Variant report

Variant	rs59631163
Chromosome Location	chr17:15406486-15406487
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:64)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:64 , 50 per page) page: 1 2

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	CTCF	chr17:15405955-15406522	IMR90	lung:	n/a	n/a
4	RAD21	chr17:15406074-15406489	A549	lung:	n/a	n/a
5	ARID3A	chr17:15406294-15406544	K562	blood:	n/a	n/a
6	CTCF	chr17:15405997-15406555	K562	blood:	n/a	n/a
7	RAD21	chr17:15406013-15406500	SK-N-SH_RA	brain:	n/a	n/a
8	CTCF	chr17:15406141-15406634	HCT-116	colon:	n/a	n/a
9	RAD21	chr17:15406007-15406603	SK-N-SH_RA	brain:	n/a	n/a
10	POLR2A	chr17:15406131-15406503	Hela-S3	cervix:	n/a	n/a
11	CTCF	chr17:15406078-15406515	H1-hESC	embryonic stem cell:	n/a	n/a
12	CTCF	chr17:15406089-15406720	GM12878	blood:	n/a	n/a
13	SMC3	chr17:15405812-15406689	SK-N-SH	brain:	n/a	n/a
14	RAD21	chr17:15406028-15406549	ECC-1	luminal epithelium:	n/a	n/a
15	RAD21	chr17:15406109-15406509	Hela-S3	cervix:	n/a	n/a
16	RAD21	chr17:15406093-15406509	H1-hESC	embryonic stem cell:	n/a	n/a
17	MAX	chr17:15406071-15406730	A549	lung:	n/a	n/a
18	RAD21	chr17:15405970-15406622	MCF-7	breast:	n/a	n/a
19	POLR2A	chr17:15405279-15408288	K562	blood:	n/a	n/a
20	STAT3	chr17:15406193-15406546	MCF10A-Er-Src	breast:	n/a	n/a
21	CREB1	chr17:15406090-15406528	A549	lung:	n/a	n/a
22	PML	chr17:15406132-15406530	MCF-7	breast:	n/a	n/a
23	E2F6	chr17:15406140-15406781	H1-hESC	embryonic stem cell:	n/a	n/a
24	CTCF	chr17:15406166-15406486	Spleen_OC	spleen:	n/a	n/a
25	SMC3	chr17:15406090-15406508	Hela-S3	cervix:	n/a	n/a
26	ELF1	chr17:15406167-15406560	GM12878	blood:	n/a	n/a
27	STAT3	chr17:15406197-15406552	MCF10A-Er-Src	breast:	n/a	n/a
28	MAX	chr17:15406146-15406560	H1-hESC	embryonic stem cell:	n/a	n/a
29	EP300	chr17:15405978-15406594	SK-N-SH	brain:	n/a	n/a
30	RAD21	chr17:15406082-15406617	MCF-7	breast:	n/a	n/a
31	PAX5	chr17:15406372-15406892	GM12878	blood:	n/a	n/a
32	ZNF143	chr17:15406106-15406720	GM12878	blood:	n/a	n/a
33	TCF12	chr17:15405873-15406682	A549	lung:	n/a	n/a
34	ZNF143	chr17:15406044-15406486	H1-hESC	embryonic stem cell:	n/a	n/a
35	TEAD4	chr17:15406059-15406487	K562	blood:	n/a	n/a
36	RAD21	chr17:15406034-15406570	H1-hESC	embryonic stem cell:	n/a	n/a
37	SPI1	chr17:15405874-15406541	GM12878	blood:	n/a	n/a
38	RAD21	chr17:15405987-15406613	A549	lung:	n/a	n/a
39	CHD1	chr17:15405539-15406651	IMR90	lung:	n/a	n/a
40	HDAC2	chr17:15406151-15406538	MCF-7	breast:	n/a	n/a
41	YY1	chr17:15406061-15406587	H1-hESC	embryonic stem cell:	n/a	n/a
42	MYC	chr17:15406103-15406503	K562	blood:	n/a	n/a
43	MYC	chr17:15406188-15406508	H1-hESC	embryonic stem cell:	n/a	n/a
44	RAD21	chr17:15405997-15406658	HCT-116	colon:	n/a	n/a
45	RAD21	chr17:15406072-15406566	ECC-1	luminal epithelium:	n/a	n/a
46	MAZ	chr17:15405514-15406698	IMR90	lung:	n/a	n/a
47	SMC3	chr17:15406081-15406490	K562	blood:	n/a	n/a
48	CTCF	chr17:15406068-15406504	K562	blood:	n/a	n/a
49	STAT3	chr17:15406181-15406547	MCF10A-Er-Src	breast:	n/a	n/a
50	CTCF	chr17:15405519-15407085	A549	lung:	n/a	n/a

