Variant report

Variant	rs534724632
Chromosome Location	chr11:47291650-47291651
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	GATA3	chr11:47290482-47291864	A549	lung:	n/a	chr11:47290536-47290546 chr11:47291058-47291068
2	REST	chr11:47290301-47291880	PFSK-1	brain:	n/a	chr11:47291210-47291223 chr11:47291653-47291663 chr11:47290941-47290954
3	REST	chr11:47291559-47291814	K562	blood:	n/a	chr11:47291653-47291663
4	REST	chr11:47290868-47291852	SK-N-SH	brain:	n/a	chr11:47291210-47291223 chr11:47291653-47291663 chr11:47290941-47290954
5	HMGN3	chr11:47290376-47291896	K562	blood:	n/a	n/a
6	REST	chr11:47291365-47293183	HL-60	blood:	n/a	chr11:47291653-47291663 chr11:47292130-47292137
7	POLR2A	chr11:47290276-47291902	HUVEC	blood vessel:	n/a	n/a
8	MAX	chr11:47290627-47291871	H1-hESC	embryonic stem cell:	n/a	chr11:47291637-47291647
9	EBF1	chr11:47290976-47291713	GM12878	blood:	n/a	n/a
10	ARID3A	chr11:47291618-47291798	HepG2	liver:	n/a	n/a
11	IRF1	chr11:47290220-47291902	K562	blood:	n/a	chr11:47291060-47291069 chr11:47290893-47290906 chr11:47291308-47291322
12	PML	chr11:47290271-47291942	K562	blood:	n/a	chr11:47290674-47290682
13	TBP	chr11:47290448-47291836	H1-hESC	embryonic stem cell:	n/a	n/a
14	MAX	chr11:47290400-47291869	Hela-S3	cervix:	n/a	chr11:47291637-47291647
15	TAF1	chr11:47290414-47291906	ECC-1	luminal epithelium:	n/a	n/a
16	POLR2A	chr11:47290308-47291919	U87	brain:	n/a	n/a
17	SIX5	chr11:47291368-47291792	K562	blood:	n/a	n/a
18	EP300	chr11:47291351-47291808	GM12878	blood:	n/a	chr11:47291702-47291718
19	POLR2A	chr11:47290566-47291930	GM12878	blood:	n/a	n/a
20	RUNX3	chr11:47290263-47291865	GM12878	blood:	n/a	n/a
21	CHD2	chr11:47290513-47291700	HepG2	liver:	n/a	n/a
22	POLR2A	chr11:47290131-47291929	K562	blood:	n/a	n/a
23	CTCF	chr11:47291500-47291650	GM12869	blood:	n/a	n/a
24	PAX5	chr11:47291393-47291762	GM12878	blood:	n/a	n/a
25	CBX3	chr11:47290189-47291670	K562	blood:	n/a	n/a
26	RCOR1	chr11:47291370-47291695	HepG2	liver:	n/a	n/a
27	POLR2A	chr11:47290109-47292622	K562	blood:	n/a	n/a
28	TCF12	chr11:47290240-47291991	A549	lung:	n/a	n/a
29	MYC	chr11:47291234-47291750	HepG2	liver:	n/a	chr11:47291637-47291647
30	POLR2A	chr11:47290443-47291869	U87	brain:	n/a	n/a
31	ELF1	chr11:47290935-47291913	K562	blood:	n/a	chr11:47291054-47291067 chr11:47291632-47291644 chr11:47291746-47291755 chr11:47291096-47291108 chr11:47291211-47291223
32	POLR2A	chr11:47290308-47291867	PBDE	blood:	n/a	n/a
33	POLR2A	chr11:47290765-47291863	A549	lung:	n/a	n/a
34	EGR1	chr11:47291377-47291759	GM12878	blood:	n/a	chr11:47291508-47291518 chr11:47291517-47291527 chr11:47291638-47291648
35	POLR2A	chr11:47290329-47291941	GM18526	blood:	n/a	n/a
36	ZMIZ1	chr11:47290428-47291844	K562	blood:	n/a	n/a
37	MYBL2	chr11:47290320-47291745	HepG2	liver:	n/a	n/a
38	POLR2A	chr11:47290335-47291889	HepG2	liver:	n/a	n/a
39	POLR2A	chr11:47290264-47291932	GM12891	blood:	n/a	n/a
40	POLR2A	chr11:47291189-47291856	SK-N-SH	brain:	n/a	n/a
41	JUND	chr11:47291466-47291735	HepG2	liver:	n/a	n/a
42	POLR2A	chr11:47290093-47291914	GM12878	blood:	n/a	n/a
43	SP1	chr11:47290366-47291880	A549	lung:	n/a	chr11:47291097-47291108 chr11:47291308-47291320 chr11:47290695-47290704 chr11:47291099-47291108 chr11:47291309-47291318
44	EP300	chr11:47291480-47291754	H1-hESC	embryonic stem cell:	n/a	chr11:47291702-47291718
45	TAF1	chr11:47290734-47291892	HepG2	liver:	n/a	n/a
46	POLR2A	chr11:47290376-47291903	GM12891	blood:	n/a	n/a
47	ELF1	chr11:47290173-47291919	HepG2	liver:	n/a	chr11:47290538-47290549 chr11:47291054-47291067 chr11:47291632-47291644 chr11:47290911-47290922 chr11:47291746-47291755 chr11:47291096-47291108 chr11:47290537-47290548 chr11:47291211-47291223
48	MYC	chr11:47290322-47291856	K562	blood:	n/a	chr11:47291637-47291647
49	TAF1	chr11:47290414-47291811	SK-N-SH	brain:	n/a	n/a
