Variant report

Variant	rs548261595
Chromosome Location	chr11:32914244-32914245
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	POLR2A	chr11:32912519-32914604	MCF10A-Er-Src	breast:	n/a	n/a
2	E2F1	chr11:32913840-32914610	Hela-S3	cervix:	n/a	chr11:32914128-32914140 chr11:32914342-32914354 chr11:32914516-32914528 chr11:32914314-32914323
3	REST	chr11:32913822-32914333	K562	blood:	n/a	chr11:32914105-32914114
4	SRF	chr11:32914191-32914310	HepG2	liver:	n/a	n/a
5	HEY1	chr11:32913868-32914629	K562	blood:	n/a	chr11:32914291-32914306 chr11:32914271-32914286
6	GTF2F1	chr11:32913787-32914305	H1-hESC	embryonic stem cell:	n/a	n/a
7	MYC	chr11:32913345-32916042	K562	blood:	n/a	n/a
8	TCF3	chr11:32914043-32914292	GM12878	blood:	n/a	n/a
9	JUND	chr11:32913997-32914300	H1-hESC	embryonic stem cell:	n/a	chr11:32914271-32914280
10	GATA3	chr11:32913699-32914565	A549	lung:	n/a	chr11:32913814-32913824
11	CREB1	chr11:32913880-32915542	A549	lung:	n/a	n/a
12	POLR2A	chr11:32913062-32914524	PBDE	blood:	n/a	n/a
13	PAX5	chr11:32913829-32914364	GM12878	blood:	n/a	n/a
14	POLR2A	chr11:32912839-32916202	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr11:32913294-32916128	GM12892	blood:	n/a	n/a
16	MYC	chr11:32913762-32914600	K562	blood:	n/a	n/a
17	CHD2	chr11:32913395-32916119	Hela-S3	cervix:	n/a	chr11:32914978-32914988 chr11:32914345-32914355 chr11:32915013-32915023
18	POLR2A	chr11:32913858-32915452	HUVEC	blood vessel:	n/a	n/a
19	POLR2A	chr11:32913777-32914307	H1-hESC	embryonic stem cell:	n/a	n/a
20	TAF1	chr11:32913715-32914554	Hela-S3	cervix:	n/a	n/a
21	POLR2A	chr11:32912908-32914613	GM12891	blood:	n/a	n/a
22	CHD2	chr11:32913695-32914464	HepG2	liver:	n/a	chr11:32914345-32914355
23	POLR2A	chr11:32913723-32914361	GM12891	blood:	n/a	n/a
24	BACH1	chr11:32913665-32914328	H1-hESC	embryonic stem cell:	n/a	n/a
25	HCFC1	chr11:32912020-32914649	Hela-S3	cervix:	n/a	n/a
26	TBL1XR1	chr11:32913285-32914244	K562	blood:	n/a	n/a
27	SMARCB1	chr11:32913835-32915606	Hela-S3	cervix:	n/a	n/a
28	REST	chr11:32913935-32914343	PANC-1	pancreas:	n/a	chr11:32914105-32914114
29	RFX5	chr11:32913828-32914341	HepG2	liver:	n/a	n/a
30	POLR2A	chr11:32913468-32916041	GM18951	blood:	n/a	n/a
31	POLR2A	chr11:32913000-32916056	K562	blood:	n/a	n/a
32	HDAC2	chr11:32913922-32914493	K562	blood:	n/a	n/a
33	ELF1	chr11:32913627-32914435	K562	blood:	n/a	chr11:32914113-32914124 chr11:32914192-32914204 chr11:32914336-32914348
34	TAF1	chr11:32913734-32914568	H1-neurons	neurons:	n/a	n/a
35	POLR2A	chr11:32913362-32914643	K562	blood:	n/a	n/a
36	POLR2A	chr11:32913313-32914667	HUVEC	blood vessel:	n/a	n/a
37	POLR2A	chr11:32913337-32914501	U87	brain:	n/a	n/a
38	STAT5A	chr11:32913667-32914299	GM12878	blood:	n/a	chr11:32914037-32914049
39	E2F4	chr11:32913596-32914326	MCF10A-Er-Src	breast:	n/a	chr11:32914129-32914140 chr11:32914128-32914140 chr11:32914314-32914323
40	TAF1	chr11:32913896-32915137	HepG2	liver:	n/a	n/a
41	REST	chr11:32913961-32914327	SK-N-SH	brain:	n/a	chr11:32914105-32914114
42	REST	chr11:32913846-32914302	GM12878	blood:	n/a	chr11:32914105-32914114
43	REST	chr11:32913886-32914306	PANC-1	pancreas:	n/a	chr11:32914105-32914114
44	MAX	chr11:32913679-32916230	HCT-116	colon:	n/a	n/a
45	CREB1	chr11:32913732-32915487	HepG2	liver:	n/a	n/a
46	FOXP2	chr11:32913967-32914578	PFSK-1	brain:	n/a	n/a
47	MAX	chr11:32913537-32916126	A549	lung:	n/a	n/a
48	CCNT2	chr11:32913495-32915479	K562	blood:	n/a	chr11:32913707-32913716 chr11:32914042-32914051
