Variant report

Variant	rs10947439
Chromosome Location	chr6:33774948-33774949
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:33774712..33778330-chr6:33783087..33786924,3	K562	blood:
2	chr6:33759898..33762472-chr6:33773491..33776525,3	K562	blood:
3	chr6:33773235..33775828-chr6:33782693..33785367,2	K562	blood:
4	chr6:33770966..33772879-chr6:33773435..33775857,2	K562	blood:

Variant related genes	Relation type
ENSG00000096395	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs1547669	0.85[CHB][hapmap];0.86[CHD][hapmap];0.93[JPT][hapmap];0.96[LWK][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs1547670	0.88[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs1886355	0.88[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs7774407	0.94[ASW][hapmap];1.00[CEU][hapmap];0.92[CHB][hapmap];0.89[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.95[TSI][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9394169	0.93[JPT][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	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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10947439	C6orf125	cis	parietal	SCAN
rs10947439	BAK1	cis	lymphoblastoid	seeQTL

Chromatin state (count:23 , 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	chr6:33772200-33775200	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr6:33772400-33775800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr6:33772400-33776200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr6:33772600-33775400	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr6:33772800-33775600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr6:33773200-33777400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr6:33773200-33777400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr6:33774400-33777600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr6:33774600-33775000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
17	chr6:33774600-33776200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
18	chr6:33774800-33775200	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr6:33774800-33775800	Enhancers	Brain Germinal Matrix	brain
20	chr6:33774800-33775800	Enhancers	Fetal Muscle Leg	muscle
21	chr6:33774800-33776200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
22	chr6:33774800-33776400	Enhancers	Primary T helper cells fromperipheralblood	blood
23	chr6:33774800-33776400	Bivalent Enhancer	Adipose Nuclei	Adipose

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