Variant report

Variant	rs544968300
Chromosome Location	chr11:66234468-66234469
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	POLR2A	chr11:66233702-66234536	HL-60	blood:	n/a	n/a
2	POLR2A	chr11:66234276-66234507	Hela-S3	cervix:	n/a	n/a
3	CTCF	chr11:66234400-66234550	GM12868	blood:	n/a	n/a
4	UBTF	chr11:66234206-66234972	K562	blood:	n/a	n/a
5	POLR2A	chr11:66234009-66234568	GM15510	blood:	n/a	n/a
6	UBTF	chr11:66234108-66234998	K562	blood:	n/a	n/a
7	USF2	chr11:66234182-66234487	GM12878	blood:	n/a	chr11:66234401-66234417
8	SIN3AK20	chr11:66233951-66234491	SK-N-SH	brain:	n/a	n/a
9	CREB1	chr11:66233897-66234600	GM12878	blood:	n/a	n/a
10	MAX	chr11:66234296-66234487	K562	blood:	n/a	n/a
11	EGR1	chr11:66234041-66234987	K562	blood:	n/a	chr11:66234893-66234903 chr11:66234890-66234900 chr11:66234626-66234635 chr11:66234893-66234904
12	POLR2A	chr11:66233990-66234508	MCF10A-Er-Src	breast:	n/a	n/a
13	SP4	chr11:66233469-66234510	H1-hESC	embryonic stem cell:	n/a	chr11:66234323-66234339 chr11:66234321-66234337 chr11:66234195-66234211 chr11:66234303-66234319 chr11:66233916-66233927
14	MYC	chr11:66234373-66234471	HepG2	liver:	n/a	n/a
15	POLR2A	chr11:66233960-66235045	H1-neurons	neurons:	n/a	n/a
16	CCNT2	chr11:66233987-66234984	K562	blood:	n/a	chr11:66234084-66234093 chr11:66234292-66234301 chr11:66234356-66234365
17	POLR2A	chr11:66234294-66234506	A549	lung:	n/a	n/a
18	MAX	chr11:66233762-66235170	MCF-7	breast:	n/a	n/a
19	HEY1	chr11:66233918-66234617	HepG2	liver:	n/a	chr11:66234401-66234416
20	POLR2A	chr11:66233756-66234575	NB4	blood:	n/a	n/a
21	MAZ	chr11:66233876-66234893	HepG2	liver:	n/a	n/a
22	POLR2A	chr11:66233866-66234592	ProgFib	skin:	n/a	n/a
23	MYC	chr11:66234100-66234769	MCF10A-Er-Src	breast:	n/a	n/a
24	POLR2A	chr11:66233856-66234814	ECC-1	luminal epithelium:	n/a	n/a
25	POLR2A	chr11:66233985-66234621	H1-hESC	embryonic stem cell:	n/a	n/a
26	BHLHE40	chr11:66234363-66234769	K562	blood:	n/a	chr11:66234401-66234417
27	POLR2A	chr11:66233985-66234800	HEK293	kidney:	n/a	n/a
28	POLR2A	chr11:66233900-66234583	HCT-116	colon:	n/a	n/a
29	BACH1	chr11:66233920-66234843	H1-hESC	embryonic stem cell:	n/a	n/a
30	POLR2A	chr11:66233921-66234771	MCF-7	breast:	n/a	n/a
31	ZEB1	chr11:66234189-66234556	GM12878	blood:	n/a	n/a
32	SP1	chr11:66233851-66234494	GM12878	blood:	n/a	chr11:66234084-66234094 chr11:66234217-66234229 chr11:66234306-66234315 chr11:66234322-66234336 chr11:66234217-66234229 chr11:66234326-66234335 chr11:66234219-66234228 chr11:66234327-66234336 chr11:66234292-66234301 chr11:66234307-66234316 chr11:66234356-66234365 chr11:66234293-66234302 chr11:66234083-66234095 chr11:66234305-66234317 chr11:66234307-66234316 chr11:66234293-66234302 chr11:66234325-66234337 chr11:66234349-66234363 chr11:66234214-66234228 chr11:66234084-66234093 chr11:66234009-66234018 chr11:66234305-66234317 chr11:66234083-66234095 chr11:66234306-66234316 chr11:66234325-66234337 chr11:66233916-66233927
33	POLR2A	chr11:66233956-66234764	K562	blood:	n/a	n/a
34	MYC	chr11:66234147-66234857	K562	blood:	n/a	n/a
35	USF1	chr11:66234194-66234527	SK-N-SH	brain:	n/a	chr11:66234401-66234417
36	CREB1	chr11:66233990-66234815	A549	lung:	n/a	n/a
37	CHD2	chr11:66233991-66234667	Hela-S3	cervix:	n/a	n/a
38	POLR2A	chr11:66233907-66234556	GM12892	blood:	n/a	n/a
39	TAF1	chr11:66233681-66234588	ECC-1	luminal epithelium:	n/a	n/a
40	USF1	chr11:66234157-66234497	K562	blood:	n/a	chr11:66234401-66234417
41	POLR2A	chr11:66233889-66234737	HCT-116	colon:	n/a	n/a
