Variant report

Variant	rs547445187
Chromosome Location	chr8:19615644-19615645
allele	G/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	RAD21	chr8:19615185-19615796	Hela-S3	cervix:	n/a	n/a
2	BCL3	chr8:19615141-19615736	A549	lung:	n/a	n/a
3	TCF12	chr8:19614811-19616510	A549	lung:	n/a	n/a
4	RAD21	chr8:19615124-19615814	A549	lung:	n/a	n/a
5	BRCA1	chr8:19615359-19615662	Hela-S3	cervix:	n/a	n/a
6	CEBPB	chr8:19615309-19615707	IMR90	lung:	n/a	n/a
7	CEBPB	chr8:19615304-19615776	K562	blood:	n/a	n/a
8	SMC3	chr8:19615110-19615723	SK-N-SH	brain:	n/a	n/a
9	REST	chr8:19615053-19615771	A549	lung:	n/a	chr8:19615237-19615250
10	ZKSCAN1	chr8:19615223-19615661	Hela-S3	cervix:	n/a	n/a
11	RAD21	chr8:19615124-19615713	H1-hESC	embryonic stem cell:	n/a	n/a
12	USF2	chr8:19615152-19615691	Hela-S3	cervix:	n/a	n/a
13	MAFK	chr8:19615065-19615717	Hela-S3	cervix:	n/a	n/a
14	MAX	chr8:19612923-19615860	A549	lung:	n/a	chr8:19614299-19614306
15	RAD21	chr8:19615255-19615762	A549	lung:	n/a	n/a
16	REST	chr8:19615230-19615729	A549	lung:	n/a	chr8:19615237-19615250
17	MAX	chr8:19614905-19615797	A549	lung:	n/a	n/a
18	RCOR1	chr8:19615042-19615739	Hela-S3	cervix:	n/a	n/a
19	MAX	chr8:19615206-19615654	NB4	blood:	n/a	n/a
20	RAD21	chr8:19615170-19615653	H1-hESC	embryonic stem cell:	n/a	n/a
21	GTF2F1	chr8:19615184-19615926	Hela-S3	cervix:	n/a	n/a
22	CEBPB	chr8:19615298-19616422	A549	lung:	n/a	n/a
23	RAD21	chr8:19615049-19615793	SK-N-SH	brain:	n/a	n/a
24	POLR2A	chr8:19613998-19615650	A549	lung:	n/a	n/a
25	POLR2A	chr8:19614445-19615897	IMR90	lung:	n/a	n/a
26	CTCF	chr8:19615220-19615728	K562	blood:	n/a	chr8:19615513-19615526
27	JUND	chr8:19615292-19615664	K562	blood:	n/a	n/a
28	TCF7L2	chr8:19615137-19615784	Hela-S3	cervix:	n/a	n/a
29	CTCF	chr8:19614525-19615704	SK-N-SH	brain:	n/a	chr8:19614729-19614742 chr8:19615513-19615526 chr8:19614661-19614674
30	SMC3	chr8:19615041-19615736	Hela-S3	cervix:	n/a	n/a
31	TBP	chr8:19615042-19615655	Hela-S3	cervix:	n/a	n/a
32	POLR2A	chr8:19615147-19615670	Hela-S3	cervix:	n/a	n/a
33	CTCF	chr8:19615219-19615691	A549	lung:	n/a	chr8:19615513-19615526
34	CEBPB	chr8:19615237-19615822	A549	lung:	n/a	n/a
35	MYC	chr8:19615301-19615846	MCF10A-Er-Src	breast:	n/a	n/a
36	CEBPB	chr8:19615274-19615789	MCF-7	breast:	n/a	n/a
37	POLR2A	chr8:19613788-19615706	Hela-S3	cervix:	n/a	n/a
38	YY1	chr8:19615273-19615659	A549	lung:	n/a	n/a
39	EP300	chr8:19615199-19616170	A549	lung:	n/a	chr8:19615523-19615539
40	SP1	chr8:19615051-19615783	A549	lung:	n/a	n/a
41	CHD2	chr8:19613887-19615748	Hela-S3	cervix:	n/a	n/a
42	CTCF	chr8:19614272-19616595	A549	lung:	n/a	chr8:19614729-19614742 chr8:19615513-19615526 chr8:19615938-19615946 chr8:19615985-19615994 chr8:19614487-19614500 chr8:19614446-19614459 chr8:19614661-19614674 chr8:19614443-19614461
43	CTBP2	chr8:19613919-19615780	H1-hESC	embryonic stem cell:	n/a	n/a
44	SMARCB1	chr8:19614035-19615908	Hela-S3	cervix:	n/a	n/a
45	CTCF	chr8:19615620-19615770	AG04449	skin:	n/a	n/a
46	RFX5	chr8:19615254-19615682	Hela-S3	cervix:	n/a	n/a
47	CTCF	chr8:19615520-19615670	GM12878	blood:	n/a	n/a
48	CEBPB	chr8:19615043-19615946	A549	lung:	n/a	n/a
49	MAZ	chr8:19614463-19615654	Hela-S3	cervix:	n/a	n/a
50	CEBPB	chr8:19615310-19615771	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:19497421..19499586-chr8:19613571..19616001,2	MCF-7	breast:
2	chr8:19534323..19537317-chr8:19613839..19616648,2	MCF-7	breast:

Variant related genes	Relation type
CSGALNACT1	TF binding region
ENSG00000253270	Chromatin interaction
ENSG00000147408	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949636	chr8:18957705-19664732	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer 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	18 gene(s)	inside rSNPs	diseases
2	nsv949304	chr8:19199688-19625912	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	nsv890625	chr8:19368697-19799641	Strong transcription Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
4	nsv1021575	chr8:19430653-19623452	Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv1021731	chr8:19515149-19643313	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv610759	chr8:19561997-20068842	Enhancers Strong transcription Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
