Variant report

Variant	rs881981
Chromosome Location	chr4:100542482-100542483
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:100541883..100543841-chr4:100866288..100868388,2	K562	blood:
2	chr4:100538079..100540752-chr4:100541523..100543653,2	K562	blood:
3	chr4:100541785..100543841-chr4:100866888..100869744,2	K562	blood:

Variant related genes	Relation type
ENSG00000164031	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs10516445	1.00[ASW][hapmap];0.96[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12639930	0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12641768	0.92[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.98[MKK][hapmap];0.98[TSI][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12647188	0.82[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs13105033	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13112253	0.81[CEU][hapmap]
rs13126189	1.00[ASN][1000 genomes]
rs13130949	0.85[CHB][hapmap];0.94[JPT][hapmap];0.88[ASN][1000 genomes]
rs1491238	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2255119	0.85[LWK][hapmap];0.86[YRI][hapmap]
rs2306985	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3805337	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3828543	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4699755	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6532825	0.80[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs6852647	0.88[ASN][1000 genomes]
rs7659550	0.92[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MKK][hapmap];0.98[TSI][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7698798	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs959247	0.92[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MKK][hapmap];0.98[TSI][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs991811	1.00[ASW][hapmap];0.96[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933074	chr4:100460951-100630600	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	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
rs881981	H2AFZ	cis	cerebellum	SCAN
rs881981	ADH1B	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:100516400-100546200	Strong transcription	Liver	Liver
2	chr4:100518800-100545200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr4:100522600-100545800	Strong transcription	Fetal Intestine Large	intestine
4	chr4:100532800-100545200	Weak transcription	Aorta	Aorta
5	chr4:100534800-100545400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr4:100536800-100545200	Weak transcription	Stomach Smooth Muscle	stomach
7	chr4:100537000-100543400	Weak transcription	Colon Smooth Muscle	Colon
8	chr4:100537600-100543400	Weak transcription	Psoas Muscle	Psoas
9	chr4:100537600-100544200	Strong transcription	HepG2	liver
10	chr4:100538200-100556000	Weak transcription	Fetal Muscle Leg	muscle
11	chr4:100539400-100545200	Weak transcription	Rectal Smooth Muscle	rectum
12	chr4:100539800-100544200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr4:100541000-100544200	Strong transcription	Duodenum Mucosa	Duodenum
14	chr4:100541800-100544000	Strong transcription	Fetal Intestine Small	intestine
15	chr4:100541800-100547200	Weak transcription	Small Intestine	intestine
16	chr4:100542200-100545400	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr4:100542400-100545200	Weak transcription	Cortex derived primary cultured neurospheres	brain

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