Variant report

Variant	rs6854010
Chromosome Location	chr4:79521428-79521429
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:57)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:57 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr4:79521027-79521528	K562	blood:	n/a	n/a
2	GATA2	chr4:79520932-79521472	K562	blood:	n/a	n/a
3	MXI1	chr4:79521057-79521650	K562	blood:	n/a	n/a
4	STAT5A	chr4:79520919-79521554	K562	blood:	n/a	n/a
5	HDAC2	chr4:79521068-79521475	K562	blood:	n/a	n/a
6	UBTF	chr4:79521087-79521439	K562	blood:	n/a	n/a
7	BHLHE40	chr4:79520998-79521465	K562	blood:	n/a	n/a
8	JUND	chr4:79520983-79521556	K562	blood:	n/a	n/a
9	TBL1XR1	chr4:79521022-79521636	K562	blood:	n/a	n/a
10	ZNF143	chr4:79521062-79521438	K562	blood:	n/a	n/a
11	HMGN3	chr4:79521081-79521472	K562	blood:	n/a	n/a
12	MAX	chr4:79521000-79521671	K562	blood:	n/a	n/a
13	NR2F2	chr4:79520952-79521487	K562	blood:	n/a	n/a
14	GATA2	chr4:79520889-79521532	K562	blood:	n/a	n/a
15	NR2F2	chr4:79520852-79521655	K562	blood:	n/a	n/a
16	EP300	chr4:79520822-79521638	K562	blood:	n/a	n/a
17	POLR2A	chr4:79521038-79521476	K562	blood:	n/a	n/a
18	MYC	chr4:79521000-79521450	K562	blood:	n/a	n/a
19	CCNT2	chr4:79521048-79521544	K562	blood:	n/a	chr4:79521418-79521438
20	TAL1	chr4:79521000-79521595	K562	blood:	n/a	chr4:79521418-79521436
21	PML	chr4:79520875-79521581	K562	blood:	n/a	n/a
22	GATA2	chr4:79521024-79521498	K562	blood:	n/a	n/a
23	EGR1	chr4:79521038-79521606	K562	blood:	n/a	n/a
24	MYC	chr4:79521021-79521552	K562	blood:	n/a	n/a
25	ARID3A	chr4:79521022-79521826	K562	blood:	n/a	n/a
26	TEAD4	chr4:79520842-79521690	K562	blood:	n/a	n/a
27	CTCF	chr4:79521093-79521538	K562	blood:	n/a	n/a
28	MAFK	chr4:79521052-79521440	K562	blood:	n/a	n/a
29	ZMIZ1	chr4:79521029-79521531	K562	blood:	n/a	n/a
30	IRF1	chr4:79521046-79521705	K562	blood:	n/a	chr4:79521681-79521692
31	TRIM28	chr4:79520861-79521649	K562	blood:	n/a	n/a
32	TEAD4	chr4:79520862-79521615	K562	blood:	n/a	n/a
33	MYC	chr4:79521005-79521564	K562	blood:	n/a	n/a
34	RCOR1	chr4:79520638-79521515	K562	blood:	n/a	n/a
35	HDAC2	chr4:79521089-79521441	K562	blood:	n/a	n/a
36	BCLAF1	chr4:79520906-79521434	K562	blood:	n/a	n/a
37	MEF2A	chr4:79521068-79521446	K562	blood:	n/a	n/a
38	CEBPB	chr4:79520902-79521455	K562	blood:	n/a	n/a
39	CUX1	chr4:79521011-79521492	K562	blood:	n/a	n/a
40	EP300	chr4:79521106-79521494	K562	blood:	n/a	n/a
41	JUN	chr4:79521081-79521472	K562	blood:	n/a	n/a
42	REST	chr4:79521087-79521486	K562	blood:	n/a	chr4:79521409-79521427 chr4:79521408-79521428
43	REST	chr4:79521059-79521521	K562	blood:	n/a	chr4:79521409-79521427 chr4:79521408-79521428
44	GATA1	chr4:79521157-79521581	PBDE	blood:	n/a	n/a
45	CEBPD	chr4:79520924-79521513	K562	blood:	n/a	n/a
46	STAT5A	chr4:79520973-79521432	K562	blood:	n/a	n/a
47	MAX	chr4:79520965-79521476	K562	blood:	n/a	n/a
48	POLR2A	chr4:79521008-79521521	K562	blood:	n/a	n/a
49	RCOR1	chr4:79521042-79521459	K562	blood:	n/a	n/a
50	CBX3	chr4:79520554-79521457	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr4:79521039..79522736-chr4:79591795..79594005,2	K562	blood:
2	chr4:79519658..79522109-chr4:79547092..79548790,2	K562	blood:
3	chr4:79494956..79497942-chr4:79518671..79521873,3	K562	blood:

No data

Variant related genes	Relation type
ANXA3	TF binding region

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11725235	0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs12647801	1.00[CEU][hapmap];0.85[CHB][hapmap];0.86[EUR][1000 genomes]
rs58089913	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs5942	1.00[CEU][hapmap];0.94[JPT][hapmap];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7661370	0.94[JPT][hapmap];0.81[ASN][1000 genomes]
rs7672903	1.00[CEU][hapmap];0.95[JPT][hapmap];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7686273	0.93[JPT][hapmap];0.81[ASN][1000 genomes]
rs7694152	1.00[CEU][hapmap];0.95[JPT][hapmap];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009633	chr4:78887573-79652236	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv967949	chr4:79511515-79527707	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:79474400-79527200	Weak transcription	Spleen	Spleen
2	chr4:79483000-79530000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr4:79488400-79523600	Weak transcription	Esophagus	oesophagus
4	chr4:79488400-79527400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr4:79490000-79523400	Weak transcription	Colon Smooth Muscle	Colon
6	chr4:79490800-79532600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr4:79491000-79529600	Weak transcription	Aorta	Aorta
8	chr4:79491200-79535400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr4:79491800-79533200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr4:79491800-79542600	Weak transcription	NH-A	brain
11	chr4:79492000-79531600	Strong transcription	HMEC	breast
12	chr4:79500000-79522200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
13	chr4:79502200-79529200	Weak transcription	Colonic Mucosa	Colon
14	chr4:79502400-79525800	Weak transcription	Psoas Muscle	Psoas
15	chr4:79502400-79532200	Strong transcription	Primary neutrophils fromperipheralblood	blood
16	chr4:79503200-79521800	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr4:79506800-79523800	Weak transcription	Placenta	Placenta
18	chr4:79508200-79533600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr4:79508600-79523600	Weak transcription	Adipose Nuclei	Adipose
20	chr4:79508800-79525400	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr4:79508800-79527000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr4:79508800-79527400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr4:79510800-79523400	Weak transcription	A549	lung
24	chr4:79511000-79523800	Weak transcription	Hela-S3	cervix
25	chr4:79512400-79523600	Weak transcription	Gastric	stomach
26	chr4:79512400-79524400	Weak transcription	Rectal Smooth Muscle	rectum
27	chr4:79512600-79534200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr4:79512600-79536800	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr4:79512800-79525600	Weak transcription	NHLF	lung
30	chr4:79513800-79534200	Strong transcription	NHEK	skin
31	chr4:79516000-79525400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr4:79517200-79534800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr4:79517600-79523600	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr4:79517800-79524000	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr4:79518000-79522400	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr4:79518000-79548000	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr4:79518200-79524200	Strong transcription	Fetal Stomach	stomach
38	chr4:79518400-79528200	Strong transcription	Fetal Intestine Large	intestine
39	chr4:79518600-79524200	Strong transcription	Fetal Intestine Small	intestine
40	chr4:79518600-79543600	Weak transcription	Stomach Mucosa	stomach
41	chr4:79518800-79521600	Strong transcription	Stomach Smooth Muscle	stomach
42	chr4:79519200-79528400	Strong transcription	HUES6 Cell Line	embryonic stem cell
43	chr4:79520600-79521800	Enhancers	Primary hematopoietic stem cells short term culture	blood
44	chr4:79520800-79521600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr4:79520800-79521800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr4:79520800-79522200	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr4:79520800-79524400	Strong transcription	Pancreas	Pancrea
48	chr4:79521000-79521800	Flanking Active TSS	K562	blood
49	chr4:79521000-79522600	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr4:79521000-79522600	Enhancers	HSMMtube	muscle

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