Variant report

Variant	rs7174397
Chromosome Location	chr15:51914192-51914193
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:51895628..51897591-chr15:51913669..51916030,2	MCF-7	breast:
2	chr15:43424880..43427064-chr15:51913097..51915072,2	MCF-7	breast:
3	chr15:51913469..51917109-chr15:52042794..52045514,3	MCF-7	breast:
4	chr15:51895386..51897033-chr15:51913625..51916763,3	K562	blood:
5	chr15:51828885..51831420-chr15:51912654..51914673,2	K562	blood:
6	chr15:51898533..51902972-chr15:51911457..51915866,6	MCF-7	breast:
7	chr15:51893271..51898734-chr15:51911463..51916763,7	K562	blood:
8	chr15:51901451..51903803-chr15:51912032..51914694,2	K562	blood:
9	chr15:51904383..51907963-chr15:51911974..51914714,3	K562	blood:
10	chr15:51913874..51916144-chr15:52165568..52168116,2	MCF-7	breast:
11	chr15:51911576..51916583-chr15:52027382..52031699,5	MCF-7	breast:
12	chr15:51913842..51915651-chr15:52310480..52312908,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000140280	Chromatin interaction
ENSG00000128872	Chromatin interaction
ENSG00000104093	Chromatin interaction
ENSG00000263437	Chromatin interaction
ENSG00000069956	Chromatin interaction
ENSG00000259438	Chromatin interaction
ENSG00000138594	Chromatin interaction
ENSG00000137842	Chromatin interaction
ENSG00000259377	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs1010486	0.98[ASN][1000 genomes]
rs10519310	0.89[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs10519314	0.87[ASN][1000 genomes]
rs10519315	0.87[ASN][1000 genomes]
rs10519316	0.87[ASN][1000 genomes]
rs10519318	0.87[ASN][1000 genomes]
rs10519319	0.87[ASN][1000 genomes]
rs10519320	0.87[ASN][1000 genomes]
rs10519321	0.87[ASN][1000 genomes]
rs16964389	0.84[ASN][1000 genomes]
rs16964465	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs16964476	1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs17648565	1.00[ASN][1000 genomes]
rs17648801	0.87[ASN][1000 genomes]
rs17705035	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2124588	0.87[ASN][1000 genomes]
rs2124589	0.87[ASN][1000 genomes]
rs2124590	0.87[ASN][1000 genomes]
rs2271674	0.87[AMR][1000 genomes]
rs2305709	0.87[ASN][1000 genomes]
rs2305711	0.87[ASN][1000 genomes]
rs2305715	0.87[ASN][1000 genomes]
rs2305719	0.87[ASN][1000 genomes]
rs2622770	0.81[ASN][1000 genomes]
rs3214014	0.87[ASN][1000 genomes]
rs3764220	1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs3765067	0.85[ASN][1000 genomes]
rs3809498	1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs3816544	0.87[ASN][1000 genomes]
rs41286490	0.87[ASN][1000 genomes]
rs41286492	0.85[ASN][1000 genomes]
rs55803403	0.80[ASN][1000 genomes]
rs56127635	0.84[ASN][1000 genomes]
rs57860217	0.80[ASN][1000 genomes]
rs60337239	0.87[ASN][1000 genomes]
rs60437890	1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs60934476	0.87[ASN][1000 genomes]
rs61642433	0.92[ASN][1000 genomes]
rs7163359	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs74013290	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs8023804	1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs8032454	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[ASN][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	nsv471243	chr15:51345485-52018096	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv904219	chr15:51851999-51977159	Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	n/a
3	nsv457139	chr15:51854718-51977159	Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	n/a
4	nsv569407	chr15:51854718-51977159	Flanking Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	n/a
5	nsv569408	chr15:51867172-51946100	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:51906800-51914200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr15:51911400-51915800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr15:51911600-51916000	Active TSS	Brain Inferior Temporal Lobe	brain
4	chr15:51911800-51914400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr15:51912200-51914200	Active TSS	Brain Germinal Matrix	brain
6	chr15:51912600-51914400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr15:51912800-51914200	Active TSS	Primary B cells from cord blood	blood
8	chr15:51912800-51914400	Flanking Active TSS	Dnd41	blood
9	chr15:51912800-51914800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
10	chr15:51912800-51915000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr15:51912800-51915400	Active TSS	Primary T cells from cord blood	blood
12	chr15:51912800-51915400	Active TSS	Fetal Brain Female	brain
13	chr15:51912800-51915600	Active TSS	Brain Cingulate Gyrus	brain
14	chr15:51912800-51915800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
15	chr15:51912800-51915800	Active TSS	NHLF	lung
16	chr15:51912800-51916600	Active TSS	Rectal Mucosa Donor 29	rectum
17	chr15:51913000-51914200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr15:51913000-51914400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
19	chr15:51913000-51914400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
20	chr15:51913000-51914600	Active TSS	Right Atrium	heart
21	chr15:51913000-51914800	Flanking Active TSS	Primary hematopoietic stem cells	blood
22	chr15:51913000-51915400	Active TSS	HUES6 Cell Line	embryonic stem cell
23	chr15:51913000-51915600	Active TSS	Duodenum Mucosa	Duodenum
24	chr15:51913000-51915800	Active TSS	ES-I3 Cell Line	embryonic stem cell
25	chr15:51913000-51915800	Active TSS	Fetal Kidney	kidney
26	chr15:51913000-51916200	Active TSS	Pancreatic Islets	Pancreatic Islet
27	chr15:51913200-51915400	Active TSS	K562	blood
28	chr15:51913200-51915600	Active TSS	Fetal Muscle Leg	muscle
29	chr15:51913200-51915600	Active TSS	Thymus	Thymus
30	chr15:51913200-51915800	Active TSS	NHDF-Ad	bronchial
31	chr15:51913400-51914800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr15:51913400-51915400	Active TSS	Primary monocytes fromperipheralblood	blood
33	chr15:51913400-51915600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr15:51913400-51915800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr15:51913400-51915800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr15:51913400-51915800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
37	chr15:51913400-51916000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr15:51913400-51916000	Active TSS	Fetal Brain Male	brain
39	chr15:51913400-51916000	Active TSS	Fetal Intestine Large	intestine
40	chr15:51913600-51914200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
41	chr15:51913600-51914200	Weak transcription	Stomach Mucosa	stomach
42	chr15:51913600-51914200	Flanking Active TSS	NH-A	brain
43	chr15:51913600-51914600	Flanking Active TSS	Adipose Nuclei	Adipose
44	chr15:51913600-51915400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr15:51913600-51915400	Active TSS	GM12878-XiMat	blood
46	chr15:51913600-51915600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr15:51913600-51915600	Active TSS	Brain Angular Gyrus	brain
48	chr15:51913600-51915600	Active TSS	Fetal Adrenal Gland	Adrenal Gland
49	chr15:51913600-51915600	Active TSS	Placenta	Placenta
50	chr15:51913600-51915600	Active TSS	Monocytes-CD14+_RO01746	blood

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