Variant report

Variant	rs670143
Chromosome Location	chr1:176176495-176176496
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	chr1:176175226-176177319	IMR90	lung:	n/a	n/a
2	GABPA	chr1:176176308-176176589	GM12878	blood:	n/a	n/a
3	CCNT2	chr1:176175646-176176976	K562	blood:	n/a	chr1:176176501-176176510
4	YY1	chr1:176175676-176177017	GM12892	blood:	n/a	chr1:176176350-176176359 chr1:176176347-176176356
5	TBP	chr1:176175381-176177046	H1-hESC	embryonic stem cell:	n/a	n/a
6	SIN3AK20	chr1:176175517-176176650	PANC-1	pancreas:	n/a	n/a
7	POLR2A	chr1:176175999-176176999	H1-hESC	embryonic stem cell:	n/a	n/a
8	ELF1	chr1:176176166-176176963	HepG2	liver:	n/a	chr1:176176352-176176364 chr1:176176350-176176359
9	MXI1	chr1:176176282-176177000	H1-hESC	embryonic stem cell:	n/a	n/a
10	CBX3	chr1:176176089-176177083	K562	blood:	n/a	n/a
11	SMC3	chr1:176175263-176177175	Hela-S3	cervix:	n/a	n/a
12	NR2F2	chr1:176175992-176176992	MCF-7	breast:	n/a	n/a
13	POLR2A	chr1:176175368-176177639	HL-60	blood:	n/a	n/a
14	POLR2A	chr1:176175251-176177242	SK-N-MC	brain:	n/a	n/a
15	MAZ	chr1:176175290-176177077	Hela-S3	cervix:	n/a	n/a
16	SIN3AK20	chr1:176176361-176176715	PANC-1	pancreas:	n/a	n/a
17	TAF1	chr1:176176006-176176775	H1-neurons	neurons:	n/a	n/a
18	SP1	chr1:176175983-176177033	A549	lung:	n/a	chr1:176176297-176176306 chr1:176176293-176176307
19	NR2F2	chr1:176176192-176177205	K562	blood:	n/a	n/a
20	E2F6	chr1:176176169-176177062	A549	lung:	n/a	chr1:176176754-176176763 chr1:176176488-176176502 chr1:176176485-176176499 chr1:176176348-176176358 chr1:176176685-176176694
21	POLR2A	chr1:176175470-176177386	GM18526	blood:	n/a	n/a
22	POLR2A	chr1:176175383-176177259	MCF-7	breast:	n/a	n/a
23	E2F6	chr1:176176245-176176504	K562	blood:	n/a	chr1:176176488-176176502 chr1:176176485-176176499 chr1:176176348-176176358
24	POLR2A	chr1:176175377-176177535	K562	blood:	n/a	n/a
25	BCL3	chr1:176176194-176176859	A549	lung:	n/a	chr1:176176458-176176471 chr1:176176349-176176358 chr1:176176298-176176307
26	E2F1	chr1:176175734-176176886	Hela-S3	cervix:	n/a	chr1:176176754-176176763 chr1:176176488-176176502 chr1:176176485-176176499 chr1:176176348-176176358 chr1:176176685-176176694
27	JUND	chr1:176176132-176177060	A549	lung:	n/a	n/a
28	SIN3AK20	chr1:176175822-176177316	MCF-7	breast:	n/a	n/a
29	CTCF	chr1:176176460-176176610	AG09319	gingival:	n/a	n/a
30	EBF1	chr1:176176107-176177066	GM12878	blood:	n/a	n/a
31	SIN3AK20	chr1:176176401-176176657	A549	lung:	n/a	n/a
32	MAZ	chr1:176175216-176177232	IMR90	lung:	n/a	n/a
33	ZNF143	chr1:176176365-176177055	K562	blood:	n/a	n/a
34	MTA3	chr1:176175398-176177281	GM12878	blood:	n/a	n/a
35	TAL1	chr1:176176340-176177034	K562	blood:	n/a	n/a
36	POLR2A	chr1:176175414-176177093	H1-hESC	embryonic stem cell:	n/a	n/a
37	MYBL2	chr1:176176267-176177144	HepG2	liver:	n/a	n/a
38	YY1	chr1:176176139-176176581	GM12891	blood:	n/a	chr1:176176350-176176359 chr1:176176347-176176356
39	POLR2A	chr1:176176004-176177200	Hela-S3	cervix:	n/a	n/a
40	GABPA	chr1:176176256-176176581	HepG2	liver:	n/a	n/a
41	POLR2A	chr1:176175323-176177137	H1-neurons	neurons:	n/a	n/a
42	POLR2A	chr1:176175978-176177099	PANC-1	pancreas:	n/a	n/a
43	POLR2A	chr1:176176059-176177230	GM12878	blood:	n/a	n/a
44	NRF1	chr1:176176402-176177069	Hela-S3	cervix:	n/a	chr1:176176684-176176693 chr1:176176753-176176764 chr1:176176752-176176763 chr1:176176753-176176767 chr1:176176681-176176695 chr1:176176684-176176698 chr1:176176684-176176695
45	RCOR1	chr1:176175552-176176916	HepG2	liver:	n/a	n/a
46	MAX	chr1:176175238-176177094	Hela-S3	cervix:	n/a	n/a
47	NRF1	chr1:176176286-176176983	H1-hESC	embryonic stem cell:	n/a	chr1:176176684-176176693 chr1:176176753-176176764 chr1:176176752-176176763 chr1:176176753-176176767 chr1:176176681-176176695 chr1:176176684-176176698 chr1:176176684-176176695
