Variant report

Variant	rs569137750
Chromosome Location	chr11:47430264-47430265
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	MAZ	chr11:47428435-47431694	IMR90	lung:	n/a	chr11:47430013-47430023 chr11:47428706-47428716
2	POLR2A	chr11:47429568-47430376	A549	lung:	n/a	n/a
3	EP300	chr11:47429396-47430417	ECC-1	luminal epithelium:	n/a	chr11:47430234-47430243 chr11:47430309-47430325 chr11:47430200-47430209 chr11:47429639-47429655 chr11:47429853-47429869 chr11:47430197-47430206 chr11:47430194-47430203
4	POLR2A	chr11:47428389-47430514	SK-N-MC	brain:	n/a	n/a
5	POLR2A	chr11:47428446-47430424	Raji	blood:	n/a	n/a
6	POLR2A	chr11:47429424-47431688	IMR90	lung:	n/a	n/a
7	POLR2A	chr11:47429277-47430364	HCT-116	colon:	n/a	n/a
8	MAZ	chr11:47429101-47430433	GM12878	blood:	n/a	chr11:47430013-47430023
9	MAZ	chr11:47428995-47431051	Hela-S3	cervix:	n/a	chr11:47430013-47430023
10	POLR2A	chr11:47430135-47430294	A549	lung:	n/a	n/a
11	HCFC1	chr11:47428525-47432352	Hela-S3	cervix:	n/a	n/a
12	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
13	SREBP2	chr11:47428588-47430400	GM12878	blood:	n/a	n/a
14	POLR2A	chr11:47429454-47431598	ProgFib	skin:	n/a	n/a
15	SRF	chr11:47429383-47430319	MCF-7	breast:	n/a	n/a
16	POLR2A	chr11:47429313-47430425	HCT-116	colon:	n/a	n/a
17	ELF1	chr11:47429378-47430269	MCF-7	breast:	n/a	chr11:47430198-47430210 chr11:47429657-47429668 chr11:47430199-47430208 chr11:47430196-47430205 chr11:47430195-47430207 chr11:47429999-47430008 chr11:47430193-47430202
18	TBL1XR1	chr11:47429453-47430491	GM12878	blood:	n/a	n/a
19	POLR2A	chr11:47429033-47431014	Hela-S3	cervix:	n/a	n/a
20	PAX5	chr11:47429548-47430379	GM12892	blood:	n/a	chr11:47429913-47429922 chr11:47430214-47430224
21	CTCF	chr11:47429062-47431721	SK-N-SH	brain:	n/a	chr11:47430629-47430642 chr11:47431524-47431537 chr11:47429638-47429651
22	POLR2A	chr11:47429342-47431128	HUVEC	blood vessel:	n/a	n/a
23	SIN3AK20	chr11:47429558-47430531	PANC-1	pancreas:	n/a	n/a
24	POLR2A	chr11:47428894-47431242	HepG2	liver:	n/a	n/a
25	POLR2A	chr11:47428716-47430428	K562	blood:	n/a	n/a
26	POLR2A	chr11:47429467-47430577	H1-neurons	neurons:	n/a	n/a
27	POLR2A	chr11:47428897-47430409	HEK293	kidney:	n/a	n/a
28	POLR2A	chr11:47429519-47430365	HepG2	liver:	n/a	n/a
29	MAX	chr11:47430197-47430463	K562	blood:	n/a	n/a
30	POLR2A	chr11:47429370-47430843	Hela-S3	cervix:	n/a	n/a
31	PML	chr11:47428989-47430283	GM12878	blood:	n/a	n/a
32	POLR2A	chr11:47429344-47431080	PFSK-1	brain:	n/a	n/a
33	MAX	chr11:47429260-47430278	MCF-7	breast:	n/a	chr11:47430013-47430023
34	NR3C1	chr11:47429594-47430270	A549	lung:	n/a	chr11:47429696-47429705
35	GABPA	chr11:47429629-47430278	HepG2	liver:	n/a	n/a
36	POLR2A	chr11:47429367-47430366	GM12878	blood:	n/a	n/a
37	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
38	POLR2A	chr11:47429139-47430364	MCF-7	breast:	n/a	n/a
39	CREB1	chr11:47429402-47430346	K562	blood:	n/a	n/a
40	YY1	chr11:47429552-47430400	ECC-1	luminal epithelium:	n/a	chr11:47430194-47430208 chr11:47430196-47430205 chr11:47430037-47430051 chr11:47430193-47430202 chr11:47430199-47430208 chr11:47430193-47430204 chr11:47430199-47430210 chr11:47430196-47430207 chr11:47430238-47430252
41	MXI1	chr11:47429542-47431013	HepG2	liver:	n/a	n/a
42	POLR2A	chr11:47429314-47430454	U87	brain:	n/a	n/a
43	FOXA2	chr11:47429502-47430265	A549	lung:	n/a	n/a
44	CREB1	chr11:47429007-47430311	GM12878	blood:	n/a	n/a
45	CREB1	chr11:47429287-47430314	HepG2	liver:	n/a	n/a
46	SMARCB1	chr11:47428926-47430979	Hela-S3	cervix:	n/a	n/a
47	MAX	chr11:47429488-47430279	ECC-1	luminal epithelium:	n/a	chr11:47430013-47430023
48	POLR2A	chr11:47429230-47431154	U87	brain:	n/a	n/a
49	POLR2A	chr11:47429337-47430385	GM15510	blood:	n/a	n/a
50	PBX3	chr11:47429199-47430323	A549	lung:	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	chr1:28974918..28975540-chr11:47429914..47430569,2	Hela-S3	cervix:
8	chr11:47429517..47430375-chr18:3603544..3604176,2	Hela-S3	cervix:
9	chr11:47289845..47291400-chr11:47428671..47431411,2	K562	blood:
10	chr11:47429268..47431582-chr20:56284094..56286955,2	MCF-7	breast:
11	chr11:47419914..47422605-chr11:47427478..47432259,7	K562	blood:
12	chr1:247373611..247374330-chr11:47429734..47430575,2	Hela-S3	cervix:
13	chr11:47197465..47200418-chr11:47428077..47430700,3	K562	blood:
14	chr11:47269451..47271860-chr11:47428590..47432270,5	K562	blood:
15	chr11:47391440..47404809-chr11:47427075..47436409,23	K562	blood:
16	chr11:47430075..47430624-chrX:153626608..153627108,2	Hela-S3	cervix:
17	chr11:47429560..47431457-chr11:47788267..47789854,2	MCF-7	breast:
18	chr11:47429406..47430356-chr6:108881662..108882226,2	HCT-116	colon:
19	chr11:47429863..47430413-chr14:77786891..77787619,2	HCT-116	colon:

Variant related genes	Relation type
SLC39A13	TF binding region
ENSG00000262001	Chromatin interaction
ENSG00000110536	Chromatin interaction
ENSG00000025434	Chromatin interaction
ENSG00000165917	Chromatin interaction
ENSG00000149182	Chromatin interaction
ENSG00000227671	Chromatin interaction
ENSG00000147403	Chromatin interaction
ENSG00000100577	Chromatin interaction
ENSG00000256746	Chromatin interaction
ENSG00000134575	Chromatin interaction
ENSG00000118689	Chromatin interaction
ENSG00000110514	Chromatin interaction
ENSG00000165912	Chromatin interaction
ENSG00000009830	Chromatin interaction
ENSG00000124225	Chromatin interaction
ENSG00000109920	Chromatin interaction
ENSG00000264583	Chromatin interaction
ENSG00000213619	Chromatin interaction
ENSG00000149187	Chromatin interaction
ENSG00000255197	Chromatin interaction
ENSG00000066336	Chromatin interaction
ENSG00000270103	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:127 , 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	chr11:47429000-47430600	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr11:47429200-47430400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr11:47429200-47430600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
5	chr11:47429200-47430600	Active TSS	Gastric	stomach
6	chr11:47429200-47430600	Active TSS	Placenta Amnion	Placenta Amnion
7	chr11:47429200-47430800	Active TSS	Lung	lung
8	chr11:47429200-47430800	Active TSS	Ovary	ovary
9	chr11:47429200-47431000	Active TSS	Psoas Muscle	Psoas
10	chr11:47429200-47431400	Active TSS	Aorta	Aorta
11	chr11:47429400-47430400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr11:47429400-47430400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr11:47429400-47430400	Active TSS	iPS-20b Cell Line	embryonic stem cell
14	chr11:47429400-47430400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr11:47429400-47430400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr11:47429400-47430400	Active TSS	Fetal Lung	lung
17	chr11:47429400-47430400	Active TSS	Spleen	Spleen
18	chr11:47429400-47430600	Active TSS	H1 Cell Line	embryonic stem cell
19	chr11:47429400-47430600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr11:47429400-47430600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr11:47429400-47430600	Active TSS	HUES6 Cell Line	embryonic stem cell
22	chr11:47429400-47430600	Active TSS	HUES64 Cell Line	embryonic stem cell
23	chr11:47429400-47430600	Active TSS	iPS-18 Cell Line	embryonic stem cell
24	chr11:47429400-47430600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr11:47429400-47430600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
26	chr11:47429400-47430600	Active TSS	Brain Angular Gyrus	brain
27	chr11:47429400-47430600	Active TSS	Fetal Intestine Large	intestine
28	chr11:47429400-47430600	Active TSS	Pancreas	Pancrea
29	chr11:47429400-47430600	Active TSS	Rectal Smooth Muscle	rectum
30	chr11:47429400-47430600	Active TSS	Sigmoid Colon	Sigmoid Colon
31	chr11:47429400-47430600	Active TSS	A549	lung
32	chr11:47429400-47430600	Active TSS	NHDF-Ad	bronchial
33	chr11:47429400-47430800	Active TSS	Left Ventricle	heart
34	chr11:47429400-47430800	Active TSS	Right Ventricle	heart
35	chr11:47429400-47431000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr11:47429400-47431000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr11:47429400-47431000	Active TSS	iPS-15b Cell Line	embryonic stem cell
38	chr11:47429400-47431000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr11:47429400-47431000	Active TSS	Esophagus	oesophagus
40	chr11:47429400-47431200	Active TSS	HUES48 Cell Line	embryonic stem cell
41	chr11:47429400-47431400	Active TSS	Pancreatic Islets	Pancreatic Islet
42	chr11:47429400-47431400	Active TSS	HSMM	muscle
43	chr11:47429400-47431600	Active TSS	Fetal Kidney	kidney
44	chr11:47429600-47430400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr11:47429600-47430400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr11:47429600-47430400	Active TSS	Primary monocytes fromperipheralblood	blood
47	chr11:47429600-47430400	Active TSS	Primary neutrophils fromperipheralblood	blood
48	chr11:47429600-47430400	Active TSS	Primary T cells from cord blood	blood
49	chr11:47429600-47430400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
50	chr11:47429600-47430400	Active TSS	Primary T helper naive cells from peripheral blood	blood

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