Variant report

Variant	rs571718519
Chromosome Location	chr3:196361127-196361128
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	TBL1XR1	chr3:196360882-196361479	GM12878	blood:	n/a	n/a
2	POLR2A	chr3:196358486-196362153	NB4	blood:	n/a	n/a
3	CHD2	chr3:196360562-196361500	GM12878	blood:	n/a	n/a
4	NFIC	chr3:196361030-196361478	GM12878	blood:	n/a	n/a
5	POU2F2	chr3:196361003-196361550	GM12878	blood:	n/a	chr3:196361312-196361324 chr3:196361133-196361145
6	POLR2A	chr3:196360370-196361159	GM12892	blood:	n/a	n/a
7	EGR1	chr3:196360849-196361230	K562	blood:	n/a	chr3:196361141-196361151 chr3:196361139-196361153 chr3:196361141-196361150 chr3:196361140-196361153 chr3:196361139-196361154 chr3:196361140-196361153 chr3:196361140-196361153
8	MTA3	chr3:196360242-196361605	GM12878	blood:	n/a	n/a
9	IRF4	chr3:196361060-196361505	GM12878	blood:	n/a	n/a
10	ATF2	chr3:196361091-196361518	GM12878	blood:	n/a	n/a
11	MAX	chr3:196360563-196361457	NB4	blood:	n/a	chr3:196361330-196361339 chr3:196360809-196360816
12	EBF1	chr3:196361072-196361457	GM12878	blood:	n/a	n/a
13	MAX	chr3:196360463-196361133	K562	blood:	n/a	chr3:196360809-196360816
14	NFATC1	chr3:196361111-196361511	GM12878	blood:	n/a	n/a
15	ELF1	chr3:196360425-196361536	GM12878	blood:	n/a	chr3:196360981-196360994
16	SP1	chr3:196361047-196361480	GM12878	blood:	n/a	chr3:196361139-196361148 chr3:196361133-196361142 chr3:196361138-196361148 chr3:196361137-196361149
17	POLR2A	chr3:196360374-196361484	GM12878	blood:	n/a	n/a
18	MYC	chr3:196360680-196361369	K562	blood:	n/a	chr3:196361330-196361339 chr3:196360809-196360816
19	EGR1	chr3:196361038-196361369	GM12878	blood:	n/a	chr3:196361220-196361234 chr3:196361141-196361151 chr3:196361225-196361232 chr3:196361139-196361153 chr3:196361141-196361150 chr3:196361140-196361153 chr3:196361139-196361154 chr3:196361140-196361153 chr3:196361140-196361153
20	POLR2A	chr3:196360307-196361160	H1-hESC	embryonic stem cell:	n/a	n/a
21	STAT5A	chr3:196361117-196361502	GM12878	blood:	n/a	chr3:196361290-196361301 chr3:196361129-196361141
22	ELF1	chr3:196360789-196361143	K562	blood:	n/a	chr3:196360981-196360994
23	POLR2A	chr3:196358547-196361460	GM12892	blood:	n/a	n/a
24	IRF4	chr3:196360975-196361486	GM12878	blood:	n/a	n/a
25	RELA	chr3:196360976-196361533	GM12878	blood:	n/a	chr3:196361370-196361379 chr3:196361370-196361379
26	NFIC	chr3:196360977-196361644	GM12878	blood:	n/a	n/a
27	POLR2A	chr3:196360291-196362194	HL-60	blood:	n/a	n/a
28	PAX5	chr3:196360951-196361519	GM12878	blood:	n/a	chr3:196360985-196360994
29	EBF1	chr3:196360752-196361476	GM12878	blood:	n/a	n/a
30	POLR2A	chr3:196360275-196361624	HL-60	blood:	n/a	n/a
31	POLR2A	chr3:196360255-196361494	GM12878	blood:	n/a	n/a
32	BCL11A	chr3:196361095-196361444	GM12878	blood:	n/a	chr3:196361290-196361299
33	PML	chr3:196361026-196361610	GM12878	blood:	n/a	n/a
34	MAX	chr3:196360776-196361502	GM12878	blood:	n/a	chr3:196361330-196361339 chr3:196360809-196360816
35	POLR2A	chr3:196360426-196361475	GM19193	blood:	n/a	n/a
36	PAX5	chr3:196361113-196361473	GM12878	blood:	n/a	n/a
37	POLR2A	chr3:196358282-196361457	GM12891	blood:	n/a	n/a
38	POLR2A	chr3:196360304-196361180	GM12891	blood:	n/a	n/a
39	RELA	chr3:196361125-196361532	GM12892	blood:	n/a	chr3:196361370-196361379 chr3:196361370-196361379
40	BCLAF1	chr3:196361123-196361444	GM12878	blood:	n/a	chr3:196361290-196361299
41	MAZ	chr3:196361117-196361537	GM12878	blood:	n/a	chr3:196361330-196361339
42	TCF12	chr3:196361049-196361520	GM12878	blood:	n/a	chr3:196361323-196361330
43	SPI1	chr3:196360497-196361734	GM12878	blood:	n/a	chr3:196361290-196361299 chr3:196360987-196361000
44	RELA	chr3:196361119-196361562	GM18951	blood:	n/a	chr3:196361370-196361379 chr3:196361370-196361379
45	EGR1	chr3:196361095-196361324	GM12878	blood:	n/a	chr3:196361220-196361234 chr3:196361141-196361151 chr3:196361225-196361232 chr3:196361139-196361153 chr3:196361141-196361150 chr3:196361140-196361153 chr3:196361139-196361154 chr3:196361140-196361153 chr3:196361140-196361153
46	MYC	chr3:196360378-196361481	NB4	blood:	n/a	chr3:196361330-196361339 chr3:196360809-196360816
47	RELA	chr3:196360388-196361840	GM12891	blood:	n/a	chr3:196361370-196361379 chr3:196361370-196361379
48	POLR2A	chr3:196360371-196361198	K562	blood:	n/a	n/a
49	RUNX3	chr3:196360675-196361555	GM12878	blood:	n/a	n/a
50	STAT5A	chr3:196360994-196361521	GM12878	blood:	n/a	chr3:196361290-196361301 chr3:196361129-196361141

