Variant report

Variant	rs60551364
Chromosome Location	chr4:3293952-3293953
allele	C/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	MAX	chr4:3293600-3294800	SK-N-SH	brain:	n/a	n/a
2	BACH1	chr4:3293851-3294599	H1-hESC	embryonic stem cell:	n/a	n/a
3	BHLHE40	chr4:3293893-3294609	K562	blood:	n/a	chr4:3294055-3294071 chr4:3293992-3294008
4	POLR2A	chr4:3293851-3294598	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr4:3293848-3294598	A549	lung:	n/a	n/a
6	SIN3AK20	chr4:3293160-3294773	MCF-7	breast:	n/a	n/a
7	MAX	chr4:3293516-3294722	Hela-S3	cervix:	n/a	n/a
8	HEY1	chr4:3293751-3294580	HepG2	liver:	n/a	chr4:3293803-3293818 chr4:3293996-3294011 chr4:3294482-3294497 chr4:3294485-3294500
9	POLR2A	chr4:3293337-3297140	HepG2	liver:	n/a	n/a
10	POLR2A	chr4:3293764-3294154	HepG2	liver:	n/a	n/a
11	POLR2A	chr4:3293949-3294593	A549	lung:	n/a	n/a
12	POLR2A	chr4:3293952-3293967	A549	lung:	n/a	n/a
13	HA-E2F1	chr4:3293257-3294560	MCF-7	breast:	n/a	chr4:3294103-3294112 chr4:3293858-3293870 chr4:3293969-3293979 chr4:3294491-3294500
14	POLR2A	chr4:3293738-3294106	HCT-116	colon:	n/a	n/a
15	ZNF263	chr4:3293581-3294098	HEK293-T-REx	kidney:	n/a	chr4:3293715-3293736
16	POLR2A	chr4:3293900-3294622	Hela-S3	cervix:	n/a	n/a
17	POLR2A	chr4:3293688-3294593	HUVEC	blood vessel:	n/a	n/a
18	RFX5	chr4:3293603-3294080	Hela-S3	cervix:	n/a	chr4:3293694-3293708
19	UBTF	chr4:3293945-3294569	K562	blood:	n/a	n/a
20	POLR2A	chr4:3293589-3295658	IMR90	lung:	n/a	n/a
21	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
22	MAZ	chr4:3293944-3294962	HepG2	liver:	n/a	n/a
23	CREB1	chr4:3293236-3294971	HepG2	liver:	n/a	n/a
24	POLR2A	chr4:3293888-3295269	NB4	blood:	n/a	n/a
25	MXI1	chr4:3293305-3295574	IMR90	lung:	n/a	n/a
26	POLR2A	chr4:3293686-3294571	U87	brain:	n/a	n/a
27	SIN3A	chr4:3293331-3294968	H1-hESC	embryonic stem cell:	n/a	chr4:3294441-3294450 chr4:3294054-3294067
28	POLR2A	chr4:3293512-3295341	HepG2	liver:	n/a	n/a
29	MAX	chr4:3293677-3294903	K562	blood:	n/a	n/a
30	POLR2A	chr4:3293603-3295782	H1-neurons	neurons:	n/a	n/a
31	POLR2A	chr4:3293917-3294597	HepG2	liver:	n/a	n/a
32	TCF12	chr4:3293245-3294631	ECC-1	luminal epithelium:	n/a	chr4:3294554-3294564
33	MAX	chr4:3293646-3294732	NB4	blood:	n/a	n/a
34	MXI1	chr4:3293842-3294582	Hela-S3	cervix:	n/a	n/a
35	TCF12	chr4:3293228-3294621	ECC-1	luminal epithelium:	n/a	chr4:3294554-3294564
36	TAF1	chr4:3293852-3294931	HepG2	liver:	n/a	n/a
37	MYC	chr4:3293741-3294131	HUVEC	blood vessel:	n/a	n/a
38	POLR2A	chr4:3293927-3294149	A549	lung:	n/a	n/a
39	POLR2A	chr4:3293394-3295339	Hela-S3	cervix:	n/a	n/a
40	POLR2A	chr4:3293674-3295027	HUVEC	blood vessel:	n/a	n/a
41	GABPA	chr4:3293819-3294527	H1-hESC	embryonic stem cell:	n/a	chr4:3294491-3294500
42	POLR2A	chr4:3293671-3294598	ECC-1	luminal epithelium:	n/a	n/a
43	POLR2A	chr4:3293854-3294979	Hela-S3	cervix:	n/a	n/a
44	SMC3	chr4:3293790-3294050	Hela-S3	cervix:	n/a	n/a
45	POLR2A	chr4:3293423-3295472	MCF10A-Er-Src	breast:	n/a	n/a
46	MYC	chr4:3293819-3294891	NB4	blood:	n/a	n/a
47	RAD21	chr4:3293652-3294598	IMR90	lung:	n/a	chr4:3294202-3294216 chr4:3293675-3293687
48	MAX	chr4:3293168-3294827	HepG2	liver:	n/a	n/a
49	MAX	chr4:3293327-3294771	MCF-7	breast:	n/a	n/a
50	POLR2A	chr4:3293658-3294571	U87	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:3292471..3295854-chr4:3462941..3467927,8	MCF-7	breast:
2	chr4:3292102..3294475-chr4:3451973..3453863,2	MCF-7	breast:
3	chr4:3284056..3285844-chr4:3292232..3294141,2	MCF-7	breast:
4	chr4:3292635..3294292-chr4:3500969..3502505,2	MCF-7	breast:
5	chr4:3283519..3286259-chr4:3292639..3294370,2	K562	blood:
6	chr4:3292637..3295776-chr4:3483843..3488274,4	MCF-7	breast:
7	chr4:3074885..3077461-chr4:3292207..3294882,2	MCF-7	breast:
8	chr4:3269278..3270856-chr4:3292386..3294072,2	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
ENSG00000251075	Chromatin interaction
ENSG00000197386	Chromatin interaction
ENSG00000175920	Chromatin interaction
ENSG00000159788	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10019606	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs10022193	0.86[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs10024540	0.84[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs13118873	0.85[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs13147370	0.84[ASN][1000 genomes]
rs13152190	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs1609813	0.98[ASN][1000 genomes]
rs28652612	0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4488885	0.86[ASN][1000 genomes]
rs59898919	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs732869	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 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

