Variant report

Variant	rs9942827
Chromosome Location	chr8:21025253-21025254
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs1010603	0.93[ASN][1000 genomes]
rs1010604	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12550022	0.81[ASN][1000 genomes]
rs1381000	0.98[ASN][1000 genomes]
rs1381001	0.98[ASN][1000 genomes]
rs1381002	0.98[ASN][1000 genomes]
rs1563922	0.90[ASN][1000 genomes]
rs1563923	0.91[ASN][1000 genomes]
rs1993718	0.80[ASN][1000 genomes]
rs2613709	0.81[ASN][1000 genomes]
rs2613711	0.94[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2613713	0.98[ASN][1000 genomes]
rs2613714	0.98[ASN][1000 genomes]
rs2613715	0.98[ASN][1000 genomes]
rs2613716	0.98[ASN][1000 genomes]
rs2631869	0.98[ASN][1000 genomes]
rs62497337	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs898646	0.90[ASN][1000 genomes]
rs898647	0.90[ASN][1000 genomes]
rs9942803	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1032450	chr8:20514995-21033577	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv539524	chr8:20514995-21033577	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv1034265	chr8:20742935-21152545	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv539528	chr8:20742935-21152545	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv831260	chr8:20907266-21097125	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv469878	chr8:20955260-21128307	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv482339	chr8:20955260-21128307	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv831261	chr8:20996095-21193619	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv890649	chr8:21001379-21171259	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv1023459	chr8:21023591-21042178	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9942827	SH2D4A	cis	cerebellum	SCAN

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:21020000-21027200	Enhancers	Fetal Intestine Small	intestine
2	chr8:21020200-21026000	Weak transcription	Spleen	Spleen
3	chr8:21023000-21026400	Enhancers	Duodenum Mucosa	Duodenum
4	chr8:21023600-21026400	Weak transcription	Fetal Brain Male	brain
5	chr8:21023600-21026400	Weak transcription	Fetal Brain Female	brain
6	chr8:21023600-21027000	Weak transcription	Fetal Thymus	thymus
7	chr8:21024000-21026800	Weak transcription	Primary hematopoietic stem cells	blood
8	chr8:21024000-21026800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr8:21024000-21026800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr8:21024000-21027200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr8:21024600-21028200	Enhancers	Colonic Mucosa	Colon
12	chr8:21024800-21026000	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr8:21025000-21027200	Enhancers	Fetal Intestine Large	intestine
14	chr8:21025200-21025400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
15	chr8:21025200-21025600	Bivalent Enhancer	Fetal Muscle Leg	muscle
16	chr8:21025200-21025800	Active TSS	Rectal Mucosa Donor 29	rectum

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