Variant report

Variant	rs188310398
Chromosome Location	chr11:74953418-74953419
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	MYC	chr11:74952294-74953531	A549	lung:	n/a	n/a
2	REST	chr11:74951784-74953454	H1-neurons	neurons:	n/a	chr11:74953370-74953383 chr11:74952124-74952137 chr11:74952148-74952161 chr11:74952066-74952076 chr11:74952103-74952116
3	E2F6	chr11:74951959-74953483	K562	blood:	n/a	chr11:74952080-74952090 chr11:74952355-74952364 chr11:74952329-74952338 chr11:74953362-74953374 chr11:74952505-74952517
4	E2F6	chr11:74952022-74953660	H1-hESC	embryonic stem cell:	n/a	chr11:74952080-74952090 chr11:74952355-74952364 chr11:74952329-74952338 chr11:74953362-74953374 chr11:74952505-74952517
5	CTCF	chr11:74951921-74953536	SK-N-SH	brain:	n/a	chr11:74952029-74952038 chr11:74952349-74952362 chr11:74952351-74952361 chr11:74952174-74952187
6	E2F6	chr11:74952084-74953718	H1-hESC	embryonic stem cell:	n/a	chr11:74952355-74952364 chr11:74952329-74952338 chr11:74953362-74953374 chr11:74952505-74952517
7	CTCF	chr11:74952289-74953637	A549	lung:	n/a	chr11:74952349-74952362 chr11:74952351-74952361
8	RCOR1	chr11:74952484-74953651	IMR90	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:74953050..74955146-chr11:75048496..75050415,2	K562	blood:
2	chr11:74920713..74922645-chr11:74953043..74955609,2	MCF-7	breast:
3	chr11:74640083..74642436-chr11:74952777..74954746,3	MCF-7	breast:
4	chr11:74952768..74954538-chr11:74955270..74959114,3	K562	blood:
5	chr11:74659830..74661713-chr11:74952303..74954332,2	MCF-7	breast:
6	chr11:74855244..74856442-chr11:74952713..74953475,5	MCF-7	breast:
7	chr11:74657727..74660130-chr11:74951983..74953797,2	K562	blood:

Variant related genes	Relation type
ENSG00000255136	TF binding region
ENSG00000166435	Chromatin interaction
ENSG00000118363	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	nsv1049887	chr11:74937977-75040438	Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv1036292	chr11:74937977-75059496	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	65 gene(s)	inside rSNPs	diseases
3	nsv1041640	chr11:74945824-75174688	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	94 gene(s)	inside rSNPs	diseases
4	nsv832211	chr11:74945839-75106125	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	66 gene(s)	inside rSNPs	diseases
5	esv3338705	chr11:74950304-74954802	Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	esv3357620	chr11:74951054-74954252	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	esv3416910	chr11:74951204-74954302	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	esv3322804	chr11:74951829-74954677	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 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	chr11:74951000-74953600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
2	chr11:74951400-74953600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
3	chr11:74951400-74953600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr11:74951400-74953600	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr11:74951400-74953600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
6	chr11:74951400-74953600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
7	chr11:74951400-74953600	Enhancers	Liver	Liver
8	chr11:74951600-74953600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
9	chr11:74951800-74953600	Bivalent/Poised TSS	HSMM	muscle
10	chr11:74952000-74953600	Bivalent/Poised TSS	Brain Germinal Matrix	brain
11	chr11:74952200-74953600	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr11:74952400-74953600	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr11:74952600-74953600	Active TSS	Hela-S3	cervix
14	chr11:74953000-74953600	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
15	chr11:74953000-74953600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
16	chr11:74953000-74953600	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
17	chr11:74953000-74953600	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
18	chr11:74953000-74953600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr11:74953000-74953600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr11:74953000-74953600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr11:74953000-74953600	Bivalent Enhancer	Fetal Intestine Small	intestine
22	chr11:74953000-74953600	Bivalent Enhancer	Fetal Thymus	thymus
23	chr11:74953000-74953600	Flanking Bivalent TSS/Enh	Right Ventricle	heart
24	chr11:74953000-74953600	Flanking Active TSS	HMEC	breast
25	chr11:74953000-74953800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
26	chr11:74953000-74953800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
27	chr11:74953000-74953800	Bivalent Enhancer	Placenta	Placenta
28	chr11:74953200-74953600	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr11:74953200-74953600	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr11:74953200-74953600	Enhancers	Primary T helper naive cells from peripheral blood	blood
31	chr11:74953200-74953600	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
32	chr11:74953200-74953600	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr11:74953200-74953600	Bivalent Enhancer	Colonic Mucosa	Colon
34	chr11:74953200-74953600	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
35	chr11:74953200-74953600	Bivalent Enhancer	Fetal Brain Male	brain
36	chr11:74953200-74953600	Enhancers	Gastric	stomach
37	chr11:74953200-74953600	Bivalent Enhancer	Rectal Smooth Muscle	rectum
38	chr11:74953200-74953600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
39	chr11:74953200-74953600	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
40	chr11:74953200-74953600	Bivalent Enhancer	Spleen	Spleen
41	chr11:74953400-74953600	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
42	chr11:74953400-74953600	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr11:74953400-74953600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr11:74953400-74953600	Bivalent/Poised TSS	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr11:74953400-74953600	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
46	chr11:74953400-74953600	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
47	chr11:74953400-74953600	Flanking Bivalent TSS/Enh	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr11:74953400-74953600	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr11:74953400-74953600	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr11:74953400-74953600	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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