Variant report

Variant	rs114080664
Chromosome Location	chr4:165899060-165899061
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	CTCF	chr4:165898794-165899061	IMR90	lung:	n/a	n/a
2	CTCF	chr4:165898920-165899070	GM12866	blood:	n/a	n/a
3	POLR2A	chr4:165898335-165899157	GM18951	blood:	n/a	n/a
4	POLR2A	chr4:165898426-165899126	GM12878	blood:	n/a	n/a
5	POLR2A	chr4:165897812-165899292	GM12878	blood:	n/a	n/a
6	ELF1	chr4:165898506-165899182	GM12878	blood:	n/a	chr4:165898822-165898831 chr4:165898819-165898832 chr4:165898821-165898832
7	NRF1	chr4:165898644-165899142	GM12878	blood:	n/a	chr4:165898846-165898857 chr4:165898846-165898860 chr4:165898843-165898857
8	POLR2A	chr4:165898458-165899157	GM19099	blood:	n/a	n/a
9	CTCF	chr4:165899020-165899170	HRE	kidney:	n/a	n/a
10	CHD2	chr4:165898446-165899204	GM12878	blood:	n/a	n/a
11	POLR2A	chr4:165898509-165899165	GM12878	blood:	n/a	n/a
12	POLR2A	chr4:165898450-165899122	GM12892	blood:	n/a	n/a
13	CTCF	chr4:165898920-165899070	AG10803	skin:	n/a	n/a
14	CTCF	chr4:165898920-165899070	BE2_C	brain:	n/a	n/a
15	ZNF143	chr4:165898585-165899097	GM12878	blood:	n/a	n/a
16	CTCF	chr4:165899017-165899070	GM19240	blood:	n/a	n/a
17	CTCF	chr4:165898980-165899130	HRPEpiC	eye:	n/a	n/a
18	POLR2A	chr4:165898235-165899320	GM15510	blood:	n/a	n/a
19	WRNIP1	chr4:165898234-165899396	GM12878	blood:	n/a	n/a
20	ELF1	chr4:165898354-165899166	GM12878	blood:	n/a	chr4:165898822-165898831 chr4:165898819-165898832 chr4:165898821-165898832
21	POLR2A	chr4:165898327-165899100	GM12878	blood:	n/a	n/a
22	POLR2A	chr4:165898050-165899262	GM18505	blood:	n/a	n/a
23	CTCF	chr4:165898634-165899119	GM12878	blood:	n/a	n/a
24	POLR2A	chr4:165898272-165899130	GM12892	blood:	n/a	n/a
25	MTA3	chr4:165898227-165899447	GM12878	blood:	n/a	n/a
26	POLR2A	chr4:165898212-165899081	Raji	blood:	n/a	n/a
27	E2F6	chr4:165898554-165899167	H1-hESC	embryonic stem cell:	n/a	chr4:165898896-165898910 chr4:165898830-165898842
28	MAZ	chr4:165898538-165899096	GM12878	blood:	n/a	n/a
29	CTCF	chr4:165898980-165899130	GM12869	blood:	n/a	n/a
30	POLR2A	chr4:165898495-165899074	GM12878	blood:	n/a	n/a
31	CTCF	chr4:165898769-165899212	GM19238	blood:	n/a	n/a
32	RUNX3	chr4:165898266-165899105	GM12878	blood:	n/a	n/a
33	STAT5A	chr4:165898368-165899225	GM12878	blood:	n/a	chr4:165898782-165898790
34	CTCF	chr4:165898960-165899110	NHLF	lung:	n/a	n/a
35	POLR2A	chr4:165898545-165899074	GM12878	blood:	n/a	n/a
36	NFIC	chr4:165898207-165899086	GM12878	blood:	n/a	n/a
37	BCLAF1	chr4:165898340-165899117	GM12878	blood:	n/a	chr4:165898823-165898832
38	FOXM1	chr4:165898444-165899213	GM12878	blood:	n/a	n/a
39	NFATC1	chr4:165898285-165899213	GM12878	blood:	n/a	n/a
40	MTA3	chr4:165898180-165899308	GM12878	blood:	n/a	n/a
41	RUNX3	chr4:165898505-165899090	GM12878	blood:	n/a	n/a
42	POLR2A	chr4:165897845-165899147	GM12878	blood:	n/a	n/a
43	CTCF	chr4:165898920-165899070	HCPEpiC	choroid plexus:	n/a	n/a
44	POLR2A	chr4:165898175-165899203	GM18526	blood:	n/a	n/a
45	CTCF	chr4:165898920-165899070	HPF	lung:	n/a	n/a
46	BHLHE40	chr4:165898610-165899070	GM12878	blood:	n/a	n/a
47	CTCF	chr4:165898737-165899203	GM19239	blood:	n/a	n/a
48	POLR2A	chr4:165898437-165899112	GM12892	blood:	n/a	n/a
49	SMC3	chr4:165898738-165899197	GM12878	blood:	n/a	chr4:165898894-165898904
50	PML	chr4:165898323-165899251	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:165896605..165899172-chr4:165907116..165908745,2	MCF-7	breast:

Variant related genes	Relation type
TRIM61	TF binding region
ENSG00000248229	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1019150	chr4:165505585-165907924	Active TSS Enhancers Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	nsv1026152	chr4:165622244-166027447	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv537336	chr4:165622244-166027447	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS 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	36 gene(s)	inside rSNPs	diseases
4	nsv1022210	chr4:165792630-166251612	Genic enhancers Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
5	nsv537337	chr4:165792630-166251612	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
6	nsv880382	chr4:165793001-165964290	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
7	esv2757965	chr4:165801816-165976350	Strong transcription Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
8	esv2759299	chr4:165801816-165976350	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
9	nsv528686	chr4:165814359-165930168	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
10	nsv1015970	chr4:165852926-165973078	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
11	nsv1021905	chr4:165852926-166212878	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
12	nsv830140	chr4:165855999-165956612	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
13	nsv533191	chr4:165879671-166171638	Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
14	nsv967698	chr4:165898469-165911460	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:165897600-165899400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr4:165897600-165899400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr4:165897800-165899200	Active TSS	H9 Cell Line	embryonic stem cell
4	chr4:165897800-165899200	Active TSS	HUES6 Cell Line	embryonic stem cell
5	chr4:165897800-165899200	Active TSS	Right Ventricle	heart
6	chr4:165897800-165899200	Active TSS	HSMM	muscle
7	chr4:165897800-165899400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr4:165897800-165899400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr4:165897800-165899400	Active TSS	HUES64 Cell Line	embryonic stem cell
10	chr4:165897800-165899400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr4:165897800-165899400	Active TSS	Primary hematopoietic stem cells short term culture	blood
12	chr4:165897800-165899400	Active TSS	Fetal Stomach	stomach
13	chr4:165897800-165899400	Active TSS	Right Atrium	heart
14	chr4:165897800-165899600	Active TSS	ES-I3 Cell Line	embryonic stem cell
15	chr4:165898000-165899200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr4:165898000-165899200	Active TSS	iPS-15b Cell Line	embryonic stem cell
17	chr4:165898000-165899200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
18	chr4:165898000-165899200	Active TSS	Primary T cells from cord blood	blood
19	chr4:165898000-165899200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr4:165898000-165899200	Active TSS	Brain Inferior Temporal Lobe	brain
21	chr4:165898000-165899200	Active TSS	Colon Smooth Muscle	Colon
22	chr4:165898000-165899200	Active TSS	Duodenum Mucosa	Duodenum
23	chr4:165898000-165899200	Active TSS	Fetal Brain Female	brain
24	chr4:165898000-165899200	Active TSS	Left Ventricle	heart
25	chr4:165898000-165899200	Active TSS	Psoas Muscle	Psoas
26	chr4:165898000-165899400	Active TSS	Primary B cells from cord blood	blood
27	chr4:165898000-165899400	Active TSS	Brain Anterior Caudate	brain
28	chr4:165898000-165899400	Active TSS	Brain Hippocampus Middle	brain
29	chr4:165898000-165899400	Active TSS	Pancreatic Islets	Pancreatic Islet
30	chr4:165898000-165899400	Active TSS	Rectal Mucosa Donor 29	rectum
31	chr4:165898000-165899400	Active TSS	Rectal Smooth Muscle	rectum
32	chr4:165898200-165899200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr4:165898200-165899200	Active TSS	HUES48 Cell Line	embryonic stem cell
34	chr4:165898200-165899200	Active TSS	iPS-18 Cell Line	embryonic stem cell
35	chr4:165898200-165899200	Flanking Active TSS	Primary B cells from peripheral blood	blood
36	chr4:165898200-165899200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
37	chr4:165898200-165899200	Active TSS	Muscle Satellite Cultured Cells	--
38	chr4:165898200-165899200	Active TSS	Cortex derived primary cultured neurospheres	brain
39	chr4:165898200-165899200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr4:165898200-165899200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr4:165898200-165899200	Active TSS	Brain Angular Gyrus	brain
42	chr4:165898200-165899200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
43	chr4:165898200-165899200	Active TSS	Brain Substantia Nigra	brain
44	chr4:165898200-165899200	Active TSS	Colonic Mucosa	Colon
45	chr4:165898200-165899200	Active TSS	Fetal Intestine Large	intestine
46	chr4:165898200-165899200	Active TSS	Gastric	stomach
47	chr4:165898200-165899200	Active TSS	Placenta Amnion	Placenta Amnion
48	chr4:165898200-165899200	Active TSS	Stomach Smooth Muscle	stomach
49	chr4:165898200-165899200	Active TSS	Thymus	Thymus
50	chr4:165898200-165899200	Active TSS	HSMMtube	muscle

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