Variant report

Variant	rs546957677
Chromosome Location	chr11:45907106-45907107
allele	G/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	REST	chr11:45906752-45907408	GM12878	blood:	n/a	chr11:45907084-45907098 chr11:45907088-45907101 chr11:45907086-45907096 chr11:45907084-45907104 chr11:45907091-45907104 chr11:45907084-45907104 chr11:45907085-45907103 chr11:45907084-45907104 chr11:45907217-45907227 chr11:45907088-45907101 chr11:45907212-45907225
2	POLR2A	chr11:45906735-45907357	ProgFib	skin:	n/a	n/a
3	REST	chr11:45906340-45907748	SK-N-SH	brain:	n/a	chr11:45907084-45907098 chr11:45907088-45907101 chr11:45907086-45907096 chr11:45907084-45907104 chr11:45907608-45907617 chr11:45907091-45907104 chr11:45907084-45907104 chr11:45907085-45907103 chr11:45907084-45907104 chr11:45907217-45907227 chr11:45907088-45907101 chr11:45907212-45907225
4	TAF1	chr11:45907004-45908021	H1-neurons	neurons:	n/a	n/a
5	REST	chr11:45906014-45907575	PFSK-1	brain:	n/a	chr11:45907084-45907098 chr11:45907088-45907101 chr11:45907086-45907096 chr11:45907084-45907104 chr11:45907091-45907104 chr11:45907084-45907104 chr11:45907085-45907103 chr11:45907084-45907104 chr11:45907217-45907227 chr11:45907088-45907101 chr11:45907212-45907225
6	REST	chr11:45906774-45907469	PANC-1	pancreas:	n/a	chr11:45907084-45907098 chr11:45907088-45907101 chr11:45907086-45907096 chr11:45907084-45907104 chr11:45907091-45907104 chr11:45907084-45907104 chr11:45907085-45907103 chr11:45907084-45907104 chr11:45907217-45907227 chr11:45907088-45907101 chr11:45907212-45907225
7	ZNF143	chr11:45906907-45907240	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr11:45906694-45908172	H1-neurons	neurons:	n/a	n/a
9	REST	chr11:45906462-45907299	PANC-1	pancreas:	n/a	chr11:45907084-45907098 chr11:45907088-45907101 chr11:45907086-45907096 chr11:45907084-45907104 chr11:45907091-45907104 chr11:45907084-45907104 chr11:45907085-45907103 chr11:45907084-45907104 chr11:45907217-45907227 chr11:45907088-45907101 chr11:45907212-45907225
10	REST	chr11:45906529-45907486	HCT-116	colon:	n/a	chr11:45907084-45907098 chr11:45907088-45907101 chr11:45907086-45907096 chr11:45907084-45907104 chr11:45907091-45907104 chr11:45907084-45907104 chr11:45907085-45907103 chr11:45907084-45907104 chr11:45907217-45907227 chr11:45907088-45907101 chr11:45907212-45907225
11	POLR2A	chr11:45907099-45907384	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr11:45906878-45907112	ECC-1	luminal epithelium:	n/a	n/a
13	RAD21	chr11:45906842-45907121	SK-N-SH_RA	brain:	n/a	chr11:45907009-45907023
14	TAF7	chr11:45906840-45907407	H1-hESC	embryonic stem cell:	n/a	n/a
15	ELF1	chr11:45906870-45907219	K562	blood:	n/a	n/a
16	REST	chr11:45906801-45907416	HepG2	liver:	n/a	chr11:45907084-45907098 chr11:45907088-45907101 chr11:45907086-45907096 chr11:45907084-45907104 chr11:45907091-45907104 chr11:45907084-45907104 chr11:45907085-45907103 chr11:45907084-45907104 chr11:45907217-45907227 chr11:45907088-45907101 chr11:45907212-45907225
17	MAX	chr11:45906816-45907275	H1-hESC	embryonic stem cell:	n/a	n/a
18	REST	chr11:45906565-45907473	Hela-S3	cervix:	n/a	chr11:45907084-45907098 chr11:45907088-45907101 chr11:45907086-45907096 chr11:45907084-45907104 chr11:45907091-45907104 chr11:45907084-45907104 chr11:45907085-45907103 chr11:45907084-45907104 chr11:45907217-45907227 chr11:45907088-45907101 chr11:45907212-45907225
19	RCOR1	chr11:45906725-45907399	K562	blood:	n/a	n/a
20	REST	chr11:45906557-45907626	MCF-7	breast:	n/a	chr11:45907084-45907098 chr11:45907088-45907101 chr11:45907086-45907096 chr11:45907084-45907104 chr11:45907608-45907617 chr11:45907091-45907104 chr11:45907084-45907104 chr11:45907085-45907103 chr11:45907084-45907104 chr11:45907217-45907227 chr11:45907088-45907101 chr11:45907212-45907225
