Variant report

Variant	rs7162280
Chromosome Location	chr15:74727377-74727378
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	POLR2A	chr15:74725952-74727569	K562	blood:	n/a	n/a
2	POLR2A	chr15:74725725-74727896	PBDE	blood:	n/a	n/a
3	JUN	chr15:74725587-74727671	K562	blood:	n/a	chr15:74726927-74726939 chr15:74726027-74726036 chr15:74727593-74727604
4	POLR2A	chr15:74727353-74727532	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:74724949..74728351-chr15:74752030..74754909,4	K562	blood:
2	chr15:74720298..74721801-chr15:74727091..74728921,2	MCF-7	breast:
3	chr15:74724949..74727531-chr15:74752948..74755543,2	K562	blood:
4	chr15:74724666..74727655-chr15:74741238..74745335,3	MCF-7	breast:
5	chr15:74665092..74667430-chr15:74726842..74729796,2	K562	blood:
6	chr15:74666968..74670060-chr15:74726920..74730762,3	K562	blood:

Variant related genes	Relation type
SEMA7A	TF binding region
ENSG00000138629	Chromatin interaction
ENSG00000247240	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10468059	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11856442	1.00[EUR][1000 genomes]
rs12102046	1.00[EUR][1000 genomes]
rs191588	1.00[AMR][1000 genomes]
rs2028166	1.00[EUR][1000 genomes]
rs2629730	1.00[AMR][1000 genomes]
rs28455057	1.00[EUR][1000 genomes]
rs34439749	1.00[EUR][1000 genomes]
rs351162	1.00[EUR][1000 genomes]
rs351198	1.00[AMR][1000 genomes]
rs351200	1.00[AMR][1000 genomes]
rs351212	1.00[AMR][1000 genomes]
rs4987132	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv482615	chr15:74593625-74757962	Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription 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	58 gene(s)	inside rSNPs	diseases
2	nsv904355	chr15:74697084-74728149	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA	11 gene(s)	inside rSNPs	diseases
3	nsv904356	chr15:74697084-74729603	Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA	11 gene(s)	inside rSNPs	diseases
4	nsv904360	chr15:74709071-74728149	Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
5	nsv904364	chr15:74709975-74728149	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
6	nsv904367	chr15:74710125-74728149	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
7	nsv904368	chr15:74711122-74728149	Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
8	nsv542433	chr15:74714265-74745033	Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
9	nsv904371	chr15:74719249-74731330	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:74726200-74736800	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr15:74726400-74727400	Flanking Active TSS	GM12878-XiMat	blood
3	chr15:74726400-74728200	Enhancers	Spleen	Spleen
4	chr15:74726400-74737200	Weak transcription	Hela-S3	cervix
5	chr15:74726800-74727400	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr15:74726800-74727400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
7	chr15:74726800-74727400	Enhancers	Brain Inferior Temporal Lobe	brain
8	chr15:74726800-74727400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
9	chr15:74726800-74727400	Enhancers	Placenta Amnion	Placenta Amnion
10	chr15:74726800-74727600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr15:74726800-74727600	Enhancers	Primary T killer memory cells from peripheral blood	blood
12	chr15:74726800-74727600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr15:74726800-74727600	Bivalent Enhancer	Fetal Muscle Leg	muscle
14	chr15:74726800-74727600	Enhancers	HepG2	liver
15	chr15:74726800-74727800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr15:74726800-74727800	Enhancers	Placenta	Placenta
17	chr15:74726800-74727800	Bivalent Enhancer	Fetal Stomach	stomach
18	chr15:74726800-74728200	Enhancers	Primary B cells from cord blood	blood
19	chr15:74726800-74728600	Enhancers	Primary B cells from peripheral blood	blood
20	chr15:74726800-74728800	Enhancers	Fetal Brain Male	brain
21	chr15:74726800-74729000	Enhancers	Primary hematopoietic stem cells	blood
22	chr15:74726800-74729000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr15:74726800-74730600	Weak transcription	NHEK	skin
24	chr15:74726800-74730800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr15:74726800-74730800	Weak transcription	HMEC	breast
26	chr15:74726800-74736800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr15:74726800-74737400	Weak transcription	Esophagus	oesophagus
28	chr15:74726800-74738600	Weak transcription	Fetal Lung	lung
29	chr15:74726800-74740200	Weak transcription	A549	lung
30	chr15:74726800-74752800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr15:74727000-74727400	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
32	chr15:74727000-74727400	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
33	chr15:74727000-74727400	Enhancers	Primary neutrophils fromperipheralblood	blood
34	chr15:74727000-74727400	Enhancers	Osteobl	bone
35	chr15:74727000-74727600	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr15:74727000-74727600	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr15:74727000-74727600	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
38	chr15:74727000-74727600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr15:74727000-74727600	Enhancers	Brain Germinal Matrix	brain
40	chr15:74727000-74727800	Enhancers	Primary T cells fromperipheralblood	blood
41	chr15:74727000-74727800	Active TSS	Primary T helper cells PMA-I stimulated	--
42	chr15:74727000-74728600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
43	chr15:74727000-74729000	Enhancers	Primary hematopoietic stem cells short term culture	blood
44	chr15:74727000-74729200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr15:74727000-74731200	Enhancers	K562	blood
46	chr15:74727000-74734400	Weak transcription	Pancreas	Pancrea
47	chr15:74727000-74736600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr15:74727000-74736600	Weak transcription	Right Atrium	heart
49	chr15:74727000-74736800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr15:74727000-74736800	Weak transcription	Colon Smooth Muscle	Colon

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