Variant report

Variant	rs74061948
Chromosome Location	chr12:4648091-4648092
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:369)
CpG islands
(count:61)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:369 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CCNT2	chr12:4647801-4648173	K562	blood:	n/a	n/a
2	EP300	chr12:4647485-4648105	H1-hESC	embryonic stem cell:	n/a	n/a
3	GABPA	chr12:4647267-4648391	MCF-7	breast:	n/a	chr12:4647949-4647963
4	FOXM1	chr12:4647403-4648304	GM12878	blood:	n/a	n/a
5	JUND	chr12:4647483-4648918	K562	blood:	n/a	chr12:4648833-4648841 chr12:4648832-4648842 chr12:4648834-4648841 chr12:4648831-4648842 chr12:4648833-4648841
6	POLR2A	chr12:4647892-4648332	H1-hESC	embryonic stem cell:	n/a	n/a
7	EP300	chr12:4647475-4648233	GM12878	blood:	n/a	n/a
8	MAX	chr12:4647484-4648187	K562	blood:	n/a	n/a
9	E2F6	chr12:4647742-4648344	H1-hESC	embryonic stem cell:	n/a	chr12:4647923-4647935 chr12:4647953-4647962 chr12:4648032-4648043
10	ELK1	chr12:4647495-4648351	Hela-S3	cervix:	n/a	n/a
11	TBL1XR1	chr12:4647493-4648227	K562	blood:	n/a	n/a
12	POLR2A	chr12:4647244-4648467	PFSK-1	brain:	n/a	n/a
13	SIN3AK20	chr12:4647269-4648371	H1-hESC	embryonic stem cell:	n/a	n/a
14	E2F6	chr12:4647717-4648311	A549	lung:	n/a	chr12:4647923-4647935 chr12:4647953-4647962 chr12:4648032-4648043
15	ELF1	chr12:4647486-4648218	SK-N-SH	brain:	n/a	n/a
16	POLR2A	chr12:4647361-4648298	GM18951	blood:	n/a	n/a
17	SIN3A	chr12:4647193-4648518	H1-hESC	embryonic stem cell:	n/a	n/a
18	POLR2A	chr12:4647311-4648228	MCF-7	breast:	n/a	n/a
19	MAX	chr12:4647408-4648355	NB4	blood:	n/a	n/a
20	MAZ	chr12:4647391-4648176	GM12878	blood:	n/a	n/a
21	STAT5A	chr12:4647253-4648288	GM12878	blood:	n/a	chr12:4647381-4647389 chr12:4648038-4648049
22	MAX	chr12:4647407-4648357	SK-N-SH	brain:	n/a	n/a
23	YY1	chr12:4647144-4648326	SK-N-SH	brain:	n/a	n/a
24	SIN3AK20	chr12:4647240-4648300	A549	lung:	n/a	n/a
25	GABPA	chr12:4647413-4648091	K562	blood:	n/a	chr12:4647949-4647963
26	ETS1	chr12:4647411-4648220	GM12878	blood:	n/a	chr12:4648002-4648013
27	MAFK	chr12:4647385-4648441	K562	blood:	n/a	n/a
28	GABPA	chr12:4647405-4648152	Hela-S3	cervix:	n/a	chr12:4647949-4647963
29	MYBL2	chr12:4647349-4648330	HepG2	liver:	n/a	chr12:4647526-4647536
30	EP300	chr12:4647606-4648218	HepG2	liver:	n/a	n/a
31	NFYB	chr12:4647722-4648316	Hela-S3	cervix:	n/a	chr12:4647982-4647997
32	ETS1	chr12:4647311-4648225	A549	lung:	n/a	chr12:4648002-4648013
33	RFX5	chr12:4647572-4648205	GM12878	blood:	n/a	n/a
34	STAT1	chr12:4647339-4648250	Hela-S3	cervix:	n/a	chr12:4647381-4647389 chr12:4648038-4648049
35	HDAC2	chr12:4647405-4648333	MCF-7	breast:	n/a	chr12:4647463-4647477
36	SIN3AK20	chr12:4647434-4648205	PFSK-1	brain:	n/a	n/a
37	EP300	chr12:4647464-4648142	GM12878	blood:	n/a	n/a
38	POLR2A	chr12:4647365-4648273	HUVEC	blood vessel:	n/a	n/a
39	GABPA	chr12:4647232-4648354	A549	lung:	n/a	chr12:4647949-4647963
40	MAX	chr12:4647375-4648248	Hela-S3	cervix:	n/a	n/a
41	NFYB	chr12:4647821-4648173	K562	blood:	n/a	chr12:4647982-4647997
42	ATF3	chr12:4647400-4648225	A549	lung:	n/a	n/a
43	MAX	chr12:4647367-4648292	H1-hESC	embryonic stem cell:	n/a	n/a
44	RELA	chr12:4647368-4648363	GM15510	blood:	n/a	n/a
45	POLR2A	chr12:4647943-4648366	HUVEC	blood vessel:	n/a	n/a
46	POLR2A	chr12:4647386-4648358	ECC-1	luminal epithelium:	n/a	n/a
47	EP300	chr12:4647353-4648257	SK-N-SH	brain:	n/a	n/a
48	RFX5	chr12:4647561-4648147	HepG2	liver:	n/a	n/a
49	TAF1	chr12:4647802-4648288	K562	blood:	n/a	n/a
