Variant report

Variant	rs17764849
Chromosome Location	chr15:42695875-42695876
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

No data

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:42695858-42695908	BE2_C	brain:	n/a
2	chr15:42695858-42695908	HCPEpiC	choroid plexus:	n/a
3	chr15:42695858-42695908	CMK	blood:	n/a
4	chr15:42695858-42695908	MCF10A-Er-Src	breast:	n/a
5	chr15:42695858-42695908	HPAEpiC	pulmonary alveolar:	n/a
6	chr15:42695858-42695908	HAEpiC	amniotic membrane:	n/a
7	chr15:42695858-42695908	A549	lung:	n/a
8	chr15:42695858-42695908	HUVEC	blood vessel:	n/a
9	chr15:42695858-42695908	AG04449	skin:	fetal
10	chr15:42695858-42695908	RPTEC	kidney:	n/a
11	chr15:42695858-42695908	Hela-S3	cervix:	n/a
12	chr15:42695858-42695908	HIPEpiC	eye:	n/a
13	chr15:42695858-42695908	HEK293	kidney:	embryo
14	chr15:42695858-42695908	NHDF-neo	bronchial:	n/a
15	chr15:42695858-42695908	ovcar-3	ovarian:	n/a
16	chr15:42695858-42695908	SK-N-SH_RA	brain:	n/a
17	chr15:42695858-42695908	SAEC	small airway:	n/a
18	chr15:42695858-42695908	SK-N-SH	brain:	n/a
19	chr15:42695858-42695908	K562	blood:	n/a
20	chr15:42695858-42695908	HepG2	liver:	n/a
21	chr15:42695858-42695908	GM12878	blood:	n/a
22	chr15:42695858-42695908	U87	brain:	n/a
23	chr15:42695858-42695908	GM12891	blood:	n/a
24	chr15:42695858-42695908	HCF	heart:	n/a
25	chr15:42695858-42695908	GM12892	blood:	n/a
26	chr15:42695858-42695908	HNPCEpiC	eye:	n/a
27	chr15:42695858-42695908	ProgFib	skin:	n/a
28	chr15:42695858-42695908	GM06990	blood:	n/a
29	chr15:42695858-42695908	Hepatocyte	liver:	n/a
30	chr15:42695858-42695908	BJ	skin:	n/a
31	chr15:42695858-42695908	AG09319	gingival:	n/a
32	chr15:42695858-42695908	Caco-2	colon:	n/a
33	chr15:42695858-42695908	MCF-7	breast:	n/a
34	chr15:42695858-42695908	HCT-116	colon:	n/a
35	chr15:42695858-42695908	LNCaP	prostate:	n/a
36	chr15:42695858-42695908	NH-A	brain:	n/a
37	chr15:42695858-42695908	HL-60	blood:	n/a
38	chr15:42695858-42695908	SK-N-MC	brain:	n/a
39	chr15:42695858-42695908	NHBE	bronchial:	n/a
40	chr15:42695858-42695908	SKMC	muscle:	n/a
41	chr15:42695858-42695908	HEEpiC	esophagus:	n/a
42	chr15:42695858-42695908	PFSK-1	brain:	n/a
43	chr15:42695858-42695908	HCM	heart:	n/a
44	chr15:42695858-42695908	H1-hESC	embryonic stem cell:	embryo
45	chr15:42695858-42695908	NT2-D1	testis:	n/a
46	chr15:42695858-42695908	AoSMC	blood vessel:	n/a
47	chr15:42695858-42695908	PANC-1	pancreas:	n/a
48	chr15:42695858-42695908	HRCEpiC	kidney:	n/a
49	chr15:42695858-42695908	ECC-1	luminal epithelium:	n/a
50	chr15:42695858-42695908	HRPEpiC	eye:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:42693940..42698488-chr15:42698720..42703314,5	K562	blood:

No data

Variant related genes	Relation type
CAPN3	CpG island
ENSG00000092529	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11639355	1.00[YRI][hapmap]
rs16952474	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17708630	1.00[YRI][hapmap]
rs17764737	1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs17765354	1.00[YRI][hapmap]
rs28364433	1.00[GIH][hapmap];0.83[AMR][1000 genomes]
rs28364447	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs28364466	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs28364469	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs28364514	1.00[GIH][hapmap]
rs28364552	1.00[GIH][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs28364553	1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs28364554	1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes]
rs28745878	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3743003	1.00[CEU][hapmap]
rs6493046	0.82[EUR][1000 genomes]
rs730166	1.00[YRI][hapmap];0.92[AMR][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	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
5	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
6	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
7	esv3334708	chr15:42664344-42827738	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:42656800-42697800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr15:42675200-42702800	Weak transcription	Colon Smooth Muscle	Colon
3	chr15:42678600-42706800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr15:42678800-42702800	Weak transcription	NHLF	lung
5	chr15:42679000-42706800	Weak transcription	Right Atrium	heart
6	chr15:42680200-42696400	Weak transcription	HSMMtube	muscle
7	chr15:42683800-42704600	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr15:42689000-42697800	Weak transcription	NHEK	skin
9	chr15:42689000-42712400	Weak transcription	Fetal Brain Male	brain
10	chr15:42689400-42696800	Weak transcription	Psoas Muscle	Psoas
11	chr15:42689400-42703200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr15:42689800-42706600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr15:42690800-42702400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr15:42691000-42703000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr15:42691200-42696000	Strong transcription	Fetal Muscle Leg	muscle
16	chr15:42691200-42696200	Strong transcription	Primary B cells from peripheral blood	blood
17	chr15:42691200-42696400	Strong transcription	Liver	Liver
18	chr15:42691200-42697000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
19	chr15:42691400-42696400	Strong transcription	Primary B cells from cord blood	blood
20	chr15:42691400-42696800	Strong transcription	Duodenum Mucosa	Duodenum
21	chr15:42691400-42697200	Strong transcription	Sigmoid Colon	Sigmoid Colon
22	chr15:42691600-42697400	Strong transcription	Stomach Smooth Muscle	stomach
23	chr15:42692400-42702400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr15:42692600-42702400	Weak transcription	Primary T helper cells fromperipheralblood	blood
25	chr15:42692600-42702400	Weak transcription	Aorta	Aorta
26	chr15:42692600-42708400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr15:42692800-42702800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr15:42693200-42697000	Strong transcription	Fetal Stomach	stomach
29	chr15:42693400-42696000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr15:42693600-42697000	Strong transcription	Adipose Nuclei	Adipose
31	chr15:42693600-42697200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr15:42693600-42703000	Weak transcription	Brain Germinal Matrix	brain
33	chr15:42693800-42696000	Strong transcription	Esophagus	oesophagus
34	chr15:42693800-42696400	Strong transcription	Rectal Mucosa Donor 29	rectum
35	chr15:42693800-42696600	Strong transcription	Ovary	ovary
36	chr15:42693800-42696600	Strong transcription	Placenta Amnion	Placenta Amnion
37	chr15:42693800-42696800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr15:42693800-42696800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr15:42693800-42697000	Strong transcription	Lung	lung
40	chr15:42693800-42697000	Strong transcription	Right Ventricle	heart
41	chr15:42693800-42697200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr15:42694000-42696600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr15:42694000-42696800	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr15:42694000-42703000	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr15:42694200-42702400	Weak transcription	Placenta	Placenta
46	chr15:42694200-42704000	Weak transcription	Small Intestine	intestine
47	chr15:42694400-42696800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr15:42694600-42697400	Genic enhancers	Skeletal Muscle Male	skeletal muscle
49	chr15:42694600-42750600	Strong transcription	Primary neutrophils fromperipheralblood	blood
50	chr15:42694800-42696600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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