Variant report

Variant	rs73289533
Chromosome Location	chr17:15406241-15406242
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:221)
CpG islands
(count:61)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:221 , 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	CTCF	chr17:15405925-15406653	HCT-116	colon:	n/a	n/a
2	POLR2A	chr17:15406129-15406753	K562	blood:	n/a	n/a
3	YY1	chr17:15406162-15406395	K562	blood:	n/a	n/a
4	CTCF	chr17:15406240-15406390	AG10803	skin:	n/a	n/a
5	CTCF	chr17:15406240-15406390	K562	blood:	n/a	n/a
6	CTCF	chr17:15405955-15406522	IMR90	lung:	n/a	n/a
7	CTCF	chr17:15406240-15406390	GM12864	blood:	n/a	n/a
8	CTCF	chr17:15406051-15406423	HepG2	liver:	n/a	n/a
9	RAD21	chr17:15406074-15406489	A549	lung:	n/a	n/a
10	CTCF	chr17:15406208-15406431	MCF-7	breast:	n/a	n/a
11	CTCF	chr17:15405997-15406555	K562	blood:	n/a	n/a
12	RAD21	chr17:15406013-15406500	SK-N-SH_RA	brain:	n/a	n/a
13	YY1	chr17:15406090-15406469	SK-N-SH_RA	brain:	n/a	n/a
14	CTCF	chr17:15406141-15406634	HCT-116	colon:	n/a	n/a
15	MAX	chr17:15406065-15406430	SK-N-SH	brain:	n/a	n/a
16	CTCF	chr17:15406240-15406390	HCPEpiC	choroid plexus:	n/a	n/a
17	PML	chr17:15406008-15406444	GM12878	blood:	n/a	n/a
18	CTCF	chr17:15406220-15406370	AG09309	skin:	n/a	n/a
19	CTCF	chr17:15406220-15406370	Hela-S3	cervix:	n/a	n/a
20	CTCF	chr17:15406163-15406467	GM19238	blood:	n/a	n/a
21	SMC3	chr17:15406039-15406481	GM12878	blood:	n/a	n/a
22	CTCF	chr17:15406220-15406370	GM12869	blood:	n/a	n/a
23	RAD21	chr17:15406007-15406603	SK-N-SH_RA	brain:	n/a	n/a
24	POLR2A	chr17:15406131-15406503	Hela-S3	cervix:	n/a	n/a
25	CTCF	chr17:15406078-15406515	H1-hESC	embryonic stem cell:	n/a	n/a
26	CTCF	chr17:15406207-15406409	HepG2	liver:	n/a	n/a
27	SPI1	chr17:15406146-15406273	K562	blood:	n/a	n/a
28	CTCF	chr17:15406089-15406720	GM12878	blood:	n/a	n/a
29	CTCF	chr17:15406220-15406370	Caco-2	colon:	n/a	n/a
30	RAD21	chr17:15406133-15406413	K562	blood:	n/a	n/a
31	CTCF	chr17:15406180-15406422	ProgFib	skin:	n/a	n/a
32	SMC3	chr17:15405812-15406689	SK-N-SH	brain:	n/a	n/a
33	RAD21	chr17:15406028-15406549	ECC-1	luminal epithelium:	n/a	n/a
34	CTCF	chr17:15406220-15406370	HUVEC	blood vessel:	n/a	n/a
35	CTCF	chr17:15406164-15406448	LNCaP	prostate:	n/a	n/a
36	RAD21	chr17:15406109-15406509	Hela-S3	cervix:	n/a	n/a
37	RAD21	chr17:15406093-15406509	H1-hESC	embryonic stem cell:	n/a	n/a
38	CTCF	chr17:15406120-15406270	HFF-Myc	foreskin:	n/a	n/a
39	MAX	chr17:15406071-15406730	A549	lung:	n/a	n/a
40	RCOR1	chr17:15406217-15406411	GM12878	blood:	n/a	n/a
41	CTCF	chr17:15406175-15406381	SK-N-SH_RA	brain:	n/a	n/a
42	CTCF	chr17:15406172-15406445	Lung_OC	lung:	n/a	n/a
43	CTCF	chr17:15406121-15406377	ECC-1	luminal epithelium:	n/a	n/a
44	CTCF	chr17:15406220-15406370	HCFaa	heart:	n/a	n/a
45	ZNF143	chr17:15406085-15406447	K562	blood:	n/a	n/a
46	SPI1	chr17:15406088-15406362	GM12891	blood:	n/a	n/a
47	CTCF	chr17:15406220-15406370	HBMEC	blood vessel:	n/a	n/a
48	RAD21	chr17:15405970-15406622	MCF-7	breast:	n/a	n/a
49	CTCF	chr17:15406194-15406432	K562	blood:	n/a	n/a
50	CTCF	chr17:15406220-15406370	HEK293	kidney:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr17:15406213-15406263	HRE	kidney:	n/a
2	chr17:15406213-15406263	A549	lung:	n/a
3	chr17:15406213-15406263	HRPEpiC	eye:	n/a
4	chr17:15406213-15406263	NT2-D1	testis:	n/a
5	chr17:15406213-15406263	SK-N-SH	brain:	n/a
6	chr17:15406213-15406263	HRCEpiC	kidney:	n/a
7	chr17:15406213-15406263	SKMC	muscle:	n/a
8	chr17:15406213-15406263	BJ	skin:	n/a
9	chr17:15406213-15406263	MCF-7	breast:	n/a
10	chr17:15406213-15406263	H1-hESC	embryonic stem cell:	embryo
11	chr17:15406213-15406263	SAEC	small airway:	n/a
12	chr17:15406213-15406263	HL-60	blood:	n/a
13	chr17:15406213-15406263	SK-N-MC	brain:	n/a
14	chr17:15406213-15406263	AG10803	skin:	n/a
15	chr17:15406213-15406263	HNPCEpiC	eye:	n/a
