Variant report

Variant	rs34448954
Chromosome Location	chr1:161168189-161168190
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:101)
CpG islands
(count:61)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:101 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:161168167-161172509	HUVEC	blood vessel:	n/a	n/a
2	CTCF	chr1:161168140-161168290	SK-N-SH_RA	brain:	n/a	n/a
3	CTCF	chr1:161168128-161168266	MCF-7	breast:	n/a	n/a
4	CTCF	chr1:161168120-161168270	WERI-Rb-1	eye:	n/a	n/a
5	HMGN3	chr1:161168040-161168485	K562	blood:	n/a	n/a
6	CTCF	chr1:161168004-161168315	H1-hESC	embryonic stem cell:	n/a	n/a
7	YY1	chr1:161167994-161168442	HepG2	liver:	n/a	n/a
8	CTCF	chr1:161168120-161168270	HEK293	kidney:	n/a	n/a
9	POLR2A	chr1:161168189-161168951	ProgFib	skin:	n/a	n/a
10	POLR2A	chr1:161168048-161168429	HUVEC	blood vessel:	n/a	n/a
11	SMC3	chr1:161168137-161168656	Hela-S3	cervix:	n/a	n/a
12	ZNF143	chr1:161168170-161168451	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr1:161166380-161172732	SK-N-MC	brain:	n/a	n/a
14	POLR2A	chr1:161167703-161169174	HUVEC	blood vessel:	n/a	n/a
15	CTCF	chr1:161168140-161168290	WERI-Rb-1	eye:	n/a	n/a
16	POLR2A	chr1:161167973-161169043	HUVEC	blood vessel:	n/a	n/a
17	POLR2A	chr1:161167999-161169136	PFSK-1	brain:	n/a	n/a
18	CTCF	chr1:161168060-161168210	SAEC	small airway:	n/a	n/a
19	NR2F2	chr1:161168066-161168811	MCF-7	breast:	n/a	n/a
20	CTCF	chr1:161168179-161168212	MCF-7	breast:	n/a	n/a
21	POLR2A	chr1:161168166-161168501	Hela-S3	cervix:	n/a	n/a
22	CTCF	chr1:161168080-161168230	HMEC	breast:	n/a	n/a
23	CTCF	chr1:161168098-161168309	H1-hESC	embryonic stem cell:	n/a	n/a
24	RAD21	chr1:161168073-161168308	HepG2	liver:	n/a	n/a
25	TAF1	chr1:161168061-161168403	H1-hESC	embryonic stem cell:	n/a	n/a
26	POLR2A	chr1:161167318-161169105	MCF10A-Er-Src	breast:	n/a	n/a
27	RAD21	chr1:161168026-161168304	H1-hESC	embryonic stem cell:	n/a	n/a
28	RAD21	chr1:161167895-161168458	H1-hESC	embryonic stem cell:	n/a	n/a
29	POLR2A	chr1:161167172-161169154	HUVEC	blood vessel:	n/a	n/a
30	TFAP2A	chr1:161168051-161168747	Hela-S3	cervix:	n/a	chr1:161168499-161168514 chr1:161168498-161168513
31	CTCF	chr1:161168040-161168190	HepG2	liver:	n/a	n/a
32	SIN3A	chr1:161167982-161168428	H1-hESC	embryonic stem cell:	n/a	n/a
33	CTCF	chr1:161168140-161168290	BJ	skin:	n/a	n/a
34	POLR2A	chr1:161168093-161168471	SK-N-SH	brain:	n/a	n/a
35	ZNF143	chr1:161168069-161168447	H1-hESC	embryonic stem cell:	n/a	n/a
36	CTCF	chr1:161168080-161168230	HPF	lung:	n/a	n/a
37	CTCF	chr1:161168080-161168230	AoAF	blood vessel:	n/a	n/a
38	POLR2A	chr1:161168159-161168456	H1-hESC	embryonic stem cell:	n/a	n/a
39	SMARCC1	chr1:161167745-161168779	Hela-S3	cervix:	n/a	n/a
40	CTCF	chr1:161168100-161168250	AG04450	lung:	n/a	n/a
41	MXI1	chr1:161166226-161169654	SK-N-SH	brain:	n/a	n/a
42	SMARCB1	chr1:161167838-161168651	Hela-S3	cervix:	n/a	n/a