48	POLR2A	chr1:176175593-176177516	GM12878	blood:	n/a	n/a
49	BHLHE40	chr1:176176144-176177168	K562	blood:	n/a	chr1:176176349-176176365
50	ZBTB33	chr1:176176213-176176751	HCT-116	colon:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:176176462-176176512	SKMC	muscle:	n/a
2	chr1:176176494-176176544	HNPCEpiC	eye:	n/a
3	chr1:176176494-176176544	NH-A	brain:	n/a
4	chr1:176176462-176176512	GM12892	blood:	n/a
5	chr1:176176494-176176544	AG09319	gingival:	n/a
6	chr1:176176494-176176544	ovcar-3	ovarian:	n/a
7	chr1:176176494-176176544	PrEC	prostate:	n/a
8	chr1:176176462-176176512	HCF	heart:	n/a
9	chr1:176176494-176176544	Hepatocyte	liver:	n/a
10	chr1:176176462-176176512	AG04449	skin:	fetal
11	chr1:176176494-176176544	NHBE	bronchial:	n/a
12	chr1:176176462-176176512	AG09309	skin:	n/a
13	chr1:176176462-176176512	NH-A	brain:	n/a
14	chr1:176176494-176176544	BE2_C	brain:	n/a
15	chr1:176176494-176176544	Caco-2	colon:	n/a
16	chr1:176176494-176176544	IMR90	lung:	fetal
17	chr1:176176494-176176544	HRPEpiC	eye:	n/a
18	chr1:176176494-176176544	CMK	blood:	n/a
19	chr1:176176462-176176512	MCF-7	breast:	n/a
20	chr1:176176462-176176512	HPAEpiC	pulmonary alveolar:	n/a
21	chr1:176176494-176176544	SK-N-SH	brain:	n/a
22	chr1:176176494-176176544	HIPEpiC	eye:	n/a
23	chr1:176176462-176176512	NB4	blood:	n/a
24	chr1:176176494-176176544	HPAEpiC	pulmonary alveolar:	n/a
25	chr1:176176462-176176512	HRCEpiC	kidney:	n/a
26	chr1:176176462-176176512	T-47D	breast:	n/a
27	chr1:176176494-176176544	HL-60	blood:	n/a
28	chr1:176176494-176176544	K562	blood:	n/a
29	chr1:176176494-176176544	HCF	heart:	n/a
30	chr1:176176494-176176544	HMEC	breast:	n/a
31	chr1:176176494-176176544	SK-N-SH_RA	brain:	n/a
32	chr1:176176494-176176544	HCPEpiC	choroid plexus:	n/a
33	chr1:176176494-176176544	NT2-D1	testis:	n/a
34	chr1:176176462-176176512	HUVEC	blood vessel:	n/a
35	chr1:176176494-176176544	NB4	blood:	n/a
36	chr1:176176494-176176544	HEEpiC	esophagus:	n/a
37	chr1:176176462-176176512	SAEC	small airway:	n/a
38	chr1:176176462-176176512	MCF10A-Er-Src	breast:	n/a
39	chr1:176176462-176176512	K562	blood:	n/a
40	chr1:176176494-176176544	NHDF-neo	bronchial:	n/a
41	chr1:176176462-176176512	ECC-1	luminal epithelium:	n/a
42	chr1:176176462-176176512	NHDF-neo	bronchial:	n/a
43	chr1:176176462-176176512	HepG2	liver:	n/a
44	chr1:176176462-176176512	AG09319	gingival:	n/a
45	chr1:176176462-176176512	RPTEC	kidney:	n/a
46	chr1:176176494-176176544	AG10803	skin:	n/a
47	chr1:176176462-176176512	Hela-S3	cervix:	n/a
48	chr1:176176494-176176544	GM19239	blood:	n/a
49	chr1:176176494-176176544	HCT-116	colon:	n/a
50	chr1:176176494-176176544	ProgFib	skin:	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:176103163..176105549-chr1:176174911..176176507,2	MCF-7	breast:
2	chr1:176175971..176176718-chr3:25824599..25825333,2	NB4	blood:
3	chr1:176175984..176176866-chr22:41842653..41843200,2	NB4	blood:
4	chr1:176176297..176177165-chr19:18391561..18392505,2	Hela-S3	cervix:
5	chr1:176153551..176156175-chr1:176174165..176176640,2	K562	blood:
6	chr1:175160152..175162627-chr1:176175775..176178430,2	MCF-7	breast:
7	chr1:176175578..176178265-chr17:56707734..56709644,2	MCF-7	breast:
8	chr1:176175641..176176593-chr17:7140799..7141336,2	NB4	blood:
9	chr1:173835621..173837414-chr1:176175490..176177844,2	MCF-7	breast:
10	chr1:176176446..176177269-chrX:153237235..153238074,2	Hela-S3	cervix:

Variant related genes	Relation type
ENSG00000236021	TF binding region
RFWD2	TF binding region
RFWD2	CpG island
ENSG00000236021	CpG island
ENSG00000212195	Chromatin interaction
ENSG00000183864	Chromatin interaction
