Variant report

Variant	rs7174651
Chromosome Location	chr15:41069305-41069306
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:37)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:37 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	USF1	chr15:41068928-41069419	ECC-1	luminal epithelium:	n/a	n/a
2	MAX	chr15:41068976-41069372	Hela-S3	cervix:	n/a	n/a
3	FOXA1	chr15:41068895-41069351	T-47D	breast:	n/a	n/a
4	MAX	chr15:41068980-41069325	Hela-S3	cervix:	n/a	n/a
5	NFIC	chr15:41068748-41069530	ECC-1	luminal epithelium:	n/a	n/a
6	POLR2A	chr15:41069231-41069369	Gliobla	brain:	n/a	n/a
7	EGR1	chr15:41068801-41069344	MCF-7	breast:	n/a	n/a
8	EP300	chr15:41068677-41069656	ECC-1	luminal epithelium:	n/a	n/a
9	FOS	chr15:41069018-41069310	MCF10A-Er-Src	breast:	n/a	n/a
10	MAX	chr15:41068767-41069508	MCF-7	breast:	n/a	chr15:41068948-41068958
11	FOS	chr15:41069014-41069310	MCF10A-Er-Src	breast:	n/a	n/a
12	MYC	chr15:41068945-41069502	MCF10A-Er-Src	breast:	n/a	chr15:41068948-41068958
13	EP300	chr15:41068876-41069457	T-47D	breast:	n/a	n/a
14	MYC	chr15:41068992-41069546	MCF10A-Er-Src	breast:	n/a	n/a
15	EP300	chr15:41068819-41069504	ECC-1	luminal epithelium:	n/a	n/a
16	CHD2	chr15:41069091-41069316	Hela-S3	cervix:	n/a	n/a
17	TEAD4	chr15:41068817-41069541	ECC-1	luminal epithelium:	n/a	n/a
18	MYC	chr15:41068946-41069369	MCF-7	breast:	n/a	chr15:41068948-41068958
19	RAD21	chr15:41069052-41069320	Hela-S3	cervix:	n/a	n/a
20	MXI1	chr15:41068753-41069559	IMR90	lung:	n/a	n/a
21	MYC	chr15:41068921-41069360	MCF-7	breast:	n/a	chr15:41068948-41068958
22	TCF12	chr15:41068645-41069462	ECC-1	luminal epithelium:	n/a	chr15:41069396-41069403
23	POLR2A	chr15:41068887-41069420	ECC-1	luminal epithelium:	n/a	n/a
24	NR3C1	chr15:41068946-41069408	ECC-1	luminal epithelium:	n/a	n/a
25	FOXA1	chr15:41068954-41069326	T-47D	breast:	n/a	n/a
26	GATA3	chr15:41068897-41069331	T-47D	breast:	n/a	n/a
27	CEBPB	chr15:41068855-41069415	ECC-1	luminal epithelium:	n/a	n/a
28	TCF12	chr15:41068739-41069523	ECC-1	luminal epithelium:	n/a	chr15:41069396-41069403
29	GATA3	chr15:41068885-41069389	T-47D	breast:	n/a	n/a
30	MAX	chr15:41068719-41069488	MCF-7	breast:	n/a	chr15:41068948-41068958
31	RAD21	chr15:41068892-41069490	ECC-1	luminal epithelium:	n/a	chr15:41068943-41068955
32	FOS	chr15:41069011-41069310	MCF10A-Er-Src	breast:	n/a	n/a
33	EP300	chr15:41068853-41069380	T-47D	breast:	n/a	n/a
34	MAX	chr15:41068562-41069487	ECC-1	luminal epithelium:	n/a	chr15:41068948-41068958
35	MAX	chr15:41068802-41069650	ECC-1	luminal epithelium:	n/a	chr15:41068948-41068958
36	POLR2A	chr15:41069284-41069358	H1-hESC	embryonic stem cell:	n/a	n/a
37	NFIC	chr15:41068766-41069699	ECC-1	luminal epithelium:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:41068398..41070390-chr15:41097835..41100828,2	K562	blood:
2	chr15:41062391..41066610-chr15:41066936..41069911,4	MCF-7	breast:
3	chr15:41037589..41040458-chr15:41068418..41070751,2	K562	blood:
4	chr15:41045896..41050408-chr15:41066208..41069896,5	MCF-7	breast:
5	chr15:41045448..41048031-chr15:41068434..41070678,2	MCF-7	breast:
6	chr15:41069195..41071599-chr15:41075080..41078053,2	MCF-7	breast:
7	chr15:41037003..41039062-chr15:41068615..41070670,2	MCF-7	breast:
8	chr15:41068210..41071185-chr15:41097995..41100691,2	MCF-7	breast:

