:39763805-39763812 chr12:39763770-39763784 chr12:39763768-39763781 chr12:39763774-39763787 chr12:39763770-39763780 chr12:39763769-39763781 chr12:39763766-39763780 chr12:39763771-39763782 chr12:39763775-39763792 chr12:39763773-39763787 chr12:39763769-39763781

Variant related genes	Relation type
KIF21A	TF binding region

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs1913189	1.00[AMR][1000 genomes]
rs55756650	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56114183	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56224231	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57847806	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58046207	1.00[AMR][1000 genomes]
rs58297221	1.00[AMR][1000 genomes]
rs74086512	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74086516	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74086528	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74086539	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74086540	1.00[AMR][1000 genomes]
rs74086548	1.00[AMR][1000 genomes]
rs74086549	1.00[AMR][1000 genomes]
rs74086569	1.00[AMR][1000 genomes]
rs74088332	1.00[AMR][1000 genomes]
rs74088333	1.00[AMR][1000 genomes]
rs74088334	1.00[AMR][1000 genomes]
rs74088335	1.00[AMR][1000 genomes]
rs74088336	1.00[AMR][1000 genomes]
rs74088338	1.00[AMR][1000 genomes]
rs74088343	1.00[AMR][1000 genomes]
rs74088344	1.00[AMR][1000 genomes]
rs74088350	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74088351	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74088356	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74088360	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74088362	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74088365	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74088369	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832375	chr12:39599362-39784722	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
2	nsv832376	chr12:39633080-39808277	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
3	nsv558589	chr12:39667861-39768356	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
4	nsv531527	chr12:39680812-40182822	Enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:39697800-39771800	Weak transcription	Fetal Kidney	kidney
2	chr12:39721000-39770600	Weak transcription	Gastric	stomach
3	chr12:39722800-39767200	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr12:39726400-39766600	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr12:39726600-39766600	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr12:39726600-39766600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr12:39726600-39766800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr12:39726800-39766600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr12:39727000-39767000	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr12:39727000-39779200	Weak transcription	Aorta	Aorta
11	chr12:39735600-39766600	Weak transcription	HMEC	breast
12	chr12:39735600-39766600	Weak transcription	NHEK	skin
13	chr12:39737400-39766600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr12:39743000-39766800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr12:39743200-39765800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr12:39745000-39778600	Weak transcription	Pancreas	Pancrea
17	chr12:39748200-39764000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr12:39748400-39765800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr12:39748800-39764000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr12:39749000-39764200	Strong transcription	Cortex derived primary cultured neurospheres	brain
21	chr12:39750200-39765400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr12:39751400-39770400	Weak transcription	Brain Hippocampus Middle	brain
23	chr12:39751600-39771800	Weak transcription	Brain Anterior Caudate	brain
24	chr12:39752000-39765400	Weak transcription	Left Ventricle	heart
25	chr12:39752200-39765400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr12:39752200-39766400	Weak transcription	Fetal Heart	heart
27	chr12:39752200-39767600	Weak transcription	Primary T cells fromperipheralblood	blood
28	chr12:39752200-39769000	Weak transcription	Ovary	ovary
29	chr12:39752200-39769200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr12:39756200-39766600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr12:39756200-39767600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr12:39757000-39764000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr12:39757000-39766600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr12:39757000-39784600	Weak transcription	Brain Germinal Matrix	brain
35	chr12:39758400-39766600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr12:39758600-39764200	Weak transcription	Colonic Mucosa	Colon
37	chr12:39758600-39770600	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr12:39759200-39764600	Weak transcription	Fetal Intestine Large	intestine
39	chr12:39759200-39765400	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr12:39760400-39766200	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr12:39761000-39766200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr12:39761200-39766600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr12:39761200-39766800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr12:39761200-39769000	Weak transcription	Duodenum Mucosa	Duodenum
45	chr12:39761600-39766600	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr12:39761800-39806000	Weak transcription	Hela-S3	cervix
47	chr12:39762200-39766600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr12:39762600-39763800	Strong transcription	Fetal Brain Female	brain
49	chr12:39762600-39766400	Weak transcription	HepG2	liver
50	chr12:39762600-39766800	Weak transcription	Muscle Satellite Cultured Cells	--

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