Variant report

Variant	rs12947188
Chromosome Location	chr17:38495955-38495956
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr17:38495847-38496431	K562	blood:	n/a	n/a
2	POLR2A	chr17:38495286-38496197	HL-60	blood:	n/a	n/a
3	POLR2A	chr17:38495249-38496328	U87	brain:	n/a	n/a
4	POLR2A	chr17:38495745-38498511	MCF-7	breast:	n/a	n/a
5	POLR2A	chr17:38495892-38502181	IMR90	lung:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:38472788..38480698-chr17:38493295..38509406,39	K562	blood:
2	chr17:38464338..38472007-chr17:38495904..38503617,17	K562	blood:
3	chr17:38478220..38478986-chr17:38495254..38496238,3	MCF-7	breast:
4	chr17:38495479..38497798-chr17:38515980..38518835,2	K562	blood:

No data

Variant related genes	Relation type
RARA	TF binding region
ENSG00000266208	Chromatin interaction
ENSG00000131759	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1130199	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs12936565	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs12937995	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12944531	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs34789145	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7213066	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs7218938	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7224658	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8065665	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8067148	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs8072718	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs8074251	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs8076915	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs9892367	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1058194	chr17:38457226-38502453	Flanking Active TSS Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv833445	chr17:38466474-38637969	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv1063310	chr17:38467043-38499351	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
4	nsv1057471	chr17:38467043-38502453	Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
5	nsv1058540	chr17:38467043-38515087	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:38485600-38497200	Genic enhancers	Fetal Muscle Leg	muscle
2	chr17:38487200-38497400	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr17:38488200-38497000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr17:38489000-38496800	Enhancers	Primary T helper cells PMA-I stimulated	--
5	chr17:38489000-38497200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr17:38489200-38497000	Weak transcription	HSMMtube	muscle
7	chr17:38489600-38497400	Weak transcription	Brain Anterior Caudate	brain
8	chr17:38490200-38497200	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr17:38490600-38496600	Weak transcription	Small Intestine	intestine
10	chr17:38491000-38497200	Weak transcription	Brain Cingulate Gyrus	brain
11	chr17:38491200-38497200	Enhancers	Skeletal Muscle Female	skeletal muscle
12	chr17:38491400-38497000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr17:38491400-38497000	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr17:38491400-38497400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr17:38491600-38496400	Strong transcription	Fetal Intestine Small	intestine
16	chr17:38491600-38496800	Weak transcription	Fetal Kidney	kidney
17	chr17:38491600-38497000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr17:38491600-38497000	Weak transcription	NH-A	brain
19	chr17:38492000-38497200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
20	chr17:38492200-38496000	Weak transcription	HSMM	muscle
21	chr17:38492200-38497000	Weak transcription	Gastric	stomach
22	chr17:38492200-38497000	Enhancers	Skeletal Muscle Male	skeletal muscle
23	chr17:38492200-38497200	Weak transcription	Aorta	Aorta
24	chr17:38492400-38497000	Weak transcription	Rectal Smooth Muscle	rectum
25	chr17:38492400-38497000	Weak transcription	HUVEC	blood vessel
26	chr17:38492600-38496400	Weak transcription	HepG2	liver
27	chr17:38492600-38496800	Weak transcription	Hela-S3	cervix
28	chr17:38492800-38497400	Enhancers	Fetal Thymus	thymus
29	chr17:38493000-38496800	Genic enhancers	Fetal Muscle Trunk	muscle
30	chr17:38493000-38497200	Enhancers	Placenta	Placenta
31	chr17:38493200-38496000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr17:38493200-38497000	Enhancers	Primary hematopoietic stem cells	blood
33	chr17:38493200-38497200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
34	chr17:38493200-38497200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
35	chr17:38493400-38496400	Strong transcription	Fetal Intestine Large	intestine
36	chr17:38493400-38496400	Enhancers	Ovary	ovary
37	chr17:38493400-38496800	Genic enhancers	GM12878-XiMat	blood
38	chr17:38493400-38497200	Enhancers	Primary B cells from peripheral blood	blood
39	chr17:38493600-38496200	Enhancers	Pancreas	Pancrea
40	chr17:38493600-38496200	Genic enhancers	Spleen	Spleen
41	chr17:38493600-38496400	Genic enhancers	Lung	lung
42	chr17:38493600-38497200	Enhancers	Psoas Muscle	Psoas
43	chr17:38493800-38496400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr17:38493800-38496400	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr17:38493800-38496400	Enhancers	Right Atrium	heart
46	chr17:38493800-38497200	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
47	chr17:38494000-38497000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr17:38494000-38497000	Weak transcription	Fetal Brain Male	brain
49	chr17:38494000-38497200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr17:38494000-38497200	Enhancers	Left Ventricle	heart

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