Variant report

Variant	rs531537282
Chromosome Location	chr11:66233950-66233951
allele	C/T
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	SP4	chr11:66233896-66234448	H1-hESC	embryonic stem cell:	n/a	chr11:66234323-66234339 chr11:66234321-66234337 chr11:66234195-66234211 chr11:66234303-66234319 chr11:66233916-66233927
2	POLR2A	chr11:66233702-66234536	HL-60	blood:	n/a	n/a
3	TCF12	chr11:66233780-66234321	A549	lung:	n/a	n/a
4	SIN3A	chr11:66233878-66234334	GM12878	blood:	n/a	chr11:66234281-66234294
5	TBP	chr11:66233822-66234191	H1-hESC	embryonic stem cell:	n/a	n/a
6	TBP	chr11:66233874-66234232	GM12878	blood:	n/a	n/a
7	POLR2A	chr11:66233717-66233969	H1-hESC	embryonic stem cell:	n/a	n/a
8	CREB1	chr11:66233897-66234600	GM12878	blood:	n/a	n/a
9	SP1	chr11:66233419-66234457	H1-hESC	embryonic stem cell:	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
10	CTCF	chr11:66233820-66233970	NHDF-neo	bronchial:	n/a	n/a
11	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
12	STAT5A	chr11:66233824-66234271	GM12878	blood:	n/a	n/a
13	MAX	chr11:66233762-66235170	MCF-7	breast:	n/a	n/a
14	EP300	chr11:66233836-66234199	GM12878	blood:	n/a	n/a
15	HEY1	chr11:66233918-66234617	HepG2	liver:	n/a	chr11:66234401-66234416
16	POLR2A	chr11:66233756-66234575	NB4	blood:	n/a	n/a
17	MAZ	chr11:66233876-66234893	HepG2	liver:	n/a	n/a
18	POLR2A	chr11:66233866-66234592	ProgFib	skin:	n/a	n/a
19	POLR2A	chr11:66233856-66234814	ECC-1	luminal epithelium:	n/a	n/a
20	TBL1XR1	chr11:66233847-66234314	GM12878	blood:	n/a	n/a
21	POLR2A	chr11:66233900-66234583	HCT-116	colon:	n/a	n/a
22	BACH1	chr11:66233920-66234843	H1-hESC	embryonic stem cell:	n/a	n/a
23	POLR2A	chr11:66233921-66234771	MCF-7	breast:	n/a	n/a
24	MAX	chr11:66233670-66234403	NB4	blood:	n/a	n/a
25	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
26	POLR2A	chr11:66233551-66234324	H1-hESC	embryonic stem cell:	n/a	n/a
27	ZNF143	chr11:66233933-66234426	GM12878	blood:	n/a	n/a
28	SP1	chr11:66233869-66234378	H1-hESC	embryonic stem cell:	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
29	RUNX3	chr11:66233676-66234315	GM12878	blood:	n/a	n/a
30	CHD2	chr11:66233866-66234455	GM12878	blood:	n/a	n/a
31	RUNX3	chr11:66233915-66234379	GM12878	blood:	n/a	n/a
32	POLR2A	chr11:66233907-66234556	GM12892	blood:	n/a	n/a
33	ZBTB7A	chr11:66233599-66234227	K562	blood:	n/a	chr11:66233679-66233686 chr11:66234217-66234224
34	TAF1	chr11:66233681-66234588	ECC-1	luminal epithelium:	n/a	n/a
35	POLR2A	chr11:66233889-66234737	HCT-116	colon:	n/a	n/a
36	POLR2A	chr11:66233733-66234503	SK-N-MC	brain:	n/a	n/a
37	POLR2A	chr11:66233807-66234129	H1-hESC	embryonic stem cell:	n/a	n/a
38	CREB1	chr11:66233688-66235152	HepG2	liver:	n/a	n/a
39	SP1	chr11:66233944-66234434	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
40	ZBTB7A	chr11:66233722-66234917	K562	blood:	n/a	chr11:66234217-66234224
41	POLR2A	chr11:66233900-66234586	PFSK-1	brain:	n/a	n/a
42	SIN3AK20	chr11:66233836-66235067	PANC-1	pancreas:	n/a	n/a
43	REST	chr11:66233940-66234161	Hela-S3	cervix:	n/a	n/a
44	MYC	chr11:66233476-66234763	NB4	blood:	n/a	n/a
45	TAF1	chr11:66233741-66233952	H1-hESC	embryonic stem cell:	n/a	n/a
46	YY1	chr11:66233816-66234522	HepG2	liver:	n/a	chr11:66234397-66234411 chr11:66233845-66233856 chr11:66234403-66234417 chr11:66234400-66234414
47	MYC	chr11:66233879-66234177	H1-hESC	embryonic stem cell:	n/a	n/a
48	CHD2	chr11:66233831-66234365	H1-hESC	embryonic stem cell:	n/a	n/a
49	TCF12	chr11:66233798-66234368	ECC-1	luminal epithelium:	n/a	n/a
50	CTCF	chr11:66233940-66234090	HBMEC	blood vessel:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:66233905-66233955	Hepatocyte	liver:	n/a
2	chr11:66233905-66233955	Jurkat	blood:	n/a
3	chr11:66233905-66233955	H1-hESC	embryonic stem cell:	embryo
4	chr11:66233905-66233955	GM12891	blood:	n/a
5	chr11:66233905-66233955	MCF-7	breast:	n/a
6	chr11:66233905-66233955	HNPCEpiC	eye:	n/a
7	chr11:66233905-66233955	AoSMC	blood vessel:	n/a
8	chr11:66233905-66233955	HCT-116	colon:	n/a
9	chr11:66233905-66233955	HCPEpiC	choroid plexus:	n/a
10	chr11:66233905-66233955	HRPEpiC	eye:	n/a
11	chr11:66233905-66233955	AG09309	skin:	n/a
12	chr11:66233905-66233955	PFSK-1	brain:	n/a
13	chr11:66233905-66233955	HL-60	blood:	n/a
14	chr11:66233905-66233955	HIPEpiC	eye:	n/a
15	chr11:66233905-66233955	NHBE	bronchial:	n/a
16	chr11:66233905-66233955	K562	blood:	n/a
17	chr11:66233905-66233955	SK-N-MC	brain:	n/a
18	chr11:66233905-66233955	U87	brain:	n/a
19	chr11:66233905-66233955	AG09319	gingival:	n/a
20	chr11:66233905-66233955	BE2_C	brain:	n/a
21	chr11:66233905-66233955	HEK293	kidney:	embryo
22	chr11:66233905-66233955	AG04449	skin:	fetal
23	chr11:66233905-66233955	HEEpiC	esophagus:	n/a
24	chr11:66233905-66233955	GM06990	blood:	n/a
25	chr11:66233905-66233955	ovcar-3	ovarian:	n/a
26	chr11:66233905-66233955	NB4	blood:	n/a
27	chr11:66233905-66233955	BJ	skin:	n/a
28	chr11:66233905-66233955	HCF	heart:	n/a
29	chr11:66233905-66233955	NH-A	brain:	n/a
30	chr11:66233905-66233955	NHDF-neo	bronchial:	n/a
31	chr11:66233905-66233955	SK-N-SH	brain:	n/a
32	chr11:66233905-66233955	HCM	heart:	n/a
33	chr11:66233905-66233955	HRCEpiC	kidney:	n/a
34	chr11:66233905-66233955	SKMC	muscle:	n/a
35	chr11:66233905-66233955	Caco-2	colon:	n/a
36	chr11:66233905-66233955	HRE	kidney:	n/a
37	chr11:66233905-66233955	AG04450	lung:	fetal
38	chr11:66233905-66233955	GM19239	blood:	n/a
39	chr11:66233905-66233955	CMK	blood:	n/a
40	chr11:66233905-66233955	HUVEC	blood vessel:	n/a
41	chr11:66233905-66233955	LNCaP	prostate:	n/a
42	chr11:66233905-66233955	Hela-S3	cervix:	n/a
43	chr11:66233905-66233955	PANC-1	pancreas:	n/a
44	chr11:66233905-66233955	GM12878	blood:	n/a
45	chr11:66233905-66233955	GM12892	blood:	n/a
46	chr11:66233905-66233955	HepG2	liver:	n/a
47	chr11:66233905-66233955	SAEC	small airway:	n/a
48	chr11:66233905-66233955	SK-N-SH_RA	brain:	n/a
49	chr11:66233905-66233955	T-47D	breast:	n/a
50	chr11:66233905-66233955	HMEC	breast:	n/a

