Variant report

Variant	rs537559298
Chromosome Location	chr11:74953122-74953123
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:73)
CpG islands
(count:61)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:73 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr11:74952029-74953350	A549	lung:	n/a	n/a
2	BHLHE40	chr11:74952360-74953143	K562	blood:	n/a	n/a
3	CTCF	chr11:74953097-74953176	GM19240	blood:	n/a	n/a
4	MYC	chr11:74952294-74953531	A549	lung:	n/a	n/a
5	REST	chr11:74951784-74953454	H1-neurons	neurons:	n/a	chr11:74953370-74953383 chr11:74952124-74952137 chr11:74952148-74952161 chr11:74952066-74952076 chr11:74952103-74952116
6	CTCF	chr11:74952519-74953206	K562	blood:	n/a	n/a
7	SIN3A	chr11:74951461-74953278	H1-hESC	embryonic stem cell:	n/a	chr11:74952307-74952320 chr11:74951502-74951516 chr11:74952067-74952076
8	E2F6	chr11:74952103-74953210	A549	lung:	n/a	chr11:74952355-74952364 chr11:74952329-74952338 chr11:74952505-74952517
9	POLR2A	chr11:74952132-74953187	MCF-7	breast:	n/a	n/a
10	JUN	chr11:74952189-74953323	K562	blood:	n/a	n/a
11	POLR2A	chr11:74952037-74953321	H1-neurons	neurons:	n/a	n/a
12	TCF3	chr11:74952594-74953261	GM12878	blood:	n/a	n/a
13	RAD21	chr11:74952406-74953227	SK-N-SH	brain:	n/a	n/a
14	RAD21	chr11:74952588-74953156	HCT-116	colon:	n/a	n/a
15	MYC	chr11:74952326-74953143	K562	blood:	n/a	n/a
16	RAD21	chr11:74952583-74953155	A549	lung:	n/a	n/a
17	MAZ	chr11:74952268-74953202	K562	blood:	n/a	n/a
18	CTCF	chr11:74952653-74953182	GM12892	blood:	n/a	n/a
19	MAX	chr11:74951783-74953204	HepG2	liver:	n/a	chr11:74951796-74951806 chr11:74951919-74951929
20	MAX	chr11:74952053-74953250	ECC-1	luminal epithelium:	n/a	n/a
21	E2F6	chr11:74951959-74953483	K562	blood:	n/a	chr11:74952080-74952090 chr11:74952355-74952364 chr11:74952329-74952338 chr11:74953362-74953374 chr11:74952505-74952517
22	FOXA2	chr11:74952559-74953169	A549	lung:	n/a	n/a
23	CTCF	chr11:74952574-74953161	A549	lung:	n/a	n/a
24	REST	chr11:74952557-74953133	PFSK-1	brain:	n/a	n/a
25	MAX	chr11:74952126-74953240	HCT-116	colon:	n/a	n/a
26	GABPA	chr11:74952471-74953288	H1-hESC	embryonic stem cell:	n/a	n/a
27	UBTF	chr11:74952149-74953136	K562	blood:	n/a	n/a
28	TEAD4	chr11:74952656-74953143	SK-N-SH	brain:	n/a	n/a
29	REST	chr11:74952572-74953164	PANC-1	pancreas:	n/a	n/a
30	CHD1	chr11:74952511-74953352	IMR90	lung:	n/a	n/a
31	E2F6	chr11:74952022-74953660	H1-hESC	embryonic stem cell:	n/a	chr11:74952080-74952090 chr11:74952355-74952364 chr11:74952329-74952338 chr11:74953362-74953374 chr11:74952505-74952517
32	REST	chr11:74952184-74953256	PFSK-1	brain:	n/a	n/a
33	MAX	chr11:74952105-74953193	A549	lung:	n/a	n/a
34	CTCF	chr11:74952517-74953164	HCT-116	colon:	n/a	n/a
35	CTCF	chr11:74951921-74953536	SK-N-SH	brain:	n/a	chr11:74952029-74952038 chr11:74952349-74952362 chr11:74952351-74952361 chr11:74952174-74952187
36	FOXP2	chr11:74952135-74953225	PFSK-1	brain:	n/a	n/a
37	HCFC1	chr11:74952597-74953210	K562	blood:	n/a	n/a
38	UBTF	chr11:74952034-74953166	K562	blood:	n/a	n/a
39	MAX	chr11:74952123-74953207	MCF-7	breast:	n/a	n/a
40	MXI1	chr11:74952420-74953288	IMR90	lung:	n/a	n/a
41	MAX	chr11:74952065-74953279	H1-hESC	embryonic stem cell:	n/a	n/a
42	RCOR1	chr11:74952228-74953134	K562	blood:	n/a	n/a
43	RAD21	chr11:74952502-74953129	H1-hESC	embryonic stem cell:	n/a	n/a
44	MAX	chr11:74952055-74953165	HepG2	liver:	n/a	n/a
45	E2F6	chr11:74952111-74953228	K562	blood:	n/a	chr11:74952355-74952364 chr11:74952329-74952338 chr11:74952505-74952517
46	CTCF	chr11:74952673-74953139	MCF-7	breast:	n/a	n/a
47	MAX	chr11:74952056-74953175	K562	blood:	n/a	n/a
48	REST	chr11:74952336-74953313	ECC-1	luminal epithelium:	n/a	n/a
49	CTCF	chr11:74952585-74953167	MCF-7	breast:	n/a	n/a
50	SMC3	chr11:74952027-74953312	SK-N-SH	brain:	n/a	chr11:74952352-74952362

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:74953082-74953132	HCM	heart:	n/a
2	chr11:74953082-74953132	ovcar-3	ovarian:	n/a
3	chr11:74953082-74953132	Hepatocyte	liver:	n/a