50	NFIC	chr11:47291252-47291892	ECC-1	luminal epithelium:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:47267881..47272421-chr11:47288787..47294481,12	K562	blood:
2	chr11:47290254..47293439-chr11:47374246..47378968,6	MCF-7	breast:
3	chr11:46867608..46869466-chr11:47290892..47293495,3	MCF-7	breast:
4	chr11:47195816..47200318-chr11:47289518..47292814,8	K562	blood:
5	chr1:23885363..23886146-chr11:47291031..47291703,2	Hela-S3	cervix:
6	chr11:47194502..47201735-chr11:47289181..47294156,14	K562	blood:
7	chr1:16173725..16174683-chr11:47291183..47291944,2	Hela-S3	cervix:
8	chr11:47291353..47293892-chr11:47343454..47345274,2	K562	blood:
9	chr11:47289567..47294786-chr11:47310778..47315538,7	MCF-7	breast:
10	chr11:47190024..47192945-chr11:47289457..47292109,2	MCF-7	breast:
11	chr11:46401780..46403457-chr11:47290200..47292891,2	MCF-7	breast:
12	chr11:47279843..47284326-chr11:47288675..47293634,16	MCF-7	breast:
13	chr11:47263865..47272320-chr11:47288426..47294726,14	MCF-7	breast:
14	chr11:47291467..47292011-chr20:43991703..43992344,2	Hela-S3	cervix:
15	chr11:47264797..47267629-chr11:47289343..47292246,3	K562	blood:
16	chr11:47290951..47293321-chr11:47445782..47448016,2	K562	blood:
17	chr11:47270208..47270736-chr11:47291056..47291685,2	K562	blood:
18	chr11:47277336..47279783-chr11:47290576..47292976,4	MCF-7	breast:
19	chr11:47235395..47237642-chr11:47289103..47291887,3	K562	blood:
20	chr11:47289554..47292260-chr11:47397624..47400665,3	K562	blood:
21	chr11:47235321..47238553-chr11:47290387..47292949,4	K562	blood:
22	chr11:47291588..47294118-chr11:47313687..47316370,3	K562	blood:
23	chr11:47277979..47283267-chr11:47289057..47293509,9	K562	blood:
24	chr11:47204494..47207545-chr11:47289955..47292546,3	K562	blood:
25	chr11:47268938..47272778-chr11:47288986..47293565,7	MCF-7	breast:
26	chr11:47268303..47273264-chr11:47289525..47294481,12	K562	blood:
27	chr11:47195231..47200543-chr11:47288487..47293127,12	MCF-7	breast:
28	chr11:47290550..47292544-chr11:47348957..47351454,2	MCF-7	breast:
29	chr11:47205837..47210171-chr11:47289770..47293955,7	MCF-7	breast:
30	chr11:47235151..47238129-chr11:47286989..47291992,5	MCF-7	breast:
31	chr11:47291167..47293193-chr11:47345602..47348128,2	K562	blood:
32	chr11:47290389..47294105-chr11:47428413..47432863,5	MCF-7	breast:
33	chr11:47290429..47293321-chr11:47445782..47448351,3	K562	blood:
34	chr11:47290760..47291689-chr16:67694026..67694999,2	Hela-S3	cervix:
35	chr11:47291432..47292021-chr8:22462067..22462755,2	HCT-116	colon:
36	chr11:47234552..47236757-chr11:47290593..47292750,2	MCF-7	breast:
37	chr11:47207085..47210178-chr11:47288214..47292056,4	MCF-7	breast:
38	chr11:47196068..47203526-chr11:47288943..47293025,13	MCF-7	breast:
39	chr11:47206281..47210029-chr11:47290997..47292963,3	K562	blood:

Variant related genes	Relation type
MADD	TF binding region
ENSG00000066336	Chromatin interaction
ENSG00000247675	Chromatin interaction
ENSG00000179743	Chromatin interaction
ENSG00000254806	Chromatin interaction
ENSG00000102977	Chromatin interaction
ENSG00000117318	Chromatin interaction
ENSG00000134571	Chromatin interaction
ENSG00000065526	Chromatin interaction
ENSG00000165912	Chromatin interaction
ENSG00000165916	Chromatin interaction
ENSG00000270060	Chromatin interaction
ENSG00000175216	Chromatin interaction
ENSG00000134575	Chromatin interaction
ENSG00000102981	Chromatin interaction
ENSG00000134574	Chromatin interaction
ENSG00000110492	Chromatin interaction
ENSG00000110514	Chromatin interaction
ENSG00000025434	Chromatin interaction
ENSG00000255197	Chromatin interaction
ENSG00000165915	Chromatin interaction
ENSG00000149182	Chromatin interaction
ENSG00000204070	Chromatin interaction
ENSG00000158941	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 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	esv3407193	chr11:47290401-47292949	Flanking Active TSS Active TSS Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
