Variant report

Variant	rs4870849
Chromosome Location	chr8:124408768-124408769
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	GTF2F1	chr8:124408472-124409208	H1-hESC	embryonic stem cell:	n/a	n/a
2	HDAC2	chr8:124407389-124409357	MCF-7	breast:	n/a	chr8:124409225-124409239 chr8:124408888-124408902
3	CHD2	chr8:124407714-124409264	Hela-S3	cervix:	n/a	chr8:124408000-124408010
4	CHD2	chr8:124407460-124409376	GM12878	blood:	n/a	chr8:124408000-124408010
5	POLR2A	chr8:124408470-124408783	SK-N-SH	brain:	n/a	n/a
6	JUND	chr8:124408516-124408786	H1-hESC	embryonic stem cell:	n/a	n/a
7	SP1	chr8:124408389-124409349	A549	lung:	n/a	chr8:124409005-124409026
8	MAX	chr8:124408358-124409446	ECC-1	luminal epithelium:	n/a	chr8:124408752-124408761
9	REST	chr8:124408221-124409269	H1-neurons	neurons:	n/a	chr8:124408642-124408652
10	POLR2A	chr8:124407480-124409035	HepG2	liver:	n/a	n/a
11	CBX3	chr8:124408373-124409396	HCT-116	colon:	n/a	n/a
12	EP300	chr8:124408540-124409236	K562	blood:	n/a	chr8:124408709-124408725
13	POU2F2	chr8:124408359-124408863	GM12891	blood:	n/a	chr8:124408752-124408764
14	EP300	chr8:124408311-124409374	ECC-1	luminal epithelium:	n/a	chr8:124408709-124408725 chr8:124408334-124408343
15	KAP1	chr8:124408654-124408976	U2OS	brain:	n/a	n/a
16	EGR1	chr8:124408540-124409091	GM12878	blood:	n/a	chr8:124408750-124408763 chr8:124408751-124408762 chr8:124408812-124408822 chr8:124408718-124408727 chr8:124408749-124408764 chr8:124408750-124408763 chr8:124408750-124408763 chr8:124408984-124408994 chr8:124408751-124408761 chr8:124408750-124408763 chr8:124408749-124408763 chr8:124408618-124408627 chr8:124408751-124408761 chr8:124408748-124408758 chr8:124408751-124408760 chr8:124408751-124408762
17	ZNF143	chr8:124408517-124409126	Hela-S3	cervix:	n/a	chr8:124408984-124409002
18	PBX3	chr8:124408593-124409053	GM12878	blood:	n/a	chr8:124409015-124409024
19	JUN	chr8:124408596-124409125	K562	blood:	n/a	chr8:124409014-124409023
20	POLR2A	chr8:124407248-124409174	Hela-S3	cervix:	n/a	n/a
21	NFIC	chr8:124408497-124409155	HepG2	liver:	n/a	n/a
22	POLR2A	chr8:124407798-124409309	HL-60	blood:	n/a	n/a
23	YY1	chr8:124407787-124409231	GM12892	blood:	n/a	chr8:124408705-124408719 chr8:124408334-124408343 chr8:124408335-124408349 chr8:124408715-124408729 chr8:124409073-124409093 chr8:124408278-124408288 chr8:124408984-124408993
24	MAX	chr8:124408485-124409233	HUVEC	blood vessel:	n/a	chr8:124408752-124408761
25	POLR2A	chr8:124408423-124408885	HUVEC	blood vessel:	n/a	n/a
26	RFX5	chr8:124408620-124409163	K562	blood:	n/a	chr8:124409015-124409024
27	HEY1	chr8:124408035-124409272	HepG2	liver:	n/a	chr8:124408698-124408713
28	SMC3	chr8:124408729-124409078	K562	blood:	n/a	n/a
29	POLR2A	chr8:124407851-124408901	ECC-1	luminal epithelium:	n/a	n/a
30	PBX3	chr8:124408366-124409262	A549	lung:	n/a	chr8:124409015-124409024
31	FOXA1	chr8:124408532-124409214	T-47D	breast:	n/a	n/a
32	E2F4	chr8:124408488-124409279	GM12878	blood:	n/a	chr8:124409072-124409084 chr8:124408970-124408981 chr8:124408746-124408758 chr8:124408685-124408696 chr8:124408971-124408978 chr8:124409016-124409025 chr8:124408971-124408979 chr8:124408971-124408982 chr8:124408665-124408680 chr8:124408971-124408979 chr8:124408970-124408978 chr8:124408984-124408993 chr8:124408682-124408699 chr8:124408972-124408987 chr8:124408970-124408980
