Variant report

Variant	rs3798344
Chromosome Location	chr6:35466900-35466901
allele	C/G
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	BHLHE40	chr6:35464925-35466949	K562	blood:	n/a	chr6:35465324-35465340 chr6:35466465-35466481
2	POLR2A	chr6:35465558-35468992	K562	blood:	n/a	n/a
3	POLR2A	chr6:35466699-35467164	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr6:35463664-35467519	K562	blood:	n/a	n/a
5	POLR2A	chr6:35464828-35467123	K562	blood:	n/a	n/a
6	POLR2A	chr6:35463915-35466993	K562	blood:	n/a	n/a
7	HEY1	chr6:35464874-35467343	K562	blood:	n/a	chr6:35465117-35465132 chr6:35465024-35465039 chr6:35464945-35464960 chr6:35465320-35465335 chr6:35465077-35465092 chr6:35465105-35465120
8	POLR2A	chr6:35463903-35466920	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr6:35464827-35466949	K562	blood:	n/a	n/a
10	POLR2A	chr6:35465214-35466917	K562	blood:	n/a	n/a
11	POLR2A	chr6:35466734-35467043	Hela-S3	cervix:	n/a	n/a
12	MAX	chr6:35464425-35467006	K562	blood:	n/a	chr6:35466408-35466421 chr6:35466413-35466421 chr6:35466410-35466419 chr6:35465374-35465383 chr6:35466410-35466419 chr6:35466409-35466420 chr6:35466410-35466419 chr6:35466408-35466421 chr6:35464965-35464975 chr6:35466410-35466420 chr6:35466405-35466424 chr6:35466410-35466420 chr6:35466409-35466420 chr6:35466408-35466421 chr6:35464473-35464483 chr6:35466409-35466420
13	POLR2A	chr6:35464677-35467033	Hela-S3	cervix:	n/a	n/a
14	POLR2A	chr6:35464413-35468773	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr6:35464392-35467304	K562	blood:	n/a	n/a
16	POLR2A	chr6:35464794-35466980	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:35423795..35426623-chr6:35465037..35468781,3	K562	blood:
2	chr6:35270724..35273111-chr6:35465041..35467348,2	K562	blood:
3	chr6:35465446..35468035-chr6:35607430..35610345,2	K562	blood:
4	chr6:35465223..35467694-chr6:35696445..35698937,2	K562	blood:
5	chr6:35225785..35227535-chr6:35464894..35467017,2	K562	blood:
6	chr6:35264944..35267460-chr6:35465302..35468823,3	MCF-7	breast:
7	chr6:35466533..35467261-chr6:35703756..35704714,2	K562	blood:
8	chr6:35464601..35467910-chr6:35655207..35659461,3	K562	blood:
9	chr6:35376688..35379327-chr6:35465068..35467470,3	K562	blood:
10	chr6:35289938..35291662-chr6:35465459..35467668,2	K562	blood:
11	chr6:35464241..35466956-chr6:35695881..35700309,4	MCF-7	breast:
12	chr6:35465054..35467000-chr6:36192851..36194879,2	MCF-7	breast:
13	chr6:35418643..35423313-chr6:35462563..35468017,10	K562	blood:
14	chr6:35465083..35467815-chr6:35613967..35615894,2	MCF-7	breast:
15	chr6:35465886..35468037-chr6:35705048..35706925,2	K562	blood:

Variant related genes	Relation type
TEAD3	TF binding region
ENSG00000112039	Chromatin interaction
ENSG00000096060	Chromatin interaction
ENSG00000065029	Chromatin interaction
ENSG00000023892	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1883636	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2067997	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3777746	0.82[EUR][1000 genomes]
rs45493300	0.80[EUR][1000 genomes]
rs56313753	0.86[ASN][1000 genomes]
rs6928735	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6929353	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7738975	0.87[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs7768844	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9689798	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][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	nsv519370	chr6:35378778-35537406	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	72 gene(s)	inside rSNPs	diseases
2	nsv984463	chr6:35432948-35477634	Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA	67 gene(s)	inside rSNPs	diseases
3	nsv462909	chr6:35457396-35502202	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	24 gene(s)	inside rSNPs	diseases
4	nsv602912	chr6:35457396-35502202	Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	24 gene(s)	inside rSNPs	diseases
5	esv2758048	chr6:35463741-35806504	Genic enhancers Weak transcription Active TSS Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
6	esv2759420	chr6:35463741-35806504	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
7	esv1820663	chr6:35464197-35471362	Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:35465400-35467600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr6:35465600-35469200	Enhancers	Fetal Heart	heart
3	chr6:35466000-35468800	Enhancers	Skeletal Muscle Female	skeletal muscle
4	chr6:35466200-35467000	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
5	chr6:35466200-35467000	Enhancers	Gastric	stomach
6	chr6:35466200-35467000	Enhancers	Ovary	ovary
7	chr6:35466200-35467400	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
8	chr6:35466400-35467000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr6:35466400-35467000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr6:35466400-35467000	Bivalent Enhancer	Fetal Intestine Small	intestine
11	chr6:35466400-35467000	Enhancers	NHDF-Ad	bronchial
12	chr6:35466400-35467200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr6:35466400-35467200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr6:35466400-35467200	Enhancers	Fetal Kidney	kidney
15	chr6:35466400-35467400	Enhancers	Fetal Lung	lung
16	chr6:35466400-35467800	Weak transcription	Left Ventricle	heart
17	chr6:35466400-35467800	Weak transcription	Psoas Muscle	Psoas
18	chr6:35466400-35468000	Weak transcription	HSMM	muscle
19	chr6:35466400-35468000	Weak transcription	HSMMtube	muscle
20	chr6:35466400-35468200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr6:35466400-35468200	Weak transcription	Osteobl	bone
22	chr6:35466400-35468600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr6:35466400-35469200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr6:35466400-35469200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr6:35466400-35476800	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr6:35466400-35479200	Weak transcription	Right Ventricle	heart
27	chr6:35466600-35467000	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr6:35466600-35467000	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
29	chr6:35466600-35467000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
30	chr6:35466600-35467000	Bivalent Enhancer	Stomach Smooth Muscle	stomach
31	chr6:35466600-35467200	Bivalent Enhancer	Placenta	Placenta
32	chr6:35466600-35467400	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
33	chr6:35466600-35467600	Enhancers	Placenta Amnion	Placenta Amnion
34	chr6:35466600-35467800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr6:35466600-35468000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr6:35466600-35468400	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr6:35466600-35468400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr6:35466600-35468400	Weak transcription	NHLF	lung
39	chr6:35466600-35469000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr6:35466800-35467000	Enhancers	H9 Cell Line	embryonic stem cell
41	chr6:35466800-35467000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr6:35466800-35467000	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
43	chr6:35466800-35467000	Enhancers	Esophagus	oesophagus
44	chr6:35466800-35467200	Enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr6:35466800-35467200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
46	chr6:35466800-35467200	Enhancers	Fetal Stomach	stomach
47	chr6:35466800-35467400	Enhancers	Colon Smooth Muscle	Colon
48	chr6:35466800-35467400	Enhancers	K562	blood
49	chr6:35466800-35467600	Enhancers	Breast Myoepithelial Primary Cells	Breast
50	chr6:35466800-35468000	Enhancers	Fetal Muscle Leg	muscle

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