42	E2F4	chr11:66234104-66234810	K562	blood:	n/a	chr11:66234293-66234304
43	POLR2A	chr11:66233733-66234503	SK-N-MC	brain:	n/a	n/a
44	MAX	chr11:66234019-66234939	K562	blood:	n/a	n/a
45	CREB1	chr11:66233688-66235152	HepG2	liver:	n/a	n/a
46	ZBTB7A	chr11:66233722-66234917	K562	blood:	n/a	chr11:66234217-66234224
47	ZBTB7A	chr11:66234406-66234879	ECC-1	luminal epithelium:	n/a	n/a
48	POLR2A	chr11:66234303-66234514	A549	lung:	n/a	n/a
49	POLR2A	chr11:66233900-66234586	PFSK-1	brain:	n/a	n/a
50	YY1	chr11:66234268-66234469	K562	blood:	n/a	chr11:66234397-66234411 chr11:66234403-66234417 chr11:66234400-66234414

No.	Distal block	Cell Line	Cell type
1	chr11:66204408..66207592-chr11:66232898..66234568,4	MCF-7	breast:
2	chr11:66056443..66058001-chr11:66233294..66235684,2	MCF-7	breast:
3	chr11:66137724..66140546-chr11:66233440..66235364,2	MCF-7	breast:
4	chr11:66205149..66207043-chr11:66233643..66235724,3	MCF-7	breast:
5	chr11:66232704..66235668-chr11:66609805..66612233,2	MCF-7	breast:
6	chr11:66204104..66208501-chr11:66232741..66235835,4	K562	blood:
7	chr11:66112568..66115991-chr11:66232682..66235735,3	K562	blood:
8	chr11:66139196..66140787-chr11:66233339..66235193,2	MCF-7	breast:
9	chr11:66204033..66208144-chr11:66232603..66235665,3	K562	blood:
10	chr11:66115381..66116970-chr11:66233175..66235277,2	MCF-7	breast:
11	chr11:66233713..66235864-chr11:66383889..66386308,2	MCF-7	breast:
12	chr11:66233892..66235640-chr11:66313416..66314952,2	K562	blood:
13	chr11:64543824..64546166-chr11:66233104..66235592,3	MCF-7	breast:
14	chr11:66234037..66235984-chr11:66277120..66279562,2	MCF-7	breast:

Variant related genes	Relation type
MRPL11	TF binding region
PELI3	TF binding region
ENSG00000173653	Chromatin interaction
ENSG00000239306	Chromatin interaction
ENSG00000174744	Chromatin interaction
ENSG00000174851	Chromatin interaction
ENSG00000174165	Chromatin interaction
ENSG00000174669	Chromatin interaction
ENSG00000255468	Chromatin interaction
ENSG00000174684	Chromatin interaction
ENSG00000174547	Chromatin interaction
ENSG00000248643	Chromatin interaction
ENSG00000248746	Chromatin interaction
ENSG00000168066	Chromatin interaction
ENSG00000174483	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3392427	chr11:65981489-66273695	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	118 gene(s)	inside rSNPs	diseases
2	nsv897771	chr11:66011280-66362997	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	124 gene(s)	inside rSNPs	diseases
3	nsv897772	chr11:66018155-66254085	Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	118 gene(s)	inside rSNPs	diseases
4	nsv897780	chr11:66083129-66362997	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
5	nsv832193	chr11:66120339-66278805	Strong transcription Bivalent/Poised TSS Weak transcription Active TSS Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
6	nsv897786	chr11:66203025-66244015	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
7	esv3332492	chr11:66233476-66235774	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
8	nsv468601	chr11:66234023-66296114	Strong transcription Flanking Active TSS Genic enhancers Enhancers Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
9	nsv555224	chr11:66234023-66296114	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
10	nsv522277	chr11:66234023-66493825	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	94 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	chr11:66233000-66235000	Enhancers	Fetal Brain Male	brain
