Variant report

Variant	rs571389930
Chromosome Location	chr15:74708336-74708337
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	chr15:74702401-74714587	U87	brain:	n/a	n/a
2	POLR2A	chr15:74698747-74718413	GM18505	blood:	n/a	n/a
3	POLR2A	chr15:74708270-74709433	GM12892	blood:	n/a	n/a
4	POLR2A	chr15:74705107-74713921	GM12878	blood:	n/a	n/a
5	POLR2A	chr15:74705339-74712358	GM19193	blood:	n/a	n/a
6	POLR2A	chr15:74705261-74716689	GM18951	blood:	n/a	n/a
7	POLR2A	chr15:74708257-74709270	GM12878	blood:	n/a	n/a
8	POLR2A	chr15:74705345-74709768	GM12892	blood:	n/a	n/a
9	STAT5A	chr15:74705979-74709099	GM12878	blood:	n/a	chr15:74706024-74706032 chr15:74706731-74706743
10	POLR2A	chr15:74705128-74710349	GM12878	blood:	n/a	n/a
11	POLR2A	chr15:74702282-74710077	GM12878	blood:	n/a	n/a
12	POLR2A	chr15:74697925-74718369	GM12891	blood:	n/a	n/a
13	POLR2A	chr15:74698793-74725579	GM12878	blood:	n/a	n/a
14	STAT5A	chr15:74707815-74708818	GM12878	blood:	n/a	n/a
15	POLR2A	chr15:74705167-74718408	GM12892	blood:	n/a	n/a
16	POLR2A	chr15:74707041-74715765	GM15510	blood:	n/a	n/a
17	POLR2A	chr15:74708226-74708430	K562	blood:	n/a	n/a
18	POLR2A	chr15:74705256-74714581	U87	brain:	n/a	n/a
19	POLR2A	chr15:74707044-74710960	GM18526	blood:	n/a	n/a
20	POLR2A	chr15:74706838-74710220	GM12878	blood:	n/a	n/a
21	POLR2A	chr15:74707510-74709634	GM12892	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:74703939..74707088-chr15:74707597..74710860,4	K562	blood:
2	chr15:74706547..74708360-chr15:74715336..74717632,2	K562	blood:
3	chr15:74689719..74694435-chr15:74706184..74713253,9	MCF-7	breast:

Variant related genes	Relation type
SEMA7A	TF binding region
ENSG00000138623	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428641	chr15:74555113-74724630	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases
2	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
3	nsv904352	chr15:74638965-74715205	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
4	nsv904353	chr15:74697084-74716609	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA	4 gene(s)	inside rSNPs	diseases
5	nsv904354	chr15:74697084-74722924	Enhancers Genic enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region miRNA	4 gene(s)	inside rSNPs	diseases
6	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
7	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
8	nsv569974	chr15:74701200-74727113	Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA	11 gene(s)	inside rSNPs	diseases
9	esv3327912	chr15:74706599-74710797	Genic enhancers Strong transcription Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
10	nsv904357	chr15:74707993-74716609	Enhancers Genic enhancers Transcr. at gene 5' and 3' Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:74696200-74710400	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr15:74696200-74711400	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr15:74696200-74712600	Weak transcription	Right Atrium	heart
4	chr15:74696400-74712200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr15:74696800-74709400	Weak transcription	Left Ventricle	heart
6	chr15:74697000-74712400	Weak transcription	Fetal Heart	heart
7	chr15:74697000-74712600	Weak transcription	Fetal Lung	lung
8	chr15:74699600-74716600	Weak transcription	Fetal Kidney	kidney
9	chr15:74700000-74713800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr15:74700200-74708400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr15:74700200-74708400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr15:74700200-74711200	Weak transcription	Fetal Intestine Large	intestine
13	chr15:74700400-74710800	Weak transcription	Ovary	ovary
14	chr15:74700600-74712200	Weak transcription	Fetal Brain Male	brain
15	chr15:74700800-74712400	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr15:74701000-74708400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr15:74701200-74714600	Genic enhancers	Spleen	Spleen
18	chr15:74701400-74712600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr15:74701600-74709200	Strong transcription	NHLF	lung
20	chr15:74701600-74709600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr15:74702000-74710800	Strong transcription	Brain Germinal Matrix	brain
22	chr15:74702000-74712400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr15:74702200-74710800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr15:74702200-74710800	Strong transcription	Placenta Amnion	Placenta Amnion
25	chr15:74702200-74715000	Weak transcription	Colonic Mucosa	Colon
26	chr15:74702400-74708600	Weak transcription	Right Ventricle	heart
27	chr15:74702400-74709200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr15:74702400-74710400	Strong transcription	HUES6 Cell Line	embryonic stem cell
29	chr15:74702400-74711000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr15:74702400-74711200	Strong transcription	Fetal Stomach	stomach
31	chr15:74702600-74710400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr15:74702600-74711000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr15:74702600-74712200	Strong transcription	NHEK	skin
34	chr15:74702800-74709200	Strong transcription	HUES64 Cell Line	embryonic stem cell
35	chr15:74702800-74709600	Weak transcription	Adipose Nuclei	Adipose
36	chr15:74702800-74712200	Weak transcription	Pancreas	Pancrea
37	chr15:74703000-74710800	Strong transcription	HepG2	liver
38	chr15:74703200-74712600	Weak transcription	Duodenum Mucosa	Duodenum
39	chr15:74703200-74713000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr15:74703800-74713000	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr15:74704000-74708600	Weak transcription	Rectal Smooth Muscle	rectum
42	chr15:74704000-74708600	Weak transcription	NHDF-Ad	bronchial
43	chr15:74704400-74710800	Strong transcription	K562	blood
44	chr15:74704600-74711200	Weak transcription	Liver	Liver
45	chr15:74705200-74709000	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr15:74705200-74712800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
47	chr15:74705400-74710400	Strong transcription	Primary T helper cells PMA-I stimulated	--
48	chr15:74705800-74709400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
49	chr15:74705800-74711200	Strong transcription	Fetal Brain Female	brain
50	chr15:74705800-74711400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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