Variant report

Variant	rs2028429
Chromosome Location	chr8:95487517-95487518
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:226)
CpG islands
(count:61)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:226 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TBP	chr8:95486850-95487802	K562	blood:	n/a	n/a
2	POLR2A	chr8:95486810-95487647	MCF-7	breast:	n/a	n/a
3	MAX	chr8:95486896-95488038	HepG2	liver:	n/a	n/a
4	ARID3A	chr8:95487375-95487878	HepG2	liver:	n/a	n/a
5	ZNF263	chr8:95486433-95487598	HEK293-T-REx	kidney:	n/a	chr8:95487129-95487138
6	KAP1	chr8:95486896-95487987	HEK293	kidney:	n/a	n/a
7	MYC	chr8:95486657-95487783	K562	blood:	n/a	n/a
8	MXI1	chr8:95485807-95488170	SK-N-SH	brain:	n/a	n/a
9	YY1	chr8:95486865-95487598	GM12892	blood:	n/a	chr8:95486948-95486962
10	STAT3	chr8:95487426-95487633	MCF10A-Er-Src	breast:	n/a	n/a
11	POLR2A	chr8:95486851-95487636	HUVEC	blood vessel:	n/a	n/a
12	MAX	chr8:95486821-95487783	HepG2	liver:	n/a	n/a
13	POLR2A	chr8:95486982-95487761	SK-N-MC	brain:	n/a	n/a
14	POLR2A	chr8:95486766-95487914	GM12878	blood:	n/a	n/a
15	E2F4	chr8:95487075-95487916	GM12878	blood:	n/a	chr8:95487353-95487362
16	MYC	chr8:95487480-95487912	H1-hESC	embryonic stem cell:	n/a	n/a
17	CHD2	chr8:95487186-95487526	HepG2	liver:	n/a	n/a
18	TEAD4	chr8:95486688-95487768	K562	blood:	n/a	n/a
19	SP1	chr8:95487069-95487588	GM12878	blood:	n/a	chr8:95487390-95487411 chr8:95487126-95487140 chr8:95487122-95487136
20	SP1	chr8:95486933-95487717	A549	lung:	n/a	chr8:95487390-95487411 chr8:95487126-95487140 chr8:95487122-95487136
21	POLR2A	chr8:95486811-95487731	PFSK-1	brain:	n/a	n/a
22	POLR2A	chr8:95486785-95487610	ECC-1	luminal epithelium:	n/a	n/a
23	NRF1	chr8:95487225-95487639	HepG2	liver:	n/a	chr8:95487354-95487363 chr8:95487352-95487363 chr8:95487349-95487363 chr8:95487352-95487366
24	POLR2A	chr8:95487011-95487560	HepG2	liver:	n/a	n/a
25	POLR2A	chr8:95486913-95487584	PANC-1	pancreas:	n/a	n/a
26	POLR2A	chr8:95486952-95487688	K562	blood:	n/a	n/a
27	TCF7L2	chr8:95487051-95487702	PANC-1	pancreas:	n/a	n/a
28	E2F6	chr8:95486933-95487714	H1-hESC	embryonic stem cell:	n/a	chr8:95487353-95487362 chr8:95487038-95487048
29	JUND	chr8:95487026-95487976	H1-hESC	embryonic stem cell:	n/a	chr8:95487399-95487408
30	POLR2A	chr8:95486937-95487586	HL-60	blood:	n/a	n/a
31	BHLHE40	chr8:95487047-95487689	HepG2	liver:	n/a	n/a
32	HEY1	chr8:95486970-95487698	HepG2	liver:	n/a	n/a
33	POLR2A	chr8:95486983-95487553	H1-neurons	neurons:	n/a	n/a
34	POLR2A	chr8:95487054-95487849	MCF10A-Er-Src	breast:	n/a	n/a
35	CBX3	chr8:95486885-95488114	K562	blood:	n/a	n/a
36	POLR2A	chr8:95487047-95487531	H1-neurons	neurons:	n/a	n/a
37	MAX	chr8:95486860-95487860	SK-N-SH	brain:	n/a	n/a
38	SIN3A	chr8:95486925-95487681	GM12878	blood:	n/a	n/a
39	POLR2A	chr8:95486862-95487640	HCT-116	colon:	n/a	n/a
40	MAX	chr8:95486899-95487918	NB4	blood:	n/a	n/a
41	IRF1	chr8:95486485-95487740	K562	blood:	n/a	n/a
42	SP1	chr8:95486852-95487775	A549	lung:	n/a	chr8:95487390-95487411 chr8:95487126-95487140 chr8:95487122-95487136
43	POLR2A	chr8:95487087-95487562	SK-N-SH	brain:	n/a	n/a
44	SIN3AK20	chr8:95486781-95487670	SK-N-SH	brain:	n/a	n/a
45	GTF2F1	chr8:95487114-95487890	H1-hESC	embryonic stem cell:	n/a	n/a
46	POLR2A	chr8:95486904-95487603	GM12892	blood:	n/a	n/a
47	POLR2A	chr8:95486837-95487566	MCF-7	breast:	n/a	n/a
48	MAX	chr8:95486814-95488049	ECC-1	luminal epithelium:	n/a	n/a
49	POLR2A	chr8:95486813-95487752	Raji	blood:	n/a	n/a
50	SETDB1	chr8:95487478-95487919	U2OS	brain:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:95487481-95487531	SK-N-SH_RA	brain:	n/a
2	chr8:95487481-95487531	HAEpiC	amniotic membrane:	n/a
3	chr8:95487481-95487531	SK-N-SH	brain:	n/a
4	chr8:95487481-95487531	SKMC	muscle:	n/a
5	chr8:95487481-95487531	NH-A	brain:	n/a
6	chr8:95487481-95487531	AG10803	skin:	n/a
7	chr8:95487481-95487531	T-47D	breast:	n/a
8	chr8:95487481-95487531	HNPCEpiC	eye:	n/a
9	chr8:95487481-95487531	GM12891	blood:	n/a
10	chr8:95487481-95487531	Hela-S3	cervix:	n/a
11	chr8:95487481-95487531	Hepatocyte	liver:	n/a
12	chr8:95487481-95487531	Jurkat	blood:	n/a
13	chr8:95487481-95487531	H1-hESC	embryonic stem cell:	embryo
14	chr8:95487481-95487531	RPTEC	kidney:	n/a
15	chr8:95487481-95487531	PrEC	prostate:	n/a
16	chr8:95487481-95487531	NB4	blood:	n/a
