Variant report

Variant	rs1942691
Chromosome Location	chr11:101990252-101990253
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:101984887..101986803-chr11:101989514..101991065,2	K562	blood:

Extended variants
information (count: 57 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10750632	0.98[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10750633	0.87[CEU][hapmap];0.85[CHB][hapmap];0.91[JPT][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10750634	0.87[CEU][hapmap];0.83[CHB][hapmap];0.90[CHD][hapmap];0.89[GIH][hapmap];0.89[JPT][hapmap];0.95[TSI][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10791564	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10791565	0.82[JPT][hapmap]
rs10895258	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10895259	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10895261	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10895264	0.87[CEU][hapmap];0.85[CHB][hapmap];0.91[JPT][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10895265	0.86[ASN][1000 genomes]
rs10895266	0.82[JPT][hapmap]
rs11225134	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11225135	0.87[CEU][hapmap];0.90[CHB][hapmap];0.91[JPT][hapmap];0.89[YRI][hapmap];0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11225139	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11225141	0.84[EUR][1000 genomes]
rs11225149	0.81[EUR][1000 genomes]
rs11225151	0.82[JPT][hapmap]
rs11606471	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12790160	0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12796162	0.81[EUR][1000 genomes]
rs1365330	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1426392	0.87[CEU][hapmap];0.85[CHB][hapmap];0.91[JPT][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1426394	0.81[CHB][hapmap];0.90[CHD][hapmap];0.91[JPT][hapmap];1.00[MEX][hapmap];0.86[ASN][1000 genomes]
rs1834595	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1834596	0.85[CHB][hapmap];0.91[JPT][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1893497	0.81[JPT][hapmap];0.81[EUR][1000 genomes]
rs1895917	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1942680	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1942688	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1942689	0.90[CHB][hapmap];0.91[JPT][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1942690	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2003357	0.81[ASN][1000 genomes]
rs4329661	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4754833	0.81[CHB][hapmap];0.90[CHD][hapmap];0.91[JPT][hapmap];0.95[MEX][hapmap];0.88[TSI][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4754834	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6590949	0.82[JPT][hapmap];0.81[EUR][1000 genomes]
rs7108820	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7117239	0.81[EUR][1000 genomes]
rs7120363	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7123862	0.81[EUR][1000 genomes]
rs7124280	0.87[CEU][hapmap];0.84[CHB][hapmap];0.91[JPT][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7126535	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7126944	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7127597	0.81[JPT][hapmap];0.81[EUR][1000 genomes]
rs7128788	0.96[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs7130772	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7483889	0.82[JPT][hapmap]
rs7924737	0.87[CEU][hapmap];0.81[CHB][hapmap];0.91[JPT][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7928547	1.00[ASW][hapmap];0.91[CHB][hapmap];0.93[CHD][hapmap];0.97[GIH][hapmap];0.91[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.99[MKK][hapmap];0.97[TSI][hapmap];0.96[YRI][hapmap];0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7932563	0.93[AFR][1000 genomes]
rs7938172	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs948737	0.87[CEU][hapmap];0.81[CHB][hapmap];0.90[CHD][hapmap];0.91[JPT][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];0.85[TSI][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9787890	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3362945	chr11:101736547-102114246	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv898333	chr11:101832670-102079986	Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv1052348	chr11:101987090-102255753	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv556141	chr11:101988061-102207851	Weak transcription Genic enhancers Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1942691	CASP1	cis	parietal	SCAN

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:101983400-101998200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:101983600-101990800	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr11:101983600-101990800	Weak transcription	Brain Anterior Caudate	brain
4	chr11:101983600-101990800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr11:101983600-101990800	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr11:101983600-101991000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr11:101983600-101998000	Weak transcription	Right Ventricle	heart
8	chr11:101983600-101998200	Weak transcription	Colonic Mucosa	Colon
9	chr11:101983600-102014800	Weak transcription	Pancreas	Pancrea
10	chr11:101984000-101991600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr11:101984400-101991600	Enhancers	Duodenum Smooth Muscle	Duodenum
12	chr11:101984800-101991600	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr11:101985000-101991400	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr11:101985200-101998000	Weak transcription	Gastric	stomach
15	chr11:101985200-102009200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr11:101985600-101991200	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr11:101985800-101990800	Enhancers	Fetal Intestine Large	intestine
18	chr11:101986000-101991000	Enhancers	Rectal Mucosa Donor 31	rectum
19	chr11:101986000-101991600	Enhancers	Colon Smooth Muscle	Colon
20	chr11:101986200-101991600	Enhancers	Stomach Mucosa	stomach
21	chr11:101986600-101990800	Flanking Active TSS	A549	lung
22	chr11:101986800-101991000	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr11:101986800-101991800	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr11:101986800-101992000	Weak transcription	Psoas Muscle	Psoas
25	chr11:101986800-101992200	Weak transcription	Fetal Muscle Leg	muscle
26	chr11:101986800-101995400	Weak transcription	Fetal Muscle Trunk	muscle
27	chr11:101986800-101995600	Weak transcription	Right Atrium	heart
28	chr11:101987000-101991400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr11:101987400-101991000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr11:101987400-101992000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr11:101987400-101995000	Weak transcription	Placenta	Placenta
32	chr11:101987400-101996600	Weak transcription	Duodenum Mucosa	Duodenum
33	chr11:101988200-101991000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr11:101988200-101991400	Enhancers	Cortex derived primary cultured neurospheres	brain
35	chr11:101988400-101990600	Weak transcription	Spleen	Spleen
36	chr11:101988600-101990600	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr11:101988600-101991000	Weak transcription	HSMMtube	muscle
38	chr11:101988600-101992000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr11:101988600-101992400	Genic enhancers	Fetal Lung	lung
40	chr11:101988800-101990600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr11:101988800-101990600	Weak transcription	HSMM	muscle
42	chr11:101988800-101990800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr11:101988800-102009000	Weak transcription	Stomach Smooth Muscle	stomach
44	chr11:101988800-102009600	Weak transcription	Rectal Smooth Muscle	rectum
45	chr11:101989000-101990600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr11:101989200-101991800	Enhancers	HMEC	breast
47	chr11:101989400-101990600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr11:101989400-101990800	Enhancers	Hela-S3	cervix
49	chr11:101989400-101991000	Genic enhancers	HepG2	liver
50	chr11:101989400-101991400	Enhancers	Liver	Liver

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