Variant report

Variant	rs11946355
Chromosome Location	chr4:119199512-119199513
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	PML	chr4:119199445-119200406	K562	blood:	n/a	n/a
2	NR2F2	chr4:119199436-119200288	K562	blood:	n/a	n/a
3	POLR2A	chr4:119197988-119206014	GM12878	blood:	n/a	n/a
4	TAF1	chr4:119199465-119200328	Hela-S3	cervix:	n/a	n/a
5	MYBL2	chr4:119199192-119200727	HepG2	liver:	n/a	n/a
6	HEY1	chr4:119199447-119200795	K562	blood:	n/a	chr4:119199793-119199808
7	JUN	chr4:119199488-119200389	K562	blood:	n/a	chr4:119199812-119199821
8	MAX	chr4:119199465-119200504	ECC-1	luminal epithelium:	n/a	chr4:119199734-119199749 chr4:119199711-119199722
9	FOXM1	chr4:119199372-119200960	GM12878	blood:	n/a	n/a
10	E2F6	chr4:119199478-119200038	H1-hESC	embryonic stem cell:	n/a	chr4:119199691-119199700
11	MTA3	chr4:119199317-119200797	GM12878	blood:	n/a	n/a
12	EGR1	chr4:119199457-119200493	HCT-116	colon:	n/a	chr4:119199742-119199752 chr4:119199767-119199781 chr4:119199740-119199753 chr4:119199740-119199753 chr4:119199741-119199755 chr4:119199740-119199754 chr4:119199739-119199754 chr4:119199691-119199700
13	POLR2A	chr4:119198979-119204800	PBDE	blood:	n/a	n/a
14	CBX3	chr4:119199510-119200398	K562	blood:	n/a	n/a
15	YY1	chr4:119199237-119200425	GM12878	blood:	n/a	chr4:119199745-119199756 chr4:119200221-119200233
16	POLR2A	chr4:119199360-119200410	MCF-7	breast:	n/a	n/a
17	MYC	chr4:119199465-119200393	Hela-S3	cervix:	n/a	chr4:119199734-119199749 chr4:119199711-119199722
18	PML	chr4:119199506-119200473	GM12878	blood:	n/a	n/a
19	POLR2A	chr4:119199362-119200787	HepG2	liver:	n/a	n/a
20	MAX	chr4:119199497-119200553	HepG2	liver:	n/a	chr4:119199734-119199749 chr4:119199711-119199722
21	TAF1	chr4:119199239-119200450	K562	blood:	n/a	n/a
22	TBP	chr4:119199486-119200360	H1-hESC	embryonic stem cell:	n/a	n/a
23	TAF1	chr4:119199458-119200430	K562	blood:	n/a	n/a
24	NRF1	chr4:119199086-119200330	SK-N-SH	brain:	n/a	chr4:119199690-119199699 chr4:119199690-119199701 chr4:119199689-119199700 chr4:119199687-119199701
25	JUND	chr4:119199452-119203796	SK-N-SH	brain:	n/a	chr4:119199812-119199821 chr4:119203525-119203535
26	MAX	chr4:119199447-119200507	K562	blood:	n/a	chr4:119199734-119199749 chr4:119199711-119199722
27	USF1	chr4:119199443-119199898	A549	lung:	n/a	n/a
28	TCF12	chr4:119199484-119200059	GM12878	blood:	n/a	n/a
29	POLR2A	chr4:119199070-119205417	Hela-S3	cervix:	n/a	n/a
30	MAX	chr4:119199383-119200637	ECC-1	luminal epithelium:	n/a	chr4:119199734-119199749 chr4:119199711-119199722
31	MAX	chr4:119199457-119200509	GM12878	blood:	n/a	chr4:119199734-119199749 chr4:119199711-119199722
32	POLR2A	chr4:119199069-119202589	GM12878	blood:	n/a	n/a
33	CHD2	chr4:119199497-119200736	K562	blood:	n/a	chr4:119199814-119199824
34	EGR1	chr4:119199459-119200432	HCT-116	colon:	n/a	chr4:119199742-119199752 chr4:119199767-119199781 chr4:119199740-119199753 chr4:119199740-119199753 chr4:119199741-119199755 chr4:119199740-119199754 chr4:119199739-119199754 chr4:119199691-119199700
35	SIN3AK20	chr4:119199348-119200976	MCF-7	breast:	n/a	n/a
36	E2F6	chr4:119199373-119200166	H1-hESC	embryonic stem cell:	n/a	chr4:119199691-119199700
37	USF1	chr4:119199469-119200029	A549	lung:	n/a	n/a
38	MAX	chr4:119199464-119200445	SK-N-SH	brain:	n/a	chr4:119199734-119199749 chr4:119199711-119199722
