Variant report

Variant	rs558279221
Chromosome Location	chr11:74951920-74951921
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	REST	chr11:74951784-74953454	H1-neurons	neurons:	n/a	chr11:74953370-74953383 chr11:74952124-74952137 chr11:74952148-74952161 chr11:74952066-74952076 chr11:74952103-74952116
2	SIN3A	chr11:74951461-74953278	H1-hESC	embryonic stem cell:	n/a	chr11:74952307-74952320 chr11:74951502-74951516 chr11:74952067-74952076
3	MAX	chr11:74951783-74953204	HepG2	liver:	n/a	chr11:74951796-74951806 chr11:74951919-74951929
4	EGR1	chr11:74951462-74952218	K562	blood:	n/a	chr11:74951660-74951674 chr11:74951660-74951673 chr11:74951660-74951673 chr11:74952078-74952089 chr11:74952073-74952095 chr11:74952077-74952090 chr11:74951663-74951672 chr11:74951660-74951673 chr11:74952077-74952090 chr11:74951663-74951673 chr11:74952076-74952091 chr11:74952079-74952089 chr11:74952077-74952090 chr11:74951660-74951673 chr11:74952080-74952090 chr11:74952077-74952091 chr11:74952080-74952089 chr11:74952077-74952090 chr11:74952079-74952089 chr11:74951746-74951756 chr11:74951881-74951891 chr11:74951876-74951889 chr11:74951659-74951674
5	ZBTB7A	chr11:74951460-74952155	ECC-1	luminal epithelium:	n/a	n/a
6	EGR1	chr11:74951876-74952227	K562	blood:	n/a	chr11:74952078-74952089 chr11:74952073-74952095 chr11:74952077-74952090 chr11:74952077-74952090 chr11:74952076-74952091 chr11:74952079-74952089 chr11:74952077-74952090 chr11:74952080-74952090 chr11:74952077-74952091 chr11:74952080-74952089 chr11:74952077-74952090 chr11:74952079-74952089 chr11:74951881-74951891 chr11:74951876-74951889
7	ZBTB7A	chr11:74951642-74952127	K562	blood:	n/a	n/a
8	CTBP2	chr11:74951385-74953406	H1-hESC	embryonic stem cell:	n/a	n/a
9	MAZ	chr11:74951524-74953220	IMR90	lung:	n/a	chr11:74951796-74951806 chr11:74951919-74951929
10	MXI1	chr11:74951164-74953261	SK-N-SH	brain:	n/a	n/a
11	HMGN3	chr11:74951622-74953344	K562	blood:	n/a	n/a
12	ZBTB7A	chr11:74951529-74952193	ECC-1	luminal epithelium:	n/a	n/a
13	CCNT2	chr11:74951808-74953252	K562	blood:	n/a	chr11:74951881-74951890
14	YY1	chr11:74951858-74953046	HepG2	liver:	n/a	chr11:74952142-74952151 chr11:74952097-74952111 chr11:74951881-74951890 chr11:74952355-74952364 chr11:74952441-74952455

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:74660462..74662157-chr11:74951131..74952954,2	K562	blood:

Variant related genes	Relation type
TPBGL	TF binding region
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:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:74951000-74952200	Enhancers	Spleen	Spleen
2	chr11:74951000-74953200	Active TSS	Brain Anterior Caudate	brain
3	chr11:74951000-74953400	Active TSS	Brain Angular Gyrus	brain
4	chr11:74951000-74953600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
5	chr11:74951200-74952000	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr11:74951200-74952000	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
7	chr11:74951200-74952600	Active TSS	Brain Inferior Temporal Lobe	brain
8	chr11:74951400-74952000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
9	chr11:74951400-74952000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
10	chr11:74951400-74952000	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
11	chr11:74951400-74952000	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
12	chr11:74951400-74952000	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
13	chr11:74951400-74952000	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
14	chr11:74951400-74952000	Bivalent Enhancer	Fetal Brain Male	brain
15	chr11:74951400-74952000	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
16	chr11:74951400-74952200	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
17	chr11:74951400-74952200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr11:74951400-74952200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr11:74951400-74952200	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
20	chr11:74951400-74952200	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
21	chr11:74951400-74952400	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
22	chr11:74951400-74952400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr11:74951400-74952400	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
24	chr11:74951400-74952600	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr11:74951400-74952800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr11:74951400-74952800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr11:74951400-74952800	Flanking Bivalent TSS/Enh	Primary mononuclear cells fromperipheralblood	Blood
28	chr11:74951400-74953000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
29	chr11:74951400-74953200	Bivalent/Poised TSS	NHEK	skin
30	chr11:74951400-74953400	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr11:74951400-74953400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
32	chr11:74951400-74953400	Active TSS	Pancreatic Islets	Pancreatic Islet
33	chr11:74951400-74953400	Active TSS	Right Atrium	heart
34	chr11:74951400-74953600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
35	chr11:74951400-74953600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr11:74951400-74953600	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr11:74951400-74953600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
38	chr11:74951400-74953600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
39	chr11:74951400-74953600	Enhancers	Liver	Liver
40	chr11:74951600-74952000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
41	chr11:74951600-74952000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
42	chr11:74951600-74952000	Bivalent/Poised TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr11:74951600-74952000	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr11:74951600-74952000	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr11:74951600-74952000	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
46	chr11:74951600-74952000	Bivalent Enhancer	Placenta	Placenta
47	chr11:74951600-74952000	Active TSS	Pancreas	Pancrea
48	chr11:74951600-74952000	Flanking Bivalent TSS/Enh	Psoas Muscle	Psoas
49	chr11:74951600-74952000	Bivalent Enhancer	NH-A	brain
50	chr11:74951600-74952200	Enhancers	Primary T killer naive cells fromperipheralblood	blood

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