Variant report

Variant	rs7995045
Chromosome Location	chr13:96348616-96348617
allele	A/G
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	BATF	chr13:96348516-96348806	GM12878	blood:	n/a	n/a
2	TBL1XR1	chr13:96348613-96348649	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr13:96327018..96329777-chr13:96348435..96352062,3	MCF-7	breast:
2	chr13:96347421..96350839-chr13:96352908..96355509,3	K562	blood:
3	chr13:96327692..96330287-chr13:96346205..96350903,4	K562	blood:

Variant related genes	Relation type
MTND6P18	TF binding region
ENSG00000247400	Chromatin interaction
ENSG00000102580	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11619004	0.80[AFR][1000 genomes]
rs2389372	0.80[AFR][1000 genomes]
rs3087339	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6492817	0.93[AFR][1000 genomes]
rs6492819	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7327549	0.87[AFR][1000 genomes]
rs7981593	0.80[AFR][1000 genomes]
rs9302086	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs9561932	0.86[AFR][1000 genomes]
rs9561935	0.81[AFR][1000 genomes]
rs9561948	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9561951	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs9590313	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9590316	0.89[AFR][1000 genomes]
rs9590318	0.88[AFR][1000 genomes]
rs9590321	0.87[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832690	chr13:96330757-96508077	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv974118	chr13:96346708-96351488	Weak transcription ZNF genes & repeats Enhancers Strong transcription	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:96331400-96350600	Weak transcription	Aorta	Aorta
2	chr13:96331400-96362200	Weak transcription	HSMM	muscle
3	chr13:96332400-96360400	Weak transcription	NHDF-Ad	bronchial
4	chr13:96332600-96350200	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr13:96337400-96350400	Weak transcription	Lung	lung
6	chr13:96337600-96350400	Weak transcription	Pancreas	Pancrea
7	chr13:96337600-96350400	Weak transcription	Right Ventricle	heart
8	chr13:96337600-96350400	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr13:96337600-96350400	Weak transcription	Small Intestine	intestine
10	chr13:96337600-96356000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr13:96337600-96358800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr13:96337600-96360800	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr13:96337600-96362200	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr13:96337600-96364200	Weak transcription	Ovary	ovary
15	chr13:96341000-96350600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr13:96341200-96350400	Weak transcription	Psoas Muscle	Psoas
17	chr13:96341200-96350400	Weak transcription	Right Atrium	heart
18	chr13:96342000-96350400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr13:96342000-96350400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr13:96342000-96350600	Weak transcription	Liver	Liver
21	chr13:96342200-96349200	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr13:96345000-96352600	Weak transcription	Primary monocytes fromperipheralblood	blood
23	chr13:96345200-96362200	Weak transcription	Duodenum Mucosa	Duodenum
24	chr13:96346400-96350200	Weak transcription	Fetal Heart	heart
25	chr13:96346600-96350000	ZNF genes & repeats	GM12878-XiMat	blood
26	chr13:96346600-96350600	Weak transcription	Brain Anterior Caudate	brain
27	chr13:96346800-96349600	Weak transcription	Primary neutrophils fromperipheralblood	blood
28	chr13:96347000-96349200	Weak transcription	Adipose Nuclei	Adipose
29	chr13:96347000-96351000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr13:96347000-96377600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr13:96347200-96349000	ZNF genes & repeats	Primary B cells from cord blood	blood
32	chr13:96347400-96350400	Weak transcription	HSMMtube	muscle
33	chr13:96347600-96348800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
34	chr13:96347600-96348800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
35	chr13:96347800-96359400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr13:96348000-96348800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr13:96348200-96350600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr13:96348600-96349000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr13:96348600-96349400	Weak transcription	Fetal Lung	lung
40	chr13:96348600-96350400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr13:96348600-96353000	Weak transcription	Monocytes-CD14+_RO01746	blood
42	chr13:96348600-96360400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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