6	esv3436371	chr11:47291576-47292674	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 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	chr11:47290400-47292400	Active TSS	Right Atrium	heart
2	chr11:47290400-47292800	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr11:47290600-47291800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
4	chr11:47290600-47292200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr11:47290600-47292200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr11:47290600-47292200	Active TSS	Colonic Mucosa	Colon
7	chr11:47290600-47292200	Active TSS	Duodenum Mucosa	Duodenum
8	chr11:47290600-47292200	Active TSS	Fetal Brain Male	brain
9	chr11:47290600-47292200	Active TSS	Fetal Intestine Small	intestine
10	chr11:47290600-47292200	Active TSS	Psoas Muscle	Psoas
11	chr11:47290600-47292200	Active TSS	K562	blood
12	chr11:47290600-47292400	Active TSS	H1 Cell Line	embryonic stem cell
13	chr11:47290600-47292400	Active TSS	iPS-15b Cell Line	embryonic stem cell
14	chr11:47290600-47292400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr11:47290600-47292400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
16	chr11:47290600-47292400	Active TSS	Esophagus	oesophagus
17	chr11:47290600-47292400	Active TSS	Fetal Kidney	kidney
18	chr11:47290600-47292400	Active TSS	Sigmoid Colon	Sigmoid Colon
19	chr11:47290600-47292600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr11:47290600-47292600	Active TSS	Ovary	ovary
21	chr11:47290600-47292800	Active TSS	H9 Cell Line	embryonic stem cell
22	chr11:47290600-47292800	Active TSS	iPS-20b Cell Line	embryonic stem cell
23	chr11:47290600-47292800	Active TSS	Breast Myoepithelial Primary Cells	Breast
24	chr11:47290600-47294000	Active TSS	Pancreatic Islets	Pancreatic Islet
25	chr11:47290800-47292200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr11:47290800-47292200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr11:47290800-47292200	Active TSS	Primary T helper naive cells from peripheral blood	blood
28	chr11:47290800-47292200	Active TSS	Brain Anterior Caudate	brain
29	chr11:47290800-47292200	Active TSS	Placenta Amnion	Placenta Amnion
30	chr11:47290800-47292200	Active TSS	Thymus	Thymus
31	chr11:47290800-47292400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr11:47290800-47292400	Active TSS	HUES48 Cell Line	embryonic stem cell
33	chr11:47290800-47292400	Active TSS	Brain Inferior Temporal Lobe	brain
34	chr11:47290800-47292400	Active TSS	Brain Substantia Nigra	brain
35	chr11:47290800-47292400	Active TSS	Duodenum Smooth Muscle	Duodenum
36	chr11:47290800-47292400	Active TSS	Gastric	stomach
37	chr11:47290800-47292400	Active TSS	Spleen	Spleen
38	chr11:47290800-47292600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr11:47290800-47292600	Active TSS	Aorta	Aorta
40	chr11:47290800-47292600	Active TSS	Small Intestine	intestine
41	chr11:47291000-47291800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr11:47291000-47291800	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
43	chr11:47291000-47292000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr11:47291000-47292000	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
45	chr11:47291000-47292200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr11:47291000-47292200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr11:47291000-47292200	Active TSS	HUES64 Cell Line	embryonic stem cell
48	chr11:47291000-47292200	Active TSS	iPS-18 Cell Line	embryonic stem cell
49	chr11:47291000-47292200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr11:47291000-47292200	Active TSS	Primary monocytes fromperipheralblood	blood

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