Variant report

Variant	rs73695619
Chromosome Location	chr8:95487376-95487377
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:278)
CpG islands
(count:183)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:278 , 50 per page) page: 1 2 3 4 5 6

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	UBTF	chr8:95486751-95487436	K562	blood:	n/a	n/a
3	POLR2A	chr8:95486810-95487647	MCF-7	breast:	n/a	n/a
4	MAX	chr8:95486896-95488038	HepG2	liver:	n/a	n/a
5	ARID3A	chr8:95487375-95487878	HepG2	liver:	n/a	n/a
6	POLR2A	chr8:95487056-95487388	IMR90	lung:	n/a	n/a
7	ZNF263	chr8:95486433-95487598	HEK293-T-REx	kidney:	n/a	chr8:95487129-95487138
8	KAP1	chr8:95486896-95487987	HEK293	kidney:	n/a	n/a
9	MYC	chr8:95486657-95487783	K562	blood:	n/a	n/a
10	MXI1	chr8:95485807-95488170	SK-N-SH	brain:	n/a	n/a
11	YY1	chr8:95486865-95487598	GM12892	blood:	n/a	chr8:95486948-95486962
12	POLR2A	chr8:95486851-95487636	HUVEC	blood vessel:	n/a	n/a
13	MAX	chr8:95486821-95487783	HepG2	liver:	n/a	n/a
14	POLR2A	chr8:95486982-95487761	SK-N-MC	brain:	n/a	n/a
15	POLR2A	chr8:95486766-95487914	GM12878	blood:	n/a	n/a
16	E2F4	chr8:95487075-95487916	GM12878	blood:	n/a	chr8:95487353-95487362
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	CTCF	chr8:95486778-95487395	K562	blood:	n/a	chr8:95487207-95487225 chr8:95486952-95486965
24	NRF1	chr8:95487225-95487639	HepG2	liver:	n/a	chr8:95487354-95487363 chr8:95487352-95487363 chr8:95487349-95487363 chr8:95487352-95487366
25	POLR2A	chr8:95487011-95487560	HepG2	liver:	n/a	n/a
26	POLR2A	chr8:95486767-95487460	Hela-S3	cervix:	n/a	n/a
27	POLR2A	chr8:95486747-95487505	K562	blood:	n/a	n/a
28	TAF1	chr8:95486987-95487430	SK-N-SH	brain:	n/a	n/a
29	POLR2A	chr8:95487028-95487474	A549	lung:	n/a	n/a
30	POLR2A	chr8:95486913-95487584	PANC-1	pancreas:	n/a	n/a
31	POLR2A	chr8:95486952-95487688	K562	blood:	n/a	n/a
32	RUNX3	chr8:95486758-95487445	GM12878	blood:	n/a	n/a
33	RCOR1	chr8:95486988-95487484	K562	blood:	n/a	n/a
34	ZNF143	chr8:95487098-95487516	H1-hESC	embryonic stem cell:	n/a	n/a
35	PML	chr8:95486598-95487513	K562	blood:	n/a	n/a
36	POLR2A	chr8:95487028-95487450	GM12892	blood:	n/a	n/a
37	TCF7L2	chr8:95487051-95487702	PANC-1	pancreas:	n/a	n/a
38	E2F6	chr8:95486933-95487714	H1-hESC	embryonic stem cell:	n/a	chr8:95487353-95487362 chr8:95487038-95487048
39	JUND	chr8:95487026-95487976	H1-hESC	embryonic stem cell:	n/a	chr8:95487399-95487408
40	POLR2A	chr8:95486937-95487586	HL-60	blood:	n/a	n/a
41	BHLHE40	chr8:95487047-95487689	HepG2	liver:	n/a	n/a
42	HEY1	chr8:95486970-95487698	HepG2	liver:	n/a	n/a
43	MYC	chr8:95487327-95487486	HUVEC	blood vessel:	n/a	n/a
44	POLR2A	chr8:95486983-95487553	H1-neurons	neurons:	n/a	n/a
45	POLR2A	chr8:95487054-95487849	MCF10A-Er-Src	breast:	n/a	n/a
46	CBX3	chr8:95486885-95488114	K562	blood:	n/a	n/a
47	POLR2A	chr8:95487047-95487531	H1-neurons	neurons:	n/a	n/a
48	POLR2A	chr8:95487007-95487462	GM12878	blood:	n/a	n/a
49	RAD21	chr8:95487060-95487421	H1-hESC	embryonic stem cell:	n/a	n/a
50	MAX	chr8:95486860-95487860	SK-N-SH	brain:	n/a	n/a

