Variant report

Variant	rs77276998
Chromosome Location	chr11:74951620-74951621
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	SIN3A	chr11:74951461-74953278	H1-hESC	embryonic stem cell:	n/a	chr11:74952307-74952320 chr11:74951502-74951516 chr11:74952067-74952076
2	RCOR1	chr11:74951537-74951831	K562	blood:	n/a	n/a
3	MAX	chr11:74951416-74951649	K562	blood:	n/a	n/a
4	UBTF	chr11:74951587-74951779	K562	blood:	n/a	n/a
5	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
6	USF1	chr11:74951354-74951660	H1-hESC	embryonic stem cell:	n/a	n/a
7	EGR1	chr11:74951473-74951850	H1-hESC	embryonic stem cell:	n/a	chr11:74951660-74951674 chr11:74951660-74951673 chr11:74951660-74951673 chr11:74951663-74951672 chr11:74951660-74951673 chr11:74951663-74951673 chr11:74951660-74951673 chr11:74951746-74951756 chr11:74951659-74951674
8	USF1	chr11:74951355-74951636	H1-hESC	embryonic stem cell:	n/a	n/a
9	E2F6	chr11:74951288-74951860	H1-hESC	embryonic stem cell:	n/a	chr11:74951728-74951737 chr11:74951787-74951796
10	ZBTB7A	chr11:74951460-74952155	ECC-1	luminal epithelium:	n/a	n/a
11	MAZ	chr11:74951599-74951874	K562	blood:	n/a	chr11:74951796-74951806
12	MAX	chr11:74951392-74951814	H1-hESC	embryonic stem cell:	n/a	chr11:74951796-74951806
13	BHLHE40	chr11:74951388-74951751	K562	blood:	n/a	chr11:74951656-74951672
14	MAX	chr11:74951374-74951723	K562	blood:	n/a	n/a
15	MAX	chr11:74951373-74951653	H1-hESC	embryonic stem cell:	n/a	n/a
16	EGR1	chr11:74951493-74951837	K562	blood:	n/a	chr11:74951660-74951674 chr11:74951660-74951673 chr11:74951660-74951673 chr11:74951663-74951672 chr11:74951660-74951673 chr11:74951663-74951673 chr11:74951660-74951673 chr11:74951746-74951756 chr11:74951659-74951674
17	CTBP2	chr11:74951385-74953406	H1-hESC	embryonic stem cell:	n/a	n/a
18	MAZ	chr11:74951524-74953220	IMR90	lung:	n/a	chr11:74951796-74951806 chr11:74951919-74951929
19	MAX	chr11:74951356-74951774	ECC-1	luminal epithelium:	n/a	n/a
20	ZNF263	chr11:74951281-74951764	HEK293-T-REx	kidney:	n/a	chr11:74951566-74951575 chr11:74951603-74951612
21	MXI1	chr11:74951164-74953261	SK-N-SH	brain:	n/a	n/a
22	ZBTB7A	chr11:74951529-74952193	ECC-1	luminal epithelium:	n/a	n/a
23	MAX	chr11:74951258-74951794	H1-hESC	embryonic stem cell:	n/a	n/a

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: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 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

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	chr11:74951200-74951800	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr11:74951200-74952000	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr11:74951200-74952000	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
8	chr11:74951200-74952600	Active TSS	Brain Inferior Temporal Lobe	brain
9	chr11:74951400-74951800	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
10	chr11:74951400-74951800	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
11	chr11:74951400-74951800	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
12	chr11:74951400-74951800	Flanking Bivalent TSS/Enh	Primary T helper memory cells from peripheral blood 1	blood
13	chr11:74951400-74951800	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
14	chr11:74951400-74951800	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
15	chr11:74951400-74951800	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
16	chr11:74951400-74951800	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
17	chr11:74951400-74951800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
18	chr11:74951400-74951800	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
19	chr11:74951400-74951800	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
20	chr11:74951400-74951800	Bivalent Enhancer	Left Ventricle	heart
21	chr11:74951400-74951800	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
22	chr11:74951400-74951800	Flanking Bivalent TSS/Enh	A549	lung
23	chr11:74951400-74951800	Flanking Bivalent TSS/Enh	HUVEC	blood vessel
24	chr11:74951400-74952000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
25	chr11:74951400-74952000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
26	chr11:74951400-74952000	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
27	chr11:74951400-74952000	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
28	chr11:74951400-74952000	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
29	chr11:74951400-74952000	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
30	chr11:74951400-74952000	Bivalent Enhancer	Fetal Brain Male	brain
31	chr11:74951400-74952000	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
32	chr11:74951400-74952200	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
33	chr11:74951400-74952200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr11:74951400-74952200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr11:74951400-74952200	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
36	chr11:74951400-74952200	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
37	chr11:74951400-74952400	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
38	chr11:74951400-74952400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr11:74951400-74952400	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
40	chr11:74951400-74952600	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr11:74951400-74952800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr11:74951400-74952800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr11:74951400-74952800	Flanking Bivalent TSS/Enh	Primary mononuclear cells fromperipheralblood	Blood
44	chr11:74951400-74953000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
45	chr11:74951400-74953200	Bivalent/Poised TSS	NHEK	skin
46	chr11:74951400-74953400	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr11:74951400-74953400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
48	chr11:74951400-74953400	Active TSS	Pancreatic Islets	Pancreatic Islet
49	chr11:74951400-74953400	Active TSS	Right Atrium	heart
50	chr11:74951400-74953600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell

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