39	RCOR1	chr4:119199075-119200229	GM12878	blood:	n/a	n/a
40	POLR2A	chr4:119199450-119204660	PFSK-1	brain:	n/a	n/a
41	POLR2A	chr4:119199252-119204845	SK-N-SH	brain:	n/a	n/a
42	EP300	chr4:119199465-119200447	SK-N-SH	brain:	n/a	chr4:119199594-119199603 chr4:119199817-119199830
43	MBD4	chr4:119199496-119203580	HepG2	liver:	n/a	n/a
44	MAX	chr4:119199502-119200665	NB4	blood:	n/a	chr4:119199734-119199749 chr4:119199711-119199722
45	CREB1	chr4:119199455-119200127	A549	lung:	n/a	n/a
46	POU2F2	chr4:119199444-119200350	GM12878	blood:	n/a	chr4:119199743-119199755
47	POLR2A	chr4:119199410-119205343	PFSK-1	brain:	n/a	n/a
48	POLR2A	chr4:119199459-119200467	A549	lung:	n/a	n/a
49	RUNX3	chr4:119199446-119200370	GM12878	blood:	n/a	n/a
50	POLR2A	chr4:119199241-119200546	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:119198265..119200504-chr4:119654029..119656125,2	K562	blood:
2	chr4:119198319..119200411-chr6:26198105..26199834,2	MCF-7	breast:
3	chr11:65195812..65196754-chr4:119199186..119199806,2	Hela-S3	cervix:
4	chr4:119198442..119201160-chr4:120987880..120989467,2	MCF-7	breast:
5	chr16:9185065..9185987-chr4:119199511..119200039,2	Hela-S3	cervix:
6	chr14:103986983..103987911-chr4:119199083..119199796,2	Hela-S3	cervix:
7	chr17:73775421..73776209-chr4:119199186..119199806,2	Hela-S3	cervix:
8	chr4:119199307..119202288-chr4:119603050..119607934,6	MCF-7	breast:
9	chr4:119198677..119205956-chr4:119272273..119279963,18	MCF-7	breast:
10	chr18:12991026..12991868-chr4:119199244..119200267,3	Hela-S3	cervix:

Variant related genes	Relation type
SNHG8	TF binding region
ENSG00000164109	Chromatin interaction
ENSG00000196866	Chromatin interaction
ENSG00000132475	Chromatin interaction
ENSG00000266969	Chromatin interaction
ENSG00000101639	Chromatin interaction
ENSG00000197409	Chromatin interaction
ENSG00000164099	Chromatin interaction
ENSG00000182831	Chromatin interaction
ENSG00000145388	Chromatin interaction
ENSG00000197846	Chromatin interaction
ENSG00000150961	Chromatin interaction
ENSG00000166165	Chromatin interaction
ENSG00000250938	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs58206331	0.88[AFR][1000 genomes]
rs72919215	0.80[AFR][1000 genomes]
rs72919291	0.88[AFR][1000 genomes]
rs72919299	1.00[AFR][1000 genomes]

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	nsv519017	chr4:118828807-119771481	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv1009076	chr4:118949490-119269424	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv1001236	chr4:118949490-119271243	Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	esv34038	chr4:119035124-119455391	Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
5	nsv1001138	chr4:119095147-119461837	Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
6	nsv537230	chr4:119095147-119461837	Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
7	nsv1002771	chr4:119125361-119571237	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
8	nsv1003731	chr4:119138262-119506032	Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
9	esv1794655	chr4:119170156-119212103	Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:119197800-119200800	Active TSS	Duodenum Mucosa	Duodenum
2	chr4:119198200-119200200	Active TSS	GM12878-XiMat	blood
3	chr4:119198600-119201000	Active TSS	Liver	Liver
4	chr4:119198800-119199600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr4:119198800-119200200	Active TSS	HUES6 Cell Line	embryonic stem cell
