Variant report

Variant	rs114302626
Chromosome Location	chr11:47429277-47429278
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:162)
CpG islands
(count:0)
Chromatin interactive
region (count:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:162 , 50 per page) page: 1 2 3 4

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	BACH1	chr11:47429224-47429812	K562	blood:	n/a	n/a
4	NRF1	chr11:47428893-47429615	Hela-S3	cervix:	n/a	n/a
5	STAT3	chr11:47429257-47430022	GM12878	blood:	n/a	n/a
6	RELA	chr11:47429243-47430135	GM19099	blood:	n/a	n/a
7	CHD2	chr11:47429132-47430162	GM12878	blood:	n/a	n/a
8	SMARCC1	chr11:47428853-47430013	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr11:47428389-47430514	SK-N-MC	brain:	n/a	n/a
10	POLR2A	chr11:47428446-47430424	Raji	blood:	n/a	n/a
11	ARID3A	chr11:47429214-47430056	K562	blood:	n/a	n/a
12	POLR2A	chr11:47429277-47430364	HCT-116	colon:	n/a	n/a
13	IRF1	chr11:47429266-47430154	K562	blood:	n/a	chr11:47429567-47429584
14	MAZ	chr11:47429101-47430433	GM12878	blood:	n/a	chr11:47430013-47430023
15	MXI1	chr11:47429119-47430219	GM12878	blood:	n/a	n/a
16	MAZ	chr11:47428995-47431051	Hela-S3	cervix:	n/a	chr11:47430013-47430023
17	HCFC1	chr11:47428525-47432352	Hela-S3	cervix:	n/a	n/a
18	RELA	chr11:47429148-47430215	GM12891	blood:	n/a	n/a
19	TEAD4	chr11:47429120-47430230	K562	blood:	n/a	n/a
20	GTF2F1	chr11:47428990-47430091	Hela-S3	cervix:	n/a	n/a
21	GABPA	chr11:47429226-47430211	A549	lung:	n/a	n/a
22	SREBP2	chr11:47428588-47430400	GM12878	blood:	n/a	n/a
23	POLR2A	chr11:47428925-47429956	K562	blood:	n/a	n/a
24	MYC	chr11:47429276-47430135	K562	blood:	n/a	chr11:47430013-47430023
25	ZNF263	chr11:47429132-47430122	HEK293-T-REx	kidney:	n/a	n/a
26	WRNIP1	chr11:47428768-47430098	GM12878	blood:	n/a	n/a
27	POLR2A	chr11:47429033-47431014	Hela-S3	cervix:	n/a	n/a
28	TBP	chr11:47429232-47430038	Hela-S3	cervix:	n/a	n/a
29	RELA	chr11:47429029-47430202	GM10847	blood:	n/a	n/a
30	TBL1XR1	chr11:47429178-47430149	K562	blood:	n/a	n/a
31	TRIM28	chr11:47429247-47430242	K562	blood:	n/a	n/a
32	MAFK	chr11:47429241-47430085	Hela-S3	cervix:	n/a	n/a
33	CTCF	chr11:47429062-47431721	SK-N-SH	brain:	n/a	chr11:47430629-47430642 chr11:47431524-47431537 chr11:47429638-47429651
34	POLR2A	chr11:47428894-47431242	HepG2	liver:	n/a	n/a
35	POLR2A	chr11:47428716-47430428	K562	blood:	n/a	n/a
36	POLR2A	chr11:47428897-47430409	HEK293	kidney:	n/a	n/a
37	POLR2A	chr11:47429049-47430057	GM12892	blood:	n/a	n/a
38	PML	chr11:47428989-47430283	GM12878	blood:	n/a	n/a
39	TEAD4	chr11:47429263-47430104	K562	blood:	n/a	n/a
40	MTA3	chr11:47429048-47430117	GM12878	blood:	n/a	n/a
41	EBF1	chr11:47429159-47430137	GM12878	blood:	n/a	chr11:47429535-47429546
42	RUNX3	chr11:47429037-47430203	GM12878	blood:	n/a	n/a
43	MAX	chr11:47429260-47430278	MCF-7	breast:	n/a	chr11:47430013-47430023
44	STAT5A	chr11:47429027-47430109	GM12878	blood:	n/a	chr11:47430023-47430035
45	POLR2A	chr11:47429139-47430364	MCF-7	breast:	n/a	n/a
46	POLR2A	chr11:47429267-47429317	GM12878	blood:	n/a	n/a
47	GTF2F1	chr11:47429237-47429355	K562	blood:	n/a	n/a
48	POLR2A	chr11:47428438-47430102	GM12878	blood:	n/a	n/a
49	ZC3H11A	chr11:47429201-47430156	K562	blood:	n/a	n/a
50	RCOR1	chr11:47429245-47430151	HepG2	liver:	n/a	n/a

