Variant report

Variant	rs527853349
Chromosome Location	chr11:46354137-46354138
allele	C/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	MYC	chr11:46354069-46354183	H1-hESC	embryonic stem cell:	n/a	n/a
2	PBX3	chr11:46353945-46354569	SK-N-SH	brain:	n/a	chr11:46354235-46354244 chr11:46354257-46354266 chr11:46354112-46354132
3	TEAD4	chr11:46353988-46354366	H1-hESC	embryonic stem cell:	n/a	n/a
4	TEAD4	chr11:46353888-46354367	H1-hESC	embryonic stem cell:	n/a	n/a
5	EGR1	chr11:46353962-46354360	K562	blood:	n/a	chr11:46354135-46354145 chr11:46354134-46354147 chr11:46354133-46354147 chr11:46354135-46354145 chr11:46354135-46354144 chr11:46354134-46354147 chr11:46354292-46354305 chr11:46354134-46354147 chr11:46354134-46354147 chr11:46354131-46354145 chr11:46354133-46354148
6	MAX	chr11:46353944-46355326	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr11:46353944-46355483	H1-neurons	neurons:	n/a	n/a
8	TCF3	chr11:46354112-46354490	GM12878	blood:	n/a	n/a
9	REST	chr11:46353902-46355520	H1-neurons	neurons:	n/a	chr11:46354643-46354656 chr11:46354637-46354650
10	ZBTB7A	chr11:46353909-46354879	ECC-1	luminal epithelium:	n/a	chr11:46354306-46354317
11	EGR1	chr11:46354052-46354253	GM12878	blood:	n/a	chr11:46354135-46354145 chr11:46354134-46354147 chr11:46354133-46354147 chr11:46354135-46354145 chr11:46354135-46354144 chr11:46354134-46354147 chr11:46354134-46354147 chr11:46354134-46354147 chr11:46354131-46354145 chr11:46354133-46354148
12	EGR1	chr11:46353926-46354396	H1-hESC	embryonic stem cell:	n/a	chr11:46354135-46354145 chr11:46354134-46354147 chr11:46354133-46354147 chr11:46354135-46354145 chr11:46354135-46354144 chr11:46354134-46354147 chr11:46354292-46354305 chr11:46354134-46354147 chr11:46354134-46354147 chr11:46354131-46354145 chr11:46354133-46354148
13	POLR2A	chr11:46353935-46355419	H1-neurons	neurons:	n/a	n/a
14	ZBTB7A	chr11:46353870-46355198	ECC-1	luminal epithelium:	n/a	chr11:46354306-46354317
15	EGR1	chr11:46353960-46354340	K562	blood:	n/a	chr11:46354135-46354145 chr11:46354134-46354147 chr11:46354133-46354147 chr11:46354135-46354145 chr11:46354135-46354144 chr11:46354134-46354147 chr11:46354292-46354305 chr11:46354134-46354147 chr11:46354134-46354147 chr11:46354131-46354145 chr11:46354133-46354148
16	EGR1	chr11:46353970-46354331	ECC-1	luminal epithelium:	n/a	chr11:46354135-46354145 chr11:46354134-46354147 chr11:46354133-46354147 chr11:46354135-46354145 chr11:46354135-46354144 chr11:46354134-46354147 chr11:46354292-46354305 chr11:46354134-46354147 chr11:46354134-46354147 chr11:46354131-46354145 chr11:46354133-46354148
17	PBX3	chr11:46354093-46354363	GM12878	blood:	n/a	chr11:46354235-46354244 chr11:46354257-46354266 chr11:46354112-46354132
18	CTBP2	chr11:46353813-46354480	H1-hESC	embryonic stem cell:	n/a	n/a
19	EGR1	chr11:46354056-46354247	GM12878	blood:	n/a	chr11:46354135-46354145 chr11:46354134-46354147 chr11:46354133-46354147 chr11:46354135-46354145 chr11:46354135-46354144 chr11:46354134-46354147 chr11:46354134-46354147 chr11:46354134-46354147 chr11:46354131-46354145 chr11:46354133-46354148
20	MAX	chr11:46354028-46354209	K562	blood:	n/a	n/a
21	ZBTB7A	chr11:46353986-46354442	K562	blood:	n/a	chr11:46354306-46354317
22	SIN3AK20	chr11:46353922-46354377	H1-hESC	embryonic stem cell:	n/a	n/a
23	E2F6	chr11:46353940-46354436	H1-hESC	embryonic stem cell:	n/a	chr11:46354244-46354253 chr11:46354418-46354427
24	TCF12	chr11:46354099-46354350	GM12878	blood:	n/a	chr11:46354154-46354161
25	EBF1	chr11:46354076-46354319	GM12878	blood:	n/a	n/a
26	EGR1	chr11:46353872-46354380	ECC-1	luminal epithelium:	n/a	chr11:46354135-46354145 chr11:46354134-46354147 chr11:46354133-46354147 chr11:46354135-46354145 chr11:46354135-46354144 chr11:46354134-46354147 chr11:46354292-46354305 chr11:46354134-46354147 chr11:46354134-46354147 chr11:46354131-46354145 chr11:46354133-46354148
