Variant report

Variant	rs34436514
Chromosome Location	chr11:104813100-104813101
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10466650	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10895752	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11226548	0.81[EUR][1000 genomes]
rs11226549	0.81[EUR][1000 genomes]
rs11226550	0.81[EUR][1000 genomes]
rs11226555	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11226557	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11226562	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11226565	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11601896	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12293970	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12362084	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12422201	0.81[EUR][1000 genomes]
rs15684	0.81[EUR][1000 genomes]
rs2005513	0.81[EUR][1000 genomes]
rs35733341	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4517484	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs491011	0.81[EUR][1000 genomes]
rs491945	0.81[EUR][1000 genomes]
rs518553	0.81[EUR][1000 genomes]
rs524060	0.81[EUR][1000 genomes]
rs528641	0.81[EUR][1000 genomes]
rs532705	0.81[EUR][1000 genomes]
rs532738	0.81[EUR][1000 genomes]
rs549691	0.81[EUR][1000 genomes]
rs595395	0.81[EUR][1000 genomes]
rs625046	0.81[EUR][1000 genomes]
rs626771	0.81[EUR][1000 genomes]
rs641046	0.81[EUR][1000 genomes]
rs656251	0.81[EUR][1000 genomes]
rs870402	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1046098	chr11:104207210-105003661	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv531430	chr11:104380924-105194452	Genic enhancers Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv832255	chr11:104674918-104846961	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv898355	chr11:104730322-104897843	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
5	nsv1040784	chr11:104763797-104855878	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
6	nsv468862	chr11:104774014-105243371	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	nsv556218	chr11:104774014-105243371	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
8	esv3334824	chr11:104776753-104813836	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv898356	chr11:104779195-104838471	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
10	esv3385159	chr11:104786549-105051555	Strong transcription Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
11	nsv1041081	chr11:104797775-104912458	Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
12	nsv975395	chr11:104809055-104814705	Weak transcription Strong transcription Genic enhancers Enhancers	lncRNA	n/a	inside rSNPs	diseases
13	nsv1044970	chr11:104809246-105225032	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
14	nsv541160	chr11:104809246-105225032	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs34436514	CASP4	Cis_1M	lymphoblastoid	RTeQTL
rs34436514	CASP1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:104803400-104819000	Weak transcription	Psoas Muscle	Psoas
2	chr11:104805600-104813600	Weak transcription	Spleen	Spleen
3	chr11:104805600-104813600	Weak transcription	HUVEC	blood vessel
4	chr11:104805600-104814800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr11:104805600-104814800	Weak transcription	Fetal Thymus	thymus
6	chr11:104806200-104814400	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr11:104806200-104814800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr11:104806400-104813200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr11:104806400-104818200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr11:104806600-104813200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr11:104806600-104813800	Weak transcription	Primary B cells from cord blood	blood
12	chr11:104806800-104813200	Weak transcription	Primary T cells from cord blood	blood
13	chr11:104806800-104813200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr11:104806800-104814000	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr11:104806800-104814000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr11:104806800-104814800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr11:104807000-104813800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr11:104807000-104817800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr11:104807000-104818200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr11:104807200-104818000	Weak transcription	Left Ventricle	heart
21	chr11:104810800-104813200	Weak transcription	Duodenum Mucosa	Duodenum
22	chr11:104810800-104813800	Weak transcription	GM12878-XiMat	blood
23	chr11:104811400-104813200	Weak transcription	Primary monocytes fromperipheralblood	blood
24	chr11:104811400-104813200	Weak transcription	Adipose Nuclei	Adipose
25	chr11:104811400-104818800	Weak transcription	Small Intestine	intestine
26	chr11:104811600-104813200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr11:104811600-104813200	Weak transcription	Fetal Lung	lung
28	chr11:104811600-104813800	Weak transcription	Fetal Intestine Large	intestine
29	chr11:104811600-104814800	Weak transcription	NHDF-Ad	bronchial
30	chr11:104811600-104815600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr11:104811800-104813400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr11:104811800-104813600	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr11:104811800-104815400	Weak transcription	NHEK	skin
34	chr11:104812000-104813600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr11:104812000-104813600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr11:104812000-104813600	Weak transcription	Lung	lung
37	chr11:104812000-104813600	Weak transcription	Ovary	ovary
38	chr11:104812000-104813600	Weak transcription	Pancreas	Pancrea
39	chr11:104812000-104814200	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr11:104812000-104814200	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr11:104812000-104814400	Weak transcription	Fetal Muscle Leg	muscle
42	chr11:104812000-104814800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr11:104812000-104825200	Strong transcription	Primary neutrophils fromperipheralblood	blood
44	chr11:104812200-104813800	Weak transcription	NHLF	lung
45	chr11:104812200-104814600	Weak transcription	Osteobl	bone
46	chr11:104812200-104814800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr11:104812200-104816600	Weak transcription	Fetal Intestine Small	intestine
48	chr11:104812200-104819000	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr11:104812400-104814000	Weak transcription	Esophagus	oesophagus
50	chr11:104812400-104819000	Weak transcription	Aorta	Aorta

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