Variant report

Variant	rs374101231
Chromosome Location	chr11:47431035-47431036
allele	-/AG
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	POLR2A	chr11:47430632-47431107	HepG2	liver:	n/a	n/a
2	MAZ	chr11:47428435-47431694	IMR90	lung:	n/a	chr11:47430013-47430023 chr11:47428706-47428716
3	POLR2A	chr11:47429424-47431688	IMR90	lung:	n/a	n/a
4	MAZ	chr11:47428995-47431051	Hela-S3	cervix:	n/a	chr11:47430013-47430023
5	HCFC1	chr11:47428525-47432352	Hela-S3	cervix:	n/a	n/a
6	EP300	chr11:47429381-47431040	SK-N-SH	brain:	n/a	chr11:47430234-47430243 chr11:47430826-47430842 chr11:47430309-47430325 chr11:47430623-47430639 chr11:47430200-47430209 chr11:47429639-47429655 chr11:47429853-47429869 chr11:47430197-47430206 chr11:47430194-47430203
7	POLR2A	chr11:47429454-47431598	ProgFib	skin:	n/a	n/a
8	CTCF	chr11:47431000-47431150	HMEC	breast:	n/a	n/a
9	CTCF	chr11:47429062-47431721	SK-N-SH	brain:	n/a	chr11:47430629-47430642 chr11:47431524-47431537 chr11:47429638-47429651
10	POLR2A	chr11:47429342-47431128	HUVEC	blood vessel:	n/a	n/a
11	POLR2A	chr11:47428894-47431242	HepG2	liver:	n/a	n/a
12	POLR2A	chr11:47429344-47431080	PFSK-1	brain:	n/a	n/a
13	TFAP2A	chr11:47429542-47431562	Hela-S3	cervix:	n/a	chr11:47430241-47430253 chr11:47430244-47430252 chr11:47431384-47431398 chr11:47431386-47431396 chr11:47430244-47430252 chr11:47431386-47431396 chr11:47431384-47431398 chr11:47431386-47431396 chr11:47431386-47431401 chr11:47431384-47431398 chr11:47431386-47431396 chr11:47430838-47430848 chr11:47430244-47430252
14	POLR2A	chr11:47429230-47431154	U87	brain:	n/a	n/a
15	POLR2A	chr11:47428805-47431204	HUVEC	blood vessel:	n/a	n/a
16	POLR2A	chr11:47429357-47431205	HUVEC	blood vessel:	n/a	n/a
17	MXI1	chr11:47429253-47431626	IMR90	lung:	n/a	n/a
18	SIN3AK20	chr11:47429186-47431042	MCF-7	breast:	n/a	n/a
19	MAX	chr11:47429408-47431047	SK-N-SH	brain:	n/a	chr11:47430013-47430023
20	TFAP2C	chr11:47429386-47431572	Hela-S3	cervix:	n/a	chr11:47430834-47430849 chr11:47431382-47431397
21	GATA2	chr11:47430646-47431173	SH-SY5Y	brain:	n/a	n/a
22	POLR2A	chr11:47429362-47431523	HUVEC	blood vessel:	n/a	n/a
23	RAD21	chr11:47429057-47431606	SK-N-SH	brain:	n/a	chr11:47430513-47430527 chr11:47431326-47431340 chr11:47430618-47430637
24	CHD1	chr11:47428857-47432915	IMR90	lung:	n/a	n/a
25	POLR2A	chr11:47429005-47431142	PFSK-1	brain:	n/a	n/a
26	MAX	chr11:47429158-47431123	A549	lung:	n/a	chr11:47430013-47430023
27	POLR2A	chr11:47430087-47431077	U87	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:47411629..47418031-chr11:47425327..47431880,15	K562	blood:
2	chr11:47429691..47431699-chr11:47584830..47587245,2	MCF-7	breast:
3	chr11:47290389..47294105-chr11:47428413..47432863,5	MCF-7	breast:
4	chr11:47428130..47431471-chr11:47462803..47464877,5	MCF-7	breast:
5	chr11:47205613..47207687-chr11:47429461..47432184,2	K562	blood:
6	chr11:47394067..47402014-chr11:47426765..47432976,19	K562	blood:
7	chr11:47289845..47291400-chr11:47428671..47431411,2	K562	blood:
8	chr11:47429268..47431582-chr20:56284094..56286955,2	MCF-7	breast:
9	chr11:47419914..47422605-chr11:47427478..47432259,7	K562	blood:
10	chr11:47269451..47271860-chr11:47428590..47432270,5	K562	blood:
11	chr11:47391440..47404809-chr11:47427075..47436409,23	K562	blood:
12	chr11:47429560..47431457-chr11:47788267..47789854,2	MCF-7	breast:
13	chr11:47427429..47429907-chr11:47430975..47433040,2	MCF-7	breast:

Variant related genes	Relation type
SLC39A13	TF binding region
ENSG00000255197	TF binding region
ENSG00000110514	Chromatin interaction
ENSG00000134575	Chromatin interaction
ENSG00000256746	Chromatin interaction
ENSG00000165915	Chromatin interaction
ENSG00000165917	Chromatin interaction
ENSG00000213619	Chromatin interaction
ENSG00000124225	Chromatin interaction
ENSG00000264583	Chromatin interaction
ENSG00000066336	Chromatin interaction
ENSG00000025434	Chromatin interaction
ENSG00000149187	Chromatin interaction
ENSG00000255197	Chromatin interaction
ENSG00000109920	Chromatin interaction
ENSG00000110536	Chromatin interaction
ENSG00000165912	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897323	chr11:47182926-47460306	Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	nsv917316	chr11:47232210-47448882	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
3	esv3330173	chr11:47289256-47450681	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
4	esv3416377	chr11:47289276-47450651	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
5	nsv832141	chr11:47333180-47520993	Flanking Active TSS Genic enhancers Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