6	chr4:119198800-119200200	Active TSS	iPS-20b Cell Line	embryonic stem cell
7	chr4:119198800-119200400	Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr4:119198800-119200400	Active TSS	Primary T regulatory cells fromperipheralblood	blood
9	chr4:119198800-119200400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr4:119198800-119200400	Active TSS	K562	blood
11	chr4:119198800-119200600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr4:119198800-119200600	Active TSS	HUES48 Cell Line	embryonic stem cell
13	chr4:119198800-119200600	Active TSS	NH-A	brain
14	chr4:119199000-119199600	Flanking Active TSS	Primary B cells from peripheral blood	blood
15	chr4:119199000-119199600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
16	chr4:119199000-119199600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
17	chr4:119199000-119199600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
18	chr4:119199000-119199600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr4:119199000-119199800	Flanking Active TSS	Dnd41	blood
20	chr4:119199000-119200000	Active TSS	HepG2	liver
21	chr4:119199000-119200200	Active TSS	H9 Cell Line	embryonic stem cell
22	chr4:119199000-119200200	Active TSS	iPS-18 Cell Line	embryonic stem cell
23	chr4:119199000-119200200	Active TSS	Cortex derived primary cultured neurospheres	brain
24	chr4:119199000-119200200	Bivalent/Poised TSS	Brain Germinal Matrix	brain
25	chr4:119199000-119200400	Active TSS	HUES64 Cell Line	embryonic stem cell
26	chr4:119199000-119200400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr4:119199000-119200400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr4:119199000-119200400	Active TSS	Fetal Brain Male	brain
29	chr4:119199000-119200400	Active TSS	HMEC	breast
30	chr4:119199000-119200400	Active TSS	Osteobl	bone
31	chr4:119199000-119200600	Active TSS	H1 Cell Line	embryonic stem cell
32	chr4:119199000-119200600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr4:119199000-119200600	Active TSS	Breast Myoepithelial Primary Cells	Breast
34	chr4:119199000-119200600	Active TSS	Brain Anterior Caudate	brain
35	chr4:119199000-119200600	Active TSS	Brain Hippocampus Middle	brain
36	chr4:119199000-119200600	Active TSS	Fetal Brain Female	brain
37	chr4:119199000-119200600	Active TSS	Pancreatic Islets	Pancreatic Islet
38	chr4:119199000-119200600	Active TSS	Hela-S3	cervix
39	chr4:119199000-119200800	Active TSS	Primary T killer memory cells from peripheral blood	blood
40	chr4:119199000-119200800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
41	chr4:119199000-119200800	Active TSS	Colon Smooth Muscle	Colon
42	chr4:119199000-119200800	Active TSS	NHLF	lung
43	chr4:119199000-119201000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr4:119199000-119201000	Active TSS	Aorta	Aorta
45	chr4:119199000-119201000	Active TSS	Placenta	Placenta
46	chr4:119199000-119201000	Active TSS	Skeletal Muscle Female	skeletal muscle
47	chr4:119199000-119201000	Active TSS	Stomach Mucosa	stomach
48	chr4:119199000-119201200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
49	chr4:119199000-119201200	Active TSS	Brain Angular Gyrus	brain
50	chr4:119199000-119201200	Active TSS	Brain Inferior Temporal Lobe	brain

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