Variant report

Variant	rs184747396
Chromosome Location	chr11:47429734-47429735
allele	A/C
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	RAD21	chr11:47429596-47429999	HepG2	liver:	n/a	n/a
2	CTCF	chr11:47429649-47429942	H1-hESC	embryonic stem cell:	n/a	n/a
3	CTCF	chr11:47429660-47429810	AG09309	skin:	n/a	n/a
4	E2F4	chr11:47429495-47430056	MCF10A-Er-Src	breast:	n/a	chr11:47430009-47430021 chr11:47429763-47429772 chr11:47430008-47430019
5	RAD21	chr11:47429300-47430118	MCF-7	breast:	n/a	n/a
6	TAF1	chr11:47429548-47430183	SK-N-SH	brain:	n/a	n/a
7	CTCF	chr11:47429700-47429850	GM12869	blood:	n/a	n/a
8	CTCF	chr11:47429680-47429830	HCFaa	heart:	n/a	n/a
9	POU2F2	chr11:47429693-47430102	GM12891	blood:	n/a	chr11:47429984-47429996
10	CTCF	chr11:47429680-47429830	HCPEpiC	choroid plexus:	n/a	n/a
11	FOXP2	chr11:47429670-47430096	SK-N-MC	brain:	n/a	n/a
12	PAX5	chr11:47429499-47430150	GM12878	blood:	n/a	chr11:47429913-47429922
13	MAX	chr11:47429597-47430156	HepG2	liver:	n/a	chr11:47430013-47430023
14	MAX	chr11:47429343-47430104	ECC-1	luminal epithelium:	n/a	chr11:47430013-47430023
15	CTCF	chr11:47429628-47429938	LNCaP	prostate:	n/a	chr11:47429638-47429651
16	CTCF	chr11:47429680-47429830	HFF-Myc	foreskin:	n/a	n/a
17	MYC	chr11:47429450-47430217	K562	blood:	n/a	chr11:47430013-47430023
18	STAT5A	chr11:47429091-47430102	GM12878	blood:	n/a	chr11:47430023-47430035
19	TAF1	chr11:47429688-47430097	SK-N-SH	brain:	n/a	n/a
20	RAD21	chr11:47429584-47429977	A549	lung:	n/a	n/a
21	CTCF	chr11:47429591-47429918	A549	lung:	n/a	chr11:47429638-47429651
22	MAZ	chr11:47428435-47431694	IMR90	lung:	n/a	chr11:47430013-47430023 chr11:47428706-47428716
23	EP300	chr11:47429691-47430237	ECC-1	luminal epithelium:	n/a	chr11:47430200-47430209 chr11:47429853-47429869 chr11:47430197-47430206 chr11:47430194-47430203
24	GABPA	chr11:47429626-47430239	GM12878	blood:	n/a	n/a
25	POLR2A	chr11:47429568-47430376	A549	lung:	n/a	n/a
26	CTCF	chr11:47429680-47429830	HepG2	liver:	n/a	n/a
27	CTCF	chr11:47429652-47429913	HUVEC	blood vessel:	n/a	n/a
28	BACH1	chr11:47429224-47429812	K562	blood:	n/a	n/a
29	YY1	chr11:47429308-47430244	GM12892	blood:	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
30	NFIC	chr11:47429333-47430072	GM12878	blood:	n/a	n/a
31	POU2F2	chr11:47429458-47430142	GM12891	blood:	n/a	chr11:47429984-47429996
32	STAT3	chr11:47429257-47430022	GM12878	blood:	n/a	n/a
33	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
34	RELA	chr11:47429243-47430135	GM19099	blood:	n/a	n/a
35	USF1	chr11:47429592-47430108	A549	lung:	n/a	chr11:47429762-47429778
36	CHD2	chr11:47429132-47430162	GM12878	blood:	n/a	n/a
37	YY1	chr11:47429356-47430232	GM12878	blood:	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
38	SMARCC1	chr11:47428853-47430013	Hela-S3	cervix:	n/a	n/a
39	POLR2A	chr11:47429697-47429981	GM12891	blood:	n/a	n/a
40	CTCF	chr11:47429680-47429830	WERI-Rb-1	eye:	n/a	n/a
41	EGR1	chr11:47429613-47430208	GM12878	blood:	n/a	chr11:47429754-47429764
42	TCF7L2	chr11:47429286-47430086	Hela-S3	cervix:	n/a	n/a
