Variant report

Variant	rs58112975
Chromosome Location	chr14:68287227-68287228
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	chr14:68287214-68287554	K562	blood:	n/a	chr14:68287445-68287455
2	MAX	chr14:68286216-68287739	A549	lung:	n/a	chr14:68287445-68287455
3	POLR2A	chr14:68287148-68287738	K562	blood:	n/a	n/a
4	POLR2A	chr14:68287114-68287480	K562	blood:	n/a	n/a
5	MYC	chr14:68286308-68287743	NB4	blood:	n/a	chr14:68287445-68287455
6	POLR2A	chr14:68286395-68287428	HepG2	liver:	n/a	n/a
7	MAX	chr14:68286417-68287662	K562	blood:	n/a	chr14:68287445-68287455
8	POLR2A	chr14:68286321-68287352	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr14:68286333-68287857	Raji	blood:	n/a	n/a
10	POLR2A	chr14:68287137-68287583	GM12891	blood:	n/a	n/a
11	MAX	chr14:68286292-68287674	A549	lung:	n/a	chr14:68287445-68287455
12	POLR2A	chr14:68286161-68287737	HUVEC	blood vessel:	n/a	n/a
13	RELA	chr14:68286267-68287501	GM12891	blood:	n/a	n/a
14	ARID3A	chr14:68287144-68287398	HepG2	liver:	n/a	n/a
15	MAX	chr14:68287139-68287755	HepG2	liver:	n/a	chr14:68287445-68287455
16	MAX	chr14:68286251-68287702	MCF-7	breast:	n/a	chr14:68287445-68287455
17	BHLHE40	chr14:68286327-68287586	GM12878	blood:	n/a	n/a
18	BHLHE40	chr14:68287170-68287530	HepG2	liver:	n/a	n/a
19	MYC	chr14:68286394-68287659	MCF10A-Er-Src	breast:	n/a	chr14:68287445-68287455
20	MTA3	chr14:68286158-68287606	GM12878	blood:	n/a	n/a
21	POLR2A	chr14:68286295-68287648	GM12878	blood:	n/a	n/a
22	MYC	chr14:68286343-68287648	K562	blood:	n/a	chr14:68287445-68287455
23	POLR2A	chr14:68286266-68287787	GM12891	blood:	n/a	n/a
24	POLR2A	chr14:68286274-68287384	GM12892	blood:	n/a	n/a
25	CEBPB	chr14:68287127-68287330	IMR90	lung:	n/a	n/a
26	RAD21	chr14:68287052-68287256	A549	lung:	n/a	n/a
27	MAX	chr14:68287143-68287512	K562	blood:	n/a	chr14:68287445-68287455
28	CUX1	chr14:68286268-68287273	GM12878	blood:	n/a	chr14:68286335-68286349 chr14:68287227-68287241
29	POLR2A	chr14:68286166-68287628	SK-N-MC	brain:	n/a	n/a
30	MYC	chr14:68286314-68287772	K562	blood:	n/a	chr14:68287445-68287455
31	POLR2A	chr14:68286350-68287535	Hela-S3	cervix:	n/a	n/a
32	MAX	chr14:68286328-68287674	NB4	blood:	n/a	chr14:68287445-68287455
33	MAZ	chr14:68286300-68287431	GM12878	blood:	n/a	n/a
34	POLR2A	chr14:68287156-68287563	HepG2	liver:	n/a	n/a
35	ZNF143	chr14:68286213-68287591	GM12878	blood:	n/a	chr14:68286399-68286417 chr14:68286813-68286832 chr14:68286399-68286408 chr14:68286401-68286410 chr14:68286814-68286829
36	MAX	chr14:68286350-68287637	GM12878	blood:	n/a	chr14:68287445-68287455
37	TBP	chr14:68286350-68287560	K562	blood:	n/a	n/a
38	KAP1	chr14:68286427-68287833	HEK293	kidney:	n/a	n/a
39	HA-E2F1	chr14:68285937-68287315	MCF-7	breast:	n/a	chr14:68286513-68286527 chr14:68287243-68287250 chr14:68287243-68287250 chr14:68286664-68286673 chr14:68287243-68287250
40	CEBPB	chr14:68287173-68287315	HepG2	liver:	n/a	n/a
41	ELF1	chr14:68286263-68287391	MCF-7	breast:	n/a	chr14:68286892-68286903
42	POLR2A	chr14:68286329-68287666	PBDE	blood:	n/a	n/a
43	POLR2A	chr14:68287062-68287505	GM12878	blood:	n/a	n/a
44	POLR2A	chr14:68287067-68287666	GM12891	blood:	n/a	n/a
45	KAP1	chr14:68286923-68287700	U2OS	brain:	n/a	n/a
46	HEY1	chr14:68286949-68287634	HepG2	liver:	n/a	n/a
47	TBP	chr14:68286263-68287682	GM12878	blood:	n/a	n/a
48	HCFC1	chr14:68286155-68287678	Hela-S3	cervix:	n/a	n/a
49	MYC	chr14:68287216-68287292	HepG2	liver:	n/a	n/a
50	MAZ	chr14:68286377-68287510	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:68285810..68288248-chr14:68288285..68290736,2	MCF-7	breast:
2	chr14:68286637..68289233-chr14:68289938..68294161,6	MCF-7	breast:
3	chr14:68287076..68289014-chr14:68289318..68291889,2	K562	blood:

Variant related genes	Relation type
RAD51B	TF binding region
ZFYVE26	TF binding region
ENSG00000182185	Chromatin interaction

