Variant report

Variant	rs488928
Chromosome Location	chr11:104789221-104789222
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:104788488-104789400	HUVEC	blood vessel:	n/a	n/a
2	POLR2A	chr11:104785665-104789803	HUVEC	blood vessel:	n/a	n/a

Variant related genes	Relation type
ENSG00000235505	TF binding region

Extended variants
information (count: 18 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs506601	0.80[CEU][hapmap]
rs571407	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs623114	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:15 , 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	nsv1054456	chr11:104358924-104805251	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	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
4	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
5	esv2757474	chr11:104719593-104798545	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	esv2759862	chr11:104719593-104798545	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	esv3356969	chr11:104786594-104803934	Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases
15	nsv983232	chr11:104787454-104809055	Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs488928	CASP1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:104786800-104789400	Flanking Active TSS	HUVEC	blood vessel
2	chr11:104786800-104789800	Active TSS	Aorta	Aorta
3	chr11:104787000-104789400	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
4	chr11:104787000-104789600	Active TSS	Primary T cells fromperipheralblood	blood
5	chr11:104787000-104789600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
6	chr11:104787200-104789400	Active TSS	Ovary	ovary
7	chr11:104787200-104789600	Active TSS	Duodenum Mucosa	Duodenum
8	chr11:104787400-104789400	Active TSS	Stomach Smooth Muscle	stomach
9	chr11:104787400-104789600	Active TSS	Rectal Mucosa Donor 29	rectum
10	chr11:104787400-104789600	Active TSS	Right Atrium	heart
11	chr11:104787600-104789400	Active TSS	Psoas Muscle	Psoas
12	chr11:104787800-104789400	Active TSS	Breast Myoepithelial Primary Cells	Breast
13	chr11:104787800-104789400	Active TSS	NHDF-Ad	bronchial
14	chr11:104787800-104789600	Flanking Active TSS	Dnd41	blood
15	chr11:104788000-104789400	Active TSS	Pancreatic Islets	Pancreatic Islet
16	chr11:104788000-104789400	Active TSS	Skeletal Muscle Female	skeletal muscle
17	chr11:104788200-104789400	Active TSS	Primary T helper naive cells fromperipheralblood	blood
18	chr11:104788200-104789400	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
19	chr11:104788200-104789400	Active TSS	Primary T killer memory cells from peripheral blood	blood
20	chr11:104788200-104789400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr11:104788200-104789400	Active TSS	Rectal Smooth Muscle	rectum
22	chr11:104788200-104789400	Active TSS	NHLF	lung
23	chr11:104788200-104789600	Flanking Active TSS	Primary T cells from cord blood	blood
24	chr11:104788400-104789400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr11:104788400-104789400	Active TSS	GM12878-XiMat	blood
26	chr11:104788400-104789600	Flanking Active TSS	Primary B cells from cord blood	blood
27	chr11:104788400-104789600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr11:104788400-104789600	Active TSS	Monocytes-CD14+_RO01746	blood
29	chr11:104788600-104789400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr11:104788600-104789400	Active TSS	Colonic Mucosa	Colon
31	chr11:104788600-104789600	Active TSS	Colon Smooth Muscle	Colon
32	chr11:104788800-104789400	Flanking Active TSS	Primary B cells from peripheral blood	blood
33	chr11:104788800-104789400	Active TSS	A549	lung
34	chr11:104788800-104789400	Active TSS	NH-A	brain
35	chr11:104789000-104789400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr11:104789000-104789400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr11:104789000-104789400	Flanking Active TSS	Brain Hippocampus Middle	brain
38	chr11:104789200-104789400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr11:104789200-104789400	Enhancers	Primary monocytes fromperipheralblood	blood
40	chr11:104789200-104789400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
41	chr11:104789200-104789400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr11:104789200-104789400	Flanking Active TSS	Fetal Stomach	stomach
43	chr11:104789200-104789400	Flanking Active TSS	Osteobl	bone
44	chr11:104789200-104789600	Enhancers	Primary hematopoietic stem cells	blood
45	chr11:104789200-104789600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
46	chr11:104789200-104789600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
47	chr11:104789200-104789600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr11:104789200-104789600	Enhancers	Muscle Satellite Cultured Cells	--
49	chr11:104789200-104789600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
50	chr11:104789200-104789600	Flanking Active TSS	Adipose Nuclei	Adipose

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