Variant report

Variant	rs73051751
Chromosome Location	chr3:180319451-180319452
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	POLR2A	chr3:180319084-180320647	GM12878	blood:	n/a	n/a
2	POLR2A	chr3:180319357-180320575	GM19193	blood:	n/a	n/a
3	CHD1	chr3:180319412-180320233	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr3:180319339-180320262	HCT-116	colon:	n/a	n/a
5	POLR2A	chr3:180319071-180320409	HEK293	kidney:	n/a	n/a
6	ZBTB33	chr3:180319379-180320403	SK-N-SH	brain:	n/a	n/a
7	POLR2A	chr3:180319099-180320508	K562	blood:	n/a	n/a
8	TBP	chr3:180319396-180320532	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr3:180319126-180320489	HepG2	liver:	n/a	n/a
10	MAZ	chr3:180319247-180320552	Hela-S3	cervix:	n/a	chr3:180320353-180320363
11	POLR2A	chr3:180319250-180320511	Hela-S3	cervix:	n/a	n/a
12	TAL1	chr3:180319224-180320145	K562	blood:	n/a	n/a
13	MAX	chr3:180319376-180319997	H1-hESC	embryonic stem cell:	n/a	n/a
14	GABPA	chr3:180319158-180320827	MCF-7	breast:	n/a	chr3:180319961-180319968
15	MAFK	chr3:180319368-180320141	K562	blood:	n/a	n/a
16	POLR2A	chr3:180319009-180320447	MCF10A-Er-Src	breast:	n/a	n/a
17	POLR2A	chr3:180318889-180320585	GM18505	blood:	n/a	n/a
18	GABPA	chr3:180319355-180320724	HL-60	blood:	n/a	chr3:180319961-180319968
19	GABPA	chr3:180319324-180320605	SK-N-SH	brain:	n/a	chr3:180319961-180319968
20	SETDB1	chr3:180319344-180320255	U2OS	brain:	n/a	n/a
21	NFIC	chr3:180319358-180320143	HepG2	liver:	n/a	n/a
22	ZNF143	chr3:180319420-180320526	H1-hESC	embryonic stem cell:	n/a	n/a
23	MXI1	chr3:180319387-180320568	Hela-S3	cervix:	n/a	n/a
24	GABPA	chr3:180319400-180320472	A549	lung:	n/a	chr3:180319961-180319968
25	RFX5	chr3:180319338-180320587	Hela-S3	cervix:	n/a	chr3:180319351-180319359
26	FOXA1	chr3:180319390-180320149	HepG2	liver:	n/a	n/a
27	CHD2	chr3:180319390-180320474	GM12878	blood:	n/a	n/a
28	CEBPB	chr3:180319419-180320567	K562	blood:	n/a	chr3:180320374-180320383 chr3:180320373-180320384 chr3:180320372-180320385 chr3:180320372-180320383
29	NR2C2	chr3:180319376-180320407	Hela-S3	cervix:	n/a	n/a
30	POLR2A	chr3:180319231-180320551	GM12878	blood:	n/a	n/a
31	NFATC1	chr3:180319410-180320357	GM12878	blood:	n/a	n/a
32	RELA	chr3:180319438-180320467	GM15510	blood:	n/a	n/a
33	TAF1	chr3:180319378-180320432	H1-neurons	neurons:	n/a	n/a
34	EGR1	chr3:180319276-180320449	HCT-116	colon:	n/a	chr3:180319768-180319777 chr3:180319883-180319893 chr3:180320293-180320302 chr3:180319880-180319893 chr3:180319901-180319910
35	SETDB1	chr3:180319405-180320498	K562	blood:	n/a	n/a
36	CHD2	chr3:180319431-180320198	H1-hESC	embryonic stem cell:	n/a	n/a
37	POLR2A	chr3:180319437-180320227	PFSK-1	brain:	n/a	n/a
38	POLR2A	chr3:180319237-180320540	K562	blood:	n/a	n/a
39	REST	chr3:180319110-180320674	H1-neurons	neurons:	n/a	n/a
40	ELK1	chr3:180319429-180320450	Hela-S3	cervix:	n/a	chr3:180319934-180319943 chr3:180319934-180319943
41	POLR2A	chr3:180319432-180320543	MCF-7	breast:	n/a	n/a
42	TCF12	chr3:180319337-180320532	ECC-1	luminal epithelium:	n/a	n/a
43	CEBPB	chr3:180319402-180321089	HepG2	liver:	n/a	chr3:180320374-180320383 chr3:180320373-180320384 chr3:180320372-180320385 chr3:180320372-180320383
44	CEBPB	chr3:180319438-180320573	IMR90	lung:	n/a	chr3:180320374-180320383 chr3:180320373-180320384 chr3:180320372-180320385 chr3:180320372-180320383
45	YY1	chr3:180319445-180320132	HCT-116	colon:	n/a	chr3:180319873-180319882
46	MAX	chr3:180319437-180320475	GM12878	blood:	n/a	chr3:180320353-180320363
47	ZBTB33	chr3:180319358-180320529	SK-N-SH	brain:	n/a	n/a
48	MYBL2	chr3:180319349-180320559	HepG2	liver:	n/a	n/a
49	JUN	chr3:180319326-180320331	K562	blood:	n/a	chr3:180319329-180319341
50	RCOR1	chr3:180319286-180320439	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:180306061..180309935-chr3:180317772..180319906,3	K562	blood:
2	chr3:180306061..180309253-chr3:180317592..180321304,5	K562	blood:
3	chr2:47596130..47596899-chr3:180319390..180320186,2	HCT-116	colon:

Variant related genes	Relation type
TTC14	TF binding region
ENSG00000119888	Chromatin interaction
ENSG00000241946	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs16831738	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16831747	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16831754	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57014493	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57230068	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57924206	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6809956	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73051715	0.81[AFR][1000 genomes]
rs73051732	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73051738	0.90[AFR][1000 genomes];1.00[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	nsv1007831	chr3:180162003-180348203	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv536818	chr3:180162003-180348203	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	esv3359190	chr3:180298396-180397223	Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:180318600-180319600	Bivalent/Poised TSS	Fetal Lung	lung
2	chr3:180318800-180320200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr3:180318800-180321000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr3:180318800-180321200	Active TSS	HUES48 Cell Line	embryonic stem cell
5	chr3:180319000-180319600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr3:180319000-180319600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr3:180319000-180319600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr3:180319000-180320000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr3:180319000-180320600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr3:180319000-180320800	Active TSS	Brain Cingulate Gyrus	brain
11	chr3:180319000-180320800	Active TSS	Brain Substantia Nigra	brain
12	chr3:180319000-180321000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
13	chr3:180319000-180321000	Active TSS	H9 Cell Line	embryonic stem cell
14	chr3:180319000-180321000	Active TSS	iPS-15b Cell Line	embryonic stem cell
15	chr3:180319000-180321000	Active TSS	iPS-18 Cell Line	embryonic stem cell
16	chr3:180319000-180321000	Active TSS	NH-A	brain
17	chr3:180319000-180321200	Active TSS	ES-I3 Cell Line	embryonic stem cell
18	chr3:180319000-180321200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr3:180319000-180321400	Active TSS	H1 Cell Line	embryonic stem cell
20	chr3:180319000-180321400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr3:180319000-180321400	Active TSS	GM12878-XiMat	blood
22	chr3:180319200-180319600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr3:180319200-180319600	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood
24	chr3:180319200-180319600	Flanking Active TSS	Primary T cells from cord blood	blood
25	chr3:180319200-180319600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
26	chr3:180319200-180319600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
27	chr3:180319200-180319600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
28	chr3:180319200-180319600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
29	chr3:180319200-180319600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
30	chr3:180319200-180319600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr3:180319200-180319600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr3:180319200-180319600	Flanking Active TSS	Liver	Liver
33	chr3:180319200-180319600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
34	chr3:180319200-180319600	Flanking Active TSS	Duodenum Mucosa	Duodenum
35	chr3:180319200-180319600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
36	chr3:180319200-180319600	Flanking Active TSS	NHDF-Ad	bronchial
37	chr3:180319200-180319600	Flanking Active TSS	Osteobl	bone
38	chr3:180319200-180319800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
39	chr3:180319200-180319800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
40	chr3:180319200-180319800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
41	chr3:180319200-180319800	Flanking Active TSS	Adipose Nuclei	Adipose
42	chr3:180319200-180319800	Bivalent/Poised TSS	Fetal Brain Male	brain
43	chr3:180319200-180319800	Flanking Active TSS	Hela-S3	cervix
44	chr3:180319200-180319800	Flanking Active TSS	HMEC	breast
45	chr3:180319200-180320200	Active TSS	Primary hematopoietic stem cells	blood
46	chr3:180319200-180320400	Bivalent/Poised TSS	Brain Germinal Matrix	brain
47	chr3:180319200-180320600	Active TSS	Primary T regulatory cells fromperipheralblood	blood
48	chr3:180319200-180320600	Active TSS	Brain Anterior Caudate	brain
49	chr3:180319200-180320600	Active TSS	Duodenum Smooth Muscle	Duodenum
50	chr3:180319200-180320600	Active TSS	Fetal Adrenal Gland	Adrenal Gland

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