7	esv3343914	chr8:19613297-19615845	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	esv3443741	chr8:19613697-19616545	Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	esv3417669	chr8:19613772-19616120	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	esv3481472	chr8:19615507-19617552	Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	esv3481473	chr8:19615507-19617552	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:19613000-19616000	Active TSS	Brain Hippocampus Middle	brain
2	chr8:19613200-19615800	Active TSS	Right Atrium	heart
3	chr8:19613200-19616400	Active TSS	Brain Substantia Nigra	brain
4	chr8:19613400-19615800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
5	chr8:19613400-19615800	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
6	chr8:19613600-19615800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr8:19613600-19615800	Active TSS	Duodenum Smooth Muscle	Duodenum
8	chr8:19613600-19615800	Active TSS	Osteobl	bone
9	chr8:19613800-19615800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
10	chr8:19613800-19615800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
11	chr8:19613800-19615800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
12	chr8:19613800-19615800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
13	chr8:19614000-19615800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr8:19614000-19615800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
15	chr8:19614000-19616000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
16	chr8:19614200-19615800	Active TSS	Brain Inferior Temporal Lobe	brain
17	chr8:19614600-19615800	Active TSS	Primary hematopoietic stem cells	blood
18	chr8:19614600-19616000	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
19	chr8:19615000-19615800	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
20	chr8:19615000-19615800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
21	chr8:19615000-19615800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr8:19615000-19615800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr8:19615000-19615800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr8:19615000-19615800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
25	chr8:19615000-19615800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr8:19615000-19615800	Flanking Active TSS	Adipose Nuclei	Adipose
27	chr8:19615000-19615800	Bivalent Enhancer	Fetal Brain Male	brain
28	chr8:19615000-19615800	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
29	chr8:19615000-19616000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
30	chr8:19615000-19616200	Flanking Active TSS	Primary B cells from cord blood	blood
31	chr8:19615200-19615800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr8:19615200-19615800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
33	chr8:19615200-19615800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
34	chr8:19615200-19615800	Flanking Active TSS	Brain Anterior Caudate	brain
35	chr8:19615200-19615800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
36	chr8:19615200-19615800	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
37	chr8:19615200-19615800	Active TSS	Psoas Muscle	Psoas
38	chr8:19615200-19615800	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
39	chr8:19615200-19615800	Flanking Bivalent TSS/Enh	HUVEC	blood vessel
40	chr8:19615200-19616000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
41	chr8:19615200-19616000	Flanking Active TSS	Placenta	Placenta
42	chr8:19615200-19616200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
43	chr8:19615400-19615800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr8:19615400-19615800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr8:19615400-19615800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr8:19615400-19615800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr8:19615400-19615800	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
48	chr8:19615400-19615800	Bivalent/Poised TSS	Fetal Stomach	stomach
49	chr8:19615400-19615800	Flanking Active TSS	Pancreas	Pancrea
50	chr8:19615400-19615800	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links