No data

(count:17 , 50 per page) page: 1

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	chr11:47429268..47431582-chr20:56284094..56286955,2	MCF-7	breast:
11	chr11:47419914..47422605-chr11:47427478..47432259,7	K562	blood:
12	chr11:47197465..47200418-chr11:47428077..47430700,3	K562	blood:
13	chr11:47280550..47281257-chr11:47428956..47429932,2	K562	blood:
14	chr11:47427968..47429864-chr11:47469091..47470991,2	MCF-7	breast:
15	chr11:47269451..47271860-chr11:47428590..47432270,5	K562	blood:
16	chr11:47391440..47404809-chr11:47427075..47436409,23	K562	blood:
17	chr11:47427701..47430001-chr11:47598549..47600381,2	K562	blood:

No data

Variant related genes	Relation type
SLC39A13	TF binding region
ENSG00000165915	Chromatin interaction
ENSG00000256746	Chromatin interaction
ENSG00000213619	Chromatin interaction
ENSG00000124225	Chromatin interaction
ENSG00000255197	Chromatin interaction
ENSG00000231880	Chromatin interaction
ENSG00000066336	Chromatin interaction
ENSG00000110514	Chromatin interaction
ENSG00000134575	Chromatin interaction
ENSG00000264583	Chromatin interaction
ENSG00000149182	Chromatin interaction
ENSG00000123444	Chromatin interaction
ENSG00000025434	Chromatin interaction
ENSG00000165917	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	chr11:47428200-47429600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
2	chr11:47428400-47429400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr11:47428400-47429400	Enhancers	Spleen	Spleen
4	chr11:47428400-47429600	Flanking Active TSS	GM12878-XiMat	blood
5	chr11:47428400-47429600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
6	chr11:47428400-47429800	Flanking Active TSS	Primary B cells from cord blood	blood
7	chr11:47428600-47429400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
8	chr11:47428600-47429600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
9	chr11:47428600-47429600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr11:47428600-47429600	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
11	chr11:47428600-47429600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
12	chr11:47428600-47429600	Flanking Active TSS	Hela-S3	cervix
13	chr11:47428600-47429800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr11:47428600-47429800	Flanking Active TSS	Stomach Smooth Muscle	stomach
15	chr11:47428600-47431200	Active TSS	H9 Cell Line	embryonic stem cell
16	chr11:47428800-47429400	Flanking Active TSS	H1 Cell Line	embryonic stem cell
17	chr11:47428800-47429400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
18	chr11:47428800-47429400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
19	chr11:47428800-47429400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
20	chr11:47428800-47429400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
21	chr11:47428800-47429400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
22	chr11:47428800-47429400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr11:47428800-47429400	Flanking Active TSS	Pancreas	Pancrea
24	chr11:47428800-47429600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr11:47428800-47429600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
26	chr11:47428800-47429600	Flanking Active TSS	Primary hematopoietic stem cells	blood
27	chr11:47428800-47429600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
28	chr11:47428800-47429600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr11:47428800-47429600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr11:47428800-47429600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr11:47428800-47429600	Flanking Active TSS	Brain Cingulate Gyrus	brain
32	chr11:47428800-47429600	Flanking Active TSS	Brain Hippocampus Middle	brain
33	chr11:47428800-47429600	Flanking Active TSS	Brain Substantia Nigra	brain
34	chr11:47428800-47429600	Flanking Active TSS	Colon Smooth Muscle	Colon
35	chr11:47428800-47429600	Flanking Active TSS	Duodenum Mucosa	Duodenum
36	chr11:47428800-47429600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
37	chr11:47428800-47429600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
38	chr11:47428800-47429600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
39	chr11:47428800-47429600	Flanking Active TSS	Dnd41	blood
40	chr11:47428800-47429600	Flanking Active TSS	HepG2	liver
41	chr11:47428800-47429600	Flanking Active TSS	K562	blood
42	chr11:47428800-47429600	Flanking Active TSS	NHEK	skin
43	chr11:47428800-47429800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
44	chr11:47429000-47429400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr11:47429000-47429400	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr11:47429000-47429400	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr11:47429000-47429400	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
48	chr11:47429000-47429400	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr11:47429000-47429400	Flanking Active TSS	Brain Angular Gyrus	brain
50	chr11:47429000-47429400	Flanking Active TSS	Fetal Intestine Large	intestine

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