Variant report

Variant	rs6993899
Chromosome Location	chr8:124409084-124409085
allele	A/C
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	SP1	chr8:124408389-124409349	A549	lung:	n/a	chr8:124409005-124409026
6	MAX	chr8:124408358-124409446	ECC-1	luminal epithelium:	n/a	chr8:124408752-124408761
7	REST	chr8:124408221-124409269	H1-neurons	neurons:	n/a	chr8:124408642-124408652
8	CBX3	chr8:124408373-124409396	HCT-116	colon:	n/a	n/a
9	EP300	chr8:124408540-124409236	K562	blood:	n/a	chr8:124408709-124408725
10	EP300	chr8:124408311-124409374	ECC-1	luminal epithelium:	n/a	chr8:124408709-124408725 chr8:124408334-124408343
11	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
12	ZNF143	chr8:124408517-124409126	Hela-S3	cervix:	n/a	chr8:124408984-124409002
13	JUN	chr8:124408596-124409125	K562	blood:	n/a	chr8:124409014-124409023
14	POLR2A	chr8:124407248-124409174	Hela-S3	cervix:	n/a	n/a
15	NFIC	chr8:124408497-124409155	HepG2	liver:	n/a	n/a
16	POLR2A	chr8:124407798-124409309	HL-60	blood:	n/a	n/a
17	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
18	MAX	chr8:124408485-124409233	HUVEC	blood vessel:	n/a	chr8:124408752-124408761
19	RFX5	chr8:124408620-124409163	K562	blood:	n/a	chr8:124409015-124409024
20	HEY1	chr8:124408035-124409272	HepG2	liver:	n/a	chr8:124408698-124408713
21	PBX3	chr8:124408366-124409262	A549	lung:	n/a	chr8:124409015-124409024
22	FOXA1	chr8:124408532-124409214	T-47D	breast:	n/a	n/a
23	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
24	POLR2A	chr8:124408310-124409261	HUVEC	blood vessel:	n/a	n/a
25	GATA3	chr8:124408217-124409532	MCF-7	breast:	n/a	n/a
26	TAF1	chr8:124407485-124409233	Hela-S3	cervix:	n/a	n/a
27	FOS	chr8:124408782-124409111	MCF10A-Er-Src	breast:	n/a	chr8:124409014-124409023
28	POLR2A	chr8:124407895-124409168	K562	blood:	n/a	n/a
29	SIN3AK20	chr8:124407293-124409452	MCF-7	breast:	n/a	n/a
30	CHD2	chr8:124408409-124409201	HepG2	liver:	n/a	n/a
31	ZNF143	chr8:124408475-124409151	GM12878	blood:	n/a	chr8:124408984-124409002
32	PAX5	chr8:124408331-124409175	GM12878	blood:	n/a	chr8:124408909-124408927 chr8:124408718-124408727
33	MAX	chr8:124408410-124409244	K562	blood:	n/a	chr8:124408752-124408761
34	TAF1	chr8:124408381-124409093	PFSK-1	brain:	n/a	n/a
35	NFIC	chr8:124408455-124409336	ECC-1	luminal epithelium:	n/a	n/a
36	RELA	chr8:124408111-124409235	GM19099	blood:	n/a	n/a
37	POLR2A	chr8:124407476-124409264	K562	blood:	n/a	n/a
38	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
39	YY1	chr8:124408493-124409137	A549	lung:	n/a	chr8:124408705-124408719 chr8:124408715-124408729 chr8:124409073-124409093 chr8:124408984-124408993
40	TEAD4	chr8:124408425-124409280	H1-hESC	embryonic stem cell:	n/a	n/a
41	MAX	chr8:124407774-124409266	Hela-S3	cervix:	n/a	chr8:124408752-124408761
42	ATF3	chr8:124408417-124409142	A549	lung:	n/a	chr8:124408720-124408729
43	POLR2A	chr8:124408395-124409117	H1-hESC	embryonic stem cell:	n/a	n/a
44	E2F6	chr8:124408581-124409243	K562	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 chr8:124409071-124409082 chr8:124408972-124408987 chr8:124408970-124408980
45	EP300	chr8:124408515-124409247	GM12878	blood:	n/a	chr8:124408709-124408725
46	RELA	chr8:124407506-124409173	GM15510	blood:	n/a	n/a
47	CUX1	chr8:124409082-124409256	K562	blood:	n/a	n/a
48	SIX5	chr8:124408439-124409426	A549	lung:	n/a	n/a
49	SIN3AK20	chr8:124407773-124409203	K562	blood:	n/a	n/a
50	TBP	chr8:124407468-124409303	K562	blood:	n/a	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	chr8:124406056..124410111-chr8:124427174..124433258,8	MCF-7	breast:
4	chr8:124406688..124410730-chr8:124426992..124430866,9	K562	blood:
5	chr8:124406999..124409661-chr8:124439973..124442313,3	MCF-7	breast:
6	chr8:124405499..124410730-chr8:124426606..124431705,19	K562	blood:
7	chr8:124404505..124411576-chr8:124423647..124430734,19	MCF-7	breast:
8	chr8:124283412..124288800-chr8:124404176..124410687,11	K562	blood:
9	chr8:124283826..124290020-chr8:124406062..124410538,8	MCF-7	breast:
10	chr8:124359033..124362786-chr8:124406148..124409759,5	MCF-7	breast:
11	chr8:124406625..124409750-chr8:124412518..124416367,5	K562	blood:
12	chr8:124286665..124288585-chr8:124408066..124410491,3	K562	blood:
13	chr8:124407582..124409771-chr8:125551311..125552847,2	K562	blood:

Variant related genes	Relation type
IMPDH1P6	TF binding region
ATAD2	TF binding region
ENSG00000147687	Chromatin interaction
ENSG00000156795	Chromatin interaction
ENSG00000156802	Chromatin interaction
ENSG00000147684	Chromatin interaction
ENSG00000189376	Chromatin interaction
ENSG00000254294	Chromatin interaction
ENSG00000207704	Chromatin interaction
ENSG00000165156	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs16898248	1.00[MEX][hapmap]
rs16898381	1.00[MEX][hapmap]
rs73323704	1.00[AMR][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:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124406800-124409400	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr8:124406800-124409400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr8:124406800-124409400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr8:124407000-124409200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
5	chr8:124407000-124409200	Active TSS	Fetal Heart	heart
6	chr8:124407000-124409200	Active TSS	Fetal Intestine Large	intestine
7	chr8:124407000-124409200	Active TSS	Fetal Kidney	kidney
8	chr8:124407000-124409200	Active TSS	NHDF-Ad	bronchial
9	chr8:124407000-124409400	Active TSS	H1 Cell Line	embryonic stem cell
10	chr8:124407000-124409400	Active TSS	HUES48 Cell Line	embryonic stem cell
11	chr8:124407000-124409400	Active TSS	Right Ventricle	heart
12	chr8:124407000-124409800	Active TSS	Rectal Mucosa Donor 29	rectum
13	chr8:124407200-124409200	Active TSS	Fetal Muscle Trunk	muscle
14	chr8:124407200-124409200	Active TSS	A549	lung
15	chr8:124407200-124409200	Active TSS	Hela-S3	cervix
16	chr8:124407200-124409200	Active TSS	HMEC	breast
17	chr8:124407200-124409400	Active TSS	H9 Cell Line	embryonic stem cell
18	chr8:124407200-124409400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr8:124407200-124409400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr8:124407200-124409400	Active TSS	Colonic Mucosa	Colon
21	chr8:124407200-124409400	Active TSS	Right Atrium	heart
22	chr8:124407200-124409400	Active TSS	NHLF	lung
23	chr8:124407200-124409600	Active TSS	iPS-20b Cell Line	embryonic stem cell
24	chr8:124407400-124409200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr8:124407400-124409200	Active TSS	Esophagus	oesophagus
26	chr8:124407400-124409200	Active TSS	Placenta	Placenta
27	chr8:124407400-124409200	Active TSS	Left Ventricle	heart
28	chr8:124407400-124409200	Active TSS	Lung	lung
29	chr8:124407400-124409200	Active TSS	Psoas Muscle	Psoas
30	chr8:124407400-124409200	Active TSS	Rectal Smooth Muscle	rectum
31	chr8:124407400-124409200	Active TSS	HSMMtube	muscle
32	chr8:124407400-124409400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
33	chr8:124407400-124409400	Active TSS	HUES64 Cell Line	embryonic stem cell
34	chr8:124407400-124409400	Active TSS	iPS-15b Cell Line	embryonic stem cell
35	chr8:124407400-124409400	Active TSS	Aorta	Aorta
36	chr8:124407400-124409400	Active TSS	Fetal Brain Female	brain
37	chr8:124407400-124409400	Active TSS	Pancreatic Islets	Pancreatic Islet
38	chr8:124407400-124409400	Active TSS	Fetal Stomach	stomach
39	chr8:124407400-124409400	Active TSS	Ovary	ovary
40	chr8:124407400-124409400	Active TSS	NH-A	brain
41	chr8:124407600-124409200	Active TSS	HUES6 Cell Line	embryonic stem cell
42	chr8:124407600-124409200	Active TSS	Primary B cells from peripheral blood	blood
43	chr8:124407600-124409200	Active TSS	Primary T cells fromperipheralblood	blood
44	chr8:124407600-124409200	Active TSS	Primary hematopoietic stem cells	blood
45	chr8:124407600-124409200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
46	chr8:124407600-124409200	Active TSS	Primary T helper naive cells from peripheral blood	blood
47	chr8:124407600-124409200	Active TSS	Primary T helper cells PMA-I stimulated	--
48	chr8:124407600-124409200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
49	chr8:124407600-124409200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr8:124407600-124409200	Active TSS	Cortex derived primary cultured neurospheres	brain

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