No data

(count:8 , 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	chr17:15163915..15164727-chr17:15406027..15406796,2	MCF-7	breast:
5	chr17:15398558..15401467-chr17:15403715..15406504,4	K562	blood:
6	chr17:15339768..15340717-chr17:15405925..15406718,2	K562	blood:
7	chr17:15398558..15401467-chr17:15404011..15406504,2	K562	blood:
8	chr17:15162964..15164800-chr17:15405391..15407046,14	MCF-7	breast:

No data

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

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs55763007	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56034888	1.00[AMR][1000 genomes]
rs56120533	1.00[AMR][1000 genomes]
rs61575996	1.00[AMR][1000 genomes]
rs6502463	1.00[AMR][1000 genomes]
rs7217356	1.00[AMR][1000 genomes]
rs73978043	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73978049	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73978235	1.00[AMR][1000 genomes]
rs73978258	0.87[AFR][1000 genomes];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:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:15383200-15419600	Weak transcription	Thymus	Thymus
2	chr17:15383400-15455000	Weak transcription	Gastric	stomach
3	chr17:15385600-15418000	Weak transcription	Pancreas	Pancrea
4	chr17:15387200-15417000	Weak transcription	Small Intestine	intestine
5	chr17:15393400-15451200	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr17:15394600-15417000	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr17:15394800-15450800	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr17:15395000-15410200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr17:15395400-15413400	Weak transcription	Hela-S3	cervix
10	chr17:15396000-15417200	Weak transcription	Fetal Brain Male	brain
11	chr17:15396800-15420400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr17:15398800-15408800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr17:15399000-15408800	Strong transcription	HepG2	liver
14	chr17:15400800-15413000	Weak transcription	NH-A	brain
15	chr17:15401200-15420400	Weak transcription	Psoas Muscle	Psoas
16	chr17:15402800-15410200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr17:15403000-15410200	Weak transcription	Fetal Brain Female	brain
18	chr17:15404600-15406800	Enhancers	Fetal Kidney	kidney
19	chr17:15404600-15406800	Enhancers	HUVEC	blood vessel
20	chr17:15405000-15406800	Enhancers	Esophagus	oesophagus
21	chr17:15405000-15406800	Enhancers	Spleen	Spleen
22	chr17:15405200-15406600	Enhancers	Rectal Mucosa Donor 31	rectum
23	chr17:15405200-15406800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr17:15405400-15406600	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr17:15405400-15406600	Enhancers	Fetal Heart	heart
26	chr17:15405400-15406800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr17:15405400-15410200	Weak transcription	Primary T cells from cord blood	blood
28	chr17:15405400-15418200	Weak transcription	Duodenum Mucosa	Duodenum
29	chr17:15405400-15419000	Weak transcription	Liver	Liver
30	chr17:15405600-15406600	Enhancers	Primary hematopoietic stem cells	blood
31	chr17:15405600-15406600	Enhancers	Primary hematopoietic stem cells short term culture	blood
32	chr17:15405600-15410200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr17:15405600-15411200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr17:15405800-15406600	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr17:15405800-15406600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr17:15405800-15406600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr17:15405800-15406800	Enhancers	H9 Cell Line	embryonic stem cell
38	chr17:15405800-15406800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr17:15405800-15406800	Enhancers	Primary B cells from peripheral blood	blood
40	chr17:15405800-15406800	Enhancers	Primary T cells fromperipheralblood	blood
41	chr17:15405800-15406800	Enhancers	Placenta	Placenta
42	chr17:15405800-15406800	Enhancers	HMEC	breast
43	chr17:15406000-15406600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr17:15406000-15406600	Enhancers	Primary B cells from cord blood	blood
45	chr17:15406000-15406600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr17:15406000-15406600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr17:15406000-15406600	Enhancers	NHEK	skin
48	chr17:15406000-15406800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr17:15406000-15406800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr17:15406000-15406800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell

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