Variant report

Variant	rs74012440
Chromosome Location	chr15:49912064-49912065
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	POLR2A	chr15:49911978-49916148	MCF10A-Er-Src	breast:	n/a	n/a
2	GABPA	chr15:49912057-49914243	MCF-7	breast:	n/a	n/a
3	MXI1	chr15:49911990-49915525	SK-N-SH	brain:	n/a	n/a
4	ELF1	chr15:49912056-49914214	MCF-7	breast:	n/a	n/a
5	HCFC1	chr15:49911005-49914797	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr15:49911535-49916197	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:49101837..49104427-chr15:49910988..49914617,3	K562	blood:

Variant related genes	Relation type
DTWD1	TF binding region
FAM227B	TF binding region
ENSG00000103995	Chromatin interaction
ENSG00000259700	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs16962682	1.00[AMR][1000 genomes]
rs16962687	1.00[AMR][1000 genomes]
rs16962690	1.00[AMR][1000 genomes]
rs16962694	1.00[AMR][1000 genomes]
rs16962726	1.00[AMR][1000 genomes]
rs16962736	1.00[AMR][1000 genomes]
rs55820213	1.00[AMR][1000 genomes]
rs55880877	1.00[AMR][1000 genomes]
rs56194958	1.00[AMR][1000 genomes]
rs56365767	1.00[AMR][1000 genomes]
rs57224380	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57402896	1.00[AMR][1000 genomes]
rs58984166	1.00[AMR][1000 genomes]
rs59572993	1.00[AMR][1000 genomes]
rs59606072	1.00[AMR][1000 genomes]
rs60224127	1.00[AMR][1000 genomes]
rs60597223	1.00[AMR][1000 genomes]
rs61575085	1.00[AMR][1000 genomes]
rs61702984	1.00[AMR][1000 genomes]
rs7167875	1.00[AMR][1000 genomes]
rs7170176	1.00[AMR][1000 genomes]
rs74012392	1.00[AMR][1000 genomes]
rs74012429	1.00[AMR][1000 genomes]
rs74012431	1.00[AMR][1000 genomes]
rs74012457	1.00[AMR][1000 genomes]
rs74012459	1.00[AMR][1000 genomes]
rs74012461	1.00[AMR][1000 genomes]
rs74012488	1.00[AMR][1000 genomes]
rs74012489	1.00[AMR][1000 genomes]
rs74012490	1.00[AMR][1000 genomes]
rs74012491	1.00[AMR][1000 genomes]
rs74014148	1.00[AMR][1000 genomes]
rs74014149	1.00[AMR][1000 genomes]
rs74014150	1.00[AMR][1000 genomes]
rs74014340	1.00[AMR][1000 genomes]
rs74014341	1.00[AMR][1000 genomes]
rs74014352	1.00[AMR][1000 genomes]
rs8028992	1.00[AMR][1000 genomes]
rs8033054	1.00[AMR][1000 genomes]
rs8033587	1.00[AMR][1000 genomes]
rs8035218	1.00[AMR][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	nsv569392	chr15:49789413-49926300	ZNF genes & repeats Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	nsv431388	chr15:49835663-49997483	Flanking Active TSS Strong transcription ZNF genes & repeats Weak transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:49896000-49912200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr15:49898200-49912200	Weak transcription	Fetal Stomach	stomach
3	chr15:49898200-49912800	Weak transcription	Esophagus	oesophagus
4	chr15:49907400-49912200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr15:49907400-49912200	Weak transcription	HSMMtube	muscle
6	chr15:49907600-49912200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr15:49907600-49912200	Weak transcription	Fetal Intestine Small	intestine
8	chr15:49907600-49912200	Weak transcription	Thymus	Thymus
9	chr15:49907800-49912200	Weak transcription	Liver	Liver
10	chr15:49908800-49912200	Weak transcription	Fetal Muscle Leg	muscle
11	chr15:49910600-49912200	Enhancers	Rectal Smooth Muscle	rectum
12	chr15:49910600-49912200	Enhancers	HepG2	liver
13	chr15:49910800-49912200	Enhancers	Hela-S3	cervix
14	chr15:49911200-49912200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr15:49911200-49914200	Active TSS	Duodenum Smooth Muscle	Duodenum
16	chr15:49911400-49912200	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr15:49911400-49912200	Enhancers	HMEC	breast
18	chr15:49911400-49912200	Enhancers	Osteobl	bone
19	chr15:49911400-49912600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr15:49911400-49916000	Active TSS	Stomach Smooth Muscle	stomach
21	chr15:49911600-49912200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
22	chr15:49911600-49912200	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr15:49911600-49912200	Enhancers	Brain Substantia Nigra	brain
24	chr15:49911600-49912200	Enhancers	NHEK	skin
25	chr15:49911600-49912400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
26	chr15:49911600-49912400	Enhancers	Primary B cells from peripheral blood	blood
27	chr15:49911600-49912400	Flanking Active TSS	Dnd41	blood
28	chr15:49911600-49912600	Enhancers	Small Intestine	intestine
29	chr15:49911600-49913800	Active TSS	Brain Angular Gyrus	brain
30	chr15:49911600-49914600	Active TSS	iPS-15b Cell Line	embryonic stem cell
31	chr15:49911600-49914600	Active TSS	Right Atrium	heart
32	chr15:49911600-49916600	Active TSS	GM12878-XiMat	blood
33	chr15:49911800-49912200	Active TSS	Brain Anterior Caudate	brain
34	chr15:49911800-49912200	Enhancers	Fetal Intestine Large	intestine
35	chr15:49911800-49912400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr15:49911800-49912400	Enhancers	Primary B cells from cord blood	blood
37	chr15:49911800-49912400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
38	chr15:49911800-49912400	Flanking Active TSS	Fetal Lung	lung
39	chr15:49911800-49912400	Flanking Active TSS	NHLF	lung
40	chr15:49911800-49912600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr15:49911800-49912800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
42	chr15:49911800-49912800	Weak transcription	Left Ventricle	heart
43	chr15:49911800-49912800	Weak transcription	Pancreas	Pancrea
44	chr15:49911800-49914200	Active TSS	Psoas Muscle	Psoas
45	chr15:49911800-49914800	Active TSS	K562	blood
46	chr15:49911800-49915200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr15:49912000-49912200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr15:49912000-49912200	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
49	chr15:49912000-49912200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr15:49912000-49912200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood

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