Variant report

Variant	rs6814746
Chromosome Location	chr4:7067335-7067336
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF384	chr4:7067075-7067502	K562	blood:	n/a	n/a
2	WRNIP1	chr4:7067300-7067500	GM12878	blood:	n/a	n/a
3	POLR2A	chr4:7067146-7067846	K562	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:7041999..7051916-chr4:7066728..7075643,37	MCF-7	breast:
2	chr4:6997053..6999861-chr4:7067007..7069346,2	K562	blood:
3	chr4:6909915..6911612-chr4:7066689..7068492,2	K562	blood:
4	chr4:7042421..7051559-chr4:7062214..7072674,24	MCF-7	breast:
5	chr4:6909455..6913239-chr4:7065910..7071137,7	K562	blood:
6	chr4:7052919..7061052-chr4:7065851..7072132,10	MCF-7	breast:

No data

Variant related genes	Relation type
GRPEL1	TF binding region
ENSG00000202392	Chromatin interaction
ENSG00000132405	Chromatin interaction
ENSG00000173011	Chromatin interaction
ENSG00000265550	Chromatin interaction
ENSG00000245748	Chromatin interaction
ENSG00000173013	Chromatin interaction
ENSG00000187904	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10012093	0.87[EUR][1000 genomes]
rs10937781	1.00[EUR][1000 genomes]
rs13113578	1.00[EUR][1000 genomes]
rs3951347	1.00[EUR][1000 genomes]
rs4513569	1.00[EUR][1000 genomes]
rs4689062	0.90[EUR][1000 genomes]
rs4689063	0.95[EUR][1000 genomes]
rs4689582	0.95[EUR][1000 genomes]
rs4689588	1.00[EUR][1000 genomes]
rs62291193	0.85[EUR][1000 genomes]
rs62291194	0.85[EUR][1000 genomes]
rs62291195	0.85[EUR][1000 genomes]
rs62291196	0.85[EUR][1000 genomes]
rs6832413	0.90[EUR][1000 genomes]
rs6841824	0.90[EUR][1000 genomes]
rs6849547	0.90[EUR][1000 genomes]
rs7666504	1.00[EUR][1000 genomes]
rs7699619	1.00[EUR][1000 genomes]
rs871133	0.90[EUR][1000 genomes]
rs907522	1.00[EUR][1000 genomes]
rs907524	1.00[EUR][1000 genomes]
rs907525	1.00[EUR][1000 genomes]
rs9985704	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34033	chr4:6973270-7390621	Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	esv2757919	chr4:6988148-7269901	Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	esv2759221	chr4:6988148-7269901	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv428436	chr4:6988148-7269901	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	nsv469847	chr4:7003525-7168441	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
6	nsv878531	chr4:7006541-7129556	Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
7	nsv4217	chr4:7035512-7080230	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7046200-7068600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr4:7054800-7067600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr4:7055000-7068200	Weak transcription	Fetal Heart	heart
4	chr4:7055200-7068400	Strong transcription	Fetal Stomach	stomach
5	chr4:7055400-7068200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr4:7055600-7067800	Strong transcription	Fetal Thymus	thymus
7	chr4:7055600-7068200	Strong transcription	Fetal Muscle Leg	muscle
8	chr4:7055600-7068200	Strong transcription	Placenta	Placenta
9	chr4:7056400-7068200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr4:7057000-7068200	Strong transcription	Osteobl	bone
11	chr4:7057400-7068400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr4:7057800-7067600	Strong transcription	Fetal Muscle Trunk	muscle
13	chr4:7059600-7067800	Strong transcription	NHEK	skin
14	chr4:7059600-7068400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr4:7060400-7067600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
16	chr4:7060600-7067400	Strong transcription	Liver	Liver
17	chr4:7060600-7068400	Strong transcription	HSMM	muscle
18	chr4:7061000-7067800	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr4:7062000-7067400	Strong transcription	ES-I3 Cell Line	embryonic stem cell
20	chr4:7062800-7068200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr4:7064000-7067800	Weak transcription	Fetal Brain Male	brain
22	chr4:7064000-7068200	Weak transcription	Colonic Mucosa	Colon
23	chr4:7065200-7067800	Genic enhancers	Primary T helper cells PMA-I stimulated	--
24	chr4:7065600-7068000	Weak transcription	Stomach Mucosa	stomach
25	chr4:7065800-7067800	Weak transcription	Brain Germinal Matrix	brain
26	chr4:7065800-7068400	Genic enhancers	Primary T cells fromperipheralblood	blood
27	chr4:7065800-7068400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr4:7065800-7068400	Weak transcription	Right Ventricle	heart
29	chr4:7066000-7067800	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr4:7066000-7067800	Weak transcription	Fetal Brain Female	brain
31	chr4:7066000-7067800	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr4:7066000-7067800	Weak transcription	NHDF-Ad	bronchial
33	chr4:7066000-7068000	Weak transcription	Brain Cingulate Gyrus	brain
34	chr4:7066000-7068000	Weak transcription	Brain Hippocampus Middle	brain
35	chr4:7066000-7068000	Weak transcription	Psoas Muscle	Psoas
36	chr4:7066000-7068000	Weak transcription	Rectal Smooth Muscle	rectum
37	chr4:7066000-7068000	Weak transcription	Small Intestine	intestine
38	chr4:7066000-7068200	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr4:7066000-7068200	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr4:7066000-7068400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr4:7066000-7068400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr4:7066000-7068400	Weak transcription	Fetal Kidney	kidney
43	chr4:7066000-7068400	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr4:7066000-7068400	Weak transcription	NH-A	brain
45	chr4:7066000-7068800	Weak transcription	Aorta	Aorta
46	chr4:7066200-7067800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr4:7066200-7067800	Weak transcription	Colon Smooth Muscle	Colon
48	chr4:7066200-7067800	Weak transcription	A549	lung
49	chr4:7066200-7068000	Weak transcription	NHLF	lung
50	chr4:7066200-7068200	Weak transcription	Brain Anterior Caudate	brain

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