21	REST	chr11:45905656-45907847	U87	brain:	n/a	chr11:45905952-45905960 chr11:45907084-45907098 chr11:45907088-45907101 chr11:45907086-45907096 chr11:45907084-45907104 chr11:45907608-45907617 chr11:45907091-45907104 chr11:45907084-45907104 chr11:45905846-45905859 chr11:45907085-45907103 chr11:45907084-45907104 chr11:45907217-45907227 chr11:45907088-45907101 chr11:45907212-45907225
22	RCOR1	chr11:45906469-45907347	IMR90	lung:	n/a	n/a
23	ZNF143	chr11:45906907-45907230	K562	blood:	n/a	n/a
24	REST	chr11:45906488-45907607	PANC-1	pancreas:	n/a	chr11:45907084-45907098 chr11:45907088-45907101 chr11:45907086-45907096 chr11:45907084-45907104 chr11:45907091-45907104 chr11:45907084-45907104 chr11:45907085-45907103 chr11:45907084-45907104 chr11:45907217-45907227 chr11:45907088-45907101 chr11:45907212-45907225
25	MAZ	chr11:45906891-45907399	Hela-S3	cervix:	n/a	n/a
26	TBP	chr11:45906870-45907412	K562	blood:	n/a	n/a
27	REST	chr11:45906523-45907501	PANC-1	pancreas:	n/a	chr11:45907084-45907098 chr11:45907088-45907101 chr11:45907086-45907096 chr11:45907084-45907104 chr11:45907091-45907104 chr11:45907084-45907104 chr11:45907085-45907103 chr11:45907084-45907104 chr11:45907217-45907227 chr11:45907088-45907101 chr11:45907212-45907225
28	MAZ	chr11:45906822-45907516	K562	blood:	n/a	n/a
29	MAX	chr11:45906901-45907388	Hela-S3	cervix:	n/a	n/a
30	POLR2A	chr11:45905173-45907133	Hela-S3	cervix:	n/a	n/a
31	SP4	chr11:45906837-45907165	H1-hESC	embryonic stem cell:	n/a	n/a
32	REST	chr11:45906463-45907434	GM12878	blood:	n/a	chr11:45907084-45907098 chr11:45907088-45907101 chr11:45907086-45907096 chr11:45907084-45907104 chr11:45907091-45907104 chr11:45907084-45907104 chr11:45907085-45907103 chr11:45907084-45907104 chr11:45907217-45907227 chr11:45907088-45907101 chr11:45907212-45907225
33	REST	chr11:45906533-45907560	HCT-116	colon:	n/a	chr11:45907084-45907098 chr11:45907088-45907101 chr11:45907086-45907096 chr11:45907084-45907104 chr11:45907091-45907104 chr11:45907084-45907104 chr11:45907085-45907103 chr11:45907084-45907104 chr11:45907217-45907227 chr11:45907088-45907101 chr11:45907212-45907225
34	ZNF143	chr11:45906866-45907322	GM12878	blood:	n/a	n/a
35	SIN3AK20	chr11:45906884-45907139	PFSK-1	brain:	n/a	n/a
36	REST	chr11:45906020-45908020	HL-60	blood:	n/a	chr11:45907084-45907098 chr11:45907088-45907101 chr11:45907086-45907096 chr11:45907084-45907104 chr11:45907608-45907617 chr11:45907091-45907104 chr11:45907084-45907104 chr11:45907085-45907103 chr11:45907084-45907104 chr11:45907217-45907227 chr11:45907088-45907101 chr11:45907212-45907225
37	EGR1	chr11:45906819-45907669	K562	blood:	n/a	chr11:45907583-45907593 chr11:45907582-45907593 chr11:45907577-45907599 chr11:45907582-45907593 chr11:45907581-45907594 chr11:45907538-45907551 chr11:45907583-45907593 chr11:45907481-45907491 chr11:45907581-45907595 chr11:45907537-45907547
38	REST	chr11:45906434-45908314	H1-neurons	neurons:	n/a	chr11:45907084-45907098 chr11:45907088-45907101 chr11:45907086-45907096 chr11:45908184-45908197 chr11:45907084-45907104 chr11:45907608-45907617 chr11:45907091-45907104 chr11:45907084-45907104 chr11:45907085-45907103 chr11:45907084-45907104 chr11:45907217-45907227 chr11:45907088-45907101 chr11:45907212-45907225
39	RCOR1	chr11:45906872-45907212	Hela-S3	cervix:	n/a	n/a
40	SIN3AK20	chr11:45906872-45907497	K562	blood:	n/a	n/a
41	MAX	chr11:45906969-45907131	K562	blood:	n/a	n/a
42	RAD21	chr11:45906875-45907470	ECC-1	luminal epithelium:	n/a	chr11:45907009-45907023
43	JUND	chr11:45906813-45907146	H1-hESC	embryonic stem cell:	n/a	n/a
44	ELF1	chr11:45906794-45907460	GM12878	blood:	n/a	chr11:45907273-45907282
45	POLR2A	chr11:45906910-45907116	HUVEC	blood vessel:	n/a	n/a
46	TCF12	chr11:45906905-45907375	H1-hESC	embryonic stem cell:	n/a	n/a