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:95487349-95487399	MCF-7	breast:	n/a
2	chr8:95487352-95487402	RPTEC	kidney:	n/a
3	chr8:95487349-95487399	AG09319	gingival:	n/a
4	chr8:95487352-95487402	AG10803	skin:	n/a
5	chr8:95487352-95487402	HCM	heart:	n/a
6	chr8:95487352-95487402	GM12891	blood:	n/a
7	chr8:95487360-95487410	AG10803	skin:	n/a
8	chr8:95487349-95487399	HCT-116	colon:	n/a
9	chr8:95487352-95487402	MCF-7	breast:	n/a
10	chr8:95487349-95487399	T-47D	breast:	n/a
11	chr8:95487352-95487402	HRPEpiC	eye:	n/a
12	chr8:95487352-95487402	AoSMC	blood vessel:	n/a
13	chr8:95487352-95487402	PFSK-1	brain:	n/a
14	chr8:95487349-95487399	HCM	heart:	n/a
15	chr8:95487360-95487410	GM06990	blood:	n/a
16	chr8:95487360-95487410	AG04449	skin:	fetal
17	chr8:95487360-95487410	ProgFib	skin:	n/a
18	chr8:95487352-95487402	CMK	blood:	n/a
19	chr8:95487349-95487399	HEEpiC	esophagus:	n/a
20	chr8:95487349-95487399	BE2_C	brain:	n/a
21	chr8:95487352-95487402	HIPEpiC	eye:	n/a
22	chr8:95487352-95487402	HCPEpiC	choroid plexus:	n/a
23	chr8:95487360-95487410	HRE	kidney:	n/a
24	chr8:95487349-95487399	HMEC	breast:	n/a
25	chr8:95487360-95487410	HRPEpiC	eye:	n/a
26	chr8:95487349-95487399	SKMC	muscle:	n/a
27	chr8:95487349-95487399	HUVEC	blood vessel:	n/a
28	chr8:95487352-95487402	PANC-1	pancreas:	n/a
29	chr8:95487360-95487410	A549	lung:	n/a
30	chr8:95487352-95487402	HRCEpiC	kidney:	n/a
31	chr8:95487352-95487402	A549	lung:	n/a
32	chr8:95487360-95487410	BJ	skin:	n/a
33	chr8:95487352-95487402	GM06990	blood:	n/a
34	chr8:95487360-95487410	NHDF-neo	bronchial:	n/a
35	chr8:95487352-95487402	SAEC	small airway:	n/a
36	chr8:95487349-95487399	NH-A	brain:	n/a
37	chr8:95487349-95487399	AG09309	skin:	n/a
38	chr8:95487352-95487402	Jurkat	blood:	n/a
39	chr8:95487349-95487399	IMR90	lung:	fetal
40	chr8:95487360-95487410	HPAEpiC	pulmonary alveolar:	n/a
41	chr8:95487360-95487410	U87	brain:	n/a
42	chr8:95487352-95487402	HAEpiC	amniotic membrane:	n/a
43	chr8:95487349-95487399	HRE	kidney:	n/a
44	chr8:95487360-95487410	PANC-1	pancreas:	n/a
45	chr8:95487349-95487399	GM19239	blood:	n/a
46	chr8:95487360-95487410	HIPEpiC	eye:	n/a
47	chr8:95487360-95487410	HRCEpiC	kidney:	n/a
48	chr8:95487360-95487410	AG09319	gingival:	n/a
49	chr8:95487360-95487410	PFSK-1	brain:	n/a
50	chr8:95487352-95487402	SK-N-MC	brain:	n/a

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:95485646..95487396-chr8:95731182..95733187,2	MCF-7	breast:
2	chr8:95448512..95450630-chr8:95487309..95488900,2	K562	blood:
3	chr8:95485981..95488677-chr8:95730553..95733529,2	K562	blood:
4	chr8:95487095..95488801-chr8:95500645..95502573,2	MCF-7	breast:

No data

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

Extended variants
information (count: 85 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:81)

rs_ID	r²[population]
rs10086307	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10086311	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10087221	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10089982	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10090029	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10090628	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10093542	1.00[EUR][1000 genomes]
rs10094155	0.96[EUR][1000 genomes]
rs10094298	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10094477	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10095474	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10095883	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10097107	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10098298	1.00[EUR][1000 genomes]
rs10098682	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10102139	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10103436	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10104301	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10104797	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10105476	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10106455	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10110389	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10111251	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10217108	0.92[EUR][1000 genomes]
rs10441536	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10441537	0.92[EUR][1000 genomes]
rs1055798	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12334369	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12334578	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12334783	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12334844	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12334990	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12335104	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13438933	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13438940	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13439154	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13439558	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13439676	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2119461	0.96[EUR][1000 genomes]
rs2381883	0.96[EUR][1000 genomes]
rs28386976	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28397924	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28406352	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs28409018	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs28420254	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28436849	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs28449797	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs28475734	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs28480604	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs28481457	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs28498495	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs28502182	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs28524089	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs28526027	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs28539788	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs28542193	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28563951	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs28564036	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs28572173	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28608052	1.00[EUR][1000 genomes]
rs28634264	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs28666401	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs28681034	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28775004	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs28805925	0.96[EUR][1000 genomes]
rs28829590	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs28848914	0.92[EUR][1000 genomes]
rs3136421	1.00[EUR][1000 genomes]
rs4567002	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56859277	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57897120	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6992902	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6998829	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73695616	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73695617	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73695620	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73695622	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73695624	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73698013	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8117	0.96[EUR][1000 genomes]
rs9297938	0.93[AMR][1000 genomes];1.00[EUR][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	chr8:95486200-95487400	Active TSS	K562	blood
15	chr8:95486200-95487800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr8:95486200-95487800	Flanking Active TSS	Primary hematopoietic stem cells	blood
17	chr8:95486200-95487800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr8:95486200-95487800	Active TSS	Fetal Stomach	stomach
19	chr8:95486200-95487800	Active TSS	A549	lung
20	chr8:95486200-95487800	Active TSS	HepG2	liver
21	chr8:95486200-95488000	Active TSS	H1 Cell Line	embryonic stem cell
22	chr8:95486200-95488000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr8:95486200-95488000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr8:95486200-95488000	Active TSS	iPS-18 Cell Line	embryonic stem cell
25	chr8:95486200-95488000	Active TSS	Colonic Mucosa	Colon
26	chr8:95486200-95488000	Active TSS	Fetal Muscle Trunk	muscle
27	chr8:95486200-95488000	Active TSS	NHLF	lung
28	chr8:95486400-95487800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr8:95486400-95487800	Active TSS	iPS-15b Cell Line	embryonic stem cell
30	chr8:95486400-95487800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr8:95486400-95487800	Active TSS	Fetal Brain Female	brain
32	chr8:95486400-95487800	Active TSS	Fetal Intestine Large	intestine
33	chr8:95486400-95488000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr8:95486400-95488000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr8:95486400-95488000	Active TSS	HUES48 Cell Line	embryonic stem cell
36	chr8:95486400-95488000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr8:95486400-95488000	Active TSS	iPS-20b Cell Line	embryonic stem cell
38	chr8:95486400-95488000	Flanking Active TSS	Primary B cells from cord blood	blood
39	chr8:95486400-95488000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
40	chr8:95486600-95487400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
41	chr8:95486600-95487400	Active TSS	Primary hematopoietic stem cells short term culture	blood
42	chr8:95486600-95487400	Active TSS	Hela-S3	cervix
43	chr8:95486600-95487600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr8:95486600-95487600	Active TSS	NHEK	skin
45	chr8:95486600-95487600	Active TSS	Osteobl	bone
46	chr8:95486600-95487800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr8:95486600-95487800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr8:95486600-95487800	Active TSS	Muscle Satellite Cultured Cells	--
49	chr8:95486600-95487800	Active TSS	Brain Angular Gyrus	brain
50	chr8:95486600-95487800	Active TSS	Brain Hippocampus Middle	brain

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