Variant report

Variant	rs370616146
Chromosome Location	chr15:72765439-72765440
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:124)
CpG islands
(count:0)
Chromatin interactive
region (count:19)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:124 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr15:72765380-72765530	HVMF	connective:	n/a	n/a
2	CTCF	chr15:72765400-72765550	HRE	kidney:	n/a	n/a
3	CTCF	chr15:72765380-72765530	HMEC	breast:	n/a	n/a
4	POLR2A	chr15:72765298-72767176	SK-N-MC	brain:	n/a	n/a
5	CTCF	chr15:72765400-72765550	HBMEC	blood vessel:	n/a	n/a
6	MAX	chr15:72765355-72768226	A549	lung:	n/a	n/a
7	CTCF	chr15:72765320-72765470	NHDF-neo	bronchial:	n/a	n/a
8	JUND	chr15:72765340-72768137	SK-N-SH	brain:	n/a	chr15:72766104-72766113 chr15:72766289-72766298
9	RAD21	chr15:72765268-72765484	SK-N-SH_RA	brain:	n/a	n/a
10	CTCF	chr15:72765360-72765510	SAEC	small airway:	n/a	n/a
11	CTCF	chr15:72765400-72765550	HCM	heart:	n/a	n/a
12	CTCF	chr15:72765320-72765470	GM12869	blood:	n/a	n/a
13	RAD21	chr15:72765282-72765613	Hela-S3	cervix:	n/a	n/a
14	CTCF	chr15:72765340-72765490	HPF	lung:	n/a	n/a
15	CTCF	chr15:72765400-72765550	WI-38	lung:	n/a	n/a
16	MTA3	chr15:72765400-72766891	GM12878	blood:	n/a	n/a
17	CTCF	chr15:72765257-72765640	IMR90	lung:	n/a	n/a
18	FOSL2	chr15:72765237-72766903	A549	lung:	n/a	chr15:72766104-72766113 chr15:72766289-72766298
19	CTCF	chr15:72765320-72765470	AoAF	blood vessel:	n/a	n/a
20	CTCF	chr15:72765363-72765523	GM12878	blood:	n/a	n/a
21	CTCF	chr15:72765380-72765495	LNCaP	prostate:	n/a	n/a
22	CTCF	chr15:72765363-72765508	Hela-S3	cervix:	n/a	n/a
23	POLR2A	chr15:72765344-72767200	GM12892	blood:	n/a	n/a
24	CTCF	chr15:72765320-72765470	GM12865	blood:	n/a	n/a
25	RAD21	chr15:72765324-72765473	GM12878	blood:	n/a	n/a
26	CTCF	chr15:72765360-72765650	BE2_C	brain:	n/a	n/a
27	CTCF	chr15:72765320-72765470	HCFaa	heart:	n/a	n/a
28	CTCF	chr15:72765300-72765450	NHDF-neo	bronchial:	n/a	n/a
29	CTCF	chr15:72765380-72765530	NHLF	lung:	n/a	n/a
30	REST	chr15:72765139-72768413	H1-neurons	neurons:	n/a	chr15:72767437-72767450 chr15:72767437-72767450 chr15:72767557-72767570
31	CTCF	chr15:72765378-72765472	Medullo	brain:	n/a	n/a
32	CTCF	chr15:72765380-72765530	HEK293	kidney:	n/a	n/a
33	CTCF	chr15:72765340-72765490	AG09319	gingival:	n/a	n/a
34	CTCF	chr15:72765300-72765450	HAc	cerebellar:	n/a	n/a
35	CTCF	chr15:72765300-72765450	AG09309	skin:	n/a	n/a
36	CTCF	chr15:72765340-72765490	GM12873	blood:	n/a	n/a
37	POLR2A	chr15:72765417-72768122	IMR90	lung:	n/a	n/a
38	CTCF	chr15:72765340-72765490	HA-sp	spinal cord:	n/a	n/a
39	POLR2A	chr15:72765345-72767924	GM12892	blood:	n/a	n/a
40	CTCF	chr15:72765360-72765510	RPTEC	kidney:	n/a	n/a
41	CTCF	chr15:72765360-72765650	HRPEpiC	eye:	n/a	n/a
42	CTCF	chr15:72765360-72765510	BJ	skin:	n/a	n/a
43	POLR2A	chr15:72765365-72768126	H1-neurons	neurons:	n/a	n/a
44	CTCF	chr15:72765340-72765490	HPAF	blood vessel:	n/a	n/a
45	CTCF	chr15:72765360-72765510	AG04449	skin:	n/a	n/a
46	POLR2A	chr15:72765264-72768062	H1-hESC	embryonic stem cell:	n/a	n/a
47	POLR2A	chr15:72765392-72768142	GM12878	blood:	n/a	n/a
48	POLR2A	chr15:72765313-72768094	MCF10A-Er-Src	breast:	n/a	n/a
49	CTCF	chr15:72765380-72765530	HMF	breast:	n/a	n/a
50	POLR2A	chr15:72765390-72767182	PANC-1	pancreas:	n/a	n/a

