Variant report

Variant	rs7165452
Chromosome Location	chr15:40322548-40322549
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:138)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:138 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr15:40322540-40322690	HCFaa	heart:	n/a	n/a
2	RAD21	chr15:40322491-40322839	HCT-116	colon:	n/a	n/a
3	CTCF	chr15:40322509-40322731	Hela-S3	cervix:	n/a	n/a
4	CTCF	chr15:40322520-40322732	GM19239	blood:	n/a	n/a
5	CTCF	chr15:40322514-40322730	GM12891	blood:	n/a	n/a
6	MAZ	chr15:40322508-40322725	K562	blood:	n/a	n/a
7	RAD21	chr15:40322463-40322821	H1-hESC	embryonic stem cell:	n/a	n/a
8	CTCF	chr15:40322540-40322690	HEK293	kidney:	n/a	n/a
9	CTCF	chr15:40322421-40322811	H1-hESC	embryonic stem cell:	n/a	n/a
10	CTCF	chr15:40322540-40322690	AoAF	blood vessel:	n/a	n/a
11	CTCF	chr15:40322500-40322742	ProgFib	skin:	n/a	n/a
12	CTCF	chr15:40322540-40322690	GM12875	blood:	n/a	n/a
13	RAD21	chr15:40322497-40322889	MCF-7	breast:	n/a	n/a
14	CTCF	chr15:40322425-40322795	K562	blood:	n/a	n/a
15	CTCF	chr15:40322520-40322670	GM12871	blood:	n/a	n/a
16	RAD21	chr15:40322268-40323100	SK-N-SH	brain:	n/a	n/a
17	CTCF	chr15:40322433-40322851	HepG2	liver:	n/a	n/a
18	CTCF	chr15:40322540-40322690	K562	blood:	n/a	n/a
19	RAD21	chr15:40322327-40322888	H1-hESC	embryonic stem cell:	n/a	n/a
20	CTCF	chr15:40322505-40322742	GM19238	blood:	n/a	n/a
21	CTCF	chr15:40322528-40322726	MCF-7	breast:	n/a	n/a
22	CTCF	chr15:40322540-40322690	WI-38	lung:	n/a	n/a
23	RAD21	chr15:40322398-40322833	A549	lung:	n/a	n/a
24	CTCF	chr15:40322466-40322792	H1-hESC	embryonic stem cell:	n/a	n/a
25	CTCF	chr15:40322540-40322690	AG04449	skin:	n/a	n/a
26	CTCF	chr15:40322540-40322690	RPTEC	kidney:	n/a	n/a
27	CTCF	chr15:40322487-40322761	HUVEC	blood vessel:	n/a	n/a
28	CTCF	chr15:40322480-40322630	GM12866	blood:	n/a	n/a
29	CTCF	chr15:40322540-40322690	GM12867	blood:	n/a	n/a
30	CTCF	chr15:40322540-40322690	BJ	skin:	n/a	n/a
31	CTCF	chr15:40322481-40322758	Spleen_OC	spleen:	n/a	n/a
32	CTCF	chr15:40322540-40322690	HAc	cerebellar:	n/a	n/a
33	CTCF	chr15:40322480-40322630	HEK293	kidney:	n/a	n/a
34	CTCF	chr15:40322540-40322690	HBMEC	blood vessel:	n/a	n/a
35	RAD21	chr15:40322360-40322878	HCT-116	colon:	n/a	n/a
36	CTCF	chr15:40322522-40322726	MCF-7	breast:	n/a	n/a
37	CTCF	chr15:40322460-40322610	HFF-Myc	foreskin:	n/a	n/a
38	CTCF	chr15:40322520-40322670	WI-38	lung:	n/a	n/a
39	RAD21	chr15:40322529-40322666	K562	blood:	n/a	n/a
40	CTCF	chr15:40322474-40322748	HepG2	liver:	n/a	n/a
41	CTCF	chr15:40322517-40322738	GM20000	blood:	n/a	n/a
42	CTCF	chr15:40322520-40322670	GM12867	blood:	n/a	n/a
43	CTCF	chr15:40322540-40322690	HVMF	connective:	n/a	n/a
44	CTCF	chr15:40322540-40322690	NHEK	skin:	n/a	n/a
45	CTCF	chr15:40322540-40322690	AG09309	skin:	n/a	n/a
46	CTCF	chr15:40322517-40322729	MCF-7	breast:	n/a	n/a
47	CTCF	chr15:40322540-40322690	GM12873	blood:	n/a	n/a
48	CTCF	chr15:40322500-40322650	GM12878	blood:	n/a	n/a
49	CTCF	chr15:40322516-40322743	HepG2	liver:	n/a	n/a
50	CTCF	chr15:40322480-40322630	GM12872	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:40321938..40324558-chr15:40397349..40402797,4	MCF-7	breast:
2	chr15:40320931..40323149-chr15:40329689..40332182,2	MCF-7	breast:

