Variant report

Variant	rs13374906
Chromosome Location	chr1:151882725-151882726
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:55)
CpG islands
(count:61)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:55 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:151881652-151882803	K562	blood:	n/a	n/a
2	POLR2A	chr1:151881809-151883419	K562	blood:	n/a	n/a
3	POLR2A	chr1:151881527-151882779	MCF10A-Er-Src	breast:	n/a	n/a
4	GATA3	chr1:151881426-151882738	MCF-7	breast:	n/a	n/a
5	CUX1	chr1:151881756-151882759	K562	blood:	n/a	n/a
6	HCFC1	chr1:151881417-151883304	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr1:151881647-151882782	GM12878	blood:	n/a	n/a
8	HEY1	chr1:151881481-151882845	K562	blood:	n/a	n/a
9	SIN3AK20	chr1:151881510-151882788	MCF-7	breast:	n/a	n/a
10	IRF1	chr1:151881486-151883036	K562	blood:	n/a	n/a
11	POLR2A	chr1:151881547-151882775	GM12878	blood:	n/a	n/a
12	POLR2A	chr1:151881528-151882900	K562	blood:	n/a	n/a
13	MAFF	chr1:151882499-151882865	K562	blood:	n/a	n/a
14	RUNX3	chr1:151881633-151882816	GM12878	blood:	n/a	chr1:151882298-151882307
15	MAX	chr1:151881508-151882804	MCF-7	breast:	n/a	n/a
16	MYC	chr1:151881546-151882746	K562	blood:	n/a	n/a
17	SIN3AK20	chr1:151881479-151882752	MCF-7	breast:	n/a	n/a
18	POLR2A	chr1:151881642-151882740	HEK293	kidney:	n/a	n/a
19	MAZ	chr1:151881392-151882866	IMR90	lung:	n/a	n/a
20	MTA3	chr1:151881488-151882755	GM12878	blood:	n/a	n/a
21	GABPA	chr1:151881393-151882986	MCF-7	breast:	n/a	n/a
22	MXI1	chr1:151881157-151883004	IMR90	lung:	n/a	chr1:151882314-151882323
23	IRF1	chr1:151881529-151882753	K562	blood:	n/a	n/a
24	TEAD4	chr1:151881610-151882791	K562	blood:	n/a	n/a
25	SRF	chr1:151881456-151882767	MCF-7	breast:	n/a	n/a
26	MAX	chr1:151881465-151882780	HCT-116	colon:	n/a	n/a
27	POLR2A	chr1:151881479-151882992	H1-hESC	embryonic stem cell:	n/a	n/a
28	MYC	chr1:151881640-151882762	NB4	blood:	n/a	n/a
29	MTA3	chr1:151882090-151882782	GM12878	blood:	n/a	n/a
30	POLR2A	chr1:151881524-151882802	PBDE	blood:	n/a	n/a
31	POLR2A	chr1:151879473-151883028	K562	blood:	n/a	n/a
32	SMARCC1	chr1:151881577-151882751	Hela-S3	cervix:	n/a	n/a
33	ELF1	chr1:151881535-151882795	MCF-7	breast:	n/a	chr1:151882189-151882200 chr1:151882190-151882199 chr1:151882188-151882201
34	EP300	chr1:151881664-151882798	HepG2	liver:	n/a	chr1:151882190-151882197
35	POLR2A	chr1:151881648-151882828	NB4	blood:	n/a	n/a
36	POLR2A	chr1:151881608-151882893	K562	blood:	n/a	n/a
37	ELF1	chr1:151881431-151882766	MCF-7	breast:	n/a	chr1:151882189-151882200 chr1:151882190-151882199 chr1:151882188-151882201
38	POLR2A	chr1:151881381-151882890	Hela-S3	cervix:	n/a	n/a
39	POLR2A	chr1:151881490-151882856	HepG2	liver:	n/a	n/a
40	MAX	chr1:151881599-151882732	NB4	blood:	n/a	n/a
41	NR2F2	chr1:151881351-151882938	MCF-7	breast:	n/a	n/a
42	POLR2A	chr1:151881512-151882754	HL-60	blood:	n/a	n/a
43	POLR2A	chr1:151881069-151883044	MCF10A-Er-Src	breast:	n/a	n/a
44	POLR2A	chr1:151881613-151882836	H1-hESC	embryonic stem cell:	n/a	n/a
45	POLR2A	chr1:151881550-151882799	GM12878	blood:	n/a	n/a
46	POU5F1	chr1:151882475-151882756	H1-hESC	embryonic stem cell:	n/a	chr1:151882590-151882604 chr1:151882590-151882604 chr1:151882590-151882604
47	E2F6	chr1:151881639-151882804	K562	blood:	n/a	chr1:151881655-151881664
48	POLR2A	chr1:151881587-151883266	PANC-1	pancreas:	n/a	n/a
49	STAT5A	chr1:151881891-151882763	GM12878	blood:	n/a	n/a
50	MYC	chr1:151881605-151882725	K562	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:151882675-151882725	HCM	heart:	n/a
2	chr1:151882675-151882725	SK-N-SH	brain:	n/a
3	chr1:151882675-151882725	Hepatocyte	liver:	n/a
4	chr1:151882675-151882725	SK-N-MC	brain:	n/a
5	chr1:151882675-151882725	NT2-D1	testis:	n/a
6	chr1:151882675-151882725	GM06990	blood:	n/a
7	chr1:151882675-151882725	HCPEpiC	choroid plexus:	n/a
8	chr1:151882675-151882725	HPAEpiC	pulmonary alveolar:	n/a
9	chr1:151882675-151882725	AG04450	lung:	fetal
10	chr1:151882675-151882725	HAEpiC	amniotic membrane:	n/a
11	chr1:151882675-151882725	AG10803	skin:	n/a
12	chr1:151882675-151882725	Jurkat	blood:	n/a
13	chr1:151882675-151882725	NH-A	brain:	n/a
14	chr1:151882675-151882725	HRE	kidney:	n/a
15	chr1:151882675-151882725	SKMC	muscle:	n/a
16	chr1:151882675-151882725	AG09309	skin:	n/a
17	chr1:151882675-151882725	CMK	blood:	n/a
18	chr1:151882675-151882725	HUVEC	blood vessel:	n/a
19	chr1:151882675-151882725	SAEC	small airway:	n/a
20	chr1:151882675-151882725	PANC-1	pancreas:	n/a
21	chr1:151882675-151882725	AG09319	gingival:	n/a
22	chr1:151882675-151882725	ovcar-3	ovarian:	n/a
23	chr1:151882675-151882725	Hela-S3	cervix:	n/a
24	chr1:151882675-151882725	BE2_C	brain:	n/a
25	chr1:151882675-151882725	PrEC	prostate:	n/a
26	chr1:151882675-151882725	HL-60	blood:	n/a
27	chr1:151882675-151882725	HRCEpiC	kidney:	n/a
28	chr1:151882675-151882725	HMEC	breast:	n/a
29	chr1:151882675-151882725	K562	blood:	n/a
30	chr1:151882675-151882725	NHDF-neo	bronchial:	n/a
31	chr1:151882675-151882725	Caco-2	colon:	n/a
32	chr1:151882675-151882725	LNCaP	prostate:	n/a
33	chr1:151882675-151882725	ProgFib	skin:	n/a
34	chr1:151882675-151882725	RPTEC	kidney:	n/a
35	chr1:151882675-151882725	HNPCEpiC	eye:	n/a
36	chr1:151882675-151882725	HIPEpiC	eye:	n/a
37	chr1:151882675-151882725	T-47D	breast:	n/a
38	chr1:151882675-151882725	PFSK-1	brain:	n/a
39	chr1:151882675-151882725	GM19239	blood:	n/a
40	chr1:151882675-151882725	AG04449	skin:	fetal
41	chr1:151882675-151882725	A549	lung:	n/a
42	chr1:151882675-151882725	ECC-1	luminal epithelium:	n/a
43	chr1:151882675-151882725	MCF10A-Er-Src	breast:	n/a
44	chr1:151882675-151882725	NB4	blood:	n/a
45	chr1:151882675-151882725	HEEpiC	esophagus:	n/a
46	chr1:151882675-151882725	U87	brain:	n/a
47	chr1:151882675-151882725	NHBE	bronchial:	n/a
48	chr1:151882675-151882725	BJ	skin:	n/a
49	chr1:151882675-151882725	HEK293	kidney:	embryo
50	chr1:151882675-151882725	IMR90	lung:	fetal