33	POLR2A	chr8:124408310-124409261	HUVEC	blood vessel:	n/a	n/a
34	GATA3	chr8:124408217-124409532	MCF-7	breast:	n/a	n/a
35	TAF1	chr8:124407485-124409233	Hela-S3	cervix:	n/a	n/a
36	SIN3AK20	chr8:124408561-124408988	SK-N-SH	brain:	n/a	n/a
37	POLR2A	chr8:124407895-124409168	K562	blood:	n/a	n/a
38	SIN3AK20	chr8:124407293-124409452	MCF-7	breast:	n/a	n/a
39	CHD2	chr8:124408409-124409201	HepG2	liver:	n/a	n/a
40	ZNF143	chr8:124408475-124409151	GM12878	blood:	n/a	chr8:124408984-124409002
41	PAX5	chr8:124408331-124409175	GM12878	blood:	n/a	chr8:124408909-124408927 chr8:124408718-124408727
42	MAX	chr8:124408410-124409244	K562	blood:	n/a	chr8:124408752-124408761
43	TAF1	chr8:124408381-124409093	PFSK-1	brain:	n/a	n/a
44	NFIC	chr8:124408455-124409336	ECC-1	luminal epithelium:	n/a	n/a
45	RELA	chr8:124408111-124409235	GM19099	blood:	n/a	n/a
46	POLR2A	chr8:124407476-124409264	K562	blood:	n/a	n/a
47	NFYB	chr8:124408573-124409348	K562	blood:	n/a	chr8:124409014-124409027 chr8:124409013-124409027 chr8:124409012-124409027 chr8:124409016-124409028 chr8:124409015-124409025 chr8:124409014-124409029 chr8:124409012-124409027
48	YY1	chr8:124408493-124409137	A549	lung:	n/a	chr8:124408705-124408719 chr8:124408715-124408729 chr8:124409073-124409093 chr8:124408984-124408993
49	TEAD4	chr8:124408425-124409280	H1-hESC	embryonic stem cell:	n/a	n/a
50	BRCA1	chr8:124408636-124409045	HepG2	liver:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:124408743-124408793	LNCaP	prostate:	n/a
2	chr8:124408721-124408771	HCM	heart:	n/a
3	chr8:124408743-124408793	Jurkat	blood:	n/a
4	chr8:124408743-124408793	HepG2	liver:	n/a
5	chr8:124408721-124408771	T-47D	breast:	n/a
6	chr8:124408743-124408793	BJ	skin:	n/a
7	chr8:124408743-124408793	IMR90	lung:	fetal
8	chr8:124408721-124408771	AG09319	gingival:	n/a
9	chr8:124408743-124408793	HRPEpiC	eye:	n/a
10	chr8:124408721-124408771	SKMC	muscle:	n/a
11	chr8:124408721-124408771	MCF-7	breast:	n/a
12	chr8:124408743-124408793	AG09319	gingival:	n/a
13	chr8:124408721-124408771	HRE	kidney:	n/a
14	chr8:124408743-124408793	SK-N-SH_RA	brain:	n/a
15	chr8:124408721-124408771	U87	brain:	n/a
16	chr8:124408743-124408793	A549	lung:	n/a
17	chr8:124408721-124408771	Hela-S3	cervix:	n/a
18	chr8:124408721-124408771	CMK	blood:	n/a
19	chr8:124408721-124408771	GM19239	blood:	n/a
20	chr8:124408743-124408793	HRCEpiC	kidney:	n/a
21	chr8:124408721-124408771	RPTEC	kidney:	n/a
22	chr8:124408721-124408771	BE2_C	brain:	n/a
23	chr8:124408743-124408793	HL-60	blood:	n/a
24	chr8:124408721-124408771	HRPEpiC	eye:	n/a
25	chr8:124408721-124408771	HCT-116	colon:	n/a
26	chr8:124408721-124408771	HIPEpiC	eye:	n/a
27	chr8:124408743-124408793	AG10803	skin:	n/a
28	chr8:124408743-124408793	AoSMC	blood vessel:	n/a
29	chr8:124408721-124408771	SK-N-SH_RA	brain:	n/a
30	chr8:124408743-124408793	HMEC	breast:	n/a
31	chr8:124408721-124408771	IMR90	lung:	fetal
32	chr8:124408721-124408771	MCF10A-Er-Src	breast:	n/a
33	chr8:124408743-124408793	HCM	heart:	n/a
34	chr8:124408743-124408793	HUVEC	blood vessel:	n/a
35	chr8:124408743-124408793	SK-N-MC	brain:	n/a
36	chr8:124408721-124408771	HMEC	breast:	n/a
37	chr8:124408721-124408771	AG04449	skin:	fetal