16	chr17:15406213-15406263	HUVEC	blood vessel:	n/a
17	chr17:15406213-15406263	HIPEpiC	eye:	n/a
18	chr17:15406213-15406263	Caco-2	colon:	n/a
19	chr17:15406213-15406263	ECC-1	luminal epithelium:	n/a
20	chr17:15406213-15406263	ProgFib	skin:	n/a
21	chr17:15406213-15406263	PrEC	prostate:	n/a
22	chr17:15406213-15406263	BE2_C	brain:	n/a
23	chr17:15406213-15406263	T-47D	breast:	n/a
24	chr17:15406213-15406263	ovcar-3	ovarian:	n/a
25	chr17:15406213-15406263	GM19239	blood:	n/a
26	chr17:15406213-15406263	HCT-116	colon:	n/a
27	chr17:15406213-15406263	AG04450	lung:	fetal
28	chr17:15406213-15406263	GM12892	blood:	n/a
29	chr17:15406213-15406263	Hepatocyte	liver:	n/a
30	chr17:15406213-15406263	CMK	blood:	n/a
31	chr17:15406213-15406263	RPTEC	kidney:	n/a
32	chr17:15406213-15406263	NHBE	bronchial:	n/a
33	chr17:15406213-15406263	NB4	blood:	n/a
34	chr17:15406213-15406263	GM12878	blood:	n/a
35	chr17:15406213-15406263	SK-N-SH_RA	brain:	n/a
36	chr17:15406213-15406263	HMEC	breast:	n/a
37	chr17:15406213-15406263	Jurkat	blood:	n/a
38	chr17:15406213-15406263	PANC-1	pancreas:	n/a
39	chr17:15406213-15406263	HEEpiC	esophagus:	n/a
40	chr17:15406213-15406263	HPAEpiC	pulmonary alveolar:	n/a
41	chr17:15406213-15406263	PFSK-1	brain:	n/a
42	chr17:15406213-15406263	AoSMC	blood vessel:	n/a
43	chr17:15406213-15406263	HepG2	liver:	n/a
44	chr17:15406213-15406263	GM12891	blood:	n/a
45	chr17:15406213-15406263	HCM	heart:	n/a
46	chr17:15406213-15406263	U87	brain:	n/a
47	chr17:15406213-15406263	HAEpiC	amniotic membrane:	n/a
48	chr17:15406213-15406263	HCF	heart:	n/a
49	chr17:15406213-15406263	Hela-S3	cervix:	n/a
50	chr17:15406213-15406263	AG04449	skin:	fetal

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:15164289..15164844-chr17:15406132..15406721,2	K562	blood:
2	chr17:15160379..15161319-chr17:15405087..15406751,8	MCF-7	breast:
3	chr17:15165016..15165581-chr17:15405777..15406684,2	MCF-7	breast:
4	chr17:15163427..15164223-chr17:15405796..15406340,2	K562	blood:
5	chr17:15163915..15164727-chr17:15406027..15406796,2	MCF-7	breast:
6	chr17:15398558..15401467-chr17:15403715..15406504,4	K562	blood:
7	chr17:15339768..15340717-chr17:15405925..15406718,2	K562	blood:
8	chr17:15151336..15152140-chr17:15405875..15406419,3	MCF-7	breast:
9	chr17:15160307..15161319-chr17:15405440..15406372,3	MCF-7	breast:
10	chr17:15398558..15401467-chr17:15404011..15406504,2	K562	blood:
11	chr17:15162964..15164800-chr17:15405391..15407046,14	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000223878	TF binding region
ENSG00000223878	CpG island
ENSG00000265445	Chromatin interaction
ENSG00000109099	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs57319180	1.00[AMR][1000 genomes]
rs58362356	1.00[AMR][1000 genomes]
rs59115616	1.00[AMR][1000 genomes]
rs61432365	1.00[AMR][1000 genomes]
rs73289511	1.00[AMR][1000 genomes]
rs73289516	1.00[AMR][1000 genomes]
rs73289536	1.00[AMR][1000 genomes]
rs73289546	1.00[AMR][1000 genomes]
rs73289550	1.00[AMR][1000 genomes]
rs73289556	1.00[AMR][1000 genomes]
rs73978052	1.00[AMR][1000 genomes]
rs73978055	1.00[AMR][1000 genomes]
rs8067344	1.00[AMR][1000 genomes]

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	nsv492304	chr17:15043353-15611753	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv916652	chr17:15093600-15856310	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
3	nsv427990	chr17:15154329-15434020	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv949172	chr17:15206970-15416808	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
5	nsv1055677	chr17:15294011-15561130	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
6	nsv1059056	chr17:15294011-15856861	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
7	nsv1058286	chr17:15315763-15561130	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers 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	33 gene(s)	inside rSNPs	diseases