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:151861522..151872673-chr1:151876647..151885029,20	MCF-7	breast:
2	chr1:151882662..151885279-chr19:12903227..12904893,2	MCF-7	breast:
3	chr1:151881661..151883557-chr1:152019981..152021490,2	K562	blood:
4	chr1:151863646..151865677-chr1:151881470..151883641,2	K562	blood:
5	chr1:151879131..151885542-chr1:151961269..151968730,13	MCF-7	breast:
6	chr1:151877897..151883557-chr1:152019456..152022411,7	K562	blood:
7	chr1:151880209..151887387-chr1:151961986..151968084,15	MCF-7	breast:
8	chr1:151880619..151883226-chr1:151961289..151965303,4	K562	blood:
9	chr1:151882007..151882842-chr6:74230172..74230891,2	Hela-S3	cervix:
10	chr1:151881708..151882900-chr15:59041095..59042389,4	Hela-S3	cervix:
11	chr1:151879353..151883785-chr1:152005989..152009719,8	K562	blood:
12	chr1:151879656..151883388-chr1:152007614..152010954,7	K562	blood:
13	chr1:151810931..151813859-chr1:151881520..151883452,3	MCF-7	breast:
14	chr1:151882722..151885720-chr1:151898176..151900104,2	MCF-7	breast:

