Variant report

Variant	rs10796993
Chromosome Location	chr1:158010362-158010363
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 6 )

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

rs_ID	r²[population]
rs10796989	0.94[ASW][hapmap];0.89[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.80[TSI][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10796990	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.80[TSI][hapmap];0.96[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10796991	1.00[ASW][hapmap];0.89[CEU][hapmap];0.96[GIH][hapmap];0.95[LWK][hapmap];0.88[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10796992	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10796994	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10908613	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10908614	1.00[CEU][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11264879	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap]
rs11580742	1.00[CHD][hapmap]
rs11585913	1.00[CHD][hapmap]
rs12047033	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17419936	0.89[CEU][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap]
rs17419999	0.89[CEU][hapmap]
rs17453741	0.89[CEU][hapmap]
rs1925033	1.00[CEU][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs3892165	1.00[CHD][hapmap]
rs4246542	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4971122	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6427417	1.00[CEU][hapmap];1.00[CHD][hapmap]
rs6686246	0.86[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];0.80[TSI][hapmap];0.84[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][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	esv1823720	chr1:157978556-158034017	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs10796993	VPS39	trans	parietal	SCAN
rs10796993	ASH1L	cis	cerebellum	SCAN
rs10796993	DCST1	cis	cerebellum	SCAN
rs10796993	GATAD2B	cis	cerebellum	SCAN
rs10796993	KIRREL	cis	cerebellum	SCAN
rs10796993	SPRR3	cis	cerebellum	SCAN

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:157997600-158047600	Weak transcription	Dnd41	blood
2	chr1:157999000-158013000	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr1:158001200-158011800	Weak transcription	Fetal Intestine Large	intestine
4	chr1:158001200-158047400	Weak transcription	Thymus	Thymus
5	chr1:158002400-158025400	Weak transcription	Fetal Brain Female	brain
6	chr1:158007800-158013000	Weak transcription	Duodenum Mucosa	Duodenum
7	chr1:158008000-158011800	Weak transcription	Fetal Intestine Small	intestine
8	chr1:158008000-158012200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr1:158008000-158014800	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr1:158008000-158019600	Weak transcription	Colonic Mucosa	Colon
11	chr1:158008200-158011400	Weak transcription	Lung	lung
12	chr1:158008200-158013000	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr1:158008200-158013000	Weak transcription	Right Atrium	heart
14	chr1:158008200-158015000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr1:158008200-158018400	Weak transcription	Spleen	Spleen
16	chr1:158008200-158023000	Weak transcription	A549	lung
17	chr1:158008200-158024600	Weak transcription	Placenta	Placenta
18	chr1:158008600-158012800	Weak transcription	Fetal Heart	heart
19	chr1:158008800-158012800	Weak transcription	Aorta	Aorta
20	chr1:158008800-158013200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr1:158008800-158015000	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr1:158009000-158013000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr1:158009000-158013000	Weak transcription	Fetal Muscle Trunk	muscle
24	chr1:158009200-158011400	Weak transcription	Fetal Stomach	stomach
25	chr1:158009200-158012400	Weak transcription	Rectal Smooth Muscle	rectum
26	chr1:158009200-158013000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr1:158009200-158013000	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr1:158009200-158013000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr1:158009200-158013000	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr1:158009200-158013200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr1:158009200-158013600	Weak transcription	Fetal Kidney	kidney
32	chr1:158009400-158011000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr1:158009400-158011400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr1:158009400-158012200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr1:158009400-158012200	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr1:158009400-158012800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr1:158009400-158013000	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr1:158009400-158013000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr1:158009400-158013000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr1:158009400-158013400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr1:158009400-158014800	Weak transcription	Left Ventricle	heart
42	chr1:158009400-158024400	Weak transcription	Hela-S3	cervix
43	chr1:158009600-158011000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr1:158009600-158011200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr1:158009600-158011400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr1:158009600-158011600	Weak transcription	Ovary	ovary
47	chr1:158009600-158011800	Weak transcription	NHLF	lung
48	chr1:158009600-158012200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr1:158009600-158012400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr1:158009600-158012800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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