Variant report

Variant	rs557957892
Chromosome Location	chr19:56184967-56184968
allele	A/G
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	chr19:56184696-56185425	SK-N-MC	brain:	n/a	n/a
2	E2F6	chr19:56184824-56185171	K562	blood:	n/a	chr19:56184870-56184879 chr19:56185021-56185032
3	MYC	chr19:56184850-56185142	K562	blood:	n/a	n/a
4	POLR2A	chr19:56184848-56185403	GM12878	blood:	n/a	n/a
5	POLR2A	chr19:56184816-56185261	GM12892	blood:	n/a	n/a
6	POLR2A	chr19:56184958-56185049	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr19:56184849-56186152	HL-60	blood:	n/a	n/a
8	E2F6	chr19:56184820-56185124	K562	blood:	n/a	chr19:56184870-56184879 chr19:56185021-56185032
9	YY1	chr19:56184854-56185079	K562	blood:	n/a	chr19:56184949-56184968
10	BHLHE40	chr19:56184825-56185165	K562	blood:	n/a	n/a
11	POLR2A	chr19:56184702-56185534	PANC-1	pancreas:	n/a	n/a
12	MYC	chr19:56184836-56185302	K562	blood:	n/a	chr19:56185192-56185202
13	POLR2A	chr19:56184853-56185396	K562	blood:	n/a	n/a
14	MAX	chr19:56184818-56185157	K562	blood:	n/a	n/a
15	POLR2A	chr19:56184749-56185401	K562	blood:	n/a	n/a
16	CHD2	chr19:56184914-56185121	K562	blood:	n/a	n/a
17	CBX3	chr19:56184780-56185447	K562	blood:	n/a	chr19:56185123-56185134
18	POLR2A	chr19:56184892-56185406	GM12891	blood:	n/a	n/a
19	ZBTB7A	chr19:56184796-56185884	K562	blood:	n/a	n/a
20	POLR2A	chr19:56184814-56185241	GM12892	blood:	n/a	n/a
21	HCFC1	chr19:56184961-56185108	K562	blood:	n/a	n/a
22	POLR2A	chr19:56184790-56185480	PANC-1	pancreas:	n/a	n/a
23	POLR2A	chr19:56184896-56185122	K562	blood:	n/a	n/a
24	MAX	chr19:56184875-56185132	K562	blood:	n/a	n/a
25	MAX	chr19:56184737-56185432	K562	blood:	n/a	chr19:56185192-56185202
26	E2F6	chr19:56184849-56185141	K562	blood:	n/a	chr19:56184870-56184879 chr19:56185021-56185032
27	EGR1	chr19:56184845-56185055	K562	blood:	n/a	n/a
28	ZBTB7A	chr19:56184893-56185982	K562	blood:	n/a	n/a
29	MAZ	chr19:56184916-56185833	K562	blood:	n/a	chr19:56185192-56185202
30	YY1	chr19:56184867-56185063	K562	blood:	n/a	chr19:56184949-56184968
31	POLR2A	chr19:56184811-56185416	K562	blood:	n/a	n/a
32	POLR2A	chr19:56184841-56185473	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:56164666..56171824-chr19:56183341..56192911,16	MCF-7	breast:
2	chr19:55986321..55989143-chr19:56184299..56186966,2	K562	blood:
3	chr19:56182120..56185364-chr19:56187275..56191666,5	MCF-7	breast:
4	chr19:56114907..56116947-chr19:56184542..56187154,2	K562	blood:
5	chr19:56171886..56172422-chr19:56184594..56185375,2	K562	blood:
6	chr19:56172205..56174377-chr19:56183143..56185111,2	MCF-7	breast:

Variant related genes	Relation type
EPN1	TF binding region
ENSG00000063244	Chromatin interaction
ENSG00000197483	Chromatin interaction
ENSG00000063245	Chromatin interaction
ENSG00000269859	Chromatin interaction
ENSG00000261221	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv912487	chr19:55977909-56215184	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
2	nsv912494	chr19:56026072-56215184	Genic enhancers Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
3	nsv912498	chr19:56041848-56215184	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
4	nsv912501	chr19:56093365-56215184	Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
5	nsv428026	chr19:56130849-56423514	Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	82 gene(s)	inside rSNPs	diseases
6	nsv833882	chr19:56158633-56326564	Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
7	nsv1061024	chr19:56167101-56217359	Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
8	esv3406564	chr19:56184365-56186913	Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:56170200-56185200	Strong transcription	Fetal Thymus	thymus
2	chr19:56170200-56185400	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr19:56170200-56185800	Strong transcription	Fetal Stomach	stomach
4	chr19:56170400-56185600	Strong transcription	Primary neutrophils fromperipheralblood	blood
5	chr19:56170400-56185800	Strong transcription	Fetal Brain Female	brain
6	chr19:56170800-56185400	Strong transcription	Rectal Mucosa Donor 29	rectum
7	chr19:56170800-56185800	Weak transcription	Psoas Muscle	Psoas
8	chr19:56170800-56186000	Weak transcription	Right Atrium	heart
9	chr19:56171400-56185000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr19:56171400-56185400	Strong transcription	Primary monocytes fromperipheralblood	blood
11	chr19:56172000-56185000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr19:56172200-56185000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
13	chr19:56172600-56186000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr19:56175400-56185600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr19:56175800-56186000	Weak transcription	Fetal Kidney	kidney
16	chr19:56178000-56185800	Weak transcription	HSMMtube	muscle
17	chr19:56178600-56185800	Weak transcription	Fetal Brain Male	brain
18	chr19:56179800-56185000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr19:56179800-56185400	Strong transcription	NHEK	skin
20	chr19:56180200-56185600	Genic enhancers	Dnd41	blood
21	chr19:56181600-56185800	Genic enhancers	Liver	Liver
22	chr19:56181800-56185400	Strong transcription	GM12878-XiMat	blood
23	chr19:56182000-56185200	Strong transcription	Primary T helper cells fromperipheralblood	blood
24	chr19:56182000-56185200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr19:56182000-56185200	Strong transcription	Fetal Muscle Trunk	muscle
26	chr19:56182000-56185200	Strong transcription	Fetal Muscle Leg	muscle
27	chr19:56182000-56185400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr19:56182000-56185600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr19:56182000-56185600	Weak transcription	HSMM	muscle
30	chr19:56182000-56185800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr19:56182000-56185800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr19:56182000-56185800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr19:56182000-56185800	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr19:56182000-56185800	Strong transcription	Fetal Intestine Large	intestine
35	chr19:56182000-56185800	Strong transcription	Fetal Intestine Small	intestine
36	chr19:56182000-56185800	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr19:56182000-56185800	Weak transcription	Stomach Mucosa	stomach
38	chr19:56182000-56185800	Strong transcription	Thymus	Thymus
39	chr19:56182000-56185800	Weak transcription	HMEC	breast
40	chr19:56182000-56185800	Weak transcription	NHDF-Ad	bronchial
41	chr19:56182000-56186000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr19:56182000-56186000	Weak transcription	Left Ventricle	heart
43	chr19:56182200-56185000	Strong transcription	Primary B cells from peripheral blood	blood
44	chr19:56182200-56185000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
45	chr19:56182200-56185200	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr19:56182200-56185400	Strong transcription	Duodenum Mucosa	Duodenum
47	chr19:56182200-56185600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr19:56182200-56185600	Genic enhancers	A549	lung
49	chr19:56182200-56185800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr19:56182200-56185800	Weak transcription	Placenta Amnion	Placenta Amnion

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