Variant report

Variant	rs650861
Chromosome Location	chr11:75430950-75430951
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:75423646..75425640-chr11:75430589..75432654,2	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10793123	0.81[EUR][1000 genomes]
rs10899102	0.88[EUR][1000 genomes]
rs1145700	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1219536	0.96[CEU][hapmap];0.87[EUR][1000 genomes]
rs1219537	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1219538	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1219539	0.87[EUR][1000 genomes]
rs1238914	1.00[CEU][hapmap];0.95[MEX][hapmap];0.98[TSI][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs473013	1.00[CEU][hapmap];0.84[CHB][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs473791	1.00[CEU][hapmap];0.84[CHB][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs554202	1.00[CEU][hapmap];0.95[MEX][hapmap];0.98[TSI][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs623693	1.00[CEU][hapmap];0.95[MEX][hapmap];0.98[TSI][hapmap];0.99[AMR][1000 genomes];0.99[EUR][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	esv3381903	chr11:75123498-75587233	Bivalent Enhancer Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
2	nsv897924	chr11:75424546-75678647	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs650861	NUMA1	cis	parietal	SCAN
rs650861	GAB2	cis	parietal	SCAN
rs650861	DHCR7	cis	parietal	SCAN
rs650861	LRRC32	cis	parietal	SCAN
rs650861	ARHGEF17	cis	cerebellum	SCAN

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:75428200-75431200	Enhancers	Gastric	stomach
2	chr11:75428600-75431000	Enhancers	Stomach Mucosa	stomach
3	chr11:75428800-75431000	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr11:75428800-75431000	Enhancers	Skeletal Muscle Male	skeletal muscle
5	chr11:75428800-75431200	Enhancers	Left Ventricle	heart
6	chr11:75428800-75431200	Active TSS	Rectal Smooth Muscle	rectum
7	chr11:75429000-75431600	Flanking Active TSS	Fetal Intestine Large	intestine
8	chr11:75429000-75431600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
9	chr11:75429600-75431400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
10	chr11:75429600-75432400	Flanking Active TSS	Liver	Liver
11	chr11:75429600-75432800	Weak transcription	Spleen	Spleen
12	chr11:75429600-75439600	Weak transcription	Fetal Stomach	stomach
13	chr11:75429800-75436800	Weak transcription	Right Atrium	heart
14	chr11:75430200-75431200	Enhancers	Sigmoid Colon	Sigmoid Colon
15	chr11:75430200-75436800	Weak transcription	Right Ventricle	heart
16	chr11:75430400-75431200	Flanking Active TSS	Fetal Intestine Small	intestine
17	chr11:75430400-75433600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr11:75430400-75434800	Weak transcription	Fetal Heart	heart
19	chr11:75430600-75431000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr11:75430600-75431400	Flanking Active TSS	Colonic Mucosa	Colon
21	chr11:75430600-75432600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr11:75430600-75432800	Weak transcription	Fetal Thymus	thymus
23	chr11:75430600-75433800	Weak transcription	GM12878-XiMat	blood
24	chr11:75430800-75431000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr11:75430800-75431000	Enhancers	Adipose Nuclei	Adipose
26	chr11:75430800-75431000	Active TSS	Duodenum Mucosa	Duodenum
27	chr11:75430800-75431000	Active TSS	HepG2	liver

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