4	chr11:74953082-74953132	PrEC	prostate:	n/a
5	chr11:74953082-74953132	K562	blood:	n/a
6	chr11:74953082-74953132	MCF10A-Er-Src	breast:	n/a
7	chr11:74953082-74953132	Hela-S3	cervix:	n/a
8	chr11:74953082-74953132	BE2_C	brain:	n/a
9	chr11:74953082-74953132	HCPEpiC	choroid plexus:	n/a
10	chr11:74953082-74953132	ECC-1	luminal epithelium:	n/a
11	chr11:74953082-74953132	GM12891	blood:	n/a
12	chr11:74953082-74953132	SKMC	muscle:	n/a
13	chr11:74953082-74953132	AG09309	skin:	n/a
14	chr11:74953082-74953132	CMK	blood:	n/a
15	chr11:74953082-74953132	Caco-2	colon:	n/a
16	chr11:74953082-74953132	SK-N-SH	brain:	n/a
17	chr11:74953082-74953132	HRE	kidney:	n/a
18	chr11:74953082-74953132	HCT-116	colon:	n/a
19	chr11:74953082-74953132	GM06990	blood:	n/a
20	chr11:74953082-74953132	NB4	blood:	n/a
21	chr11:74953082-74953132	MCF-7	breast:	n/a
22	chr11:74953082-74953132	LNCaP	prostate:	n/a
23	chr11:74953082-74953132	GM12878	blood:	n/a
24	chr11:74953082-74953132	HEEpiC	esophagus:	n/a
25	chr11:74953082-74953132	NH-A	brain:	n/a
26	chr11:74953082-74953132	HAEpiC	amniotic membrane:	n/a
27	chr11:74953082-74953132	HepG2	liver:	n/a
28	chr11:74953082-74953132	AG04449	skin:	fetal
29	chr11:74953082-74953132	Jurkat	blood:	n/a
30	chr11:74953082-74953132	A549	lung:	n/a
31	chr11:74953082-74953132	HRCEpiC	kidney:	n/a
32	chr11:74953082-74953132	HPAEpiC	pulmonary alveolar:	n/a
33	chr11:74953082-74953132	RPTEC	kidney:	n/a
34	chr11:74953082-74953132	HL-60	blood:	n/a
35	chr11:74953082-74953132	SK-N-MC	brain:	n/a
36	chr11:74953082-74953132	HMEC	breast:	n/a
37	chr11:74953082-74953132	HUVEC	blood vessel:	n/a
38	chr11:74953082-74953132	SAEC	small airway:	n/a
39	chr11:74953082-74953132	HEK293	kidney:	embryo
40	chr11:74953082-74953132	U87	brain:	n/a
41	chr11:74953082-74953132	AG09319	gingival:	n/a
42	chr11:74953082-74953132	T-47D	breast:	n/a
43	chr11:74953082-74953132	GM19239	blood:	n/a
44	chr11:74953082-74953132	AG10803	skin:	n/a
45	chr11:74953082-74953132	AoSMC	blood vessel:	n/a
46	chr11:74953082-74953132	PANC-1	pancreas:	n/a
47	chr11:74953082-74953132	PFSK-1	brain:	n/a
48	chr11:74953082-74953132	AG04450	lung:	fetal
49	chr11:74953082-74953132	ProgFib	skin:	n/a
50	chr11:74953082-74953132	GM12892	blood:	n/a

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:74733622..74734624-chr11:74952400..74953312,9	MCF-7	breast:
2	chr11:74953050..74955146-chr11:75048496..75050415,2	K562	blood:
3	chr11:74920713..74922645-chr11:74953043..74955609,2	MCF-7	breast:
4	chr11:74742652..74743217-chr11:74952410..74953405,2	K562	blood:
5	chr11:74925000..74926013-chr11:74952324..74953354,12	MCF-7	breast:
6	chr11:74640083..74642436-chr11:74952777..74954746,3	MCF-7	breast:
7	chr11:74855250..74856195-chr11:74952793..74953318,2	K562	blood:
8	chr11:74952768..74954538-chr11:74955270..74959114,3	K562	blood:
9	chr11:74733402..74734825-chr11:74952350..74953292,7	K562	blood:
10	chr11:74659830..74661713-chr11:74952303..74954332,2	MCF-7	breast:
11	chr11:74733768..74734574-chr11:74952444..74953243,2	MCF-7	breast:
12	chr11:74855244..74856442-chr11:74952713..74953475,5	MCF-7	breast:
13	chr11:74657727..74660130-chr11:74951983..74953797,2	K562	blood:
14	chr11:74952691..74953296-chr11:75095152..75095848,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000255136	TF binding region
ENSG00000255136	CpG island
ENSG00000166435	Chromatin interaction
ENSG00000118363	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049887	chr11:74937977-75040438	Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv1036292	chr11:74937977-75059496	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	65 gene(s)	inside rSNPs	diseases
3	nsv1041640	chr11:74945824-75174688	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	94 gene(s)	inside rSNPs	diseases
4	nsv832211	chr11:74945839-75106125	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	66 gene(s)	inside rSNPs	diseases