47	REST	chr11:45905568-45908197	PFSK-1	brain:	n/a	chr11:45905952-45905960 chr11:45907084-45907098 chr11:45907088-45907101 chr11:45907086-45907096 chr11:45908184-45908197 chr11:45907084-45907104 chr11:45907608-45907617 chr11:45907091-45907104 chr11:45907084-45907104 chr11:45905846-45905859 chr11:45907085-45907103 chr11:45907084-45907104 chr11:45907217-45907227 chr11:45907088-45907101 chr11:45907212-45907225
48	REST	chr11:45907004-45907136	PANC-1	pancreas:	n/a	chr11:45907084-45907098 chr11:45907088-45907101 chr11:45907086-45907096 chr11:45907084-45907104 chr11:45907091-45907104 chr11:45907084-45907104 chr11:45907085-45907103 chr11:45907084-45907104 chr11:45907088-45907101
49	HMGN3	chr11:45906923-45907607	K562	blood:	n/a	n/a
50	CHD2	chr11:45906850-45907147	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:45907069-45907119	AoSMC	blood vessel:	n/a
2	chr11:45907078-45907128	ProgFib	skin:	n/a
3	chr11:45907078-45907128	CMK	blood:	n/a
4	chr11:45907071-45907121	Hepatocyte	liver:	n/a
5	chr11:45907069-45907119	Hepatocyte	liver:	n/a
6	chr11:45907071-45907121	MCF10A-Er-Src	breast:	n/a
7	chr11:45907078-45907128	RPTEC	kidney:	n/a
8	chr11:45907069-45907119	SK-N-MC	brain:	n/a
9	chr11:45907071-45907121	HPAEpiC	pulmonary alveolar:	n/a
10	chr11:45907069-45907119	HCM	heart:	n/a
11	chr11:45907071-45907121	HL-60	blood:	n/a
12	chr11:45907069-45907119	NB4	blood:	n/a
13	chr11:45907069-45907119	AG10803	skin:	n/a
14	chr11:45907069-45907119	NH-A	brain:	n/a
15	chr11:45907071-45907121	AG09309	skin:	n/a
16	chr11:45907071-45907121	HUVEC	blood vessel:	n/a
17	chr11:45907071-45907121	NB4	blood:	n/a
18	chr11:45907069-45907119	SK-N-SH	brain:	n/a
19	chr11:45907071-45907121	HepG2	liver:	n/a
20	chr11:45907071-45907121	SKMC	muscle:	n/a
21	chr11:45907078-45907128	H1-hESC	embryonic stem cell:	embryo
22	chr11:45907071-45907121	NHBE	bronchial:	n/a
23	chr11:45907069-45907119	IMR90	lung:	fetal
24	chr11:45907078-45907128	NHBE	bronchial:	n/a
25	chr11:45907078-45907128	SK-N-SH	brain:	n/a
26	chr11:45907069-45907119	SK-N-SH_RA	brain:	n/a
27	chr11:45907078-45907128	Hepatocyte	liver:	n/a
28	chr11:45907069-45907119	Jurkat	blood:	n/a
29	chr11:45907069-45907119	NHBE	bronchial:	n/a
30	chr11:45907078-45907128	GM12891	blood:	n/a
31	chr11:45907078-45907128	MCF-7	breast:	n/a
32	chr11:45907071-45907121	GM06990	blood:	n/a
33	chr11:45907069-45907119	HNPCEpiC	eye:	n/a
34	chr11:45907069-45907119	HepG2	liver:	n/a
35	chr11:45907071-45907121	HIPEpiC	eye:	n/a
36	chr11:45907069-45907119	PrEC	prostate:	n/a
37	chr11:45907078-45907128	IMR90	lung:	fetal
38	chr11:45907069-45907119	MCF10A-Er-Src	breast:	n/a
39	chr11:45907069-45907119	GM19239	blood:	n/a
40	chr11:45907078-45907128	HCT-116	colon:	n/a
41	chr11:45907071-45907121	GM12878	blood:	n/a
42	chr11:45907069-45907119	AG04450	lung:	fetal
43	chr11:45907078-45907128	GM12892	blood:	n/a
44	chr11:45907071-45907121	GM12892	blood:	n/a
45	chr11:45907069-45907119	ECC-1	luminal epithelium:	n/a
46	chr11:45907078-45907128	HAEpiC	amniotic membrane:	n/a
47	chr11:45907078-45907128	HRPEpiC	eye:	n/a
48	chr11:45907071-45907121	K562	blood:	n/a
49	chr11:45907078-45907128	GM19239	blood:	n/a
50	chr11:45907069-45907119	K562	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:45868641..45870553-chr11:45905537..45909020,4	K562	blood:
2	chr11:45904999..45908778-chr11:45926674..45929138,4	MCF-7	breast:
3	chr11:45867854..45870393-chr11:45906869..45909551,2	MCF-7	breast:
4	chr11:45905425..45907108-chr11:45954120..45957048,2	K562	blood:
5	chr11:45868680..45870553-chr11:45907106..45909020,2	K562	blood:
6	chr11:45906755..45908288-chr11:45937921..45939853,2	MCF-7	breast:
7	chr11:45904585..45907305-chr11:45939491..45941669,2	K562	blood:

Variant related genes	Relation type
MAPK8IP1	TF binding region
MAPK8IP1	CpG island
ENSG00000255498	Chromatin interaction
ENSG00000121671	Chromatin interaction
ENSG00000234776	Chromatin interaction