6	nsv825871	chr11:47376020-47457537	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
7	nsv554210	chr11:47380593-47449544	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
8	nsv541034	chr11:47404083-47440081	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	33 gene(s)	inside rSNPs	diseases
9	nsv897325	chr11:47411736-47600438	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent Enhancer Genic enhancers 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 miRNA target site	55 gene(s)	inside rSNPs	diseases
10	nsv1036011	chr11:47413060-47582279	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	50 gene(s)	inside rSNPs	diseases
11	esv3328586	chr11:47428801-47431349	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
12	esv3353375	chr11:47429076-47431224	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	28 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	chr11:47428600-47431200	Active TSS	H9 Cell Line	embryonic stem cell
2	chr11:47429200-47431400	Active TSS	Aorta	Aorta
3	chr11:47429400-47431200	Active TSS	HUES48 Cell Line	embryonic stem cell
4	chr11:47429400-47431400	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr11:47429400-47431400	Active TSS	HSMM	muscle
6	chr11:47429400-47431600	Active TSS	Fetal Kidney	kidney
7	chr11:47429600-47431400	Active TSS	Muscle Satellite Cultured Cells	--
8	chr11:47429600-47431600	Active TSS	NHLF	lung
9	chr11:47430200-47431200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
10	chr11:47430200-47431200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
11	chr11:47430200-47431400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
12	chr11:47430200-47431800	Flanking Active TSS	Colonic Mucosa	Colon
13	chr11:47430400-47431200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr11:47430400-47431200	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr11:47430400-47431200	Flanking Active TSS	Primary T cells from cord blood	blood
16	chr11:47430400-47431200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
17	chr11:47430400-47431200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr11:47430400-47431200	Flanking Active TSS	Duodenum Mucosa	Duodenum
19	chr11:47430400-47431200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
20	chr11:47430400-47431200	Flanking Active TSS	Fetal Intestine Small	intestine
21	chr11:47430400-47431200	Flanking Active TSS	Fetal Lung	lung
22	chr11:47430400-47431200	Flanking Active TSS	Fetal Thymus	thymus
23	chr11:47430400-47431200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
24	chr11:47430400-47431200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
25	chr11:47430400-47431400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr11:47430400-47431400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr11:47430400-47431400	Flanking Active TSS	Brain Cingulate Gyrus	brain
28	chr11:47430400-47431400	Flanking Active TSS	Brain Germinal Matrix	brain
29	chr11:47430400-47431400	Flanking Active TSS	Brain Hippocampus Middle	brain
30	chr11:47430400-47431400	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
31	chr11:47430400-47431600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr11:47430400-47431600	Flanking Active TSS	Adipose Nuclei	Adipose
33	chr11:47430400-47431600	Flanking Active TSS	Brain Anterior Caudate	brain
34	chr11:47430400-47431600	Flanking Active TSS	Fetal Brain Female	brain
35	chr11:47430400-47431600	Flanking Active TSS	Fetal Muscle Trunk	muscle
36	chr11:47430400-47431600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
37	chr11:47430400-47431600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
38	chr11:47430400-47431600	Flanking Active TSS	Dnd41	blood
39	chr11:47430400-47431600	Flanking Active TSS	HUVEC	blood vessel
40	chr11:47430400-47431800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr11:47430400-47431800	Flanking Active TSS	Placenta	Placenta
42	chr11:47430400-47431800	Flanking Active TSS	Hela-S3	cervix
43	chr11:47430400-47432000	Flanking Active TSS	Stomach Smooth Muscle	stomach
44	chr11:47430600-47431200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
45	chr11:47430600-47431200	Flanking Active TSS	Brain Substantia Nigra	brain
46	chr11:47430600-47431200	Flanking Active TSS	Fetal Stomach	stomach
47	chr11:47430600-47431200	Flanking Active TSS	Pancreas	Pancrea
48	chr11:47430600-47431200	Flanking Active TSS	Thymus	Thymus
49	chr11:47430600-47431200	Flanking Active TSS	A549	lung
50	chr11:47430600-47431400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links