No data

Variant related genes	Relation type
EIF2AK4	TF binding region
ENSG00000248508	Chromatin interaction
ENSG00000140319	Chromatin interaction
ENSG00000104081	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1017842	1.00[AMR][1000 genomes]
rs12050584	1.00[AMR][1000 genomes]
rs2412455	1.00[AMR][1000 genomes]
rs2412461	1.00[AMR][1000 genomes]
rs2640644	1.00[AMR][1000 genomes]
rs2898983	1.00[AMR][1000 genomes]
rs2917838	1.00[AMR][1000 genomes]
rs2934195	1.00[AMR][1000 genomes]
rs472530	1.00[AMR][1000 genomes]
rs503775	1.00[AMR][1000 genomes]
rs508280	1.00[AMR][1000 genomes]
rs509966	1.00[AMR][1000 genomes]
rs514394	1.00[AMR][1000 genomes]
rs535400	1.00[AMR][1000 genomes]
rs544070	1.00[AMR][1000 genomes]
rs571256	1.00[AMR][1000 genomes]
rs578429	1.00[AMR][1000 genomes]
rs58030495	1.00[AMR][1000 genomes]
rs581167	1.00[AMR][1000 genomes]
rs61523420	1.00[AMR][1000 genomes]
rs7173708	1.00[AMR][1000 genomes]
rs7174465	1.00[AMR][1000 genomes]
rs73389528	1.00[AMR][1000 genomes]
rs8042413	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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	nsv428635	chr15:40274500-40436293	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40228200-40323800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr15:40296400-40325200	Weak transcription	Hela-S3	cervix
3	chr15:40303000-40329600	Strong transcription	Liver	Liver
4	chr15:40305200-40330200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr15:40306800-40328800	Weak transcription	Stomach Mucosa	stomach
6	chr15:40306800-40329800	Strong transcription	Osteobl	bone
7	chr15:40307000-40329000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr15:40307000-40329400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr15:40307200-40329600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr15:40307400-40326800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr15:40307400-40329600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr15:40307600-40326200	Strong transcription	HSMM	muscle
13	chr15:40307600-40329200	Strong transcription	H9 Cell Line	embryonic stem cell
14	chr15:40307600-40329200	Strong transcription	HMEC	breast
15	chr15:40307800-40329600	Strong transcription	NH-A	brain
16	chr15:40307800-40330000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
17	chr15:40308000-40329000	Strong transcription	HepG2	liver
18	chr15:40308000-40329600	Strong transcription	HUES64 Cell Line	embryonic stem cell
19	chr15:40308000-40329800	Strong transcription	NHDF-Ad	bronchial
20	chr15:40308000-40330000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
21	chr15:40308200-40329600	Strong transcription	H1 Cell Line	embryonic stem cell
22	chr15:40308600-40328800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr15:40308600-40330000	Strong transcription	HUES6 Cell Line	embryonic stem cell
24	chr15:40308800-40330000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr15:40309200-40329600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr15:40310000-40326400	Strong transcription	Muscle Satellite Cultured Cells	--
27	chr15:40310000-40329200	Strong transcription	Skeletal Muscle Female	skeletal muscle
28	chr15:40310000-40329400	Strong transcription	Duodenum Smooth Muscle	Duodenum
29	chr15:40310000-40330000	Strong transcription	Rectal Mucosa Donor 31	rectum
30	chr15:40310600-40328800	Strong transcription	Primary T helper cells fromperipheralblood	blood
31	chr15:40310600-40329800	Strong transcription	Primary neutrophils fromperipheralblood	blood
32	chr15:40310600-40330000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr15:40310600-40330000	Strong transcription	Rectal Mucosa Donor 29	rectum
34	chr15:40312400-40324400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr15:40312400-40324400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr15:40313600-40329200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr15:40313600-40329800	Strong transcription	HUES48 Cell Line	embryonic stem cell
38	chr15:40313800-40324200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr15:40313800-40326200	Weak transcription	Small Intestine	intestine
40	chr15:40314000-40324600	Weak transcription	Fetal Brain Male	brain
41	chr15:40314000-40329600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr15:40314000-40330400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr15:40314200-40324400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
44	chr15:40314200-40324600	Strong transcription	Adipose Nuclei	Adipose
45	chr15:40315000-40324400	Weak transcription	Pancreas	Pancrea
46	chr15:40315000-40328400	Weak transcription	Aorta	Aorta
47	chr15:40315000-40329600	Strong transcription	Primary monocytes fromperipheralblood	blood
48	chr15:40315000-40329800	Strong transcription	Monocytes-CD14+_RO01746	blood
49	chr15:40315000-40330000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr15:40315400-40323800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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