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:72750881..72760234-chr15:72764528..72769120,23	MCF-7	breast:
2	chr15:72692001..72694745-chr15:72764264..72766502,3	MCF-7	breast:
3	chr15:72497804..72499839-chr15:72765083..72768033,2	K562	blood:
4	chr15:72666558..72670735-chr15:72765041..72769475,12	MCF-7	breast:
5	chr15:72765203..72766825-chr15:73342381..73345092,2	MCF-7	breast:
6	chr15:72458549..72461101-chr15:72765178..72767894,2	K562	blood:
7	chr15:72666408..72669827-chr15:72764535..72767754,3	MCF-7	breast:
8	chr15:72520897..72524301-chr15:72765072..72768298,5	K562	blood:
9	chr15:72667344..72672450-chr15:72764755..72768100,8	K562	blood:
10	chr15:72609440..72614186-chr15:72765313..72769259,6	MCF-7	breast:
11	chr15:72765119..72766854-chr2:171784790..171787087,2	K562	blood:
12	chr15:72742962..72745809-chr15:72764358..72766379,2	MCF-7	breast:
13	chr15:72764026..72766932-chr15:72877151..72879938,2	K562	blood:
14	chr15:72764850..72767674-chr15:72977020..72979928,5	K562	blood:
15	chr15:72765370..72766302-chr5:43313191..43314042,2	Hela-S3	cervix:
16	chr15:72476533..72478146-chr15:72764010..72766539,2	MCF-7	breast:
17	chr1:145382332..145383125-chr15:72765176..72765676,2	NB4	blood:
18	chr15:72649215..72653843-chr15:72765321..72768285,4	MCF-7	breast:
19	chr15:72523282..72524844-chr15:72764635..72767200,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HEXA-3	chr15:72761633-72766666	NONHSAT047096

No data

Variant related genes	Relation type
ARIH1	TF binding region
ENSG00000140463	Chromatin interaction
ENSG00000067141	Chromatin interaction
ENSG00000175318	Chromatin interaction
ENSG00000273025	Chromatin interaction
ENSG00000271072	Chromatin interaction
ENSG00000261187	Chromatin interaction
ENSG00000115806	Chromatin interaction
ENSG00000175202	Chromatin interaction
ENSG00000112972	Chromatin interaction
ENSG00000201558	Chromatin interaction
ENSG00000233396	Chromatin interaction
ENSG00000140488	Chromatin interaction
ENSG00000067225	Chromatin interaction
ENSG00000260339	Chromatin interaction
ENSG00000207690	Chromatin interaction
ENSG00000260729	Chromatin interaction
ENSG00000213614	Chromatin interaction
ENSG00000243007	Chromatin interaction

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

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530817	chr15:72350885-72773374	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
2	esv3430860	chr15:72373723-72849907	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	172 gene(s)	inside rSNPs	diseases
3	nsv534037	chr15:72659210-72964029	Weak transcription Genic enhancers Active TSS Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer 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	nsv469704	chr15:72669374-72853927	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
5	nsv482685	chr15:72669374-72853927	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS 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	50 gene(s)	inside rSNPs	diseases
6	nsv1050558	chr15:72739150-72860350	Weak transcription Strong transcription Enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
7	nsv542427	chr15:72739150-72860350	Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
8	nsv827384	chr15:72765222-72768609	Flanking Active TSS Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:72754800-72765600	Weak transcription	Fetal Muscle Trunk	muscle
2	chr15:72755000-72765600	Weak transcription	Left Ventricle	heart
3	chr15:72755000-72766000	Weak transcription	Ovary	ovary
4	chr15:72761000-72766200	Weak transcription	Small Intestine	intestine
5	chr15:72764800-72765600	Enhancers	Primary T cells fromperipheralblood	blood
6	chr15:72764800-72765600	Enhancers	Primary hematopoietic stem cells	blood
7	chr15:72765200-72765600	Enhancers	Primary B cells from peripheral blood	blood
8	chr15:72765200-72765600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr15:72765200-72765600	Enhancers	Fetal Brain Male	brain
10	chr15:72765200-72765600	Enhancers	Fetal Heart	heart
11	chr15:72765200-72765600	Enhancers	Fetal Intestine Small	intestine
12	chr15:72765200-72765800	Flanking Active TSS	A549	lung
13	chr15:72765200-72766000	Flanking Active TSS	Hela-S3	cervix
14	chr15:72765400-72765600	Enhancers	H9 Cell Line	embryonic stem cell
15	chr15:72765400-72765600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr15:72765400-72765600	Enhancers	Primary B cells from cord blood	blood
17	chr15:72765400-72765600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
18	chr15:72765400-72765600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr15:72765400-72765600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
20	chr15:72765400-72765600	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr15:72765400-72765600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr15:72765400-72765600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
23	chr15:72765400-72765600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr15:72765400-72765600	Active TSS	Fetal Brain Female	brain
25	chr15:72765400-72765600	Enhancers	Fetal Intestine Large	intestine
26	chr15:72765400-72765600	Enhancers	Fetal Muscle Leg	muscle
27	chr15:72765400-72765600	Enhancers	Fetal Stomach	stomach
28	chr15:72765400-72765600	Enhancers	Lung	lung
29	chr15:72765400-72765600	Enhancers	Rectal Mucosa Donor 31	rectum
30	chr15:72765400-72765600	Enhancers	Right Ventricle	heart
31	chr15:72765400-72765600	Enhancers	Stomach Mucosa	stomach
32	chr15:72765400-72765600	Enhancers	HUVEC	blood vessel
33	chr15:72765400-72765800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr15:72765400-72765800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr15:72765400-72765800	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr15:72765400-72765800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
37	chr15:72765400-72765800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr15:72765400-72765800	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
39	chr15:72765400-72765800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
40	chr15:72765400-72765800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr15:72765400-72765800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
42	chr15:72765400-72765800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr15:72765400-72765800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
44	chr15:72765400-72765800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr15:72765400-72765800	Enhancers	Primary monocytes fromperipheralblood	blood
46	chr15:72765400-72765800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr15:72765400-72765800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr15:72765400-72765800	Flanking Active TSS	Liver	Liver
49	chr15:72765400-72765800	Flanking Active TSS	Brain Angular Gyrus	brain
50	chr15:72765400-72765800	Flanking Active TSS	Brain Cingulate Gyrus	brain

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