Variant report

Variant	rs554077076
Chromosome Location	chr11:57418094-57418095
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	NRF1	chr11:57417471-57418095	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr11:57415752-57418166	H1-neurons	neurons:	n/a	n/a
3	POLR2A	chr11:57416150-57418100	H1-neurons	neurons:	n/a	n/a
4	POLR2A	chr11:57411937-57420676	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr11:57410796-57421100	H1-hESC	embryonic stem cell:	n/a	n/a
6	ATF2	chr11:57417296-57418126	H1-hESC	embryonic stem cell:	n/a	n/a
7	PBX3	chr11:57414093-57418151	SK-N-SH	brain:	n/a	chr11:57415576-57415585
8	POLR2A	chr11:57412052-57419760	MCF10A-Er-Src	breast:	n/a	n/a
9	POLR2A	chr11:57404829-57418710	PFSK-1	brain:	n/a	n/a
10	POLR2A	chr11:57410821-57420904	H1-hESC	embryonic stem cell:	n/a	n/a
11	REST	chr11:57415812-57418215	H1-neurons	neurons:	n/a	chr11:57416867-57416880 chr11:57416879-57416892 chr11:57415863-57415871 chr11:57417025-57417038 chr11:57416863-57416883
12	POLR2A	chr11:57417265-57420354	H1-hESC	embryonic stem cell:	n/a	n/a
13	MAZ	chr11:57416322-57418147	IMR90	lung:	n/a	chr11:57417022-57417032
14	CHD2	chr11:57413968-57418190	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr11:57412961-57418210	MCF10A-Er-Src	breast:	n/a	n/a
16	POLR2A	chr11:57412201-57418679	ECC-1	luminal epithelium:	n/a	n/a
17	POLR2A	chr11:57417400-57418213	SK-N-MC	brain:	n/a	n/a
18	POLR2A	chr11:57414193-57418271	A549	lung:	n/a	n/a
19	POLR2A	chr11:57417273-57418639	H1-hESC	embryonic stem cell:	n/a	n/a
20	PBX3	chr11:57417269-57418116	A549	lung:	n/a	n/a
21	BCL3	chr11:57414037-57418152	A549	lung:	n/a	chr11:57415102-57415111 chr11:57416249-57416262 chr11:57417016-57417025
22	POLR2A	chr11:57412861-57418587	ECC-1	luminal epithelium:	n/a	n/a
23	POLR2A	chr11:57409804-57420281	PFSK-1	brain:	n/a	n/a
24	POLR2A	chr11:57415000-57418123	IMR90	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:57416509..57419295-chr11:57509568..57512318,2	K562	blood:
2	chr11:57414343..57418921-chr11:57423216..57427343,7	K562	blood:
3	chr11:57417074..57418991-chr11:57424889..57426673,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZDHHC5-1	chr11:57417771-57418205	ENSG00000254602.1
2	lnc-ZDHHC5-1	chr11:57417771-57418182	ENSG00000254602.1
3	lnc-ZDHHC5-1	chr11:57417771-57420263	ENSG00000254602.1
4	lnc-ZDHHC5-1	chr11:57417771-57418248	ENSG00000254602.1
5	lnc-ZDHHC5-1	chr11:57417771-57418286	ENSG00000254602.1

Variant related genes	Relation type
YPEL4	TF binding region
ENSG00000254732	Chromatin interaction
ENSG00000172409	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

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	nsv1044030	chr11:57073395-58035564	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
2	nsv541047	chr11:57073395-58035564	Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
3	nsv530621	chr11:57139699-57703639	Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
4	nsv832163	chr11:57299354-57481050	Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
5	nsv1040913	chr11:57315006-57696122	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
6	nsv832164	chr11:57407617-57578825	Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
7	esv992553	chr11:57408294-57419351	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	37 gene(s)	inside rSNPs	diseases
8	esv3425337	chr11:57416201-57418749	Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	esv3417959	chr11:57416576-57418524	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:57413600-57418200	Enhancers	HMEC	breast
2	chr11:57415200-57418200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr11:57416200-57418400	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr11:57416600-57418200	Bivalent Enhancer	Fetal Heart	heart
5	chr11:57417200-57418200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr11:57417200-57418200	Bivalent Enhancer	Fetal Thymus	thymus
7	chr11:57417200-57418600	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr11:57417200-57418600	Bivalent Enhancer	Fetal Muscle Leg	muscle
9	chr11:57417200-57418600	Enhancers	K562	blood
10	chr11:57417400-57418200	Flanking Active TSS	Brain Germinal Matrix	brain
11	chr11:57417400-57418400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr11:57417400-57418800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr11:57417600-57418200	Flanking Active TSS	H1 Cell Line	embryonic stem cell
14	chr11:57417600-57418200	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
15	chr11:57417600-57418200	Bivalent Enhancer	Colon Smooth Muscle	Colon
16	chr11:57417600-57418400	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
17	chr11:57417600-57418800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr11:57417800-57418200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
19	chr11:57417800-57418200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr11:57417800-57418200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr11:57417800-57418200	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
22	chr11:57417800-57418200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr11:57417800-57418200	Enhancers	Primary monocytes fromperipheralblood	blood
24	chr11:57417800-57418200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
25	chr11:57417800-57418200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
26	chr11:57417800-57418200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
27	chr11:57417800-57418200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
28	chr11:57417800-57418200	Enhancers	Brain Cingulate Gyrus	brain
29	chr11:57417800-57418200	Enhancers	Placenta	Placenta
30	chr11:57417800-57418200	Bivalent Enhancer	Dnd41	blood
31	chr11:57417800-57418400	Enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr11:57417800-57418400	Enhancers	Thymus	Thymus
33	chr11:57417800-57418600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr11:57417800-57419800	Weak transcription	Ovary	ovary
35	chr11:57417800-57420200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr11:57417800-57420200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr11:57417800-57424600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr11:57417800-57424600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr11:57418000-57418200	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
40	chr11:57418000-57418200	Enhancers	Primary hematopoietic stem cells	blood
41	chr11:57418000-57418200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr11:57418000-57418200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr11:57418000-57418200	Enhancers	Brain Hippocampus Middle	brain
44	chr11:57418000-57418200	Enhancers	Fetal Brain Male	brain
45	chr11:57418000-57418200	Enhancers	Fetal Brain Female	brain
46	chr11:57418000-57418200	Weak transcription	NH-A	brain
47	chr11:57418000-57418400	Active TSS	HUES6 Cell Line	embryonic stem cell
48	chr11:57418000-57418600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr11:57418000-57418600	Enhancers	iPS-15b Cell Line	embryonic stem cell
50	chr11:57418000-57418600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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