43	RAD21	chr1:161168029-161168338	H1-hESC	embryonic stem cell:	n/a	n/a
44	TAF1	chr1:161168116-161168444	SK-N-SH	brain:	n/a	n/a
45	CTCF	chr1:161168060-161168210	AG10803	skin:	n/a	n/a
46	CTCF	chr1:161168154-161168198	ProgFib	skin:	n/a	n/a
47	POLR2A	chr1:161168176-161168932	HepG2	liver:	n/a	n/a
48	CTCF	chr1:161168040-161168190	HA-sp	spinal cord:	n/a	n/a
49	SIN3AK20	chr1:161168089-161168303	SK-N-SH	brain:	n/a	n/a
50	CTCF	chr1:161168120-161168270	HRE	kidney:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:161168145-161168195	PANC-1	pancreas:	n/a
2	chr1:161168145-161168195	SKMC	muscle:	n/a
3	chr1:161168145-161168195	CMK	blood:	n/a
4	chr1:161168145-161168195	GM12892	blood:	n/a
5	chr1:161168145-161168195	HPAEpiC	pulmonary alveolar:	n/a
6	chr1:161168145-161168195	HMEC	breast:	n/a
7	chr1:161168145-161168195	BJ	skin:	n/a
8	chr1:161168145-161168195	A549	lung:	n/a
9	chr1:161168145-161168195	HCPEpiC	choroid plexus:	n/a
10	chr1:161168145-161168195	NB4	blood:	n/a
11	chr1:161168145-161168195	NHBE	bronchial:	n/a
12	chr1:161168145-161168195	HIPEpiC	eye:	n/a
13	chr1:161168145-161168195	HCM	heart:	n/a
14	chr1:161168145-161168195	HUVEC	blood vessel:	n/a
15	chr1:161168145-161168195	AoSMC	blood vessel:	n/a
16	chr1:161168145-161168195	SK-N-SH	brain:	n/a
17	chr1:161168145-161168195	GM12878	blood:	n/a
18	chr1:161168145-161168195	ECC-1	luminal epithelium:	n/a
19	chr1:161168145-161168195	AG09319	gingival:	n/a
20	chr1:161168145-161168195	HCF	heart:	n/a
21	chr1:161168145-161168195	HEEpiC	esophagus:	n/a
22	chr1:161168145-161168195	K562	blood:	n/a
23	chr1:161168145-161168195	Caco-2	colon:	n/a
24	chr1:161168145-161168195	GM06990	blood:	n/a
25	chr1:161168145-161168195	Hela-S3	cervix:	n/a
26	chr1:161168145-161168195	AG04449	skin:	fetal
27	chr1:161168145-161168195	MCF-7	breast:	n/a
28	chr1:161168145-161168195	HL-60	blood:	n/a
29	chr1:161168145-161168195	SAEC	small airway:	n/a
30	chr1:161168145-161168195	RPTEC	kidney:	n/a
31	chr1:161168145-161168195	HRCEpiC	kidney:	n/a
32	chr1:161168145-161168195	BE2_C	brain:	n/a
33	chr1:161168145-161168195	AG10803	skin:	n/a
34	chr1:161168145-161168195	AG04450	lung:	fetal
35	chr1:161168145-161168195	NHDF-neo	bronchial:	n/a
36	chr1:161168145-161168195	IMR90	lung:	fetal
37	chr1:161168145-161168195	NH-A	brain:	n/a
38	chr1:161168145-161168195	NT2-D1	testis:	n/a
39	chr1:161168145-161168195	HEK293	kidney:	embryo
40	chr1:161168145-161168195	ProgFib	skin:	n/a
41	chr1:161168145-161168195	ovcar-3	ovarian:	n/a
42	chr1:161168145-161168195	SK-N-MC	brain:	n/a
43	chr1:161168145-161168195	LNCaP	prostate:	n/a
44	chr1:161168145-161168195	PFSK-1	brain:	n/a
45	chr1:161168145-161168195	AG09309	skin:	n/a
46	chr1:161168145-161168195	Hepatocyte	liver:	n/a
47	chr1:161168145-161168195	SK-N-SH_RA	brain:	n/a
48	chr1:161168145-161168195	H1-hESC	embryonic stem cell:	embryo
49	chr1:161168145-161168195	HAEpiC	amniotic membrane:	n/a
50	chr1:161168145-161168195	HCT-116	colon:	n/a

