Variant report

Variant	rs4871359
Chromosome Location	chr8:124408350-124408351
allele	C/T
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	HDAC2	chr8:124407389-124409357	MCF-7	breast:	n/a	chr8:124409225-124409239 chr8:124408888-124408902
2	CHD2	chr8:124407714-124409264	Hela-S3	cervix:	n/a	chr8:124408000-124408010
3	CHD2	chr8:124407460-124409376	GM12878	blood:	n/a	chr8:124408000-124408010
4	REST	chr8:124408221-124409269	H1-neurons	neurons:	n/a	chr8:124408642-124408652
5	POLR2A	chr8:124407480-124409035	HepG2	liver:	n/a	n/a
6	RCOR1	chr8:124407634-124408350	HepG2	liver:	n/a	n/a
7	EP300	chr8:124408311-124409374	ECC-1	luminal epithelium:	n/a	chr8:124408709-124408725 chr8:124408334-124408343
8	POLR2A	chr8:124407248-124409174	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr8:124407798-124409309	HL-60	blood:	n/a	n/a
10	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
11	HEY1	chr8:124408035-124409272	HepG2	liver:	n/a	chr8:124408698-124408713
12	POLR2A	chr8:124407851-124408901	ECC-1	luminal epithelium:	n/a	n/a
13	POLR2A	chr8:124408310-124409261	HUVEC	blood vessel:	n/a	n/a
14	GATA3	chr8:124408217-124409532	MCF-7	breast:	n/a	n/a
15	TAF1	chr8:124407485-124409233	Hela-S3	cervix:	n/a	n/a
16	POLR2A	chr8:124407895-124409168	K562	blood:	n/a	n/a
17	SIN3AK20	chr8:124407293-124409452	MCF-7	breast:	n/a	n/a
18	PAX5	chr8:124408331-124409175	GM12878	blood:	n/a	chr8:124408909-124408927 chr8:124408718-124408727
19	RELA	chr8:124408111-124409235	GM19099	blood:	n/a	n/a
20	POLR2A	chr8:124407476-124409264	K562	blood:	n/a	n/a
21	POLR2A	chr8:124408156-124408387	A549	lung:	n/a	n/a
22	YY1	chr8:124407771-124408439	ECC-1	luminal epithelium:	n/a	chr8:124408334-124408343 chr8:124408335-124408349 chr8:124408278-124408288
23	POLR2A	chr8:124408244-124408974	ProgFib	skin:	n/a	n/a
24	MAX	chr8:124407774-124409266	Hela-S3	cervix:	n/a	chr8:124408752-124408761
25	RELA	chr8:124407506-124409173	GM15510	blood:	n/a	n/a
26	SIN3AK20	chr8:124407773-124409203	K562	blood:	n/a	n/a
27	TBP	chr8:124407468-124409303	K562	blood:	n/a	n/a
28	SP1	chr8:124408285-124409474	HCT-116	colon:	n/a	chr8:124408335-124408347 chr8:124409005-124409026
29	POU2F2	chr8:124408321-124409259	GM12878	blood:	n/a	chr8:124408752-124408764
30	HEY1	chr8:124408338-124408834	K562	blood:	n/a	chr8:124408698-124408713
31	ZBTB7A	chr8:124408295-124408749	K562	blood:	n/a	n/a
32	RFX5	chr8:124407504-124409294	Hela-S3	cervix:	n/a	chr8:124409015-124409024
33	HA-E2F1	chr8:124407792-124409406	MCF-7	breast:	n/a	chr8:124409072-124409084 chr8:124408970-124408981 chr8:124408746-124408758 chr8:124408685-124408696 chr8:124408971-124408978 chr8:124409016-124409025 chr8:124408684-124408695 chr8:124408971-124408979 chr8:124408971-124408982 chr8:124408665-124408680 chr8:124408971-124408979 chr8:124408984-124408993 chr8:124408682-124408699 chr8:124408972-124408987 chr8:124408970-124408980
34	TAF1	chr8:124408096-124408847	GM12891	blood:	n/a	n/a
35	MXI1	chr8:124407566-124409224	Hela-S3	cervix:	n/a	n/a
36	POLR2A	chr8:124407375-124409037	GM12878	blood:	n/a	n/a
37	YY1	chr8:124408226-124409123	GM12891	blood:	n/a	chr8:124408705-124408719 chr8:124408334-124408343 chr8:124408335-124408349 chr8:124408715-124408729 chr8:124409073-124409093 chr8:124408278-124408288 chr8:124408984-124408993
38	MAX	chr8:124408329-124409323	SK-N-SH	brain:	n/a	chr8:124408752-124408761
39	E2F4	chr8:124407924-124409365	Hela-S3	cervix:	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
40	CHD1	chr8:124407435-124408877	GM12878	blood:	n/a	chr8:124408000-124408010
