Variant report

Variant	rs73629701
Chromosome Location	chr11:104769174-104769175
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:9)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	JUN	chr11:104768969-104769709	HUVEC	blood vessel:	n/a	n/a
2	POLR2A	chr11:104769135-104769218	HUVEC	blood vessel:	n/a	n/a
3	POLR2A	chr11:104768852-104769625	HUVEC	blood vessel:	n/a	n/a
4	EBF1	chr11:104768779-104769250	GM12878	blood:	n/a	n/a
5	STAT1	chr11:104769078-104769177	GM12878	blood:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CASP12-2	chr11:104769135-104769397	NR_034068
2	lnc-CASP12-2	chr11:104769135-104769397	NR_034067
3	lnc-CASP12-2	chr11:104769135-104769397	NR_034066
4	lnc-CASP12-2	chr11:104769135-104769397	NR_034071
5	lnc-CASP12-2	chr11:104769135-104769397	NR_034065
6	lnc-CASP12-2	chr11:104769135-104769397	NR_034063
7	lnc-CASP12-2	chr11:104769135-104769397	NR_034070
8	lnc-CASP12-2	chr11:104769135-104769397	NR_034061
9	lnc-CASP12-2	chr11:104769135-104769397	NR_034064

No data

Variant related genes	Relation type
CASP12	TF binding region

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs483013	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs489229	0.81[AFR][1000 genomes]
rs497116	0.91[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs5000899	1.00[ASN][1000 genomes]
rs507894	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs536992	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs556589	1.00[ASN][1000 genomes]
rs557973	0.91[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs55923694	1.00[ASN][1000 genomes]
rs560339	0.81[AFR][1000 genomes]
rs562183	0.91[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs571553	0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs576568	1.00[ASN][1000 genomes]
rs604583	0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs619368	0.81[AFR][1000 genomes]
rs635846	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs648264	0.91[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs660718	1.00[ASN][1000 genomes]
rs674467	1.00[ASN][1000 genomes]
rs693001	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs693506	1.00[ASN][1000 genomes]
rs7928242	1.00[ASN][1000 genomes]
rs7929558	0.81[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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	nsv1040536	chr11:104757419-104781022	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
9	esv20820	chr11:104757749-104781659	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
10	nsv556217	chr11:104758035-104781313	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
11	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

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:104765600-104769800	Active TSS	Aorta	Aorta
2	chr11:104766400-104769200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr11:104766600-104769200	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr11:104766600-104769400	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr11:104767000-104769200	Weak transcription	Fetal Stomach	stomach
6	chr11:104767800-104769600	Active TSS	Ovary	ovary
7	chr11:104768000-104769400	Active TSS	Rectal Mucosa Donor 29	rectum
8	chr11:104768200-104769200	Enhancers	Primary T cells fromperipheralblood	blood
9	chr11:104768200-104769400	Active TSS	Colon Smooth Muscle	Colon
10	chr11:104768200-104769400	Active TSS	Duodenum Smooth Muscle	Duodenum
11	chr11:104768200-104769400	Active TSS	Pancreatic Islets	Pancreatic Islet
12	chr11:104768200-104769600	Enhancers	Primary T killer memory cells from peripheral blood	blood
13	chr11:104768200-104769600	Active TSS	Stomach Smooth Muscle	stomach
14	chr11:104768200-104769800	Enhancers	Primary T helper cells fromperipheralblood	blood
15	chr11:104768400-104769400	Active TSS	Brain Anterior Caudate	brain
16	chr11:104768400-104769400	Active TSS	Duodenum Mucosa	Duodenum
17	chr11:104768400-104769400	Active TSS	Rectal Mucosa Donor 31	rectum
18	chr11:104768400-104769400	Active TSS	Skeletal Muscle Female	skeletal muscle
19	chr11:104768400-104769600	Active TSS	Rectal Smooth Muscle	rectum
20	chr11:104768400-104769600	Active TSS	Right Atrium	heart
21	chr11:104768400-104770400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
22	chr11:104768600-104769200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr11:104768600-104769200	Enhancers	Primary T cells from cord blood	blood
24	chr11:104768600-104769200	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
25	chr11:104768600-104769200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr11:104768600-104769200	Active TSS	Brain Inferior Temporal Lobe	brain
27	chr11:104768600-104769200	Active TSS	Colonic Mucosa	Colon
28	chr11:104768600-104769200	Active TSS	Esophagus	oesophagus
29	chr11:104768600-104769200	Enhancers	Fetal Muscle Leg	muscle
30	chr11:104768600-104769200	Active TSS	Left Ventricle	heart
31	chr11:104768600-104769200	Active TSS	Lung	lung
32	chr11:104768600-104769200	Active TSS	Pancreas	Pancrea
33	chr11:104768600-104769400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
34	chr11:104768600-104769400	Active TSS	Skeletal Muscle Male	skeletal muscle
35	chr11:104768600-104769400	Flanking Active TSS	GM12878-XiMat	blood
36	chr11:104768600-104769400	Flanking Active TSS	HUVEC	blood vessel
37	chr11:104768600-104770200	Enhancers	Primary B cells from peripheral blood	blood
38	chr11:104768800-104769200	Active TSS	Primary T regulatory cells fromperipheralblood	blood
39	chr11:104768800-104769200	Active TSS	Fetal Lung	lung
40	chr11:104768800-104769400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr11:104768800-104769400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr11:104768800-104769400	Active TSS	Psoas Muscle	Psoas
43	chr11:104768800-104769800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr11:104768800-104770400	Enhancers	Primary T helper naive cells from peripheral blood	blood
45	chr11:104769000-104769200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr11:104769000-104769200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
47	chr11:104769000-104769200	Flanking Active TSS	Brain Hippocampus Middle	brain
48	chr11:104769000-104769200	Enhancers	NHLF	lung
49	chr11:104769000-104769400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr11:104769000-104769400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--

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