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:3292600-3294000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
2	chr4:3292600-3294400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
3	chr4:3292600-3295600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr4:3292800-3294000	Enhancers	Fetal Brain Male	brain
5	chr4:3293000-3294000	Flanking Active TSS	Right Ventricle	heart
6	chr4:3293000-3294200	Flanking Active TSS	Stomach Smooth Muscle	stomach
7	chr4:3293000-3295600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr4:3293200-3294000	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr4:3293200-3294000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
10	chr4:3293200-3294000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
11	chr4:3293200-3294000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr4:3293200-3294000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr4:3293200-3294000	Flanking Active TSS	Adipose Nuclei	Adipose
14	chr4:3293200-3294000	Flanking Active TSS	Liver	Liver
15	chr4:3293200-3294000	Flanking Active TSS	Brain Germinal Matrix	brain
16	chr4:3293200-3294000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
17	chr4:3293200-3294000	Flanking Active TSS	Duodenum Mucosa	Duodenum
18	chr4:3293200-3294000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
19	chr4:3293200-3294000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
20	chr4:3293200-3294000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
21	chr4:3293200-3294000	Flanking Active TSS	NHEK	skin
22	chr4:3293200-3294400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr4:3293200-3294400	Flanking Active TSS	Colonic Mucosa	Colon
24	chr4:3293200-3294400	Flanking Active TSS	HMEC	breast
25	chr4:3293200-3295400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr4:3293200-3295600	Active TSS	Pancreatic Islets	Pancreatic Islet
27	chr4:3293200-3295600	Active TSS	Hela-S3	cervix
28	chr4:3293200-3295600	Active TSS	NHDF-Ad	bronchial
29	chr4:3293200-3295600	Active TSS	NHLF	lung
30	chr4:3293200-3295800	Active TSS	H9 Cell Line	embryonic stem cell
31	chr4:3293200-3295800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr4:3293400-3294000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr4:3293400-3294000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
34	chr4:3293400-3294000	Flanking Active TSS	Primary T cells from cord blood	blood
35	chr4:3293400-3294000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
36	chr4:3293400-3294000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
37	chr4:3293400-3294000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr4:3293400-3294000	Flanking Active TSS	Placenta	Placenta
39	chr4:3293400-3294000	Flanking Active TSS	HUVEC	blood vessel
40	chr4:3293400-3294000	Flanking Bivalent TSS/Enh	K562	blood
41	chr4:3293400-3294000	Flanking Active TSS	NH-A	brain
42	chr4:3293400-3294200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
43	chr4:3293400-3294200	Flanking Bivalent TSS/Enh	Primary mononuclear cells fromperipheralblood	Blood
44	chr4:3293400-3294400	Active TSS	ES-I3 Cell Line	embryonic stem cell
45	chr4:3293400-3294400	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr4:3293400-3294400	Flanking Active TSS	Spleen	Spleen
47	chr4:3293400-3294600	Flanking Active TSS	Primary hematopoietic stem cells	blood
48	chr4:3293400-3294600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr4:3293400-3294600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr4:3293400-3294600	Flanking Bivalent TSS/Enh	Dnd41	blood

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