41	ELF1	chr8:124408293-124409137	K562	blood:	n/a	n/a
42	YY1	chr8:124407818-124409160	H1-hESC	embryonic stem cell:	n/a	chr8:124408705-124408719 chr8:124408334-124408343 chr8:124408335-124408349 chr8:124408715-124408729 chr8:124409073-124409093 chr8:124408278-124408288 chr8:124408984-124408993
43	CTBP2	chr8:124407817-124409277	H1-hESC	embryonic stem cell:	n/a	n/a
44	RCOR1	chr8:124407363-124409221	Hela-S3	cervix:	n/a	n/a
45	POLR2A	chr8:124407446-124409285	GM19099	blood:	n/a	n/a
46	POLR2A	chr8:124407279-124409150	H1-hESC	embryonic stem cell:	n/a	n/a
47	TAF1	chr8:124407914-124409253	MCF-7	breast:	n/a	n/a
48	MAZ	chr8:124407395-124409244	K562	blood:	n/a	chr8:124408752-124408761
49	PAX5	chr8:124408318-124409129	GM12878	blood:	n/a	chr8:124408909-124408927 chr8:124408718-124408727
50	TAF1	chr8:124407893-124409181	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:124251434..124255040-chr8:124407167..124409699,3	MCF-7	breast:
2	chr8:124408219..124408941-chr8:124428233..124428961,2	MCF-7	breast:
3	chr15:65588298..65588826-chr8:124408129..124408693,2	Hela-S3	cervix:
4	chr8:124406056..124410111-chr8:124427174..124433258,8	MCF-7	breast:
5	chr1:153585038..153585672-chr8:124407384..124408376,2	Hela-S3	cervix:
6	chr8:124406688..124410730-chr8:124426992..124430866,9	K562	blood:
7	chr6:33266975..33267589-chr8:124407959..124408629,2	Hela-S3	cervix:
8	chr8:124406999..124409661-chr8:124439973..124442313,3	MCF-7	breast:
9	chr8:124405499..124410730-chr8:124426606..124431705,19	K562	blood:
10	chr11:85955340..85956148-chr8:124408274..124408920,2	Hela-S3	cervix:
11	chr12:58145613..58146401-chr8:124408174..124408943,2	Hela-S3	cervix:
12	chr8:124252875..124255334-chr8:124406882..124408713,2	K562	blood:
13	chr8:124404505..124411576-chr8:124423647..124430734,19	MCF-7	breast:
14	chr8:124407395..124409039-chr8:125486191..125487874,2	MCF-7	breast:
15	chr8:124283412..124288800-chr8:124404176..124410687,11	K562	blood:
16	chr17:7517649..7518260-chr8:124408209..124408876,2	Hela-S3	cervix:
17	chr8:124283826..124290020-chr8:124406062..124410538,8	MCF-7	breast:
18	chr15:73925518..73926070-chr8:124407886..124408536,2	Hela-S3	cervix:
19	chr8:124359033..124362786-chr8:124406148..124409759,5	MCF-7	breast:
20	chr8:124406625..124409750-chr8:124412518..124416367,5	K562	blood:
21	chr8:124286665..124288585-chr8:124408066..124410491,3	K562	blood:
22	chr8:124407582..124409771-chr8:125551311..125552847,2	K562	blood:
23	chr8:124358909..124361096-chr8:124406996..124408510,2	K562	blood:
24	chr12:12764483..12765192-chr8:124408129..124409047,2	Hela-S3	cervix:

Variant related genes	Relation type
IMPDH1P6	TF binding region
ENSG00000135446	Chromatin interaction
ENSG00000156795	Chromatin interaction
ENSG00000188643	Chromatin interaction
ENSG00000165156	Chromatin interaction
ENSG00000189376	Chromatin interaction
ENSG00000111269	Chromatin interaction
ENSG00000074266	Chromatin interaction
ENSG00000156802	Chromatin interaction
ENSG00000129245	Chromatin interaction
ENSG00000245149	Chromatin interaction
ENSG00000207704	Chromatin interaction
ENSG00000147687	Chromatin interaction
ENSG00000199568	Chromatin interaction
ENSG00000237441	Chromatin interaction
ENSG00000147684	Chromatin interaction
ENSG00000170881	Chromatin interaction
ENSG00000156642	Chromatin interaction
ENSG00000254294	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs28690688	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34573020	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3779982	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3779983	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56029347	0.85[EUR][1000 genomes]

