Variant report

Variant	rs6844356
Chromosome Location	chr4:79522598-79522599
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	JUN	chr4:79522139-79522610	K562	blood:	n/a	chr4:79522388-79522396
2	TEAD4	chr4:79522123-79522616	K562	blood:	n/a	n/a
3	CUX1	chr4:79522233-79522640	GM12878	blood:	n/a	n/a
4	NFIC	chr4:79522128-79522600	GM12878	blood:	n/a	n/a
5	CCNT2	chr4:79522215-79522646	K562	blood:	n/a	n/a
6	EBF1	chr4:79522089-79522874	GM12878	blood:	n/a	chr4:79522763-79522776 chr4:79522765-79522774 chr4:79522333-79522342 chr4:79522764-79522774 chr4:79522765-79522774
7	IRF4	chr4:79522163-79522603	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:79521039..79522736-chr4:79591795..79594005,2	K562	blood:
2	chr4:79522193..79524527-chr4:79697309..79699707,2	MCF-7	breast:

Variant related genes	Relation type
ANXA3	TF binding region
ENSG00000138756	Chromatin interaction

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

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

rs_ID	r²[population]
rs11735840	1.00[CEU][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6825653	1.00[CEU][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7671564	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7686273	1.00[CEU][hapmap]

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:66 , 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	chr4:79502200-79529200	Weak transcription	Colonic Mucosa	Colon
13	chr4:79502400-79525800	Weak transcription	Psoas Muscle	Psoas
14	chr4:79502400-79532200	Strong transcription	Primary neutrophils fromperipheralblood	blood
15	chr4:79506800-79523800	Weak transcription	Placenta	Placenta
16	chr4:79508200-79533600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr4:79508600-79523600	Weak transcription	Adipose Nuclei	Adipose
18	chr4:79508800-79525400	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr4:79508800-79527000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr4:79508800-79527400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr4:79510800-79523400	Weak transcription	A549	lung
22	chr4:79511000-79523800	Weak transcription	Hela-S3	cervix
23	chr4:79512400-79523600	Weak transcription	Gastric	stomach
24	chr4:79512400-79524400	Weak transcription	Rectal Smooth Muscle	rectum
25	chr4:79512600-79534200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr4:79512600-79536800	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr4:79512800-79525600	Weak transcription	NHLF	lung
28	chr4:79513800-79534200	Strong transcription	NHEK	skin
29	chr4:79516000-79525400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr4:79517200-79534800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr4:79517600-79523600	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr4:79517800-79524000	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr4:79518000-79548000	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr4:79518200-79524200	Strong transcription	Fetal Stomach	stomach
35	chr4:79518400-79528200	Strong transcription	Fetal Intestine Large	intestine
36	chr4:79518600-79524200	Strong transcription	Fetal Intestine Small	intestine
37	chr4:79518600-79543600	Weak transcription	Stomach Mucosa	stomach
38	chr4:79519200-79528400	Strong transcription	HUES6 Cell Line	embryonic stem cell
39	chr4:79520800-79524400	Strong transcription	Pancreas	Pancrea
40	chr4:79521000-79522600	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr4:79521000-79522600	Enhancers	HSMMtube	muscle
42	chr4:79521000-79522800	Enhancers	Fetal Heart	heart
43	chr4:79521000-79523400	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr4:79521000-79524200	Enhancers	Fetal Muscle Leg	muscle
45	chr4:79521200-79527600	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr4:79521400-79523600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr4:79521400-79523600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr4:79521400-79523600	Weak transcription	Left Ventricle	heart
49	chr4:79521400-79523600	Weak transcription	Lung	lung
50	chr4:79521400-79529800	Weak transcription	Primary hematopoietic stem cells	blood

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