Variant report

Variant	rs68063243
Chromosome Location	chr15:40613242-40613243
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:220)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:220 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	PML	chr15:40612986-40613529	GM12878	blood:	n/a	n/a
2	CTCF	chr15:40613180-40613330	GM12873	blood:	n/a	n/a
3	CTCF	chr15:40613180-40613330	HFF-Myc	foreskin:	n/a	n/a
4	CTCF	chr15:40613200-40613350	GM12870	blood:	n/a	n/a
5	CTCF	chr15:40612874-40613709	A549	lung:	n/a	n/a
6	CTCF	chr15:40612979-40613563	MCF-7	breast:	n/a	n/a
7	ZNF143	chr15:40613097-40613456	K562	blood:	n/a	n/a
8	CTCF	chr15:40612510-40613754	SK-N-SH	brain:	n/a	chr15:40612682-40612695
9	CTCF	chr15:40613200-40613350	HEK293	kidney:	n/a	n/a
10	CTCF	chr15:40613180-40613330	AG04450	lung:	n/a	n/a
11	CTCF	chr15:40613200-40613350	GM12864	blood:	n/a	n/a
12	CTCF	chr15:40613160-40613310	HFF-Myc	foreskin:	n/a	n/a
13	RAD21	chr15:40613013-40613617	HCT-116	colon:	n/a	n/a
14	CTCF	chr15:40613180-40613330	HCPEpiC	choroid plexus:	n/a	n/a
15	CTCF	chr15:40613180-40613330	HPF	lung:	n/a	n/a
16	CTCF	chr15:40613140-40613290	A549	lung:	n/a	n/a
17	MAZ	chr15:40613209-40613523	GM12878	blood:	n/a	n/a
18	CTCF	chr15:40613135-40613408	LNCaP	prostate:	n/a	n/a
19	CTCF	chr15:40613200-40613350	BJ	skin:	n/a	n/a
20	CTCF	chr15:40612990-40613439	Spleen_OC	spleen:	n/a	n/a
21	CTCF	chr15:40613180-40613330	SAEC	small airway:	n/a	n/a
22	EBF1	chr15:40613111-40613336	GM12878	blood:	n/a	n/a
23	POLR2A	chr15:40613159-40613761	H1-neurons	neurons:	n/a	n/a
24	WRNIP1	chr15:40613105-40613355	GM12878	blood:	n/a	n/a
25	MYC	chr15:40613138-40613399	K562	blood:	n/a	n/a
26	SMC3	chr15:40612947-40613486	GM12878	blood:	n/a	n/a
27	CTCF	chr15:40613220-40613370	HMF	breast:	n/a	n/a
28	CTCF	chr15:40613024-40613456	K562	blood:	n/a	n/a
29	UBTF	chr15:40613186-40613421	K562	blood:	n/a	n/a
30	CTCF	chr15:40613220-40613370	WERI-Rb-1	eye:	n/a	n/a
31	CTCF	chr15:40613128-40613426	GM12878	blood:	n/a	n/a
32	CTCF	chr15:40612986-40613488	K562	blood:	n/a	n/a
33	CTCF	chr15:40613180-40613330	GM12866	blood:	n/a	n/a
34	CTCFL	chr15:40613146-40613344	K562	blood:	n/a	n/a
35	CTCF	chr15:40613180-40613330	AoAF	blood vessel:	n/a	n/a
36	CTCF	chr15:40613200-40613278	MCF-7	breast:	n/a	n/a
37	CTCF	chr15:40613054-40613478	IMR90	lung:	n/a	n/a
38	CTCF	chr15:40613240-40613390	RPTEC	kidney:	n/a	n/a
39	CTCF	chr15:40613240-40613390	A549	lung:	n/a	n/a
40	RAD21	chr15:40612983-40613734	SK-N-SH	brain:	n/a	n/a
41	CTCF	chr15:40613180-40613330	HepG2	liver:	n/a	n/a
42	CTCF	chr15:40613137-40613400	Hela-S3	cervix:	n/a	n/a
43	RAD21	chr15:40613022-40613460	IMR90	lung:	n/a	n/a
44	CTCF	chr15:40613180-40613330	BJ	skin:	n/a	n/a
45	CTCF	chr15:40613200-40613350	GM12875	blood:	n/a	n/a
46	MYC	chr15:40613180-40613483	H1-hESC	embryonic stem cell:	n/a	n/a
47	CTCF	chr15:40613200-40613350	AG04450	lung:	n/a	n/a
48	CTCF	chr15:40613155-40613338	A549	lung:	n/a	n/a
49	CTCF	chr15:40613015-40613458	H1-hESC	embryonic stem cell:	n/a	n/a
50	CTCF	chr15:40613220-40613370	HUVEC	blood vessel:	n/a	n/a

