Variant report

Variant	rs28364353
Chromosome Location	chr15:42650673-42650674
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr15:42649476-42650942	K562	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:42650662-42650712	AG09309	skin:	n/a
2	chr15:42650662-42650712	GM06990	blood:	n/a
3	chr15:42650662-42650712	SK-N-SH_RA	brain:	n/a
4	chr15:42650662-42650712	AG09319	gingival:	n/a
5	chr15:42650662-42650712	A549	lung:	n/a
6	chr15:42650662-42650712	GM12891	blood:	n/a
7	chr15:42650662-42650712	AG04449	skin:	fetal
8	chr15:42650662-42650712	GM12878	blood:	n/a
9	chr15:42650662-42650712	ovcar-3	ovarian:	n/a
10	chr15:42650662-42650712	PrEC	prostate:	n/a
11	chr15:42650662-42650712	HMEC	breast:	n/a
12	chr15:42650662-42650712	NHBE	bronchial:	n/a
13	chr15:42650662-42650712	HCPEpiC	choroid plexus:	n/a
14	chr15:42650662-42650712	HRCEpiC	kidney:	n/a
15	chr15:42650662-42650712	HCM	heart:	n/a
16	chr15:42650662-42650712	NT2-D1	testis:	n/a
17	chr15:42650662-42650712	NB4	blood:	n/a
18	chr15:42650662-42650712	HPAEpiC	pulmonary alveolar:	n/a
19	chr15:42650662-42650712	NHDF-neo	bronchial:	n/a
20	chr15:42650662-42650712	BJ	skin:	n/a
21	chr15:42650662-42650712	U87	brain:	n/a
22	chr15:42650662-42650712	K562	blood:	n/a
23	chr15:42650662-42650712	NH-A	brain:	n/a
24	chr15:42650662-42650712	PFSK-1	brain:	n/a
25	chr15:42650662-42650712	MCF10A-Er-Src	breast:	n/a
26	chr15:42650662-42650712	HepG2	liver:	n/a
27	chr15:42650662-42650712	HIPEpiC	eye:	n/a
28	chr15:42650662-42650712	GM12892	blood:	n/a
29	chr15:42650662-42650712	Hela-S3	cervix:	n/a
30	chr15:42650662-42650712	HRPEpiC	eye:	n/a
31	chr15:42650662-42650712	AG04450	lung:	fetal
32	chr15:42650662-42650712	HAEpiC	amniotic membrane:	n/a
33	chr15:42650662-42650712	SK-N-SH	brain:	n/a
34	chr15:42650662-42650712	HEK293	kidney:	embryo
35	chr15:42650662-42650712	ProgFib	skin:	n/a
36	chr15:42650662-42650712	Hepatocyte	liver:	n/a
37	chr15:42650662-42650712	ECC-1	luminal epithelium:	n/a
38	chr15:42650662-42650712	SK-N-MC	brain:	n/a
39	chr15:42650662-42650712	Caco-2	colon:	n/a
40	chr15:42650662-42650712	MCF-7	breast:	n/a
41	chr15:42650662-42650712	AoSMC	blood vessel:	n/a
42	chr15:42650662-42650712	HRE	kidney:	n/a
43	chr15:42650662-42650712	PANC-1	pancreas:	n/a
44	chr15:42650662-42650712	SAEC	small airway:	n/a
45	chr15:42650662-42650712	CMK	blood:	n/a
46	chr15:42650662-42650712	Jurkat	blood:	n/a
47	chr15:42650662-42650712	SKMC	muscle:	n/a
48	chr15:42650662-42650712	HEEpiC	esophagus:	n/a
49	chr15:42650662-42650712	RPTEC	kidney:	n/a
50	chr15:42650662-42650712	HCT-116	colon:	n/a

