Variant report

No.	Distal block	Cell Line	Cell type
1	chr6:33759898..33762472-chr6:33773491..33776525,3	K562	blood:
2	chr6:33773235..33775828-chr6:33782693..33785367,2	K562	blood:
3	chr6:33770966..33772879-chr6:33773435..33775857,2	K562	blood:

Variant related genes	Relation type
ENSG00000096395	Chromatin interaction

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10947436	0.85[ASW][hapmap]
rs10947446	0.87[YRI][hapmap]
rs1318691	0.83[ASN][1000 genomes]
rs1547668	0.84[LWK][hapmap];0.92[YRI][hapmap];0.82[AFR][1000 genomes]
rs2182658	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs2182659	0.85[ASW][hapmap]
rs2395399	0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2395401	0.85[ASW][hapmap]
rs2395446	0.83[ASN][1000 genomes]
rs3957165	0.80[MKK][hapmap]
rs6921772	0.83[ASN][1000 genomes]
rs751727	0.92[YRI][hapmap]
rs756138	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs756139	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs7739273	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs9380379	0.80[ASN][1000 genomes]
rs942496	0.88[YRI][hapmap]
rs943472	0.85[ASW][hapmap]
rs943473	0.83[ASN][1000 genomes]
rs943476	1.00[CHB][hapmap];0.85[CHD][hapmap];0.83[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	nsv462897	chr6:33717770-33778964	Genic enhancers Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv602839	chr6:33717770-33778964	Enhancers Genic enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs4713685	C6orf125	cis	parietal	SCAN
rs4713685	C6orf129	cis	parietal	SCAN
rs4713685	BAK1	cis	lymphoblastoid	seeQTL
rs4713685	C6orf125	cis	cerebellum	SCAN
rs4713685	LEMD2	cis	Thyroid	GTEx

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:33757600-33775800	Weak transcription	Right Atrium	heart
2	chr6:33766000-33776000	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr6:33766800-33776400	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr6:33770400-33776000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr6:33770600-33776200	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr6:33771000-33776200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr6:33771400-33777000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr6:33771600-33774800	Weak transcription	Brain Germinal Matrix	brain
9	chr6:33772200-33775200	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr6:33772400-33775800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr6:33772400-33776200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr6:33772600-33775400	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr6:33772800-33774800	Weak transcription	Fetal Intestine Small	intestine
14	chr6:33772800-33775600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr6:33773200-33777400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr6:33773200-33777400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr6:33774400-33777600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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