Variant report

Variant	rs548258668
Chromosome Location	chr11:47429126-47429127
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	STAT5A	chr11:47429091-47430102	GM12878	blood:	n/a	chr11:47430023-47430035
2	MAZ	chr11:47428435-47431694	IMR90	lung:	n/a	chr11:47430013-47430023 chr11:47428706-47428716
3	NRF1	chr11:47428893-47429615	Hela-S3	cervix:	n/a	n/a
4	SMARCC1	chr11:47428853-47430013	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr11:47428389-47430514	SK-N-MC	brain:	n/a	n/a
6	POLR2A	chr11:47428446-47430424	Raji	blood:	n/a	n/a
7	MAZ	chr11:47429101-47430433	GM12878	blood:	n/a	chr11:47430013-47430023
8	MXI1	chr11:47429119-47430219	GM12878	blood:	n/a	n/a
9	MAZ	chr11:47428995-47431051	Hela-S3	cervix:	n/a	chr11:47430013-47430023
10	HCFC1	chr11:47428525-47432352	Hela-S3	cervix:	n/a	n/a
11	TEAD4	chr11:47429120-47430230	K562	blood:	n/a	n/a
12	GTF2F1	chr11:47428990-47430091	Hela-S3	cervix:	n/a	n/a
13	SREBP2	chr11:47428588-47430400	GM12878	blood:	n/a	n/a
14	POLR2A	chr11:47428925-47429956	K562	blood:	n/a	n/a
15	WRNIP1	chr11:47428768-47430098	GM12878	blood:	n/a	n/a
16	POLR2A	chr11:47429033-47431014	Hela-S3	cervix:	n/a	n/a
17	RELA	chr11:47429029-47430202	GM10847	blood:	n/a	n/a
18	CTCF	chr11:47429062-47431721	SK-N-SH	brain:	n/a	chr11:47430629-47430642 chr11:47431524-47431537 chr11:47429638-47429651
19	POLR2A	chr11:47428894-47431242	HepG2	liver:	n/a	n/a
20	POLR2A	chr11:47428716-47430428	K562	blood:	n/a	n/a
21	POLR2A	chr11:47428897-47430409	HEK293	kidney:	n/a	n/a
22	POLR2A	chr11:47429049-47430057	GM12892	blood:	n/a	n/a
23	PML	chr11:47428989-47430283	GM12878	blood:	n/a	n/a
24	MTA3	chr11:47429048-47430117	GM12878	blood:	n/a	n/a
25	RUNX3	chr11:47429037-47430203	GM12878	blood:	n/a	n/a
26	STAT5A	chr11:47429027-47430109	GM12878	blood:	n/a	chr11:47430023-47430035
27	ELK1	chr11:47429084-47429220	K562	blood:	n/a	n/a
28	POLR2A	chr11:47428727-47429128	GM12878	blood:	n/a	n/a
29	POLR2A	chr11:47428438-47430102	GM12878	blood:	n/a	n/a
30	CREB1	chr11:47429007-47430311	GM12878	blood:	n/a	n/a
31	CBX3	chr11:47429065-47430184	K562	blood:	n/a	n/a
32	POLR2A	chr11:47428730-47430090	GM12892	blood:	n/a	n/a
33	SMARCB1	chr11:47428926-47430979	Hela-S3	cervix:	n/a	n/a
34	POLR2A	chr11:47428847-47431024	H1-hESC	embryonic stem cell:	n/a	n/a
35	CUX1	chr11:47429035-47430011	GM12878	blood:	n/a	n/a
36	SP1	chr11:47429084-47430259	A549	lung:	n/a	chr11:47430019-47430029 chr11:47430019-47430029
37	MYC	chr11:47429022-47430203	A549	lung:	n/a	chr11:47430013-47430023
38	RUNX3	chr11:47429035-47430183	GM12878	blood:	n/a	n/a
39	EBF1	chr11:47428895-47430088	GM12878	blood:	n/a	chr11:47429535-47429546
40	CEBPB	chr11:47428999-47430120	GM12878	blood:	n/a	chr11:47429411-47429423
41	SPI1	chr11:47429074-47430146	GM12878	blood:	n/a	chr11:47429656-47429669 chr11:47429655-47429668 chr11:47429913-47429922 chr11:47429657-47429666 chr11:47429656-47429669
42	POLR2A	chr11:47428805-47431204	HUVEC	blood vessel:	n/a	n/a
43	POLR2A	chr11:47428475-47430484	K562	blood:	n/a	n/a
44	POLR2A	chr11:47428888-47430034	GM12878	blood:	n/a	n/a
45	POLR2A	chr11:47428452-47430359	GM12878	blood:	n/a	n/a
46	MAX	chr11:47429115-47431016	HCT-116	colon:	n/a	chr11:47430013-47430023
47	JUN	chr11:47428356-47430878	K562	blood:	n/a	chr11:47429695-47429705 chr11:47429695-47429705 chr11:47429695-47429705 chr11:47429695-47429705
48	NFIC	chr11:47429021-47430121	GM12878	blood:	n/a	n/a
49	PML	chr11:47429046-47430096	K562	blood:	n/a	n/a
50	CTCF	chr11:47429080-47429230	HPF	lung:	n/a	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	chr11:47426650..47429548-chr11:47599829..47602825,2	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	chr11:47394067..47402014-chr11:47426765..47432976,19	K562	blood:
7	chr11:47420444..47424832-chr11:47425633..47430159,5	MCF-7	breast:
8	chr11:47427429..47429907-chr11:47430975..47433040,2	MCF-7	breast:
9	chr11:47289845..47291400-chr11:47428671..47431411,2	K562	blood:
10	chr11:47419914..47422605-chr11:47427478..47432259,7	K562	blood:
11	chr11:47197465..47200418-chr11:47428077..47430700,3	K562	blood:
12	chr11:47280550..47281257-chr11:47428956..47429932,2	K562	blood:
13	chr11:47427968..47429864-chr11:47469091..47470991,2	MCF-7	breast:
14	chr11:47269451..47271860-chr11:47428590..47432270,5	K562	blood:
15	chr11:47391440..47404809-chr11:47427075..47436409,23	K562	blood:
16	chr11:47427701..47430001-chr11:47598549..47600381,2	K562	blood:

Variant related genes	Relation type
SLC39A13	TF binding region
ENSG00000264583	Chromatin interaction
ENSG00000231880	Chromatin interaction
ENSG00000165917	Chromatin interaction
ENSG00000149182	Chromatin interaction
ENSG00000123444	Chromatin interaction
ENSG00000213619	Chromatin interaction
ENSG00000165915	Chromatin interaction
ENSG00000255197	Chromatin interaction
ENSG00000025434	Chromatin interaction
ENSG00000066336	Chromatin interaction
ENSG00000256746	Chromatin interaction
ENSG00000110514	Chromatin interaction
ENSG00000134575	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:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47428200-47429200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
2	chr11:47428200-47429600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
3	chr11:47428400-47429200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr11:47428400-47429200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr11:47428400-47429200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr11:47428400-47429200	Enhancers	Primary T cells fromperipheralblood	blood
7	chr11:47428400-47429200	Enhancers	Primary T helper cells PMA-I stimulated	--
8	chr11:47428400-47429200	Enhancers	Primary T helper cells fromperipheralblood	blood
9	chr11:47428400-47429200	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr11:47428400-47429200	Enhancers	Fetal Muscle Leg	muscle
11	chr11:47428400-47429200	Enhancers	Placenta	Placenta
12	chr11:47428400-47429200	Enhancers	Lung	lung
13	chr11:47428400-47429400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr11:47428400-47429400	Enhancers	Spleen	Spleen
15	chr11:47428400-47429600	Flanking Active TSS	GM12878-XiMat	blood
16	chr11:47428400-47429600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
17	chr11:47428400-47429800	Flanking Active TSS	Primary B cells from cord blood	blood
18	chr11:47428600-47429200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr11:47428600-47429200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
20	chr11:47428600-47429200	Enhancers	Right Ventricle	heart
21	chr11:47428600-47429200	Enhancers	Sigmoid Colon	Sigmoid Colon
22	chr11:47428600-47429200	Enhancers	HUVEC	blood vessel
23	chr11:47428600-47429400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
24	chr11:47428600-47429600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
25	chr11:47428600-47429600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr11:47428600-47429600	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
27	chr11:47428600-47429600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
28	chr11:47428600-47429600	Flanking Active TSS	Hela-S3	cervix
29	chr11:47428600-47429800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr11:47428600-47429800	Flanking Active TSS	Stomach Smooth Muscle	stomach
31	chr11:47428600-47431200	Active TSS	H9 Cell Line	embryonic stem cell
32	chr11:47428800-47429200	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr11:47428800-47429200	Enhancers	Primary T cells from cord blood	blood
34	chr11:47428800-47429200	Enhancers	Primary T helper naive cells from peripheral blood	blood
35	chr11:47428800-47429200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
36	chr11:47428800-47429200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
37	chr11:47428800-47429200	Enhancers	Primary T killer memory cells from peripheral blood	blood
38	chr11:47428800-47429200	Enhancers	Muscle Satellite Cultured Cells	--
39	chr11:47428800-47429200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr11:47428800-47429200	Enhancers	Esophagus	oesophagus
41	chr11:47428800-47429200	Enhancers	Fetal Lung	lung
42	chr11:47428800-47429200	Enhancers	Gastric	stomach
43	chr11:47428800-47429200	Enhancers	Placenta Amnion	Placenta Amnion
44	chr11:47428800-47429200	Flanking Active TSS	Psoas Muscle	Psoas
45	chr11:47428800-47429400	Flanking Active TSS	H1 Cell Line	embryonic stem cell
46	chr11:47428800-47429400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
47	chr11:47428800-47429400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
48	chr11:47428800-47429400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
49	chr11:47428800-47429400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
50	chr11:47428800-47429400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell

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