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10131022	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10133699	1.00[EUR][1000 genomes]
rs10134763	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10134988	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10135963	1.00[EUR][1000 genomes]
rs10136738	1.00[EUR][1000 genomes]
rs10139064	1.00[EUR][1000 genomes]
rs10139482	1.00[EUR][1000 genomes]
rs10142186	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10145923	1.00[EUR][1000 genomes]
rs10145933	1.00[EUR][1000 genomes]
rs10146242	1.00[EUR][1000 genomes]
rs10147052	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10147145	1.00[EUR][1000 genomes]
rs10150532	1.00[EUR][1000 genomes]
rs17104527	1.00[EUR][1000 genomes]
rs17104547	1.00[EUR][1000 genomes]
rs17104587	1.00[EUR][1000 genomes]
rs17104591	1.00[EUR][1000 genomes]
rs17104697	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2234512	1.00[EUR][1000 genomes]
rs2295109	1.00[EUR][1000 genomes]
rs2295110	1.00[EUR][1000 genomes]
rs28396172	0.96[AFR][1000 genomes]
rs28451245	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28479359	0.82[AFR][1000 genomes]
rs28556682	1.00[EUR][1000 genomes]
rs28780734	1.00[EUR][1000 genomes]
rs28784083	1.00[EUR][1000 genomes]
rs28817410	1.00[EUR][1000 genomes]
rs28844401	1.00[EUR][1000 genomes]
rs34057001	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35010674	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4272963	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4899218	1.00[EUR][1000 genomes]
rs4902510	1.00[EUR][1000 genomes]
rs4902516	1.00[EUR][1000 genomes]
rs4902522	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4902525	0.80[AFR][1000 genomes]
rs57023353	1.00[EUR][1000 genomes]
rs57348219	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58952057	1.00[EUR][1000 genomes]
rs59945885	1.00[EUR][1000 genomes]
rs7143223	1.00[EUR][1000 genomes]
rs7143483	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7144698	1.00[EUR][1000 genomes]
rs7145385	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7149669	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7156195	1.00[EUR][1000 genomes]
rs7157699	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7359109	1.00[EUR][1000 genomes]
rs7765	1.00[EUR][1000 genomes]
rs8005494	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8007916	1.00[EUR][1000 genomes]
rs8009762	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs8010136	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8015427	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8015609	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8018161	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8018528	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8023116	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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	nsv1042536	chr14:68136913-68343198	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv542122	chr14:68136913-68343198	Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv1054697	chr14:68202004-68345982	Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 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	chr14:68285600-68287400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr14:68285600-68287400	Active TSS	A549	lung
3	chr14:68285800-68287400	Active TSS	Primary T killer memory cells from peripheral blood	blood
4	chr14:68285800-68287400	Active TSS	Fetal Kidney	kidney
5	chr14:68285800-68287400	Active TSS	Fetal Muscle Trunk	muscle
6	chr14:68285800-68287400	Active TSS	Stomach Smooth Muscle	stomach
7	chr14:68285800-68287600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
8	chr14:68285800-68287600	Active TSS	Duodenum Smooth Muscle	Duodenum
9	chr14:68285800-68287600	Active TSS	Fetal Intestine Large	intestine
10	chr14:68285800-68287600	Active TSS	Psoas Muscle	Psoas
11	chr14:68285800-68287600	Active TSS	Right Ventricle	heart
12	chr14:68286000-68287400	Active TSS	Fetal Stomach	stomach
13	chr14:68286200-68287400	Active TSS	H1 Cell Line	embryonic stem cell
14	chr14:68286200-68287400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr14:68286200-68287400	Active TSS	HUES6 Cell Line	embryonic stem cell
16	chr14:68286200-68287400	Active TSS	iPS-20b Cell Line	embryonic stem cell
17	chr14:68286200-68287400	Active TSS	NH-A	brain
18	chr14:68286200-68287600	Active TSS	ES-I3 Cell Line	embryonic stem cell
19	chr14:68286200-68287600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr14:68286200-68287600	Active TSS	NHDF-Ad	bronchial
21	chr14:68286200-68287800	Active TSS	Stomach Mucosa	stomach
22	chr14:68286200-68288000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr14:68286200-68288200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr14:68286400-68287400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
25	chr14:68286400-68287400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
26	chr14:68286400-68287400	Active TSS	Aorta	Aorta
27	chr14:68286400-68287400	Active TSS	Gastric	stomach
28	chr14:68286400-68287600	Active TSS	H9 Cell Line	embryonic stem cell
29	chr14:68286400-68287600	Active TSS	Small Intestine	intestine
30	chr14:68286400-68287800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
31	chr14:68286400-68287800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr14:68286600-68287600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
33	chr14:68286800-68287400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
34	chr14:68286800-68287400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
35	chr14:68286800-68287400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
36	chr14:68286800-68287400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
37	chr14:68286800-68287400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr14:68286800-68287400	Flanking Active TSS	Liver	Liver
39	chr14:68286800-68287400	Flanking Active TSS	Fetal Brain Female	brain
40	chr14:68286800-68287400	Flanking Active TSS	Hela-S3	cervix
41	chr14:68286800-68287600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr14:68286800-68287600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr14:68286800-68287600	Flanking Active TSS	Fetal Lung	lung
44	chr14:68286800-68287600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
45	chr14:68286800-68287800	Flanking Active TSS	Primary B cells from cord blood	blood
46	chr14:68286800-68287800	Flanking Active TSS	Primary hematopoietic stem cells	blood
47	chr14:68286800-68287800	Flanking Active TSS	Adipose Nuclei	Adipose
48	chr14:68286800-68288000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr14:68286800-68288000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr14:68286800-68288000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood

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