No data

Variant related genes	Relation type
THEM4	TF binding region
THEM4	CpG island
ENSG00000229021	Chromatin interaction
ENSG00000137845	Chromatin interaction
ENSG00000156508	Chromatin interaction
ENSG00000095066	Chromatin interaction
ENSG00000159445	Chromatin interaction
ENSG00000197747	Chromatin interaction
ENSG00000225556	Chromatin interaction
ENSG00000163191	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs13374107	1.00[EUR][1000 genomes]
rs13375166	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13375962	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs16833656	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs16833804	1.00[EUR][1000 genomes]
rs16833808	1.00[EUR][1000 genomes]
rs16833817	1.00[EUR][1000 genomes]
rs56139802	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56179963	1.00[EUR][1000 genomes]
rs56365520	1.00[EUR][1000 genomes]
rs56399868	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs57923558	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58275074	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59596794	1.00[EUR][1000 genomes]
rs60251684	1.00[EUR][1000 genomes]
rs74126714	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74126720	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74126729	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74126732	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74126760	1.00[EUR][1000 genomes]
rs74126777	1.00[EUR][1000 genomes]
rs74126788	1.00[EUR][1000 genomes]
rs74126790	1.00[EUR][1000 genomes]
rs74126802	1.00[EUR][1000 genomes]
rs74129506	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007097	chr1:151832796-152227977	Strong transcription Genic enhancers Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	196 gene(s)	inside rSNPs	diseases
2	nsv1012327	chr1:151835544-152200890	Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	196 gene(s)	inside rSNPs	diseases
3	nsv535159	chr1:151835544-152200890	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	196 gene(s)	inside rSNPs	diseases
4	nsv547852	chr1:151843044-151955230	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
5	nsv872441	chr1:151850072-152034430	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	191 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151880200-151882800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
2	chr1:151880400-151883000	Active TSS	iPS-15b Cell Line	embryonic stem cell
3	chr1:151880600-151883400	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr1:151881000-151882800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr1:151881000-151882800	Active TSS	Colonic Mucosa	Colon
6	chr1:151881000-151883000	Active TSS	H9 Cell Line	embryonic stem cell
7	chr1:151881000-151883000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr1:151881000-151883000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr1:151881000-151883000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr1:151881000-151883000	Active TSS	GM12878-XiMat	blood
11	chr1:151881000-151883400	Active TSS	HUES6 Cell Line	embryonic stem cell
12	chr1:151881200-151882800	Active TSS	HUES64 Cell Line	embryonic stem cell
13	chr1:151881200-151882800	Active TSS	Brain Hippocampus Middle	brain
14	chr1:151881200-151882800	Active TSS	Right Ventricle	heart
15	chr1:151881200-151882800	Active TSS	NHLF	lung
16	chr1:151881200-151883000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr1:151881200-151883000	Active TSS	Aorta	Aorta
18	chr1:151881200-151883000	Active TSS	Fetal Intestine Large	intestine
19	chr1:151881200-151883000	Active TSS	Psoas Muscle	Psoas
20	chr1:151881200-151883000	Active TSS	Rectal Smooth Muscle	rectum
21	chr1:151881200-151883000	Active TSS	A549	lung
22	chr1:151881200-151883000	Active TSS	HSMM	muscle
23	chr1:151881200-151883000	Active TSS	NHDF-Ad	bronchial
24	chr1:151881400-151882800	Active TSS	H1 Cell Line	embryonic stem cell
25	chr1:151881400-151882800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
26	chr1:151881400-151882800	Active TSS	Primary T helper naive cells from peripheral blood	blood
27	chr1:151881400-151882800	Active TSS	Brain Angular Gyrus	brain
28	chr1:151881400-151882800	Bivalent/Poised TSS	Fetal Brain Female	brain
29	chr1:151881400-151882800	Active TSS	Fetal Stomach	stomach
30	chr1:151881400-151882800	Active TSS	Ovary	ovary
31	chr1:151881400-151882800	Active TSS	HSMMtube	muscle
32	chr1:151881400-151883000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
33	chr1:151881400-151883000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr1:151881600-151882800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr1:151881600-151882800	Active TSS	iPS-20b Cell Line	embryonic stem cell
36	chr1:151881600-151882800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr1:151881600-151882800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr1:151881600-151882800	Active TSS	Primary T cells from cord blood	blood
39	chr1:151881600-151882800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr1:151881600-151882800	Active TSS	Brain Cingulate Gyrus	brain
41	chr1:151881600-151882800	Active TSS	Pancreas	Pancrea
42	chr1:151881600-151882800	Active TSS	Placenta Amnion	Placenta Amnion
43	chr1:151881600-151882800	Active TSS	Stomach Mucosa	stomach
44	chr1:151881600-151883000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr1:151881600-151883000	Active TSS	Primary T helper cells PMA-I stimulated	--
46	chr1:151881600-151883000	Active TSS	Left Ventricle	heart
47	chr1:151881800-151882800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr1:151881800-151882800	Bivalent/Poised TSS	Thymus	Thymus
49	chr1:151882000-151883000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr1:151882000-151883000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin

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