Variant report

Variant	rs185091625
Chromosome Location	chr4:3294454-3294455
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	CTCF	chr4:3294424-3294545	GM19239	blood:	n/a	n/a
2	IRF1	chr4:3294149-3295422	K562	blood:	n/a	chr4:3294505-3294519
3	MYC	chr4:3294444-3294611	K562	blood:	n/a	n/a
4	MAX	chr4:3293600-3294800	SK-N-SH	brain:	n/a	n/a
5	POLR2A	chr4:3294258-3294619	PANC-1	pancreas:	n/a	n/a
6	BACH1	chr4:3293851-3294599	H1-hESC	embryonic stem cell:	n/a	n/a
7	BHLHE40	chr4:3293893-3294609	K562	blood:	n/a	chr4:3294055-3294071 chr4:3293992-3294008
8	POLR2A	chr4:3293851-3294598	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr4:3293848-3294598	A549	lung:	n/a	n/a
10	POLR2A	chr4:3294255-3295596	H1-hESC	embryonic stem cell:	n/a	n/a
11	SIN3AK20	chr4:3293160-3294773	MCF-7	breast:	n/a	n/a
12	GABPA	chr4:3294011-3294616	K562	blood:	n/a	chr4:3294491-3294500
13	MAX	chr4:3293516-3294722	Hela-S3	cervix:	n/a	n/a
14	POLR2A	chr4:3294051-3294608	HepG2	liver:	n/a	n/a
15	HDAC2	chr4:3294009-3294752	MCF-7	breast:	n/a	n/a
16	MYC	chr4:3294324-3294816	K562	blood:	n/a	n/a
17	SIN3AK20	chr4:3294180-3294769	MCF-7	breast:	n/a	n/a
18	HEY1	chr4:3293751-3294580	HepG2	liver:	n/a	chr4:3293803-3293818 chr4:3293996-3294011 chr4:3294482-3294497 chr4:3294485-3294500
19	POLR2A	chr4:3293337-3297140	HepG2	liver:	n/a	n/a
20	POLR2A	chr4:3293949-3294593	A549	lung:	n/a	n/a
21	STAT3	chr4:3294213-3294517	MCF10A-Er-Src	breast:	n/a	chr4:3294300-3294307
22	EP300	chr4:3294402-3294861	K562	blood:	n/a	n/a
23	CHD2	chr4:3294284-3294796	Hela-S3	cervix:	n/a	n/a
24	ZNF143	chr4:3294360-3294998	GM12878	blood:	n/a	chr4:3294739-3294749 chr4:3294482-3294492
25	HA-E2F1	chr4:3293257-3294560	MCF-7	breast:	n/a	chr4:3294103-3294112 chr4:3293858-3293870 chr4:3293969-3293979 chr4:3294491-3294500
26	CTCF	chr4:3294450-3294539	GM19240	blood:	n/a	n/a
27	TAF1	chr4:3294248-3294614	H1-hESC	embryonic stem cell:	n/a	n/a
28	POLR2A	chr4:3294312-3294522	GM12878	blood:	n/a	n/a
29	JUND	chr4:3294345-3294639	A549	lung:	n/a	n/a
30	POLR2A	chr4:3293900-3294622	Hela-S3	cervix:	n/a	n/a
31	CHD2	chr4:3294339-3294459	K562	blood:	n/a	n/a
32	NRF1	chr4:3294326-3294541	GM12878	blood:	n/a	chr4:3294491-3294500
33	POLR2A	chr4:3293688-3294593	HUVEC	blood vessel:	n/a	n/a
34	MAX	chr4:3294327-3294616	GM12878	blood:	n/a	n/a
35	CHD2	chr4:3294235-3294626	H1-hESC	embryonic stem cell:	n/a	n/a
36	UBTF	chr4:3293945-3294569	K562	blood:	n/a	n/a
37	POLR2A	chr4:3293589-3295658	IMR90	lung:	n/a	n/a
38	POLR2A	chr4:3294242-3294886	GM15510	blood:	n/a	n/a
39	CTCF	chr4:3294400-3294547	GM12878	blood:	n/a	n/a
40	REST	chr4:3293209-3295708	H1-neurons	neurons:	n/a	chr4:3293975-3293988 chr4:3294439-3294453 chr4:3294441-3294451 chr4:3293979-3293988 chr4:3294057-3294070 chr4:3293992-3294005 chr4:3293972-3293985 chr4:3294443-3294456 chr4:3295683-3295701
41	MAZ	chr4:3293944-3294962	HepG2	liver:	n/a	n/a
42	CTCF	chr4:3294360-3294510	HMEC	breast:	n/a	n/a
43	MAZ	chr4:3294300-3295546	K562	blood:	n/a	n/a
44	CREB1	chr4:3293236-3294971	HepG2	liver:	n/a	n/a
45	POLR2A	chr4:3294203-3294578	HepG2	liver:	n/a	n/a
46	POLR2A	chr4:3293888-3295269	NB4	blood:	n/a	n/a
47	CTCF	chr4:3294340-3294490	GM12875	blood:	n/a	chr4:3294348-3294361
48	MXI1	chr4:3293305-3295574	IMR90	lung:	n/a	n/a
49	POLR2A	chr4:3293686-3294571	U87	brain:	n/a	n/a
50	SIN3A	chr4:3293331-3294968	H1-hESC	embryonic stem cell:	n/a	chr4:3294441-3294450 chr4:3294054-3294067

