Variant report

Variant	rs1883636
Chromosome Location	chr6:35468659-35468660
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:24)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:24 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	JUN	chr6:35468616-35469006	K562	blood:	n/a	n/a
2	RCOR1	chr6:35468588-35469009	K562	blood:	n/a	n/a
3	JUND	chr6:35468636-35469010	K562	blood:	n/a	n/a
4	POLR2A	chr6:35465558-35468992	K562	blood:	n/a	n/a
5	ARID3A	chr6:35468587-35468756	K562	blood:	n/a	n/a
6	MAZ	chr6:35468350-35469132	IMR90	lung:	n/a	n/a
7	POLR2A	chr6:35468515-35469156	Hela-S3	cervix:	n/a	n/a
8	USF2	chr6:35468618-35469005	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr6:35468603-35468664	H1-hESC	embryonic stem cell:	n/a	n/a
10	ZNF263	chr6:35468540-35469024	HEK293-T-REx	kidney:	n/a	n/a
11	MAZ	chr6:35468640-35468957	K562	blood:	n/a	n/a
12	USF1	chr6:35468614-35468912	H1-hESC	embryonic stem cell:	n/a	n/a
13	POLR2A	chr6:35468418-35468911	K562	blood:	n/a	n/a
14	RCOR1	chr6:35468657-35468856	Hela-S3	cervix:	n/a	n/a
15	JUN	chr6:35468465-35469292	K562	blood:	n/a	n/a
16	BHLHE40	chr6:35468622-35469097	K562	blood:	n/a	n/a
17	POLR2A	chr6:35468617-35468831	K562	blood:	n/a	n/a
18	USF1	chr6:35468603-35468854	SK-N-SH_RA	brain:	n/a	n/a
19	POLR2A	chr6:35468498-35468698	Hela-S3	cervix:	n/a	n/a
20	KAP1	chr6:35468350-35469027	U2OS	brain:	n/a	n/a
21	USF1	chr6:35468627-35468950	SK-N-SH	brain:	n/a	n/a
22	POLR2A	chr6:35464413-35468773	H1-hESC	embryonic stem cell:	n/a	n/a
23	USF1	chr6:35468572-35468940	K562	blood:	n/a	n/a
24	USF1	chr6:35468642-35468849	SK-N-SH_RA	brain:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:35423795..35426623-chr6:35465037..35468781,3	K562	blood:
2	chr6:35264944..35267460-chr6:35465302..35468823,3	MCF-7	breast:

No data

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

Extended variants
information (count: 16 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs2067997	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[GIH][hapmap];0.94[MEX][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs3777746	1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];0.92[JPT][hapmap];0.88[MEX][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3798344	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs45493300	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6928735	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6929353	0.94[EUR][1000 genomes]
rs7738975	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7768844	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9689798	0.82[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	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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1883636	SRPK1	cis	cerebellum	SCAN
rs1883636	LEMD2	cis	cerebellum	SCAN

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:35465600-35469200	Enhancers	Fetal Heart	heart
2	chr6:35466000-35468800	Enhancers	Skeletal Muscle Female	skeletal muscle
3	chr6:35466400-35469200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr6:35466400-35469200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr6:35466400-35476800	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr6:35466400-35479200	Weak transcription	Right Ventricle	heart
7	chr6:35466600-35469000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr6:35466800-35477000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr6:35466800-35479400	Weak transcription	Right Atrium	heart
10	chr6:35467000-35473400	Weak transcription	Esophagus	oesophagus
11	chr6:35467200-35469400	Enhancers	Placenta	Placenta
12	chr6:35467400-35478600	Weak transcription	Fetal Lung	lung
13	chr6:35467600-35469200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr6:35467600-35469200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr6:35467600-35469200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr6:35467600-35471600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr6:35467800-35469200	Enhancers	Left Ventricle	heart
18	chr6:35467800-35469200	Enhancers	Psoas Muscle	Psoas
19	chr6:35468000-35468800	Enhancers	Placenta Amnion	Placenta Amnion
20	chr6:35468000-35469000	Enhancers	HSMM	muscle
21	chr6:35468000-35469200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr6:35468000-35469200	Enhancers	Fetal Muscle Trunk	muscle
23	chr6:35468000-35469200	Enhancers	HSMMtube	muscle
24	chr6:35468000-35469200	Enhancers	NHDF-Ad	bronchial
25	chr6:35468200-35468800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr6:35468200-35469000	Enhancers	Osteobl	bone
27	chr6:35468200-35469200	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr6:35468200-35469200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr6:35468200-35469200	Enhancers	Hela-S3	cervix
30	chr6:35468400-35469000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
31	chr6:35468400-35469000	Enhancers	H9 Cell Line	embryonic stem cell
32	chr6:35468400-35469000	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr6:35468400-35469000	Enhancers	K562	blood
34	chr6:35468400-35469200	Enhancers	Muscle Satellite Cultured Cells	--
35	chr6:35468400-35469200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr6:35468400-35469800	Bivalent Enhancer	HepG2	liver
37	chr6:35468600-35468800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr6:35468600-35468800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
39	chr6:35468600-35469000	Enhancers	NH-A	brain
40	chr6:35468600-35469200	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr6:35468600-35469200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr6:35468600-35469200	Strong transcription	Fetal Stomach	stomach
43	chr6:35468600-35471200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr6:35468600-35471200	Enhancers	Fetal Muscle Leg	muscle

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