8	nsv543213	chr17:15315763-15561130	Weak transcription Enhancers Genic enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:15377400-15406400	Weak transcription	Primary T helper cells PMA-I stimulated	--
2	chr17:15383200-15419600	Weak transcription	Thymus	Thymus
3	chr17:15383400-15455000	Weak transcription	Gastric	stomach
4	chr17:15385600-15418000	Weak transcription	Pancreas	Pancrea
5	chr17:15387200-15417000	Weak transcription	Small Intestine	intestine
6	chr17:15393400-15451200	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr17:15394600-15406400	Weak transcription	Stomach Mucosa	stomach
8	chr17:15394600-15417000	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr17:15394800-15450800	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr17:15395000-15410200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr17:15395400-15413400	Weak transcription	Hela-S3	cervix
12	chr17:15396000-15417200	Weak transcription	Fetal Brain Male	brain
13	chr17:15396800-15420400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr17:15398800-15408800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr17:15399000-15408800	Strong transcription	HepG2	liver
16	chr17:15400800-15413000	Weak transcription	NH-A	brain
17	chr17:15401200-15420400	Weak transcription	Psoas Muscle	Psoas
18	chr17:15402800-15410200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr17:15403000-15410200	Weak transcription	Fetal Brain Female	brain
20	chr17:15404600-15406400	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr17:15404600-15406800	Enhancers	Fetal Kidney	kidney
22	chr17:15404600-15406800	Enhancers	HUVEC	blood vessel
23	chr17:15405000-15406800	Enhancers	Esophagus	oesophagus
24	chr17:15405000-15406800	Enhancers	Spleen	Spleen
25	chr17:15405200-15406600	Enhancers	Rectal Mucosa Donor 31	rectum
26	chr17:15405200-15406800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr17:15405400-15406400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr17:15405400-15406600	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr17:15405400-15406600	Enhancers	Fetal Heart	heart
30	chr17:15405400-15406800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr17:15405400-15410200	Weak transcription	Primary T cells from cord blood	blood
32	chr17:15405400-15418200	Weak transcription	Duodenum Mucosa	Duodenum
33	chr17:15405400-15419000	Weak transcription	Liver	Liver
34	chr17:15405600-15406400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr17:15405600-15406400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
36	chr17:15405600-15406400	Flanking Active TSS	Osteobl	bone
37	chr17:15405600-15406600	Enhancers	Primary hematopoietic stem cells	blood
38	chr17:15405600-15406600	Enhancers	Primary hematopoietic stem cells short term culture	blood
39	chr17:15405600-15410200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr17:15405600-15411200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr17:15405800-15406400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr17:15405800-15406400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr17:15405800-15406600	Enhancers	HUES48 Cell Line	embryonic stem cell
44	chr17:15405800-15406600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr17:15405800-15406600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr17:15405800-15406800	Enhancers	H9 Cell Line	embryonic stem cell
47	chr17:15405800-15406800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
48	chr17:15405800-15406800	Enhancers	Primary B cells from peripheral blood	blood
49	chr17:15405800-15406800	Enhancers	Primary T cells fromperipheralblood	blood
50	chr17:15405800-15406800	Enhancers	Placenta	Placenta

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