50	TEAD4	chr12:4647850-4648298	H1-hESC	embryonic stem cell:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:4648052-4648102	A549	lung:	n/a
2	chr12:4648052-4648102	HCT-116	colon:	n/a
3	chr12:4648052-4648102	SK-N-SH	brain:	n/a
4	chr12:4648052-4648102	ProgFib	skin:	n/a
5	chr12:4648052-4648102	RPTEC	kidney:	n/a
6	chr12:4648052-4648102	BE2_C	brain:	n/a
7	chr12:4648052-4648102	HepG2	liver:	n/a
8	chr12:4648052-4648102	ECC-1	luminal epithelium:	n/a
9	chr12:4648052-4648102	NHBE	bronchial:	n/a
10	chr12:4648052-4648102	ovcar-3	ovarian:	n/a
11	chr12:4648052-4648102	GM06990	blood:	n/a
12	chr12:4648052-4648102	Caco-2	colon:	n/a
13	chr12:4648052-4648102	IMR90	lung:	fetal
14	chr12:4648052-4648102	HAEpiC	amniotic membrane:	n/a
15	chr12:4648052-4648102	HCM	heart:	n/a
16	chr12:4648052-4648102	HL-60	blood:	n/a
17	chr12:4648052-4648102	GM19239	blood:	n/a
18	chr12:4648052-4648102	AG04449	skin:	fetal
19	chr12:4648052-4648102	HPAEpiC	pulmonary alveolar:	n/a
20	chr12:4648052-4648102	SK-N-MC	brain:	n/a
21	chr12:4648052-4648102	T-47D	breast:	n/a
22	chr12:4648052-4648102	SKMC	muscle:	n/a
23	chr12:4648052-4648102	NHDF-neo	bronchial:	n/a
24	chr12:4648052-4648102	CMK	blood:	n/a
25	chr12:4648052-4648102	SAEC	small airway:	n/a
26	chr12:4648052-4648102	NH-A	brain:	n/a
27	chr12:4648052-4648102	HNPCEpiC	eye:	n/a
28	chr12:4648052-4648102	PrEC	prostate:	n/a
29	chr12:4648052-4648102	AG04450	lung:	fetal
30	chr12:4648052-4648102	PFSK-1	brain:	n/a
31	chr12:4648052-4648102	HCF	heart:	n/a
32	chr12:4648052-4648102	HRE	kidney:	n/a
33	chr12:4648052-4648102	BJ	skin:	n/a
34	chr12:4648052-4648102	Jurkat	blood:	n/a
35	chr12:4648052-4648102	K562	blood:	n/a
36	chr12:4648052-4648102	HCPEpiC	choroid plexus:	n/a
37	chr12:4648052-4648102	HEK293	kidney:	embryo
38	chr12:4648052-4648102	AG09319	gingival:	n/a
39	chr12:4648052-4648102	GM12878	blood:	n/a
40	chr12:4648052-4648102	HIPEpiC	eye:	n/a
41	chr12:4648052-4648102	PANC-1	pancreas:	n/a
42	chr12:4648052-4648102	AoSMC	blood vessel:	n/a
43	chr12:4648052-4648102	NB4	blood:	n/a
44	chr12:4648052-4648102	LNCaP	prostate:	n/a
45	chr12:4648052-4648102	H1-hESC	embryonic stem cell:	embryo
46	chr12:4648052-4648102	GM12892	blood:	n/a
47	chr12:4648052-4648102	GM12891	blood:	n/a
48	chr12:4648052-4648102	HEEpiC	esophagus:	n/a
49	chr12:4648052-4648102	U87	brain:	n/a
50	chr12:4648052-4648102	HUVEC	blood vessel:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:4647147..4649763-chr12:4649895..4651987,2	MCF-7	breast:
2	chr12:4638037..4640518-chr12:4647266..4649269,3	K562	blood:

No data

Variant related genes	Relation type
RAD51AP1	TF binding region
C12orf4	TF binding region
RAD51AP1	CpG island
C12orf4	CpG island
ENSG00000047621	Chromatin interaction
ENSG00000111247	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs34810644	0.83[AMR][1000 genomes]
rs59185867	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs61064582	0.83[AMR][1000 genomes]
rs7307556	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs7315154	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs74059626	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs74061920	0.95[AFR][1000 genomes]
rs74061922	0.83[AFR][1000 genomes]
rs74061951	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74061956	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs7955496	0.83[AMR][1000 genomes]
rs7958840	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs7968517	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv557123	chr12:4436632-4736569	Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv1038332	chr12:4627992-4689300	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv541362	chr12:4627992-4689300	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 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	chr12:4646200-4648600	Active TSS	Muscle Satellite Cultured Cells	--