38	chr8:124408721-124408771	PANC-1	pancreas:	n/a
39	chr8:124408721-124408771	NHBE	bronchial:	n/a
40	chr8:124408721-124408771	A549	lung:	n/a
41	chr8:124408743-124408793	GM12891	blood:	n/a
42	chr8:124408743-124408793	ECC-1	luminal epithelium:	n/a
43	chr8:124408743-124408793	NHDF-neo	bronchial:	n/a
44	chr8:124408743-124408793	NB4	blood:	n/a
45	chr8:124408743-124408793	Caco-2	colon:	n/a
46	chr8:124408743-124408793	PFSK-1	brain:	n/a
47	chr8:124408721-124408771	NH-A	brain:	n/a
48	chr8:124408743-124408793	K562	blood:	n/a
49	chr8:124408721-124408771	HCPEpiC	choroid plexus:	n/a
50	chr8:124408721-124408771	HL-60	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:124251434..124255040-chr8:124407167..124409699,3	MCF-7	breast:
2	chr8:124408566..124410301-chr8:124410632..124412919,2	MCF-7	breast:
3	chr8:124408219..124408941-chr8:124428233..124428961,2	MCF-7	breast:
4	chr8:124406056..124410111-chr8:124427174..124433258,8	MCF-7	breast:
5	chr8:124406688..124410730-chr8:124426992..124430866,9	K562	blood:
6	chr8:124406999..124409661-chr8:124439973..124442313,3	MCF-7	breast:
7	chr8:124405499..124410730-chr8:124426606..124431705,19	K562	blood:
8	chr11:85955340..85956148-chr8:124408274..124408920,2	Hela-S3	cervix:
9	chr12:58145613..58146401-chr8:124408174..124408943,2	Hela-S3	cervix:
10	chr8:124404505..124411576-chr8:124423647..124430734,19	MCF-7	breast:
11	chr8:124407395..124409039-chr8:125486191..125487874,2	MCF-7	breast:
12	chr8:124283412..124288800-chr8:124404176..124410687,11	K562	blood:
13	chr17:7517649..7518260-chr8:124408209..124408876,2	Hela-S3	cervix:
14	chr8:124283826..124290020-chr8:124406062..124410538,8	MCF-7	breast:
15	chr8:124359033..124362786-chr8:124406148..124409759,5	MCF-7	breast:
16	chr8:124406625..124409750-chr8:124412518..124416367,5	K562	blood:
17	chr8:124286665..124288585-chr8:124408066..124410491,3	K562	blood:
18	chr8:124407582..124409771-chr8:125551311..125552847,2	K562	blood:
19	chr12:12764483..12765192-chr8:124408129..124409047,2	Hela-S3	cervix:

Variant related genes	Relation type
ATAD2	TF binding region
IMPDH1P6	TF binding region
ATAD2	CpG island
IMPDH1P6	CpG island
ENSG00000189376	Chromatin interaction
ENSG00000129245	Chromatin interaction
ENSG00000135446	Chromatin interaction
ENSG00000165156	Chromatin interaction
ENSG00000245149	Chromatin interaction
ENSG00000074266	Chromatin interaction
ENSG00000147684	Chromatin interaction
ENSG00000111269	Chromatin interaction
ENSG00000156802	Chromatin interaction
ENSG00000254294	Chromatin interaction
ENSG00000156795	Chromatin interaction
ENSG00000147687	Chromatin interaction
ENSG00000170881	Chromatin interaction
ENSG00000207704	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11775312	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs2891717	1.00[GIH][hapmap]
rs3857956	1.00[GIH][hapmap]
rs3912357	1.00[CEU][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831449	chr8:124276685-124471740	Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 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	chr8:124406600-124409000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr8:124406600-124409000	Active TSS	GM12878-XiMat	blood