43	E2F6	chr11:47429683-47429949	K562	blood:	n/a	chr11:47429763-47429772
44	POLR2A	chr11:47428389-47430514	SK-N-MC	brain:	n/a	n/a
45	MYC	chr11:47429468-47430145	K562	blood:	n/a	chr11:47430013-47430023
46	TAF1	chr11:47429387-47430177	PFSK-1	brain:	n/a	n/a
47	POLR2A	chr11:47428446-47430424	Raji	blood:	n/a	n/a
48	POLR2A	chr11:47429424-47431688	IMR90	lung:	n/a	n/a
49	ARID3A	chr11:47429214-47430056	K562	blood:	n/a	n/a
50	FOSL2	chr11:47429356-47430235	SK-N-SH	brain:	n/a	chr11:47429695-47429705 chr11:47429695-47429705 chr11:47429695-47429705 chr11:47429695-47429705

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:47429713-47429763	HAEpiC	amniotic membrane:	n/a
2	chr11:47429713-47429763	HNPCEpiC	eye:	n/a
3	chr11:47429713-47429763	HPAEpiC	pulmonary alveolar:	n/a
4	chr11:47429713-47429763	NHDF-neo	bronchial:	n/a
5	chr11:47429713-47429763	HRPEpiC	eye:	n/a
6	chr11:47429713-47429763	Hela-S3	cervix:	n/a
7	chr11:47429713-47429763	SAEC	small airway:	n/a
8	chr11:47429713-47429763	LNCaP	prostate:	n/a
9	chr11:47429713-47429763	HRE	kidney:	n/a
10	chr11:47429713-47429763	HCF	heart:	n/a
11	chr11:47429713-47429763	HMEC	breast:	n/a
12	chr11:47429713-47429763	GM12892	blood:	n/a
13	chr11:47429713-47429763	AG09309	skin:	n/a
14	chr11:47429713-47429763	IMR90	lung:	fetal
15	chr11:47429713-47429763	NB4	blood:	n/a
16	chr11:47429713-47429763	AoSMC	blood vessel:	n/a
17	chr11:47429713-47429763	HCT-116	colon:	n/a
18	chr11:47429713-47429763	Caco-2	colon:	n/a
19	chr11:47429713-47429763	NT2-D1	testis:	n/a
20	chr11:47429713-47429763	HepG2	liver:	n/a
21	chr11:47429713-47429763	BJ	skin:	n/a
22	chr11:47429713-47429763	ovcar-3	ovarian:	n/a
23	chr11:47429713-47429763	K562	blood:	n/a
24	chr11:47429713-47429763	ProgFib	skin:	n/a
25	chr11:47429713-47429763	CMK	blood:	n/a
26	chr11:47429713-47429763	SK-N-SH_RA	brain:	n/a
27	chr11:47429713-47429763	PrEC	prostate:	n/a
28	chr11:47429713-47429763	A549	lung:	n/a
29	chr11:47429713-47429763	MCF10A-Er-Src	breast:	n/a
30	chr11:47429713-47429763	PFSK-1	brain:	n/a
31	chr11:47429713-47429763	MCF-7	breast:	n/a
32	chr11:47429713-47429763	GM19239	blood:	n/a
33	chr11:47429713-47429763	T-47D	breast:	n/a
34	chr11:47429713-47429763	ECC-1	luminal epithelium:	n/a
35	chr11:47429713-47429763	HCM	heart:	n/a
36	chr11:47429713-47429763	NHBE	bronchial:	n/a
37	chr11:47429713-47429763	NH-A	brain:	n/a
38	chr11:47429713-47429763	H1-hESC	embryonic stem cell:	embryo
39	chr11:47429713-47429763	GM12891	blood:	n/a
40	chr11:47429713-47429763	HIPEpiC	eye:	n/a
41	chr11:47429713-47429763	U87	brain:	n/a
42	chr11:47429713-47429763	SK-N-SH	brain:	n/a
43	chr11:47429713-47429763	HEEpiC	esophagus:	n/a
44	chr11:47429713-47429763	HUVEC	blood vessel:	n/a
45	chr11:47429713-47429763	AG04449	skin:	fetal
46	chr11:47429713-47429763	Hepatocyte	liver:	n/a
47	chr11:47429713-47429763	GM06990	blood:	n/a
48	chr11:47429713-47429763	HRCEpiC	kidney:	n/a
49	chr11:47429713-47429763	SK-N-MC	brain:	n/a
50	chr11:47429713-47429763	HL-60	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:47198635..47199333-chr11:47429103..47429994,3	K562	blood:
