Variant report

Variant	rs13232124
Chromosome Location	chr7:137691708-137691709
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	SMC3	chr7:137691623-137694584	SK-N-SH	brain:	n/a	chr7:137693750-137693764

No.	Distal block	Cell Line	Cell type
1	chr7:137583170..137588345-chr7:137688405..137691754,4	K562	blood:
2	chr7:137620160..137621730-chr7:137691300..137693565,2	MCF-7	breast:
3	chr7:137685701..137688998-chr7:137689379..137693014,4	MCF-7	breast:

Variant related genes	Relation type
CREB3L2	TF binding region
ENSG00000182158	Chromatin interaction
ENSG00000122787	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10954596	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10954597	0.81[CEU][hapmap];0.99[EUR][1000 genomes]
rs11769891	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11972734	1.00[CEU][hapmap];0.93[CHB][hapmap];0.97[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1424376	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2113439	0.81[CEU][hapmap]
rs34394140	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34469503	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34970488	0.88[EUR][1000 genomes]
rs35508415	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35556241	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56083840	0.85[EUR][1000 genomes]
rs713470	0.81[CEU][hapmap]
rs713471	0.99[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv518070	chr7:137534627-137808839	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:137686800-137693400	Weak transcription	Aorta	Aorta
2	chr7:137686800-137693400	Weak transcription	Fetal Heart	heart
3	chr7:137687000-137693400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr7:137687000-137693400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr7:137687000-137693400	Weak transcription	Right Atrium	heart
6	chr7:137687000-137700000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr7:137687600-137692800	Weak transcription	Rectal Smooth Muscle	rectum
8	chr7:137687600-137693400	Weak transcription	Brain Substantia Nigra	brain
9	chr7:137687600-137693400	Weak transcription	Fetal Muscle Leg	muscle
10	chr7:137687600-137693800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr7:137687800-137693400	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr7:137687800-137693400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr7:137687800-137693400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr7:137687800-137693400	Weak transcription	Adipose Nuclei	Adipose
15	chr7:137687800-137693400	Weak transcription	Liver	Liver
16	chr7:137687800-137693400	Weak transcription	Brain Anterior Caudate	brain
17	chr7:137687800-137693400	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr7:137687800-137693400	Weak transcription	A549	lung
19	chr7:137687800-137693400	Weak transcription	Hela-S3	cervix
20	chr7:137687800-137693600	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr7:137687800-137694000	Weak transcription	HMEC	breast
22	chr7:137688000-137692800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr7:137688000-137693200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr7:137688000-137693400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr7:137688000-137693400	Weak transcription	GM12878-XiMat	blood
26	chr7:137688000-137693400	Weak transcription	K562	blood
27	chr7:137688000-137699600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr7:137688000-137703800	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr7:137688800-137693400	Weak transcription	Fetal Intestine Large	intestine
30	chr7:137688800-137693400	Weak transcription	HepG2	liver
31	chr7:137689400-137693000	Weak transcription	Spleen	Spleen
32	chr7:137689600-137692000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr7:137690000-137693400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr7:137690000-137693400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr7:137690400-137692600	Enhancers	Placenta	Placenta
36	chr7:137691000-137693200	Weak transcription	NHDF-Ad	bronchial
37	chr7:137691000-137693400	Weak transcription	Osteobl	bone
38	chr7:137691400-137693400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr7:137691400-137693400	Weak transcription	NHLF	lung
40	chr7:137691400-137694400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr7:137691600-137693400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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