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	chr8:124402400-124408600	Transcr. at gene 5' and 3'	Dnd41	blood
2	chr8:124406600-124409000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr8:124406600-124409000	Active TSS	GM12878-XiMat	blood
4	chr8:124406800-124409400	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr8:124406800-124409400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr8:124406800-124409400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr8:124407000-124409000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr8:124407000-124409000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr8:124407000-124409000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
10	chr8:124407000-124409000	Active TSS	K562	blood
11	chr8:124407000-124409200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
12	chr8:124407000-124409200	Active TSS	Fetal Heart	heart
13	chr8:124407000-124409200	Active TSS	Fetal Intestine Large	intestine
14	chr8:124407000-124409200	Active TSS	Fetal Kidney	kidney
15	chr8:124407000-124409200	Active TSS	NHDF-Ad	bronchial
16	chr8:124407000-124409400	Active TSS	H1 Cell Line	embryonic stem cell
17	chr8:124407000-124409400	Active TSS	HUES48 Cell Line	embryonic stem cell
18	chr8:124407000-124409400	Active TSS	Right Ventricle	heart
19	chr8:124407000-124409800	Active TSS	Rectal Mucosa Donor 29	rectum
20	chr8:124407200-124409000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr8:124407200-124409000	Active TSS	iPS-18 Cell Line	embryonic stem cell
22	chr8:124407200-124409200	Active TSS	Fetal Muscle Trunk	muscle
23	chr8:124407200-124409200	Active TSS	A549	lung
24	chr8:124407200-124409200	Active TSS	Hela-S3	cervix
25	chr8:124407200-124409200	Active TSS	HMEC	breast
26	chr8:124407200-124409400	Active TSS	H9 Cell Line	embryonic stem cell
27	chr8:124407200-124409400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr8:124407200-124409400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr8:124407200-124409400	Active TSS	Colonic Mucosa	Colon
30	chr8:124407200-124409400	Active TSS	Right Atrium	heart
31	chr8:124407200-124409400	Active TSS	NHLF	lung
32	chr8:124407200-124409600	Active TSS	iPS-20b Cell Line	embryonic stem cell
33	chr8:124407400-124408800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
34	chr8:124407400-124409000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr8:124407400-124409000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr8:124407400-124409000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr8:124407400-124409000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr8:124407400-124409000	Active TSS	Gastric	stomach
39	chr8:124407400-124409200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr8:124407400-124409200	Active TSS	Esophagus	oesophagus
41	chr8:124407400-124409200	Active TSS	Placenta	Placenta
42	chr8:124407400-124409200	Active TSS	Left Ventricle	heart
43	chr8:124407400-124409200	Active TSS	Lung	lung
44	chr8:124407400-124409200	Active TSS	Psoas Muscle	Psoas
45	chr8:124407400-124409200	Active TSS	Rectal Smooth Muscle	rectum
46	chr8:124407400-124409200	Active TSS	HSMMtube	muscle
47	chr8:124407400-124409400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
48	chr8:124407400-124409400	Active TSS	HUES64 Cell Line	embryonic stem cell
49	chr8:124407400-124409400	Active TSS	iPS-15b Cell Line	embryonic stem cell
50	chr8:124407400-124409400	Active TSS	Aorta	Aorta

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