5	esv3338705	chr11:74950304-74954802	Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	esv3357620	chr11:74951054-74954252	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	esv3416910	chr11:74951204-74954302	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	esv3322804	chr11:74951829-74954677	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:74951000-74953200	Active TSS	Brain Anterior Caudate	brain
2	chr11:74951000-74953400	Active TSS	Brain Angular Gyrus	brain
3	chr11:74951000-74953600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
4	chr11:74951400-74953200	Bivalent/Poised TSS	NHEK	skin
5	chr11:74951400-74953400	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr11:74951400-74953400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
7	chr11:74951400-74953400	Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr11:74951400-74953400	Active TSS	Right Atrium	heart
9	chr11:74951400-74953600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
10	chr11:74951400-74953600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr11:74951400-74953600	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr11:74951400-74953600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
13	chr11:74951400-74953600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
14	chr11:74951400-74953600	Enhancers	Liver	Liver
15	chr11:74951600-74953200	Active TSS	Primary T cells from cord blood	blood
16	chr11:74951600-74953200	Active TSS	Brain Substantia Nigra	brain
17	chr11:74951600-74953200	Bivalent/Poised TSS	HSMMtube	muscle
18	chr11:74951600-74953400	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr11:74951600-74953400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
20	chr11:74951600-74953400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
21	chr11:74951600-74953400	Flanking Active TSS	Primary hematopoietic stem cells	blood
22	chr11:74951600-74953400	Active TSS	Brain Cingulate Gyrus	brain
23	chr11:74951600-74953400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
24	chr11:74951600-74953400	Bivalent/Poised TSS	HepG2	liver
25	chr11:74951600-74953400	Bivalent/Poised TSS	Osteobl	bone
26	chr11:74951600-74953600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
27	chr11:74951800-74953200	Bivalent/Poised TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr11:74951800-74953200	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr11:74951800-74953400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr11:74951800-74953400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr11:74951800-74953400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr11:74951800-74953400	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr11:74951800-74953400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr11:74951800-74953600	Bivalent/Poised TSS	HSMM	muscle
35	chr11:74952000-74953200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
36	chr11:74952000-74953200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
37	chr11:74952000-74953200	Active TSS	Primary T helper naive cells fromperipheralblood	blood
38	chr11:74952000-74953200	Active TSS	Primary T helper cells PMA-I stimulated	--
39	chr11:74952000-74953200	Active TSS	Primary T helper cells fromperipheralblood	blood
40	chr11:74952000-74953200	Active TSS	Gastric	stomach
41	chr11:74952000-74953200	Flanking Active TSS	Pancreas	Pancrea
42	chr11:74952000-74953200	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
43	chr11:74952000-74953400	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
44	chr11:74952000-74953400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr11:74952000-74953400	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr11:74952000-74953400	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
47	chr11:74952000-74953400	Active TSS	Duodenum Mucosa	Duodenum
48	chr11:74952000-74953400	Active TSS	K562	blood
49	chr11:74952000-74953600	Bivalent/Poised TSS	Brain Germinal Matrix	brain
50	chr11:74952200-74953200	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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