ENSG00000185278	Chromatin interaction
ENSG00000151092	Chromatin interaction
ENSG00000143207	Chromatin interaction
ENSG00000177854	Chromatin interaction
ENSG00000172534	Chromatin interaction
ENSG00000235750	Chromatin interaction
ENSG00000234741	Chromatin interaction
ENSG00000130522	Chromatin interaction
ENSG00000040633	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10798445	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10913152	0.84[AMR][1000 genomes]
rs12117377	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12758275	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1858537	0.86[AMR][1000 genomes]
rs191606	0.84[AMR][1000 genomes]
rs1974142	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2039230	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2102479	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2175178	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2455730	0.84[AMR][1000 genomes]
rs2455732	0.84[AMR][1000 genomes]
rs2455749	0.86[AMR][1000 genomes]
rs2455762	0.81[AMR][1000 genomes]
rs2457418	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2481628	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2481630	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2481631	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2481633	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2481662	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2487144	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2502831	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2502845	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2504501	0.84[AMR][1000 genomes]
rs35907544	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs3962371	0.86[AMR][1000 genomes]
rs4298694	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs482228	0.83[AMR][1000 genomes]
rs501142	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs513354	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs520661	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs534088	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs542742	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs596859	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs617078	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs659279	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6665385	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs668154	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6687280	0.83[AMR][1000 genomes]
rs6697860	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6700932	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs679728	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs704829	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs704834	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs71645275	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7535769	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs791743	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs791746	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs791747	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs791750	0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs791751	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs791752	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs791753	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs813180	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9425447	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs944365	0.91[EUR][1000 genomes];0.88[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	esv1823794	chr1:175869554-176311778	Enhancers ZNF genes & repeats Strong transcription Weak transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv872563	chr1:175949646-176184625	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:176173800-176177600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr1:176173800-176177600	Active TSS	HSMM	muscle