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:161167864..161169396-chr1:161369052..161371683,2	MCF-7	breast:
2	chr1:161167845..161171671-chr1:161283687..161286298,5	K562	blood:
3	chr1:161146149..161148738-chr1:161166807..161168817,2	MCF-7	breast:
4	chr1:161166987..161169982-chr1:161170593..161173822,5	MCF-7	breast:
5	chr1:161146691..161149700-chr1:161167979..161170838,3	K562	blood:
6	chr1:161166242..161168991-chr1:161344064..161345577,2	MCF-7	breast:
7	chr1:161167464..161169651-chr1:161275959..161277953,2	K562	blood:

No data

Variant related genes	Relation type
NDUFS2	TF binding region
ADAMTS4	TF binding region
NDUFS2	CpG island
ADAMTS4	CpG island
ENSG00000158887	Chromatin interaction
ENSG00000158850	Chromatin interaction
ENSG00000143252	Chromatin interaction
ENSG00000206921	Chromatin interaction
ENSG00000158864	Chromatin interaction
ENSG00000273075	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11576415	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11583589	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12077004	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12094497	1.00[ASN][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	nsv530077	chr1:160836448-161284904	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
2	esv32799	chr1:161161838-161171520	Active TSS Genic enhancers Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:161162800-161168400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr1:161163000-161168200	Weak transcription	Fetal Brain Male	brain
3	chr1:161163000-161169400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr1:161165200-161169600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr1:161165400-161169200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr1:161165400-161169600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr1:161165600-161170800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr1:161165800-161168800	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr1:161165800-161168800	Flanking Active TSS	Brain Cingulate Gyrus	brain
10	chr1:161165800-161169200	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr1:161165800-161169400	Weak transcription	Primary T cells from cord blood	blood
12	chr1:161165800-161169800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr1:161166000-161168600	Active TSS	Pancreas	Pancrea
14	chr1:161166000-161168800	Active TSS	Psoas Muscle	Psoas
15	chr1:161166000-161169000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr1:161166000-161169200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
17	chr1:161166000-161169400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr1:161166000-161169600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr1:161166000-161170000	Weak transcription	GM12878-XiMat	blood
20	chr1:161166200-161169000	Flanking Active TSS	Adipose Nuclei	Adipose
21	chr1:161166200-161169400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr1:161166200-161169800	Weak transcription	Primary monocytes fromperipheralblood	blood
23	chr1:161166200-161171800	Enhancers	Spleen	Spleen
24	chr1:161166400-161168400	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
25	chr1:161166400-161168600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
26	chr1:161166400-161168800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
27	chr1:161166400-161168800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr1:161166400-161168800	Flanking Active TSS	Colon Smooth Muscle	Colon
29	chr1:161166400-161168800	Flanking Active TSS	Fetal Muscle Trunk	muscle
30	chr1:161166400-161168800	Flanking Active TSS	HSMM	muscle
31	chr1:161166400-161168800	Flanking Active TSS	HSMMtube	muscle
32	chr1:161166400-161169200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr1:161166400-161169200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
34	chr1:161166400-161169200	Enhancers	NH-A	brain
35	chr1:161166400-161169400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr1:161166400-161169600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr1:161166600-161168400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr1:161166600-161168600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr1:161166600-161168600	Flanking Active TSS	Colonic Mucosa	Colon
40	chr1:161166600-161168600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
41	chr1:161166600-161168800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
42	chr1:161166600-161168800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
43	chr1:161166600-161168800	Flanking Active TSS	Rectal Smooth Muscle	rectum
44	chr1:161166600-161168800	Flanking Active TSS	NHLF	lung
45	chr1:161166600-161169000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
46	chr1:161166600-161169200	Enhancers	Stomach Mucosa	stomach
47	chr1:161166600-161169400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr1:161166600-161169400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
49	chr1:161166600-161169400	Flanking Active TSS	Fetal Stomach	stomach
50	chr1:161166600-161169400	Flanking Active TSS	Osteobl	bone

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