Variant report

Variant	rs7162104
Chromosome Location	chr15:40209829-40209830
allele	A/G
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:3)
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	chr15:40209828-40209878	GM19239	blood:	n/a
2	chr15:40209828-40209878	NHDF-neo	bronchial:	n/a
3	chr15:40209828-40209878	HCT-116	colon:	n/a
4	chr15:40209828-40209878	HMEC	breast:	n/a
5	chr15:40209828-40209878	A549	lung:	n/a
6	chr15:40209828-40209878	ovcar-3	ovarian:	n/a
7	chr15:40209828-40209878	AoSMC	blood vessel:	n/a
8	chr15:40209828-40209878	HCF	heart:	n/a
9	chr15:40209828-40209878	HPAEpiC	pulmonary alveolar:	n/a
10	chr15:40209828-40209878	AG09309	skin:	n/a
11	chr15:40209828-40209878	MCF10A-Er-Src	breast:	n/a
12	chr15:40209828-40209878	GM12891	blood:	n/a
13	chr15:40209828-40209878	AG04450	lung:	fetal
14	chr15:40209828-40209878	Hepatocyte	liver:	n/a
15	chr15:40209828-40209878	BE2_C	brain:	n/a
16	chr15:40209828-40209878	Caco-2	colon:	n/a
17	chr15:40209828-40209878	U87	brain:	n/a
18	chr15:40209828-40209878	IMR90	lung:	fetal
19	chr15:40209828-40209878	SAEC	small airway:	n/a
20	chr15:40209828-40209878	ECC-1	luminal epithelium:	n/a
21	chr15:40209828-40209878	RPTEC	kidney:	n/a
22	chr15:40209828-40209878	HRPEpiC	eye:	n/a
23	chr15:40209828-40209878	NB4	blood:	n/a
24	chr15:40209828-40209878	MCF-7	breast:	n/a
25	chr15:40209828-40209878	NT2-D1	testis:	n/a
26	chr15:40209828-40209878	HCM	heart:	n/a
27	chr15:40209828-40209878	HRE	kidney:	n/a
28	chr15:40209828-40209878	SK-N-MC	brain:	n/a
29	chr15:40209828-40209878	GM12892	blood:	n/a
30	chr15:40209828-40209878	PANC-1	pancreas:	n/a
31	chr15:40209828-40209878	AG09319	gingival:	n/a
32	chr15:40209828-40209878	HUVEC	blood vessel:	n/a
33	chr15:40209828-40209878	Hela-S3	cervix:	n/a
34	chr15:40209828-40209878	NH-A	brain:	n/a
35	chr15:40209828-40209878	CMK	blood:	n/a
36	chr15:40209828-40209878	NHBE	bronchial:	n/a
37	chr15:40209828-40209878	SKMC	muscle:	n/a
38	chr15:40209828-40209878	AG04449	skin:	fetal
39	chr15:40209828-40209878	BJ	skin:	n/a
40	chr15:40209828-40209878	HEK293	kidney:	embryo
41	chr15:40209828-40209878	HNPCEpiC	eye:	n/a
42	chr15:40209828-40209878	HRCEpiC	kidney:	n/a
43	chr15:40209828-40209878	HL-60	blood:	n/a
44	chr15:40209828-40209878	SK-N-SH	brain:	n/a
45	chr15:40209828-40209878	H1-hESC	embryonic stem cell:	embryo
46	chr15:40209828-40209878	HEEpiC	esophagus:	n/a
47	chr15:40209828-40209878	PFSK-1	brain:	n/a
48	chr15:40209828-40209878	K562	blood:	n/a
49	chr15:40209828-40209878	SK-N-SH_RA	brain:	n/a
50	chr15:40209828-40209878	HIPEpiC	eye:	n/a

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:40208428..40210634-chr15:40211145..40212897,2	K562	blood:
2	chr15:40208007..40210533-chr15:40211533..40213154,3	MCF-7	breast:
3	chr15:40209081..40211622-chr15:40223398..40225588,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000246863	CpG island
ENSG00000166073	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs1808784	1.00[AMR][1000 genomes]
rs7163303	1.00[AMR][1000 genomes]
rs7184017	1.00[AMR][1000 genomes]
rs8030203	1.00[AMR][1000 genomes]
rs9744395	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530816	chr15:40003136-40586792	Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	nsv832979	chr15:40041928-40218407	Genic enhancers Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv832983	chr15:40098766-40248839	Genic enhancers Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40194600-40211000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr15:40197200-40210200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr15:40199800-40211800	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr15:40200600-40210400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr15:40201400-40211600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr15:40201600-40210200	Weak transcription	HMEC	breast
7	chr15:40201600-40210200	Weak transcription	HUVEC	blood vessel
8	chr15:40201600-40210400	Weak transcription	Aorta	Aorta
9	chr15:40201800-40210200	Weak transcription	HSMMtube	muscle
10	chr15:40201800-40210400	Weak transcription	NHEK	skin
11	chr15:40202600-40210400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr15:40202800-40210200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr15:40203000-40210400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr15:40204000-40210000	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr15:40204000-40210200	Weak transcription	NH-A	brain
16	chr15:40207400-40210000	Strong transcription	HSMM	muscle
17	chr15:40208200-40210000	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr15:40209000-40210000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr15:40209000-40210200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr15:40209000-40212400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr15:40209200-40210200	Active TSS	iPS-20b Cell Line	embryonic stem cell
22	chr15:40209200-40210200	Weak transcription	Osteobl	bone
23	chr15:40209200-40210400	Active TSS	HUES64 Cell Line	embryonic stem cell
24	chr15:40209200-40210800	Active TSS	iPS-18 Cell Line	embryonic stem cell
25	chr15:40209200-40213400	Active TSS	HUES48 Cell Line	embryonic stem cell
26	chr15:40209200-40213800	Active TSS	iPS-15b Cell Line	embryonic stem cell
27	chr15:40209400-40210000	Weak transcription	NHLF	lung
28	chr15:40209400-40210200	Weak transcription	NHDF-Ad	bronchial
29	chr15:40209600-40210200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr15:40209800-40210000	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr15:40209800-40210200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr15:40209800-40210200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr15:40209800-40210400	Active TSS	HUES6 Cell Line	embryonic stem cell
34	chr15:40209800-40211000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr15:40209800-40213800	Active TSS	H1 Cell Line	embryonic stem cell

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