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:

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

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 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

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66232400-66234000	Enhancers	HSMMtube	muscle
2	chr11:66233000-66234000	Flanking Active TSS	GM12878-XiMat	blood
3	chr11:66233000-66235000	Enhancers	Fetal Brain Male	brain
4	chr11:66233200-66234000	Flanking Active TSS	Stomach Smooth Muscle	stomach
5	chr11:66233200-66234800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr11:66233200-66235000	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr11:66233200-66235000	Active TSS	H9 Cell Line	embryonic stem cell
8	chr11:66233200-66235200	Active TSS	HUES48 Cell Line	embryonic stem cell
9	chr11:66233200-66235200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr11:66233400-66234000	Flanking Active TSS	Primary B cells from cord blood	blood
11	chr11:66233400-66234000	Flanking Active TSS	Primary B cells from peripheral blood	blood
12	chr11:66233400-66234000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
13	chr11:66233400-66234000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr11:66233400-66234000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr11:66233400-66234000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr11:66233400-66234000	Active TSS	Fetal Lung	lung
17	chr11:66233400-66234000	Flanking Active TSS	Hela-S3	cervix
18	chr11:66233400-66234200	Flanking Active TSS	Primary hematopoietic stem cells	blood
19	chr11:66233400-66234200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr11:66233400-66234200	Flanking Active TSS	Fetal Thymus	thymus
21	chr11:66233400-66234200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
22	chr11:66233400-66234800	Active TSS	Brain Anterior Caudate	brain
23	chr11:66233400-66234800	Active TSS	Rectal Mucosa Donor 29	rectum
24	chr11:66233400-66235000	Active TSS	HUES64 Cell Line	embryonic stem cell
25	chr11:66233400-66235000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr11:66233400-66235000	Active TSS	Primary T cells from cord blood	blood
27	chr11:66233400-66235000	Active TSS	Fetal Kidney	kidney
28	chr11:66233400-66235200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
29	chr11:66233600-66234000	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr11:66233600-66234000	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr11:66233600-66234000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr11:66233600-66234000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr11:66233600-66234000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
34	chr11:66233600-66234000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
35	chr11:66233600-66234000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
36	chr11:66233600-66234000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
37	chr11:66233600-66234000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
38	chr11:66233600-66234000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
39	chr11:66233600-66234000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr11:66233600-66234000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr11:66233600-66234000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr11:66233600-66234000	Flanking Active TSS	Duodenum Mucosa	Duodenum
43	chr11:66233600-66234000	Flanking Active TSS	Fetal Heart	heart
44	chr11:66233600-66234000	Flanking Active TSS	Fetal Muscle Leg	muscle
45	chr11:66233600-66234000	Flanking Active TSS	HMEC	breast
46	chr11:66233600-66234200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
47	chr11:66233600-66234200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
48	chr11:66233600-66234200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
49	chr11:66233600-66234200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr11:66233600-66234200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin

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