27	MXI1	chr11:46353985-46354285	H1-hESC	embryonic stem cell:	n/a	n/a
28	SIN3A	chr11:46353932-46355222	H1-hESC	embryonic stem cell:	n/a	chr11:46354411-46354422 chr11:46355132-46355141 chr11:46354643-46354656

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:46354101-46354151	ProgFib	skin:	n/a
2	chr11:46354101-46354151	NHBE	bronchial:	n/a
3	chr11:46354101-46354151	T-47D	breast:	n/a
4	chr11:46354101-46354151	GM12891	blood:	n/a
5	chr11:46354101-46354151	PANC-1	pancreas:	n/a
6	chr11:46354101-46354151	SK-N-MC	brain:	n/a
7	chr11:46354101-46354151	LNCaP	prostate:	n/a
8	chr11:46354101-46354151	SK-N-SH_RA	brain:	n/a
9	chr11:46354101-46354151	ECC-1	luminal epithelium:	n/a
10	chr11:46354101-46354151	AG09319	gingival:	n/a
11	chr11:46354101-46354151	SKMC	muscle:	n/a
12	chr11:46354101-46354151	AG04449	skin:	fetal
13	chr11:46354101-46354151	NT2-D1	testis:	n/a
14	chr11:46354101-46354151	Hepatocyte	liver:	n/a
15	chr11:46354101-46354151	CMK	blood:	n/a
16	chr11:46354101-46354151	A549	lung:	n/a
17	chr11:46354101-46354151	Hela-S3	cervix:	n/a
18	chr11:46354101-46354151	HCM	heart:	n/a
19	chr11:46354101-46354151	BE2_C	brain:	n/a
20	chr11:46354101-46354151	HCF	heart:	n/a
21	chr11:46354101-46354151	Caco-2	colon:	n/a
22	chr11:46354101-46354151	PrEC	prostate:	n/a
23	chr11:46354101-46354151	HEK293	kidney:	embryo
24	chr11:46354101-46354151	HEEpiC	esophagus:	n/a
25	chr11:46354101-46354151	BJ	skin:	n/a
26	chr11:46354101-46354151	HRPEpiC	eye:	n/a
27	chr11:46354101-46354151	K562	blood:	n/a
28	chr11:46354101-46354151	SK-N-SH	brain:	n/a
29	chr11:46354101-46354151	NH-A	brain:	n/a
30	chr11:46354101-46354151	Jurkat	blood:	n/a
31	chr11:46354101-46354151	U87	brain:	n/a
32	chr11:46354101-46354151	HCT-116	colon:	n/a
33	chr11:46354101-46354151	NHDF-neo	bronchial:	n/a
34	chr11:46354101-46354151	HCPEpiC	choroid plexus:	n/a
35	chr11:46354101-46354151	ovcar-3	ovarian:	n/a
36	chr11:46354101-46354151	NB4	blood:	n/a
37	chr11:46354101-46354151	AG09309	skin:	n/a
38	chr11:46354101-46354151	MCF-7	breast:	n/a
39	chr11:46354101-46354151	PFSK-1	brain:	n/a
40	chr11:46354101-46354151	HIPEpiC	eye:	n/a
41	chr11:46354101-46354151	HRE	kidney:	n/a
42	chr11:46354101-46354151	GM12878	blood:	n/a
43	chr11:46354101-46354151	HPAEpiC	pulmonary alveolar:	n/a
44	chr11:46354101-46354151	HUVEC	blood vessel:	n/a
45	chr11:46354101-46354151	HAEpiC	amniotic membrane:	n/a
46	chr11:46354101-46354151	HNPCEpiC	eye:	n/a
47	chr11:46354101-46354151	H1-hESC	embryonic stem cell:	embryo
48	chr11:46354101-46354151	GM19239	blood:	n/a
49	chr11:46354101-46354151	AoSMC	blood vessel:	n/a
50	chr11:46354101-46354151	RPTEC	kidney:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:46334610..46337424-chr11:46352781..46354879,2	K562	blood:
2	chr11:46352485..46355160-chr11:46382549..46384847,2	MCF-7	breast:

Variant related genes	Relation type
DGKZ	TF binding region
DGKZ	CpG island
ENSG00000157613	Chromatin interaction
ENSG00000149091	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	nsv554201	chr11:46281835-46422686	Active TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv825867	chr11:46303184-46425613	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Active TSS 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	21 gene(s)	inside rSNPs	diseases
3	esv1797501	chr11:46315437-46402521	Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
4	esv1811345	chr11:46317062-46438072	Enhancers Bivalent Enhancer Strong transcription Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers 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	22 gene(s)	inside rSNPs	diseases
5	nsv554202	chr11:46334239-46469900	Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Genic enhancers 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	25 gene(s)	inside rSNPs	diseases
6	nsv897316	chr11:46349631-46417815	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