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:40612389..40614304-chr15:40626844..40628895,2	K562	blood:
2	chr15:40607352..40610567-chr15:40611377..40615529,4	MCF-7	breast:
3	chr15:40606578..40610704-chr15:40612489..40616999,9	K562	blood:
4	chr15:40612729..40613719-chr15:40629895..40630922,7	MCF-7	breast:
5	chr15:40612824..40613750-chr15:40629921..40630861,4	K562	blood:
6	chr15:40612777..40613773-chr15:40714225..40715251,3	K562	blood:
7	chr15:40611920..40613859-chr15:40613927..40615590,2	K562	blood:
8	chr15:40609528..40613420-chr15:40614090..40617606,5	K562	blood:
9	chr15:40606578..40609257-chr15:40612890..40617072,4	K562	blood:
10	chr15:40613045..40613813-chr15:40713861..40714401,2	MCF-7	breast:
11	chr15:40612862..40613690-chr15:40659799..40660373,2	MCF-7	breast:
12	chr15:40329590..40332375-chr15:40611438..40613326,2	K562	blood:

No data

Variant related genes	Relation type
LINC00984	TF binding region
ENSG00000248508	Chromatin interaction
ENSG00000188549	Chromatin interaction
ENSG00000259330	Chromatin interaction
ENSG00000140319	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs10163093	0.81[ASN][1000 genomes]
rs11635059	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34513772	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34145	chr15:40549617-40889824	Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv510660	chr15:40552906-40721883	Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
3	esv1850798	chr15:40560607-40622191	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv827305	chr15:40596162-40625922	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40584200-40614800	Weak transcription	Gastric	stomach
2	chr15:40600000-40614600	Weak transcription	Brain Substantia Nigra	brain
3	chr15:40602000-40614600	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr15:40602600-40614600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr15:40606000-40615200	Weak transcription	Psoas Muscle	Psoas
6	chr15:40606600-40615000	Weak transcription	Colonic Mucosa	Colon
7	chr15:40607400-40614600	Weak transcription	Hela-S3	cervix
8	chr15:40607600-40614600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr15:40607800-40614200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr15:40607800-40614200	Weak transcription	HMEC	breast
11	chr15:40608000-40614600	Weak transcription	HSMM	muscle
12	chr15:40608000-40615000	Weak transcription	Primary hematopoietic stem cells	blood
13	chr15:40609400-40614400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr15:40610600-40614800	Weak transcription	GM12878-XiMat	blood
15	chr15:40610800-40614200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr15:40612000-40613400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr15:40612000-40613400	Enhancers	Placenta	Placenta
18	chr15:40612200-40613600	Enhancers	HSMMtube	muscle
19	chr15:40612400-40614600	Enhancers	HepG2	liver
20	chr15:40612400-40615600	Enhancers	Fetal Heart	heart
21	chr15:40612600-40613400	Enhancers	Spleen	Spleen
22	chr15:40612600-40613800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr15:40612600-40614400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr15:40612600-40615000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr15:40612800-40613600	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
26	chr15:40612800-40613600	Enhancers	Duodenum Smooth Muscle	Duodenum
27	chr15:40612800-40613600	Enhancers	HUVEC	blood vessel
28	chr15:40612800-40614200	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr15:40613000-40613400	Weak transcription	Primary B cells from cord blood	blood
30	chr15:40613000-40613600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
31	chr15:40613000-40613600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
32	chr15:40613000-40613600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr15:40613000-40613600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
34	chr15:40613000-40613600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
35	chr15:40613000-40613800	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
36	chr15:40613000-40614000	Enhancers	Primary T helper cells fromperipheralblood	blood
37	chr15:40613000-40614600	Enhancers	Stomach Smooth Muscle	stomach
38	chr15:40613000-40614800	Enhancers	Colon Smooth Muscle	Colon
39	chr15:40613000-40615000	Enhancers	Primary hematopoietic stem cells short term culture	blood
40	chr15:40613000-40615200	Enhancers	Primary T killer memory cells from peripheral blood	blood
41	chr15:40613000-40615200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr15:40613200-40613400	Enhancers	Primary monocytes fromperipheralblood	blood
43	chr15:40613200-40613400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
44	chr15:40613200-40613600	Enhancers	Primary T helper cells PMA-I stimulated	--
45	chr15:40613200-40613600	Enhancers	Fetal Muscle Leg	muscle
46	chr15:40613200-40614200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr15:40613200-40614200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr15:40613200-40614200	Weak transcription	Pancreas	Pancrea
49	chr15:40613200-40614400	Weak transcription	Rectal Smooth Muscle	rectum
50	chr15:40613200-40614400	Weak transcription	Right Ventricle	heart

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