No data

Variant related genes	Relation type
CAPN3	TF binding region
CAPN3	CpG island

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs16972775	1.00[EUR][1000 genomes]
rs16972973	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16972983	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16972993	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16973003	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16973006	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16973103	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs16973149	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs16973183	1.00[EUR][1000 genomes]
rs16973203	1.00[EUR][1000 genomes]
rs16973233	1.00[EUR][1000 genomes]
rs28364361	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28364362	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28364364	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28364366	1.00[AMR][1000 genomes]
rs28364375	1.00[EUR][1000 genomes]
rs28364412	1.00[EUR][1000 genomes]
rs28364442	1.00[EUR][1000 genomes]
rs28364445	1.00[EUR][1000 genomes]
rs28364450	1.00[EUR][1000 genomes]
rs28364499	1.00[EUR][1000 genomes]
rs28402077	1.00[EUR][1000 genomes]
rs59897576	1.00[EUR][1000 genomes]
rs61735534	1.00[EUR][1000 genomes]
rs6493032	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7163294	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7164282	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7172064	1.00[EUR][1000 genomes]
rs7183741	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8026177	1.00[EUR][1000 genomes]
rs8031541	1.00[EUR][1000 genomes]
rs8037390	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8037485	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8037624	1.00[EUR][1000 genomes]
rs8041155	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8042890	1.00[AMR][1000 genomes]
rs9672364	1.00[EUR][1000 genomes]
rs9745221	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931223	chr15:41989960-42781757	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
2	nsv1049445	chr15:42239738-42830484	Enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
3	nsv542366	chr15:42239738-42830484	Weak transcription Active TSS Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
4	nsv904133	chr15:42528982-42681057	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
5	nsv832986	chr15:42587825-42753664	Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv832987	chr15:42627447-42792348	Active TSS Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
7	nsv932995	chr15:42640015-42704121	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:42568400-42656000	Weak transcription	Small Intestine	intestine
2	chr15:42604600-42651200	Weak transcription	Fetal Kidney	kidney
3	chr15:42619600-42656200	Weak transcription	HMEC	breast
4	chr15:42627600-42654600	Weak transcription	HSMM	muscle
5	chr15:42631800-42651000	Weak transcription	Fetal Heart	heart
6	chr15:42632200-42652600	Strong transcription	Primary B cells from peripheral blood	blood
7	chr15:42636400-42656600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr15:42637200-42653600	Weak transcription	Brain Germinal Matrix	brain
9	chr15:42638400-42651800	Weak transcription	Psoas Muscle	Psoas
10	chr15:42639400-42658600	Weak transcription	Hela-S3	cervix
11	chr15:42639800-42652200	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr15:42641400-42657400	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr15:42641800-42652800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr15:42642400-42655400	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr15:42643000-42650800	Strong transcription	Adipose Nuclei	Adipose
16	chr15:42643000-42654800	Strong transcription	Liver	Liver
17	chr15:42643200-42650800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr15:42645000-42652400	Weak transcription	Rectal Smooth Muscle	rectum
19	chr15:42645000-42656600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr15:42645000-42656800	Weak transcription	Brain Cingulate Gyrus	brain
21	chr15:42645600-42654400	Weak transcription	NHLF	lung
22	chr15:42645600-42655000	Weak transcription	Right Ventricle	heart
23	chr15:42645600-42655200	Weak transcription	Pancreas	Pancrea
24	chr15:42645600-42663000	Weak transcription	NHDF-Ad	bronchial
25	chr15:42645600-42663600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr15:42645600-42677800	Weak transcription	Spleen	Spleen
27	chr15:42645800-42652000	Weak transcription	Fetal Stomach	stomach
28	chr15:42645800-42653200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr15:42645800-42653200	Weak transcription	Fetal Lung	lung
30	chr15:42646000-42652000	Weak transcription	Brain Hippocampus Middle	brain
31	chr15:42646000-42654000	Weak transcription	Colon Smooth Muscle	Colon
32	chr15:42646000-42654600	Weak transcription	GM12878-XiMat	blood
33	chr15:42646000-42654800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr15:42646000-42655400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr15:42646000-42656200	Weak transcription	NHEK	skin
36	chr15:42646000-42662600	Weak transcription	Brain Substantia Nigra	brain
37	chr15:42646000-42678600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr15:42646200-42651000	Weak transcription	Primary neutrophils fromperipheralblood	blood
39	chr15:42646400-42654800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr15:42646600-42656000	Weak transcription	Colonic Mucosa	Colon
41	chr15:42647000-42651200	Strong transcription	Primary T cells from cord blood	blood
42	chr15:42647200-42653600	Weak transcription	Primary T helper cells PMA-I stimulated	--
43	chr15:42647200-42656600	Weak transcription	Brain Angular Gyrus	brain
44	chr15:42647200-42658400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr15:42647400-42651800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr15:42647400-42652200	Weak transcription	Primary hematopoietic stem cells	blood
47	chr15:42647400-42652400	Weak transcription	Osteobl	bone
48	chr15:42647400-42656800	Weak transcription	Brain Anterior Caudate	brain
49	chr15:42647600-42651600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr15:42647800-42656200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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