17	chr8:95487481-95487531	HIPEpiC	eye:	n/a
18	chr8:95487481-95487531	HCT-116	colon:	n/a
19	chr8:95487481-95487531	AG04450	lung:	fetal
20	chr8:95487481-95487531	SK-N-MC	brain:	n/a
21	chr8:95487481-95487531	HRCEpiC	kidney:	n/a
22	chr8:95487481-95487531	ECC-1	luminal epithelium:	n/a
23	chr8:95487481-95487531	SAEC	small airway:	n/a
24	chr8:95487481-95487531	NHBE	bronchial:	n/a
25	chr8:95487481-95487531	HCF	heart:	n/a
26	chr8:95487481-95487531	HEEpiC	esophagus:	n/a
27	chr8:95487481-95487531	HPAEpiC	pulmonary alveolar:	n/a
28	chr8:95487481-95487531	U87	brain:	n/a
29	chr8:95487481-95487531	AG04449	skin:	fetal
30	chr8:95487481-95487531	AoSMC	blood vessel:	n/a
31	chr8:95487481-95487531	A549	lung:	n/a
32	chr8:95487481-95487531	K562	blood:	n/a
33	chr8:95487481-95487531	GM19239	blood:	n/a
34	chr8:95487481-95487531	HepG2	liver:	n/a
35	chr8:95487481-95487531	HRPEpiC	eye:	n/a
36	chr8:95487481-95487531	NHDF-neo	bronchial:	n/a
37	chr8:95487481-95487531	MCF10A-Er-Src	breast:	n/a
38	chr8:95487481-95487531	MCF-7	breast:	n/a
39	chr8:95487481-95487531	AG09319	gingival:	n/a
40	chr8:95487481-95487531	LNCaP	prostate:	n/a
41	chr8:95487481-95487531	PFSK-1	brain:	n/a
42	chr8:95487481-95487531	CMK	blood:	n/a
43	chr8:95487481-95487531	ProgFib	skin:	n/a
44	chr8:95487481-95487531	HCM	heart:	n/a
45	chr8:95487481-95487531	Caco-2	colon:	n/a
46	chr8:95487481-95487531	GM12892	blood:	n/a
47	chr8:95487481-95487531	GM12878	blood:	n/a
48	chr8:95487481-95487531	GM06990	blood:	n/a
49	chr8:95487481-95487531	HL-60	blood:	n/a
50	chr8:95487481-95487531	HRE	kidney:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr8:95448512..95450630-chr8:95487309..95488900,2	K562	blood:
2	chr8:95485981..95488677-chr8:95730553..95733529,2	K562	blood:
3	chr8:95487095..95488801-chr8:95500645..95502573,2	MCF-7	breast:

No data

Variant related genes	Relation type
RAD54B	TF binding region
RAD54B	CpG island
ENSG00000156162	Chromatin interaction
ENSG00000265817	Chromatin interaction
ENSG00000164944	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10504937	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12541117	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12541176	1.00[ASN][1000 genomes]
rs12542622	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12542942	1.00[ASN][1000 genomes]
rs12548615	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13248829	0.82[AFR][1000 genomes]
rs16916769	1.00[ASN][1000 genomes]
rs16916798	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2046663	1.00[CHB][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];1.00[ASN][1000 genomes]
rs2381828	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs28398457	1.00[ASN][1000 genomes]
rs28595703	1.00[ASN][1000 genomes]
rs28703913	1.00[ASN][1000 genomes]
rs2890804	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3136403	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3136405	1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs3136408	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3136409	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34019009	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4734277	1.00[ASN][1000 genomes]
rs4735290	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];1.00[ASN][1000 genomes]
rs55989726	1.00[ASN][1000 genomes]
rs56272303	1.00[ASN][1000 genomes]
rs57108375	0.85[ASN][1000 genomes]
rs58866206	1.00[ASN][1000 genomes]
rs59233901	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59468162	1.00[ASN][1000 genomes]
rs60425434	1.00[ASN][1000 genomes]
rs60523486	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60654408	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60894328	1.00[ASN][1000 genomes]
rs61410835	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6991270	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6991551	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6991746	1.00[ASN][1000 genomes]
rs7001164	1.00[ASN][1000 genomes]
rs73270109	1.00[ASN][1000 genomes]
rs73270139	1.00[ASN][1000 genomes]
rs73270196	1.00[ASN][1000 genomes]
rs73271911	1.00[ASN][1000 genomes]
rs73271915	1.00[ASN][1000 genomes]
rs73271953	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73271959	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73271964	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73271995	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73695185	1.00[ASN][1000 genomes]