7	esv3345003	chr11:46353526-46356074	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:46349800-46357400	Weak transcription	Hela-S3	cervix
2	chr11:46351200-46354200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
3	chr11:46351600-46354200	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr11:46351600-46354400	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
5	chr11:46351800-46354400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
6	chr11:46352000-46354200	Flanking Active TSS	Primary T cells from cord blood	blood
7	chr11:46352200-46354200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
8	chr11:46352200-46354400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
9	chr11:46352200-46354400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
10	chr11:46352400-46354200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
11	chr11:46352400-46354200	Bivalent Enhancer	Duodenum Mucosa	Duodenum
12	chr11:46352400-46354400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
13	chr11:46352400-46354400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr11:46352600-46354200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
15	chr11:46353000-46354200	Enhancers	Lung	lung
16	chr11:46353200-46354200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
17	chr11:46353200-46354200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
18	chr11:46353200-46356000	Enhancers	Spleen	Spleen
19	chr11:46353600-46354200	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
20	chr11:46353600-46354200	Bivalent Enhancer	Fetal Lung	lung
21	chr11:46353600-46354400	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
22	chr11:46353600-46354400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
23	chr11:46353600-46354800	Bivalent Enhancer	Dnd41	blood
24	chr11:46353600-46355800	Flanking Bivalent TSS/Enh	Primary mononuclear cells fromperipheralblood	Blood
25	chr11:46353800-46354200	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
26	chr11:46353800-46354200	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
27	chr11:46353800-46354200	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
28	chr11:46353800-46354200	Bivalent Enhancer	Primary B cells from cord blood	blood
29	chr11:46353800-46354200	Enhancers	Pancreas	Pancrea
30	chr11:46353800-46354200	Bivalent Enhancer	NH-A	brain
31	chr11:46353800-46354400	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr11:46353800-46354400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr11:46353800-46354400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr11:46353800-46354400	Bivalent Enhancer	Fetal Brain Male	brain
35	chr11:46353800-46354400	Flanking Active TSS	Fetal Thymus	thymus
36	chr11:46353800-46354600	Bivalent Enhancer	Esophagus	oesophagus
37	chr11:46353800-46354800	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
38	chr11:46353800-46355400	Enhancers	Fetal Heart	heart
39	chr11:46354000-46354200	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr11:46354000-46354200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr11:46354000-46354200	Flanking Bivalent TSS/Enh	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr11:46354000-46354200	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
43	chr11:46354000-46354200	Flanking Bivalent TSS/Enh	Primary B cells from peripheral blood	blood
44	chr11:46354000-46354200	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr11:46354000-46354200	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr11:46354000-46354200	Flanking Bivalent TSS/Enh	Brain Angular Gyrus	brain
47	chr11:46354000-46354200	Bivalent/Poised TSS	Brain Substantia Nigra	brain
48	chr11:46354000-46354200	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
49	chr11:46354000-46354200	Bivalent Enhancer	Fetal Intestine Large	intestine
50	chr11:46354000-46354200	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine

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