2	chr11:47411629..47418031-chr11:47425327..47431880,15	K562	blood:
3	chr11:47429691..47431699-chr11:47584830..47587245,2	MCF-7	breast:
4	chr11:47290389..47294105-chr11:47428413..47432863,5	MCF-7	breast:
5	chr11:47428130..47431471-chr11:47462803..47464877,5	MCF-7	breast:
6	chr11:47205613..47207687-chr11:47429461..47432184,2	K562	blood:
7	chr11:47394067..47402014-chr11:47426765..47432976,19	K562	blood:
8	chr11:47420444..47424832-chr11:47425633..47430159,5	MCF-7	breast:
9	chr11:47427429..47429907-chr11:47430975..47433040,2	MCF-7	breast:
10	chr11:47429517..47430375-chr18:3603544..3604176,2	Hela-S3	cervix:
11	chr11:47289845..47291400-chr11:47428671..47431411,2	K562	blood:
12	chr11:47429268..47431582-chr20:56284094..56286955,2	MCF-7	breast:
13	chr11:47419914..47422605-chr11:47427478..47432259,7	K562	blood:
14	chr11:47292200..47292859-chr11:47429308..47429854,2	MCF-7	breast:
15	chr11:47399637..47400552-chr11:47429660..47430192,2	K562	blood:
16	chr1:247373611..247374330-chr11:47429734..47430575,2	Hela-S3	cervix:
17	chr11:47197465..47200418-chr11:47428077..47430700,3	K562	blood:
18	chr11:47429488..47430177-chr12:56367583..56368255,2	HCT-116	colon:
19	chr11:47280550..47281257-chr11:47428956..47429932,2	K562	blood:
20	chr11:47427968..47429864-chr11:47469091..47470991,2	MCF-7	breast:
21	chr11:47269451..47271860-chr11:47428590..47432270,5	K562	blood:
22	chr11:47391440..47404809-chr11:47427075..47436409,23	K562	blood:
23	chr11:47429560..47431457-chr11:47788267..47789854,2	MCF-7	breast:
24	chr11:47427701..47430001-chr11:47598549..47600381,2	K562	blood:
25	chr11:47429406..47430356-chr6:108881662..108882226,2	HCT-116	colon:

Variant related genes	Relation type
SLC39A13	TF binding region
SLC39A13	CpG island
ENSG00000256746	Chromatin interaction
ENSG00000255197	Chromatin interaction
ENSG00000110514	Chromatin interaction
ENSG00000134575	Chromatin interaction
ENSG00000066336	Chromatin interaction
ENSG00000165912	Chromatin interaction
ENSG00000165915	Chromatin interaction
ENSG00000110536	Chromatin interaction
ENSG00000124225	Chromatin interaction
ENSG00000149182	Chromatin interaction
ENSG00000231880	Chromatin interaction
ENSG00000149187	Chromatin interaction
ENSG00000165917	Chromatin interaction
ENSG00000111540	Chromatin interaction
ENSG00000025434	Chromatin interaction
ENSG00000118689	Chromatin interaction
ENSG00000264583	Chromatin interaction
ENSG00000262001	Chromatin interaction
ENSG00000227671	Chromatin interaction
ENSG00000109920	Chromatin interaction
ENSG00000213619	Chromatin interaction
ENSG00000123444	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	chr11:47428400-47429800	Flanking Active TSS	Primary B cells from cord blood	blood
2	chr11:47428600-47429800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr11:47428600-47429800	Flanking Active TSS	Stomach Smooth Muscle	stomach
4	chr11:47428600-47431200	Active TSS	H9 Cell Line	embryonic stem cell
5	chr11:47428800-47429800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
6	chr11:47429000-47429800	Flanking Active TSS	Primary B cells from peripheral blood	blood
