Variant report

Variant	rs72985474
Chromosome Location	chr3:135968625-135968626
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	MXI1	chr3:135968554-135970729	SK-N-SH	brain:	n/a	n/a
2	GTF3C2	chr3:135968625-135969440	K562	blood:	n/a	n/a
3	HCFC1	chr3:135968361-135970554	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr3:135968497-135970273	Raji	blood:	n/a	n/a
5	ZNF384	chr3:135968303-135969389	K562	blood:	n/a	n/a
6	FOS	chr3:135968444-135968644	MCF10A-Er-Src	breast:	n/a	n/a
7	POLR2A	chr3:135968613-135968675	MCF-7	breast:	n/a	n/a
8	POLR2A	chr3:135968573-135970337	GM15510	blood:	n/a	n/a
9	PML	chr3:135968621-135970374	GM12878	blood:	n/a	n/a
10	CEBPB	chr3:135968477-135968772	H1-hESC	embryonic stem cell:	n/a	chr3:135968595-135968606
11	CTCF	chr3:135968622-135969663	A549	lung:	n/a	chr3:135969505-135969518 chr3:135969187-135969203
12	CEBPB	chr3:135968487-135968759	A549	lung:	n/a	chr3:135968595-135968606
13	CEBPB	chr3:135968446-135969485	HepG2	liver:	n/a	chr3:135968595-135968606
14	POLR2A	chr3:135968584-135970344	GM12892	blood:	n/a	n/a
15	FOS	chr3:135968504-135968703	MCF10A-Er-Src	breast:	n/a	n/a
16	STAT3	chr3:135968498-135968698	MCF10A-Er-Src	breast:	n/a	n/a
17	CEBPB	chr3:135968445-135969893	Hela-S3	cervix:	n/a	chr3:135968595-135968606
18	CREB1	chr3:135968521-135970339	HepG2	liver:	n/a	n/a
19	SMARCB1	chr3:135968566-135969599	Hela-S3	cervix:	n/a	n/a
20	CEBPB	chr3:135968496-135968709	HepG2	liver:	n/a	chr3:135968595-135968606
21	MYBL2	chr3:135968563-135970423	HepG2	liver:	n/a	n/a
22	RCOR1	chr3:135968572-135970807	IMR90	lung:	n/a	n/a
23	POLR2A	chr3:135968482-135970444	HepG2	liver:	n/a	n/a
24	CEBPB	chr3:135968439-135969426	K562	blood:	n/a	chr3:135968595-135968606
25	POLR2A	chr3:135968572-135970310	K562	blood:	n/a	n/a
26	MAX	chr3:135968504-135970291	NB4	blood:	n/a	chr3:135969975-135969985
27	FOS	chr3:135968315-135968733	MCF10A-Er-Src	breast:	n/a	n/a
28	CEBPD	chr3:135968487-135968715	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:135968568..135972532-chr3:135974380..135977728,5	K562	blood:
2	chr3:135967895..135971293-chr3:135973278..135977937,5	MCF-7	breast:
3	chr3:135912206..135917353-chr3:135967047..135972220,20	MCF-7	breast:
4	chr3:135968107..135969967-chr3:136470513..136472370,2	MCF-7	breast:
5	chr3:135912523..135919453-chr3:135966949..135972062,29	K562	blood:
6	chr3:135912324..135920790-chr3:135965276..135971841,24	K562	blood:
7	chr3:135913275..135917052-chr3:135966241..135970685,15	MCF-7	breast:
8	chr3:135967729..135968689-chr3:136062451..136063319,2	MCF-7	breast:
9	chr3:135967505..135970256-chr3:136469769..136472442,3	K562	blood:

Variant related genes	Relation type
PCCB	TF binding region
ENSG00000118007	Chromatin interaction
ENSG00000261758	Chromatin interaction
ENSG00000114054	Chromatin interaction
ENSG00000174579	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10513002	0.82[AFR][1000 genomes]
rs17265675	0.82[AFR][1000 genomes]
rs17266364	0.82[AFR][1000 genomes]
rs4125861	0.82[AFR][1000 genomes]
rs56057807	0.89[AFR][1000 genomes]
rs61598773	1.00[AMR][1000 genomes]
rs67452583	0.82[AFR][1000 genomes]
rs67677899	0.82[AFR][1000 genomes]
rs67692166	0.82[AFR][1000 genomes]
rs72985473	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869409	chr3:135649101-136164174	Strong transcription Genic enhancers Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv508246	chr3:135922023-136038622	Active TSS Enhancers Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:135965000-135968800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr3:135966400-135968800	Enhancers	Placenta	Placenta
3	chr3:135966600-135968800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr3:135966800-135968800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr3:135966800-135968800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr3:135967400-135968800	Enhancers	K562	blood
7	chr3:135967600-135969000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr3:135968000-135969000	Flanking Active TSS	HepG2	liver
9	chr3:135968400-135968800	Enhancers	Primary hematopoietic stem cells	blood
10	chr3:135968600-135968800	Enhancers	H1 Cell Line	embryonic stem cell
11	chr3:135968600-135968800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr3:135968600-135968800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr3:135968600-135968800	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr3:135968600-135968800	Enhancers	Primary neutrophils fromperipheralblood	blood
15	chr3:135968600-135968800	Enhancers	Primary B cells from cord blood	blood
16	chr3:135968600-135968800	Enhancers	Primary B cells from peripheral blood	blood
17	chr3:135968600-135968800	Enhancers	Primary T cells fromperipheralblood	blood
18	chr3:135968600-135968800	Enhancers	Primary T helper cells PMA-I stimulated	--
19	chr3:135968600-135968800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
20	chr3:135968600-135968800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
21	chr3:135968600-135968800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
22	chr3:135968600-135968800	Enhancers	Primary T killer memory cells from peripheral blood	blood
23	chr3:135968600-135968800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr3:135968600-135968800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr3:135968600-135968800	Enhancers	Brain Angular Gyrus	brain
26	chr3:135968600-135968800	Enhancers	Brain Cingulate Gyrus	brain
27	chr3:135968600-135968800	Enhancers	Brain Hippocampus Middle	brain
28	chr3:135968600-135968800	Enhancers	Colonic Mucosa	Colon
29	chr3:135968600-135968800	Enhancers	Duodenum Mucosa	Duodenum
30	chr3:135968600-135968800	Enhancers	Esophagus	oesophagus
31	chr3:135968600-135968800	Enhancers	Fetal Brain Male	brain
32	chr3:135968600-135968800	Enhancers	Fetal Muscle Leg	muscle
33	chr3:135968600-135968800	Enhancers	Fetal Thymus	thymus
34	chr3:135968600-135968800	Enhancers	Left Ventricle	heart
35	chr3:135968600-135968800	Enhancers	Lung	lung
36	chr3:135968600-135968800	Enhancers	Right Ventricle	heart
37	chr3:135968600-135968800	Active TSS	Skeletal Muscle Female	skeletal muscle
38	chr3:135968600-135968800	Enhancers	Small Intestine	intestine
39	chr3:135968600-135968800	Enhancers	Stomach Smooth Muscle	stomach
40	chr3:135968600-135968800	Enhancers	Thymus	Thymus
41	chr3:135968600-135969000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr3:135968600-135969000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
43	chr3:135968600-135969000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
44	chr3:135968600-135969000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr3:135968600-135969000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr3:135968600-135969000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
47	chr3:135968600-135969000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr3:135968600-135969000	Flanking Active TSS	Liver	Liver
49	chr3:135968600-135969000	Flanking Active TSS	Brain Substantia Nigra	brain
50	chr3:135968600-135969000	Flanking Active TSS	GM12878-XiMat	blood

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