Variant report

Variant	rs4947464
Chromosome Location	chr7:50878411-50878412
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:50871845..50874817-chr7:50875745..50879437,4	K562	blood:
2	chr7:50871702..50877062-chr7:50877146..50881171,7	K562	blood:
3	chr7:50875562..50877095-chr7:50877461..50880211,2	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1018941	1.00[AFR][1000 genomes]
rs1018979	1.00[AFR][1000 genomes]
rs1018980	1.00[AFR][1000 genomes]
rs11765215	1.00[AFR][1000 genomes]
rs12530497	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17152083	0.86[CHB][hapmap];0.88[CHD][hapmap]
rs17547664	0.86[CHB][hapmap];0.82[JPT][hapmap]
rs17547986	0.86[CHB][hapmap];0.88[CHD][hapmap];0.82[JPT][hapmap]
rs17548938	0.82[CHB][hapmap]
rs1859477	1.00[AFR][1000 genomes]
rs1989265	1.00[AFR][1000 genomes]
rs2286155	1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[JPT][hapmap];0.87[TSI][hapmap]
rs4245558	0.86[CHB][hapmap]
rs4947462	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4947463	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4947816	0.86[CHB][hapmap];0.82[JPT][hapmap]
rs4947854	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs4947887	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4947902	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57219566	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58092690	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs60210111	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61618565	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs757771	1.00[CHB][hapmap]
rs7791286	1.00[CHB][hapmap];0.89[CHD][hapmap]
rs7803628	1.00[AFR][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	nsv1016665	chr7:50452552-51404524	Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv824091	chr7:50828682-50885984	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4947464	NFIX	trans	brain	seeQTL
rs4947464	ZNF44	trans	brain	seeQTL

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50862200-50889000	Weak transcription	Right Atrium	heart
2	chr7:50868000-50880000	Weak transcription	Left Ventricle	heart
3	chr7:50871400-50879600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr7:50871600-50879800	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr7:50873800-50879400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr7:50874000-50879000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr7:50874000-50879800	Weak transcription	A549	lung
8	chr7:50874400-50879800	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr7:50875200-50880200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr7:50875600-50880400	Weak transcription	Osteobl	bone
11	chr7:50876000-50879400	Weak transcription	Hela-S3	cervix
12	chr7:50876400-50880400	Weak transcription	Esophagus	oesophagus
13	chr7:50876400-50880600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr7:50876600-50879800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr7:50877000-50880400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr7:50877000-50880400	Weak transcription	HMEC	breast
17	chr7:50877800-50879800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr7:50878000-50878600	Enhancers	Spleen	Spleen
19	chr7:50878000-50879400	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr7:50878200-50878600	Weak transcription	Pancreas	Pancrea

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