49	STAT1	chr11:32913785-32914277	GM12878	blood:	n/a	chr11:32914037-32914049
50	REST	chr11:32913880-32914320	A549	lung:	n/a	chr11:32914105-32914114

No.	Distal block	Cell Line	Cell type
1	chr11:32913861..32915566-chr11:33278350..33280856,3	K562	blood:
2	chr11:32912742..32915744-chr11:33035300..33038153,5	K562	blood:
3	chr11:32914073..32914891-chr6:27858213..27859098,2	HCT-116	colon:
4	chr11:32914076..32914799-chr6:26123502..26124171,2	Hela-S3	cervix:
5	chr11:32900766..32903313-chr11:32912451..32914688,2	K562	blood:
6	chr11:32912008..32915658-chr11:33059663..33062231,5	K562	blood:
7	chr11:32914014..32915010-chr5:10249637..10250329,2	Hela-S3	cervix:
8	chr11:32911083..32916400-chr11:33180278..33184105,5	K562	blood:
9	chr1:247095122..247095967-chr11:32913877..32914747,2	Hela-S3	cervix:
10	chr11:32913837..32914707-chr6:31587711..31588295,2	Hela-S3	cervix:
11	chr11:32912801..32916780-chr11:33060030..33062962,4	MCF-7	breast:
12	chr11:32914059..32914697-chr5:64064672..64065341,2	Hela-S3	cervix:
13	chr11:32913171..32916144-chr11:33182605..33184521,3	K562	blood:
14	chr11:32914066..32915835-chr11:33278115..33280779,2	K562	blood:
15	chr11:32913873..32915883-chr11:32948167..32950423,2	MCF-7	breast:
16	chr11:32913570..32915679-chr11:32955397..32958065,2	MCF-7	breast:
17	chr11:32849868..32852880-chr11:32911360..32916794,6	MCF-7	breast:
18	chr11:32914186..32915173-chr9:34178494..34179034,2	NB4	blood:
19	chr11:32850001..32854483-chr11:32912810..32915962,5	MCF-7	breast:
20	chr11:32912949..32915416-chr11:33278689..33280447,2	MCF-7	breast:
21	chr11:32455369..32457971-chr11:32914210..32916339,2	K562	blood:
22	chr11:32912677..32916677-chr11:32946348..32949783,4	K562	blood:

Variant related genes	Relation type
QSER1	TF binding region
ENSG00000176102	Chromatin interaction
ENSG00000153207	Chromatin interaction
ENSG00000180596	Chromatin interaction
ENSG00000165006	Chromatin interaction
ENSG00000110422	Chromatin interaction
ENSG00000150753	Chromatin interaction
ENSG00000183242	Chromatin interaction
ENSG00000135378	Chromatin interaction
ENSG00000247151	Chromatin interaction
ENSG00000150756	Chromatin interaction
ENSG00000197153	Chromatin interaction
ENSG00000121690	Chromatin interaction
ENSG00000060749	Chromatin interaction
ENSG00000153015	Chromatin interaction
ENSG00000184937	Chromatin interaction
ENSG00000176148	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758262	chr11:32714643-33049940	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
2	esv2759815	chr11:32714643-33049940	Flanking Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
3	esv2757434	chr11:32792784-32958609	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
4	esv34742	chr11:32796092-33004024	Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
5	esv2753057	chr11:32796124-33061724	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
6	esv2753743	chr11:32796124-33084924	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
7	nsv897190	chr11:32801921-32951836	Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
8	esv3442158	chr11:32913401-32916249	Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	24 gene(s)	inside rSNPs	diseases
9	esv3326302	chr11:32913576-32915824	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	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	chr11:32912200-32916400	Active TSS	HUES48 Cell Line	embryonic stem cell