3	chr1:176174000-176177200	Active TSS	Fetal Intestine Small	intestine
4	chr1:176174000-176177400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
5	chr1:176174000-176177400	Active TSS	Right Ventricle	heart
6	chr1:176174000-176177600	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr1:176174000-176177600	Active TSS	HSMMtube	muscle
8	chr1:176174200-176177200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr1:176174200-176177200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
10	chr1:176174200-176177200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr1:176174200-176177200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr1:176174200-176177200	Active TSS	Fetal Muscle Leg	muscle
13	chr1:176174200-176177200	Active TSS	Psoas Muscle	Psoas
14	chr1:176174200-176177400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr1:176174200-176177400	Active TSS	Fetal Intestine Large	intestine
16	chr1:176174200-176177400	Active TSS	Ovary	ovary
17	chr1:176174200-176177600	Active TSS	HUES64 Cell Line	embryonic stem cell
18	chr1:176174200-176177600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr1:176174200-176177800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr1:176174400-176177200	Active TSS	Primary T cells fromperipheralblood	blood
21	chr1:176174400-176177400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr1:176174400-176177400	Active TSS	Primary hematopoietic stem cells short term culture	blood
23	chr1:176174400-176177400	Active TSS	Aorta	Aorta
24	chr1:176174400-176177400	Active TSS	NHDF-Ad	bronchial
25	chr1:176174400-176177600	Active TSS	NHLF	lung
26	chr1:176174400-176178200	Active TSS	GM12878-XiMat	blood
27	chr1:176174600-176177000	Active TSS	Primary monocytes fromperipheralblood	blood
28	chr1:176174600-176177200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr1:176174600-176177200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr1:176174600-176177200	Active TSS	Colonic Mucosa	Colon
31	chr1:176174600-176177400	Active TSS	H1 Cell Line	embryonic stem cell
32	chr1:176174600-176177600	Active TSS	H9 Cell Line	embryonic stem cell
33	chr1:176174600-176177600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr1:176174600-176177600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr1:176174600-176177600	Active TSS	HUES48 Cell Line	embryonic stem cell
36	chr1:176174800-176177000	Active TSS	Fetal Stomach	stomach
37	chr1:176174800-176177000	Active TSS	Monocytes-CD14+_RO01746	blood
38	chr1:176174800-176177200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr1:176174800-176177200	Active TSS	Breast Myoepithelial Primary Cells	Breast
40	chr1:176174800-176177200	Active TSS	Fetal Thymus	thymus
41	chr1:176174800-176177200	Active TSS	Sigmoid Colon	Sigmoid Colon
42	chr1:176174800-176177600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr1:176174800-176177600	Active TSS	iPS-15b Cell Line	embryonic stem cell
44	chr1:176174800-176177600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr1:176175000-176176800	Active TSS	Rectal Mucosa Donor 29	rectum
46	chr1:176175000-176177000	Active TSS	iPS-18 Cell Line	embryonic stem cell
47	chr1:176175000-176177000	Active TSS	Fetal Brain Female	brain
48	chr1:176175000-176177000	Active TSS	Thymus	Thymus
49	chr1:176175000-176177200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr1:176175000-176177200	Active TSS	Muscle Satellite Cultured Cells	--

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