No.	Distal block	Cell Line	Cell type
1	chr3:196359722..196361449-chr3:196369958..196371504,2	MCF-7	breast:
2	chr14:30396875..30399384-chr3:196359205..196361217,2	MCF-7	breast:
3	chr3:196293733..196296360-chr3:196359092..196361282,2	MCF-7	breast:
4	chr3:196312738..196315414-chr3:196359776..196362202,2	K562	blood:
5	chr3:196360616..196362488-chr3:196400415..196403548,3	K562	blood:

Variant related genes	Relation type
LINC01063	TF binding region
ENSG00000184304	Chromatin interaction
ENSG00000185798	Chromatin interaction
ENSG00000174013	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	nsv1003066	chr3:196098763-196414159	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv948681	chr3:196148055-197007546	Weak transcription Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
3	nsv1014692	chr3:196242249-196531824	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
4	nsv878187	chr3:196245603-196554790	Enhancers ZNF genes & repeats Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
5	nsv491864	chr3:196263064-196468533	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
6	nsv829828	chr3:196268121-196463641	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
7	nsv1010643	chr3:196288064-196788645	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
8	nsv878188	chr3:196312124-196553867	Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
9	nsv1003135	chr3:196348721-196738953	Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
10	esv3396603	chr3:196360505-196362903	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:196359600-196362200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr3:196359800-196361200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
3	chr3:196359800-196361200	Flanking Active TSS	Primary hematopoietic stem cells	blood
4	chr3:196359800-196361400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
5	chr3:196359800-196361400	Flanking Active TSS	Primary B cells from cord blood	blood
6	chr3:196359800-196361400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr3:196359800-196362200	Flanking Active TSS	Fetal Thymus	thymus
8	chr3:196359800-196362200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
9	chr3:196360000-196361400	Enhancers	Primary T killer memory cells from peripheral blood	blood
10	chr3:196360000-196362000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
11	chr3:196360000-196363000	Weak transcription	NHDF-Ad	bronchial
12	chr3:196360000-196366200	Weak transcription	Esophagus	oesophagus
13	chr3:196360200-196361200	Enhancers	H1 Cell Line	embryonic stem cell
14	chr3:196360200-196361200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr3:196360200-196361200	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr3:196360200-196361400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr3:196360200-196361400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
18	chr3:196360200-196361400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr3:196360200-196361400	Enhancers	HepG2	liver
20	chr3:196360200-196361800	Enhancers	Fetal Muscle Trunk	muscle
21	chr3:196360200-196362000	Enhancers	Fetal Muscle Leg	muscle
22	chr3:196360200-196362000	Enhancers	Spleen	Spleen
23	chr3:196360200-196362200	Enhancers	Primary T helper cells PMA-I stimulated	--
24	chr3:196360200-196362400	Enhancers	Primary T cells fromperipheralblood	blood
25	chr3:196360200-196363000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr3:196360200-196366000	Weak transcription	Right Atrium	heart
27	chr3:196360200-196366200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr3:196360200-196366200	Weak transcription	Right Ventricle	heart
29	chr3:196360400-196361200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr3:196360400-196361400	Flanking Active TSS	Thymus	Thymus
31	chr3:196360400-196361400	Flanking Active TSS	K562	blood
32	chr3:196360400-196362000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
33	chr3:196360400-196362400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr3:196360400-196365600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
35	chr3:196360400-196365600	Weak transcription	Brain Substantia Nigra	brain
36	chr3:196360400-196365800	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr3:196360600-196361200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr3:196360600-196361400	Enhancers	Stomach Smooth Muscle	stomach
39	chr3:196360600-196361600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr3:196360600-196362200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr3:196360600-196365600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr3:196360600-196365800	Weak transcription	Brain Hippocampus Middle	brain
43	chr3:196360800-196361200	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr3:196360800-196361600	Enhancers	Primary T cells from cord blood	blood
45	chr3:196360800-196361800	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr3:196360800-196362200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
47	chr3:196360800-196362200	Flanking Active TSS	Dnd41	blood
48	chr3:196360800-196363200	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr3:196360800-196365600	Weak transcription	Brain Germinal Matrix	brain
50	chr3:196360800-196365600	Weak transcription	Duodenum Smooth Muscle	Duodenum

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