2	chr11:32912600-32917000	Active TSS	HUES6 Cell Line	embryonic stem cell
3	chr11:32912600-32917000	Active TSS	iPS-20b Cell Line	embryonic stem cell
4	chr11:32912800-32916200	Active TSS	H9 Cell Line	embryonic stem cell
5	chr11:32912800-32916600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr11:32912800-32917200	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr11:32912800-32917200	Active TSS	H1 Cell Line	embryonic stem cell
8	chr11:32913000-32916200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr11:32913000-32916200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
10	chr11:32913000-32916200	Active TSS	Pancreatic Islets	Pancreatic Islet
11	chr11:32913000-32916400	Active TSS	iPS-18 Cell Line	embryonic stem cell
12	chr11:32913000-32916800	Active TSS	HUES64 Cell Line	embryonic stem cell
13	chr11:32913000-32916800	Active TSS	iPS-15b Cell Line	embryonic stem cell
14	chr11:32913000-32917000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr11:32913000-32917200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
16	chr11:32913200-32916000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr11:32913200-32916200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr11:32913200-32916400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr11:32913200-32916400	Active TSS	NHDF-Ad	bronchial
20	chr11:32913400-32914400	Active TSS	Right Atrium	heart
21	chr11:32913400-32915000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr11:32913400-32915000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr11:32913400-32915200	Active TSS	Fetal Brain Female	brain
24	chr11:32913400-32915800	Active TSS	Brain Hippocampus Middle	brain
25	chr11:32913400-32916000	Active TSS	Aorta	Aorta
26	chr11:32913400-32916000	Active TSS	Skeletal Muscle Male	skeletal muscle
27	chr11:32913400-32916200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr11:32913400-32916200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr11:32913400-32916200	Active TSS	Fetal Muscle Trunk	muscle
30	chr11:32913400-32916200	Active TSS	Fetal Stomach	stomach
31	chr11:32913400-32916200	Active TSS	Right Ventricle	heart
32	chr11:32913400-32916400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr11:32913400-32916400	Active TSS	Psoas Muscle	Psoas
34	chr11:32913400-32916400	Active TSS	NHLF	lung
35	chr11:32913400-32916600	Active TSS	Breast Myoepithelial Primary Cells	Breast
36	chr11:32913400-32916600	Active TSS	HSMMtube	muscle
37	chr11:32913400-32916800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr11:32913400-32917400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr11:32913600-32915000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr11:32913600-32915000	Active TSS	HepG2	liver
41	chr11:32913600-32915200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
42	chr11:32913600-32915800	Active TSS	Brain Angular Gyrus	brain
43	chr11:32913600-32915800	Active TSS	Brain Cingulate Gyrus	brain
44	chr11:32913600-32915800	Active TSS	Sigmoid Colon	Sigmoid Colon
45	chr11:32913600-32915800	Active TSS	Skeletal Muscle Female	skeletal muscle
46	chr11:32913600-32916000	Active TSS	Brain Anterior Caudate	brain
47	chr11:32913600-32916000	Active TSS	Brain Inferior Temporal Lobe	brain
48	chr11:32913600-32916000	Active TSS	Brain Substantia Nigra	brain
49	chr11:32913600-32916000	Active TSS	Esophagus	oesophagus
50	chr11:32913600-32916000	Active TSS	Left Ventricle	heart

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