3	chr8:124406800-124409400	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr8:124406800-124409400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr8:124406800-124409400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr8:124407000-124409000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr8:124407000-124409000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr8:124407000-124409000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
9	chr8:124407000-124409000	Active TSS	K562	blood
10	chr8:124407000-124409200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
11	chr8:124407000-124409200	Active TSS	Fetal Heart	heart
12	chr8:124407000-124409200	Active TSS	Fetal Intestine Large	intestine
13	chr8:124407000-124409200	Active TSS	Fetal Kidney	kidney
14	chr8:124407000-124409200	Active TSS	NHDF-Ad	bronchial
15	chr8:124407000-124409400	Active TSS	H1 Cell Line	embryonic stem cell
16	chr8:124407000-124409400	Active TSS	HUES48 Cell Line	embryonic stem cell
17	chr8:124407000-124409400	Active TSS	Right Ventricle	heart
18	chr8:124407000-124409800	Active TSS	Rectal Mucosa Donor 29	rectum
19	chr8:124407200-124409000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr8:124407200-124409000	Active TSS	iPS-18 Cell Line	embryonic stem cell
21	chr8:124407200-124409200	Active TSS	Fetal Muscle Trunk	muscle
22	chr8:124407200-124409200	Active TSS	A549	lung
23	chr8:124407200-124409200	Active TSS	Hela-S3	cervix
24	chr8:124407200-124409200	Active TSS	HMEC	breast
25	chr8:124407200-124409400	Active TSS	H9 Cell Line	embryonic stem cell
26	chr8:124407200-124409400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr8:124407200-124409400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr8:124407200-124409400	Active TSS	Colonic Mucosa	Colon
29	chr8:124407200-124409400	Active TSS	Right Atrium	heart
30	chr8:124407200-124409400	Active TSS	NHLF	lung
31	chr8:124407200-124409600	Active TSS	iPS-20b Cell Line	embryonic stem cell
32	chr8:124407400-124408800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
33	chr8:124407400-124409000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr8:124407400-124409000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr8:124407400-124409000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr8:124407400-124409000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr8:124407400-124409000	Active TSS	Gastric	stomach
38	chr8:124407400-124409200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr8:124407400-124409200	Active TSS	Esophagus	oesophagus
40	chr8:124407400-124409200	Active TSS	Placenta	Placenta
41	chr8:124407400-124409200	Active TSS	Left Ventricle	heart
42	chr8:124407400-124409200	Active TSS	Lung	lung
43	chr8:124407400-124409200	Active TSS	Psoas Muscle	Psoas
44	chr8:124407400-124409200	Active TSS	Rectal Smooth Muscle	rectum
45	chr8:124407400-124409200	Active TSS	HSMMtube	muscle
46	chr8:124407400-124409400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
47	chr8:124407400-124409400	Active TSS	HUES64 Cell Line	embryonic stem cell
48	chr8:124407400-124409400	Active TSS	iPS-15b Cell Line	embryonic stem cell
49	chr8:124407400-124409400	Active TSS	Aorta	Aorta
50	chr8:124407400-124409400	Active TSS	Fetal Brain Female	brain

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