2	chr11:66233200-66234800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr11:66233200-66235000	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr11:66233200-66235000	Active TSS	H9 Cell Line	embryonic stem cell
5	chr11:66233200-66235200	Active TSS	HUES48 Cell Line	embryonic stem cell
6	chr11:66233200-66235200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr11:66233400-66234800	Active TSS	Brain Anterior Caudate	brain
8	chr11:66233400-66234800	Active TSS	Rectal Mucosa Donor 29	rectum
9	chr11:66233400-66235000	Active TSS	HUES64 Cell Line	embryonic stem cell
10	chr11:66233400-66235000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr11:66233400-66235000	Active TSS	Primary T cells from cord blood	blood
12	chr11:66233400-66235000	Active TSS	Fetal Kidney	kidney
13	chr11:66233400-66235200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
14	chr11:66233600-66234600	Active TSS	Colonic Mucosa	Colon
15	chr11:66233600-66234800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr11:66233600-66234800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
17	chr11:66233600-66234800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr11:66233600-66234800	Active TSS	Rectal Mucosa Donor 31	rectum
19	chr11:66233600-66234800	Active TSS	Thymus	Thymus
20	chr11:66233600-66234800	Active TSS	NHEK	skin
21	chr11:66233600-66235000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
22	chr11:66233600-66235000	Active TSS	H1 Cell Line	embryonic stem cell
23	chr11:66233600-66235000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr11:66233600-66235000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr11:66233600-66235000	Active TSS	HUES6 Cell Line	embryonic stem cell
26	chr11:66233600-66235000	Active TSS	iPS-18 Cell Line	embryonic stem cell
27	chr11:66233600-66235000	Active TSS	iPS-20b Cell Line	embryonic stem cell
28	chr11:66233600-66235000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr11:66233600-66235000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr11:66233600-66235000	Active TSS	Breast Myoepithelial Primary Cells	Breast
31	chr11:66233600-66235000	Active TSS	Brain Angular Gyrus	brain
32	chr11:66233600-66235000	Active TSS	Brain Cingulate Gyrus	brain
33	chr11:66233600-66235000	Active TSS	Brain Hippocampus Middle	brain
34	chr11:66233600-66235000	Active TSS	Brain Inferior Temporal Lobe	brain
35	chr11:66233600-66235000	Active TSS	Brain Substantia Nigra	brain
36	chr11:66233600-66235000	Active TSS	Esophagus	oesophagus
37	chr11:66233600-66235000	Active TSS	Gastric	stomach
38	chr11:66233600-66235000	Active TSS	Placenta Amnion	Placenta Amnion
39	chr11:66233600-66235000	Active TSS	Rectal Smooth Muscle	rectum
40	chr11:66233600-66235000	Active TSS	A549	lung
41	chr11:66233600-66235200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr11:66233600-66235200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr11:66233600-66235200	Active TSS	iPS-15b Cell Line	embryonic stem cell
44	chr11:66233600-66235200	Active TSS	Pancreatic Islets	Pancreatic Islet
45	chr11:66233600-66235200	Active TSS	Ovary	ovary
46	chr11:66233800-66234600	Active TSS	Sigmoid Colon	Sigmoid Colon
47	chr11:66233800-66234800	Active TSS	Primary T helper naive cells from peripheral blood	blood
48	chr11:66233800-66234800	Active TSS	Adipose Nuclei	Adipose
49	chr11:66233800-66234800	Active TSS	Lung	lung
50	chr11:66233800-66234800	Active TSS	Psoas Muscle	Psoas

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