7	chr11:47429000-47429800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
8	chr11:47429000-47429800	Flanking Active TSS	Colonic Mucosa	Colon
9	chr11:47429000-47430600	Active TSS	ES-I3 Cell Line	embryonic stem cell
10	chr11:47429200-47429800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
11	chr11:47429200-47429800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
12	chr11:47429200-47429800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
13	chr11:47429200-47429800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr11:47429200-47430400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr11:47429200-47430600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
16	chr11:47429200-47430600	Active TSS	Gastric	stomach
17	chr11:47429200-47430600	Active TSS	Placenta Amnion	Placenta Amnion
18	chr11:47429200-47430800	Active TSS	Lung	lung
19	chr11:47429200-47430800	Active TSS	Ovary	ovary
20	chr11:47429200-47431000	Active TSS	Psoas Muscle	Psoas
21	chr11:47429200-47431400	Active TSS	Aorta	Aorta
22	chr11:47429400-47430400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr11:47429400-47430400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr11:47429400-47430400	Active TSS	iPS-20b Cell Line	embryonic stem cell
25	chr11:47429400-47430400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr11:47429400-47430400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr11:47429400-47430400	Active TSS	Fetal Lung	lung
28	chr11:47429400-47430400	Active TSS	Spleen	Spleen
29	chr11:47429400-47430600	Active TSS	H1 Cell Line	embryonic stem cell
30	chr11:47429400-47430600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr11:47429400-47430600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr11:47429400-47430600	Active TSS	HUES6 Cell Line	embryonic stem cell
33	chr11:47429400-47430600	Active TSS	HUES64 Cell Line	embryonic stem cell
34	chr11:47429400-47430600	Active TSS	iPS-18 Cell Line	embryonic stem cell
35	chr11:47429400-47430600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr11:47429400-47430600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
37	chr11:47429400-47430600	Active TSS	Brain Angular Gyrus	brain
38	chr11:47429400-47430600	Active TSS	Fetal Intestine Large	intestine
39	chr11:47429400-47430600	Active TSS	Pancreas	Pancrea
40	chr11:47429400-47430600	Active TSS	Rectal Smooth Muscle	rectum
41	chr11:47429400-47430600	Active TSS	Sigmoid Colon	Sigmoid Colon
42	chr11:47429400-47430600	Active TSS	A549	lung
43	chr11:47429400-47430600	Active TSS	NHDF-Ad	bronchial
44	chr11:47429400-47430800	Active TSS	Left Ventricle	heart
45	chr11:47429400-47430800	Active TSS	Right Ventricle	heart
46	chr11:47429400-47431000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr11:47429400-47431000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr11:47429400-47431000	Active TSS	iPS-15b Cell Line	embryonic stem cell
49	chr11:47429400-47431000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr11:47429400-47431000	Active TSS	Esophagus	oesophagus

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