2	chr12:4646400-4648600	Active TSS	Right Atrium	heart
3	chr12:4646400-4648800	Active TSS	HUES48 Cell Line	embryonic stem cell
4	chr12:4646400-4648800	Active TSS	iPS-20b Cell Line	embryonic stem cell
5	chr12:4646600-4648400	Active TSS	Cortex derived primary cultured neurospheres	brain
6	chr12:4646600-4648400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr12:4646600-4648600	Active TSS	Thymus	Thymus
8	chr12:4646600-4648800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr12:4646600-4648800	Active TSS	Brain Angular Gyrus	brain
10	chr12:4646600-4648800	Active TSS	Hela-S3	cervix
11	chr12:4646600-4648800	Active TSS	NHDF-Ad	bronchial
12	chr12:4646600-4650000	Active TSS	K562	blood
13	chr12:4646800-4648200	Active TSS	Colon Smooth Muscle	Colon
14	chr12:4646800-4648200	Active TSS	HSMMtube	muscle
15	chr12:4646800-4648400	Active TSS	Primary hematopoietic stem cells short term culture	blood
16	chr12:4646800-4648400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr12:4646800-4648400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
18	chr12:4646800-4648400	Active TSS	HMEC	breast
19	chr12:4646800-4648400	Active TSS	Osteobl	bone
20	chr12:4646800-4648600	Active TSS	Brain Substantia Nigra	brain
21	chr12:4646800-4648600	Active TSS	Fetal Brain Male	brain
22	chr12:4646800-4648600	Active TSS	Skeletal Muscle Male	skeletal muscle
23	chr12:4646800-4648800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr12:4646800-4648800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr12:4646800-4648800	Active TSS	GM12878-XiMat	blood
26	chr12:4646800-4648800	Active TSS	NHEK	skin
27	chr12:4646800-4649000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr12:4646800-4649000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr12:4646800-4649000	Active TSS	Rectal Mucosa Donor 29	rectum
30	chr12:4646800-4649000	Active TSS	A549	lung
31	chr12:4646800-4649400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr12:4646800-4649400	Active TSS	HSMM	muscle
33	chr12:4646800-4649600	Active TSS	HUES6 Cell Line	embryonic stem cell
34	chr12:4646800-4649600	Active TSS	NHLF	lung
35	chr12:4647000-4648200	Active TSS	Primary monocytes fromperipheralblood	blood
36	chr12:4647000-4648200	Active TSS	Primary B cells from peripheral blood	blood
37	chr12:4647000-4648200	Active TSS	Primary T cells fromperipheralblood	blood
38	chr12:4647000-4648200	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
39	chr12:4647000-4648200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr12:4647000-4648200	Active TSS	Duodenum Smooth Muscle	Duodenum
41	chr12:4647000-4648200	Active TSS	Fetal Thymus	thymus
42	chr12:4647000-4648200	Active TSS	Rectal Mucosa Donor 31	rectum
43	chr12:4647000-4648200	Active TSS	Skeletal Muscle Female	skeletal muscle
44	chr12:4647000-4648400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr12:4647000-4648400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr12:4647000-4648400	Active TSS	Breast Myoepithelial Primary Cells	Breast
47	chr12:4647000-4648400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr12:4647000-4648400	Active TSS	Brain Anterior Caudate	brain
49	chr12:4647000-4648400	Active TSS	Brain Germinal Matrix	brain
50	chr12:4647000-4648400	Active TSS	Brain Hippocampus Middle	brain

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