rs7817230	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];1.00[ASN][1000 genomes]
rs7824591	1.00[ASN][1000 genomes]
rs7829493	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7836446	1.00[ASN][1000 genomes]
rs7845278	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1017301	chr8:95273503-96248352	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv539680	chr8:95273503-96248352	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv532338	chr8:95296118-95971825	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	esv1835971	chr8:95467241-95490541	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 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	chr8:95483000-95487800	Active TSS	GM12878-XiMat	blood
2	chr8:95485200-95487800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
3	chr8:95485800-95487600	Active TSS	Rectal Mucosa Donor 29	rectum
4	chr8:95485800-95488000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr8:95485800-95488000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr8:95486000-95487800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
7	chr8:95486000-95488000	Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr8:95486000-95488000	Active TSS	H9 Cell Line	embryonic stem cell
9	chr8:95486000-95488000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr8:95486000-95488000	Active TSS	HUES6 Cell Line	embryonic stem cell
11	chr8:95486000-95488000	Active TSS	HUES64 Cell Line	embryonic stem cell
12	chr8:95486000-95488000	Active TSS	Fetal Intestine Small	intestine
13	chr8:95486000-95488000	Active TSS	HSMM	muscle
14	chr8:95486200-95487800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr8:95486200-95487800	Flanking Active TSS	Primary hematopoietic stem cells	blood
16	chr8:95486200-95487800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr8:95486200-95487800	Active TSS	Fetal Stomach	stomach
18	chr8:95486200-95487800	Active TSS	A549	lung
19	chr8:95486200-95487800	Active TSS	HepG2	liver
20	chr8:95486200-95488000	Active TSS	H1 Cell Line	embryonic stem cell
21	chr8:95486200-95488000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr8:95486200-95488000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr8:95486200-95488000	Active TSS	iPS-18 Cell Line	embryonic stem cell
24	chr8:95486200-95488000	Active TSS	Colonic Mucosa	Colon
25	chr8:95486200-95488000	Active TSS	Fetal Muscle Trunk	muscle
26	chr8:95486200-95488000	Active TSS	NHLF	lung
27	chr8:95486400-95487800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr8:95486400-95487800	Active TSS	iPS-15b Cell Line	embryonic stem cell
29	chr8:95486400-95487800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr8:95486400-95487800	Active TSS	Fetal Brain Female	brain
31	chr8:95486400-95487800	Active TSS	Fetal Intestine Large	intestine
32	chr8:95486400-95488000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr8:95486400-95488000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr8:95486400-95488000	Active TSS	HUES48 Cell Line	embryonic stem cell
35	chr8:95486400-95488000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr8:95486400-95488000	Active TSS	iPS-20b Cell Line	embryonic stem cell
37	chr8:95486400-95488000	Flanking Active TSS	Primary B cells from cord blood	blood
38	chr8:95486400-95488000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
39	chr8:95486600-95487600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr8:95486600-95487600	Active TSS	NHEK	skin
41	chr8:95486600-95487600	Active TSS	Osteobl	bone
42	chr8:95486600-95487800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr8:95486600-95487800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr8:95486600-95487800	Active TSS	Muscle Satellite Cultured Cells	--
45	chr8:95486600-95487800	Active TSS	Brain Angular Gyrus	brain
46	chr8:95486600-95487800	Active TSS	Brain Hippocampus Middle	brain
47	chr8:95486600-95487800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
48	chr8:95486600-95487800	Active TSS	Fetal Kidney	kidney
49	chr8:95486600-95487800	Active TSS	Fetal Lung	lung
50	chr8:95486600-95487800	Active TSS	Ovary	ovary

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