Variant report

Variant	rs548889138
Chromosome Location	chr11:67374858-67374859
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:26)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:26 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	STAT1	chr11:67374011-67374923	GM12878	blood:	n/a	chr11:67374219-67374227
2	POLR2A	chr11:67373825-67375129	SK-N-MC	brain:	n/a	n/a
3	CREB1	chr11:67373971-67374931	K562	blood:	n/a	n/a
4	SRF	chr11:67373906-67374863	HCT-116	colon:	n/a	n/a
5	SIN3AK20	chr11:67373967-67374935	MCF-7	breast:	n/a	n/a
6	HCFC1	chr11:67373665-67375116	Hela-S3	cervix:	n/a	n/a
7	REST	chr11:67373725-67374961	H1-neurons	neurons:	n/a	n/a
8	POLR2A	chr11:67373173-67374974	K562	blood:	n/a	n/a
9	POLR2A	chr11:67373817-67374934	HepG2	liver:	n/a	n/a
10	MAZ	chr11:67373564-67375313	IMR90	lung:	n/a	n/a
11	ESRRA	chr11:67373576-67375515	GM12878	blood:	n/a	n/a
12	MTA3	chr11:67373680-67374970	GM12878	blood:	n/a	n/a
13	SREBP1	chr11:67373800-67375166	GM12878	blood:	n/a	n/a
14	GATA3	chr11:67373838-67374863	A549	lung:	n/a	n/a
15	NR2F2	chr11:67373876-67374940	K562	blood:	n/a	n/a
16	CTCF	chr11:67373580-67375018	SK-N-SH	brain:	n/a	chr11:67374212-67374225 chr11:67374388-67374404 chr11:67374299-67374312
17	POLR2A	chr11:67373150-67374968	K562	blood:	n/a	n/a
18	POLR2A	chr11:67373804-67374920	PFSK-1	brain:	n/a	n/a
19	MXI1	chr11:67373721-67375390	IMR90	lung:	n/a	n/a
20	POLR2A	chr11:67374008-67374959	K562	blood:	n/a	n/a
21	GABPA	chr11:67373836-67375058	MCF-7	breast:	n/a	n/a
22	WRNIP1	chr11:67374570-67374981	GM12878	blood:	n/a	n/a
23	CREB1	chr11:67373900-67374881	GM12878	blood:	n/a	n/a
24	CREB1	chr11:67373969-67374870	H1-hESC	embryonic stem cell:	n/a	n/a
25	ELF1	chr11:67373515-67374946	GM12878	blood:	n/a	n/a
26	MXI1	chr11:67373626-67375381	SK-N-SH	brain:	n/a	n/a

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:67370584..67375680-chr11:67395595..67400853,11	MCF-7	breast:
2	chr11:67274110..67276658-chr11:67374314..67376513,2	K562	blood:
3	chr11:67272696..67275492-chr11:67373280..67375901,2	MCF-7	breast:
4	chr11:67373358..67378331-chr11:67393882..67398214,7	MCF-7	breast:
5	chr11:67157842..67160719-chr11:67374445..67376408,2	MCF-7	breast:
6	chr11:67347575..67355744-chr11:67372717..67376912,13	K562	blood:
7	chr11:67351259..67353873-chr11:67373020..67375265,2	MCF-7	breast:
8	chr11:67342418..67343049-chr11:67374587..67375122,2	MCF-7	breast:
9	chr11:67271788..67274805-chr11:67372108..67375948,3	K562	blood:
10	chr11:62620807..62623183-chr11:67373400..67376083,2	MCF-7	breast:
11	chr11:67347249..67355748-chr11:67372717..67377095,16	K562	blood:
12	chr11:67250506..67252570-chr11:67374037..67375559,2	K562	blood:
13	chr11:67372725..67386378-chr11:67392399..67400639,29	K562	blood:
14	chr11:67371375..67376389-chr11:67395488..67399117,10	K562	blood:

No data

Variant related genes	Relation type
C11orf72	TF binding region
NDUFV1	TF binding region
ENSG00000167797	Chromatin interaction
ENSG00000255318	Chromatin interaction
ENSG00000110711	Chromatin interaction
ENSG00000167799	Chromatin interaction
ENSG00000255717	Chromatin interaction
ENSG00000084207	Chromatin interaction
ENSG00000172613	Chromatin interaction
ENSG00000110697	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:34 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531397	chr11:66653381-67465721	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	271 gene(s)	inside rSNPs	diseases
2	nsv897801	chr11:67033076-67432479	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	236 gene(s)	inside rSNPs	diseases
3	nsv897807	chr11:67155210-67414492	Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer 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	176 gene(s)	inside rSNPs	diseases
4	nsv897808	chr11:67155210-67419855	Flanking Active TSS Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	176 gene(s)	inside rSNPs	diseases
5	nsv534229	chr11:67164667-67411909	Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	175 gene(s)	inside rSNPs	diseases
6	esv2422195	chr11:67234322-67626901	Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	146 gene(s)	inside rSNPs	diseases
7	nsv1041988	chr11:67319916-67749246	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
8	nsv897814	chr11:67339949-67460529	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
9	nsv1050463	chr11:67343421-67717338	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
10	nsv1038189	chr11:67345320-67749246	Transcr. at gene 5' and 3' Active TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
11	nsv1047236	chr11:67345320-67764068	Bivalent Enhancer Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
12	nsv555268	chr11:67346743-67752972	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
13	nsv1036101	chr11:67346813-67828351	Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	139 gene(s)	inside rSNPs	diseases
14	nsv541079	chr11:67346813-67828351	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	139 gene(s)	inside rSNPs	diseases
15	nsv897815	chr11:67347595-67408791	Enhancers Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
16	nsv1053811	chr11:67349444-67749246	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
17	esv1817852	chr11:67349899-67626567	Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Weak transcription Bivalent Enhancer 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 target site	69 gene(s)	inside rSNPs	diseases
18	nsv468606	chr11:67352689-67816936	Active TSS Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
19	nsv555269	chr11:67352689-67816936	Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
20	nsv897816	chr11:67353579-67460529	Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
21	nsv1041887	chr11:67357365-67464893	Flanking Active TSS Genic enhancers Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
22	nsv541080	chr11:67357365-67464893	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
23	nsv529452	chr11:67358204-67465721	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer 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	49 gene(s)	inside rSNPs	diseases
24	nsv492253	chr11:67358204-67574402	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
25	nsv1043487	chr11:67360899-67662476	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	71 gene(s)	inside rSNPs	diseases
26	nsv897817	chr11:67372477-67414492	Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
27	nsv897818	chr11:67372477-67419855	Active TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
28	nsv468607	chr11:67372477-67423892	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer 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	46 gene(s)	inside rSNPs	diseases
29	nsv555270	chr11:67372477-67423892	Enhancers Active TSS Flanking Active TSS Genic enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
30	nsv897819	chr11:67372477-67426797	Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
31	nsv468608	chr11:67372477-67433869	Genic enhancers Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
32	nsv555271	chr11:67372477-67433869	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
33	nsv897820	chr11:67372477-67460529	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
34	nsv934248	chr11:67374045-67375874	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 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	chr11:67373600-67375000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr11:67373600-67375000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
3	chr11:67373600-67375200	Active TSS	H9 Cell Line	embryonic stem cell
4	chr11:67373600-67375400	Active TSS	iPS-15b Cell Line	embryonic stem cell
5	chr11:67373600-67375600	Active TSS	HUES64 Cell Line	embryonic stem cell
6	chr11:67373600-67375600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
7	chr11:67373800-67375000	Active TSS	Muscle Satellite Cultured Cells	--
8	chr11:67373800-67375000	Active TSS	Aorta	Aorta
9	chr11:67373800-67375000	Active TSS	Fetal Intestine Large	intestine
10	chr11:67373800-67375000	Active TSS	Fetal Kidney	kidney
11	chr11:67373800-67375000	Active TSS	Gastric	stomach
12	chr11:67373800-67375000	Active TSS	Left Ventricle	heart
13	chr11:67373800-67375000	Active TSS	Sigmoid Colon	Sigmoid Colon
14	chr11:67373800-67375000	Bivalent/Poised TSS	HepG2	liver
15	chr11:67373800-67375000	Active TSS	HSMM	muscle
16	chr11:67373800-67375200	Active TSS	iPS-18 Cell Line	embryonic stem cell
17	chr11:67373800-67375200	Flanking Active TSS	Primary B cells from cord blood	blood
18	chr11:67373800-67375200	Active TSS	Small Intestine	intestine
19	chr11:67373800-67375400	Active TSS	iPS-20b Cell Line	embryonic stem cell
20	chr11:67373800-67375400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
21	chr11:67373800-67375400	Active TSS	Pancreatic Islets	Pancreatic Islet
22	chr11:67373800-67375600	Active TSS	A549	lung
23	chr11:67374000-67375000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr11:67374000-67375000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr11:67374000-67375000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr11:67374000-67375000	Active TSS	Breast Myoepithelial Primary Cells	Breast
27	chr11:67374000-67375000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr11:67374000-67375000	Active TSS	Colon Smooth Muscle	Colon
29	chr11:67374000-67375000	Active TSS	Fetal Heart	heart
30	chr11:67374000-67375000	Active TSS	Fetal Intestine Small	intestine
31	chr11:67374000-67375000	Active TSS	GM12878-XiMat	blood
32	chr11:67374000-67375000	Active TSS	HMEC	breast
33	chr11:67374000-67375200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr11:67374000-67375400	Active TSS	ES-I3 Cell Line	embryonic stem cell
35	chr11:67374000-67375400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr11:67374000-67375400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
37	chr11:67374000-67375400	Active TSS	Right Atrium	heart
38	chr11:67374000-67375400	Active TSS	NHDF-Ad	bronchial
39	chr11:67374000-67375600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr11:67374200-67375000	Active TSS	H1 Cell Line	embryonic stem cell
41	chr11:67374200-67375000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr11:67374200-67375000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr11:67374200-67375000	Active TSS	NH-A	brain
44	chr11:67374200-67375200	Active TSS	HUES6 Cell Line	embryonic stem cell
45	chr11:67374200-67375200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr11:67374200-67375200	Active TSS	K562	blood
47	chr11:67374200-67375400	Active TSS	HUES48 Cell Line	embryonic stem cell
48	chr11:67374200-67375800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr11:67374400-67375000	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
50	chr11:67374400-67375000	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links