No data

Variant related genes	Relation type
DNAJC17	TF binding region
ENSG00000104129	Chromatin interaction
ENSG00000137824	Chromatin interaction
ENSG00000166140	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs16971001	1.00[JPT][hapmap];0.91[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2016546	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2301176	1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2898999	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs3784290	1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57096780	1.00[ASN][1000 genomes]
rs57272245	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7175221	1.00[JPT][hapmap];0.82[YRI][hapmap];0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7179899	1.00[JPT][hapmap];0.91[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73398513	1.00[ASN][1000 genomes]
rs73398545	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8025558	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs8029321	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8031526	1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053173	chr15:40933163-41094127	Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	nsv542363	chr15:40933163-41094127	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv904101	chr15:40979651-41275014	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
4	esv1819092	chr15:41017682-41255750	Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
5	nsv904102	chr15:41046883-41201699	Strong transcription Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
6	nsv1054764	chr15:41068625-41196410	Active TSS Strong transcription Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:41057400-41070800	Weak transcription	Psoas Muscle	Psoas
2	chr15:41058600-41072400	Strong transcription	Placenta	Placenta
3	chr15:41059200-41072400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr15:41059800-41072600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr15:41060000-41072800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr15:41062200-41069400	Strong transcription	Aorta	Aorta
7	chr15:41062200-41072600	Strong transcription	Cortex derived primary cultured neurospheres	brain
8	chr15:41062200-41072600	Strong transcription	Fetal Brain Female	brain
9	chr15:41062200-41072600	Strong transcription	Right Ventricle	heart
10	chr15:41062200-41072600	Strong transcription	Stomach Smooth Muscle	stomach
11	chr15:41062200-41072800	Strong transcription	Fetal Stomach	stomach
12	chr15:41062400-41069800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr15:41062400-41072600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr15:41062400-41079400	Weak transcription	Right Atrium	heart
15	chr15:41062600-41072400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr15:41062600-41072600	Strong transcription	Primary neutrophils fromperipheralblood	blood
17	chr15:41062600-41072600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr15:41062600-41072600	Strong transcription	Brain Germinal Matrix	brain
19	chr15:41062600-41079000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr15:41062800-41069400	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr15:41062800-41072600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr15:41062800-41072600	Strong transcription	Spleen	Spleen
23	chr15:41062800-41072600	Strong transcription	Monocytes-CD14+_RO01746	blood
24	chr15:41063000-41072400	Strong transcription	Brain Inferior Temporal Lobe	brain
25	chr15:41063000-41072600	Strong transcription	Primary monocytes fromperipheralblood	blood
26	chr15:41063200-41069400	Strong transcription	Rectal Smooth Muscle	rectum
27	chr15:41063200-41072400	Strong transcription	Sigmoid Colon	Sigmoid Colon
28	chr15:41063400-41071800	Strong transcription	Left Ventricle	heart
29	chr15:41063400-41072400	Strong transcription	Fetal Muscle Trunk	muscle
30	chr15:41063400-41072400	Strong transcription	Pancreas	Pancrea
31	chr15:41063400-41072600	Strong transcription	Colonic Mucosa	Colon
32	chr15:41063600-41072400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr15:41063600-41072600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr15:41063600-41072600	Strong transcription	Rectal Mucosa Donor 29	rectum
35	chr15:41063800-41072200	Strong transcription	Colon Smooth Muscle	Colon
36	chr15:41063800-41072200	Strong transcription	Duodenum Smooth Muscle	Duodenum
37	chr15:41063800-41072600	Strong transcription	Primary T cells from cord blood	blood
38	chr15:41063800-41072600	Strong transcription	Duodenum Mucosa	Duodenum
39	chr15:41064000-41072400	Strong transcription	Primary T helper cells PMA-I stimulated	--
40	chr15:41064000-41072400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr15:41064000-41072400	Strong transcription	Dnd41	blood
42	chr15:41064000-41072600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
43	chr15:41064000-41072600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr15:41064200-41072200	Strong transcription	Brain Hippocampus Middle	brain
45	chr15:41064200-41072400	Strong transcription	Fetal Intestine Large	intestine
46	chr15:41064200-41072400	Strong transcription	Rectal Mucosa Donor 31	rectum
47	chr15:41064200-41072800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr15:41064200-41076200	Strong transcription	Fetal Intestine Small	intestine
49	chr15:41064400-41069400	Strong transcription	iPS-15b Cell Line	embryonic stem cell
50	chr15:41064400-41072000	Strong transcription	HUES48 Cell Line	embryonic stem cell

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