No.	Distal block	Cell Line	Cell type
1	chr4:2798786..2800390-chr4:3294087..3295620,2	MCF-7	breast:
2	chr4:3292471..3295854-chr4:3462941..3467927,8	MCF-7	breast:
3	chr4:3292102..3294475-chr4:3451973..3453863,2	MCF-7	breast:
4	chr4:3293993..3296488-chr4:3491954..3495229,3	MCF-7	breast:
5	chr4:3294234..3297919-chr4:3387466..3390148,3	MCF-7	breast:
6	chr4:3249484..3252398-chr4:3294414..3296079,2	K562	blood:
7	chr4:3292637..3295776-chr4:3483843..3488274,4	MCF-7	breast:
8	chr4:3074885..3077461-chr4:3292207..3294882,2	MCF-7	breast:
9	chr4:3292758..3295748-chr4:3341243..3344299,3	MCF-7	breast:
10	chr4:3293485..3295010-chr4:3317459..3319780,2	K562	blood:

Variant related genes	Relation type
RGS12	TF binding region
ENSG00000159788	Chromatin interaction
ENSG00000188981	Chromatin interaction
ENSG00000197386	Chromatin interaction
ENSG00000175920	Chromatin interaction
ENSG00000251075	Chromatin interaction
ENSG00000087266	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3418626	chr4:2741174-3461492	Genic enhancers Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	esv3397632	chr4:2741239-3460583	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
3	nsv998290	chr4:3176454-3355758	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv878454	chr4:3215835-3305739	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv878455	chr4:3215835-3344891	Strong transcription Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
6	nsv878456	chr4:3215835-3467519	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
7	nsv428106	chr4:3226182-3752322	Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
8	nsv878458	chr4:3235518-3303976	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
9	nsv878459	chr4:3235518-3310831	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	7 gene(s)	inside rSNPs	diseases
10	nsv878460	chr4:3260154-3303976	Strong transcription Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
11	nsv878461	chr4:3270488-3339038	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
12	nsv593440	chr4:3283422-3339038	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
13	nsv461165	chr4:3283422-3342137	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
14	nsv593441	chr4:3283422-3342137	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
15	esv3400837	chr4:3293379-3295927	Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
16	esv3381315	chr4:3293754-3296077	Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
17	esv3437726	chr4:3294304-3295652	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	6 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	chr4:3292600-3295600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr4:3293000-3295600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr4:3293200-3295400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr4:3293200-3295600	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr4:3293200-3295600	Active TSS	Hela-S3	cervix
6	chr4:3293200-3295600	Active TSS	NHDF-Ad	bronchial
7	chr4:3293200-3295600	Active TSS	NHLF	lung
8	chr4:3293200-3295800	Active TSS	H9 Cell Line	embryonic stem cell
9	chr4:3293200-3295800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr4:3293400-3294600	Flanking Active TSS	Primary hematopoietic stem cells	blood
11	chr4:3293400-3294600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr4:3293400-3294600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr4:3293400-3294600	Flanking Bivalent TSS/Enh	Dnd41	blood
14	chr4:3293400-3295400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr4:3293400-3295400	Active TSS	Breast Myoepithelial Primary Cells	Breast
16	chr4:3293400-3295400	Active TSS	Psoas Muscle	Psoas
17	chr4:3293400-3295600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr4:3293400-3295600	Active TSS	Placenta Amnion	Placenta Amnion
19	chr4:3293600-3294600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
20	chr4:3293600-3294600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
21	chr4:3293600-3294600	Active TSS	Brain Cingulate Gyrus	brain
22	chr4:3293600-3295200	Active TSS	Pancreas	Pancrea
23	chr4:3293600-3295200	Active TSS	HepG2	liver
24	chr4:3293600-3295400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr4:3293600-3295400	Active TSS	Aorta	Aorta
26	chr4:3293600-3295400	Active TSS	Esophagus	oesophagus
27	chr4:3293600-3295400	Active TSS	Fetal Brain Female	brain
28	chr4:3293600-3295400	Active TSS	Left Ventricle	heart
29	chr4:3293600-3295400	Active TSS	Right Atrium	heart
30	chr4:3293600-3295600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
31	chr4:3293600-3295600	Active TSS	Duodenum Smooth Muscle	Duodenum
32	chr4:3293600-3295600	Active TSS	Ovary	ovary
33	chr4:3293600-3296000	Active TSS	HSMMtube	muscle
34	chr4:3293600-3297000	Active TSS	Fetal Kidney	kidney
35	chr4:3293800-3294600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
36	chr4:3293800-3294600	Active TSS	Primary T regulatory cells fromperipheralblood	blood
37	chr4:3293800-3294600	Active TSS	Brain Angular Gyrus	brain
38	chr4:3293800-3294600	Active TSS	Brain Substantia Nigra	brain
39	chr4:3293800-3295200	Active TSS	H1 Cell Line	embryonic stem cell
40	chr4:3293800-3295200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr4:3293800-3295200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr4:3293800-3295200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr4:3293800-3295200	Active TSS	Rectal Mucosa Donor 29	rectum
44	chr4:3293800-3295400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr4:3293800-3295400	Active TSS	iPS-20b Cell Line	embryonic stem cell
46	chr4:3293800-3295400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr4:3293800-3295400	Active TSS	Muscle Satellite Cultured Cells	--
48	chr4:3293800-3295400	Active TSS	Brain Anterior Caudate	brain
49	chr4:3293800-3295400	Active TSS	Colon Smooth Muscle	Colon
50	chr4:3293800-3295400	Active TSS	Fetal Intestine Large	intestine

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