ENSG00000121680	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897314	chr11:45816020-45965129	Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv1047462	chr11:45898630-45953696	Active TSS Genic enhancers Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv516442	chr11:45899962-45983385	Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	esv1794798	chr11:45903280-45953636	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
5	esv3435139	chr11:45906376-45908374	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:45895000-45907200	Weak transcription	HUVEC	blood vessel
2	chr11:45898800-45907200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:45903200-45907200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr11:45903200-45907200	Weak transcription	NHDF-Ad	bronchial
5	chr11:45905000-45907200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr11:45906400-45907400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr11:45906400-45907800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
8	chr11:45906600-45907400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
9	chr11:45906600-45907400	Enhancers	Placenta	Placenta
10	chr11:45906600-45907600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr11:45906600-45907600	Active TSS	Primary T cells from cord blood	blood
12	chr11:45906600-45907600	Enhancers	Stomach Mucosa	stomach
13	chr11:45906600-45907600	Bivalent/Poised TSS	HSMMtube	muscle
14	chr11:45906600-45907800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chr11:45906600-45908000	Active TSS	iPS-20b Cell Line	embryonic stem cell
16	chr11:45906600-45908000	Active TSS	Fetal Brain Female	brain
17	chr11:45906600-45908200	Active TSS	iPS-15b Cell Line	embryonic stem cell
18	chr11:45906600-45908200	Active TSS	Brain Angular Gyrus	brain
19	chr11:45906600-45908400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
20	chr11:45906600-45908400	Active TSS	Pancreatic Islets	Pancreatic Islet
21	chr11:45906800-45907200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
22	chr11:45906800-45907200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr11:45906800-45907200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr11:45906800-45907200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr11:45906800-45907200	Active TSS	Colonic Mucosa	Colon
26	chr11:45906800-45907200	Enhancers	Gastric	stomach
27	chr11:45906800-45907200	Enhancers	Spleen	Spleen
28	chr11:45906800-45907200	Enhancers	K562	blood
29	chr11:45906800-45907200	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
30	chr11:45906800-45907400	Flanking Active TSS	Primary B cells from cord blood	blood
31	chr11:45906800-45907400	Active TSS	Primary hematopoietic stem cells	blood
32	chr11:45906800-45907400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr11:45906800-45907400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr11:45906800-45907400	Enhancers	Aorta	Aorta
35	chr11:45906800-45907600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr11:45906800-45907600	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr11:45906800-45907600	Active TSS	Colon Smooth Muscle	Colon
38	chr11:45906800-45907600	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
39	chr11:45906800-45907600	Enhancers	Placenta Amnion	Placenta Amnion
40	chr11:45906800-45907600	Active TSS	Right Atrium	heart
41	chr11:45906800-45907600	Active TSS	A549	lung
42	chr11:45906800-45907600	Active TSS	HMEC	breast
43	chr11:45906800-45907600	Active TSS	HSMM	muscle
44	chr11:45906800-45907600	Active TSS	NHLF	lung
45	chr11:45906800-45907800	Active TSS	H1 Cell Line	embryonic stem cell
46	chr11:45906800-45907800	Active TSS	iPS-18 Cell Line	embryonic stem cell
47	chr11:45906800-45907800	Active TSS	HepG2	liver
48	chr11:45906800-45908200	Active TSS	H9 Cell Line	embryonic stem cell
49	chr11:45906800-45908200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
50	chr11:45907000-45907200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell

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