Variant report

Variant	rs524988
Chromosome Location	chr19:56632532-56632533
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:22)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:56631390..56634909-chr19:56825062..56827444,3	MCF-7	breast:
2	chr19:56630391..56632820-chr19:56902199..56906311,3	K562	blood:
3	chr19:56632137..56632836-chr3:128902622..128903215,2	Hela-S3	cervix:
4	chr17:41150376..41150927-chr19:56632321..56632951,2	Hela-S3	cervix:
5	chr19:56632300..56632847-chr7:86781637..86782157,2	Hela-S3	cervix:
6	chr1:113162443..113163296-chr19:56631885..56632717,2	Hela-S3	cervix:
7	chr19:56164264..56167135-chr19:56631802..56633967,4	K562	blood:
8	chr19:56631391..56633030-chr19:56824712..56827583,2	K562	blood:
9	chr19:56627257..56634581-chr19:56650310..56656612,28	MCF-7	breast:
10	chr19:56629593..56636020-chr19:56650029..56654099,17	K562	blood:
11	chr19:56629946..56632652-chr19:56657182..56659175,2	K562	blood:
12	chr15:83478077..83478694-chr19:56632004..56632840,2	Hela-S3	cervix:
13	chr19:56632216..56633155-chr19:56652902..56653633,2	K562	blood:
14	chr19:56631872..56632543-chr9:102669033..102669852,2	Hela-S3	cervix:
15	chr19:56630391..56632820-chr19:56902199..56904998,2	K562	blood:
16	chr19:55626838..55628634-chr19:56630662..56632626,2	MCF-7	breast:
17	chr19:56631659..56633594-chr19:56825559..56827609,3	MCF-7	breast:
18	chr10:126479978..126480551-chr19:56631808..56632649,2	Hela-S3	cervix:
19	chr19:56629593..56635165-chr19:56650391..56656450,20	K562	blood:
20	chr19:56165463..56168899-chr19:56631045..56633379,3	K562	blood:
21	chr19:56154949..56157092-chr19:56632186..56634615,2	K562	blood:
22	chr19:56629015..56635457-chr19:56649954..56657591,25	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000116489	Chromatin interaction
ENSG00000203791	Chromatin interaction
ENSG00000125503	Chromatin interaction
ENSG00000063244	Chromatin interaction
ENSG00000169714	Chromatin interaction
ENSG00000131848	Chromatin interaction
ENSG00000135164	Chromatin interaction
ENSG00000018869	Chromatin interaction
ENSG00000267454	Chromatin interaction
ENSG00000258539	Chromatin interaction
ENSG00000156232	Chromatin interaction
ENSG00000171425	Chromatin interaction
ENSG00000267549	Chromatin interaction
ENSG00000224046	Chromatin interaction
ENSG00000167685	Chromatin interaction
ENSG00000131469	Chromatin interaction

Extended variants
information (count: 101 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:83)

rs_ID	r²[population]
rs11673628	0.81[ASN][1000 genomes]
rs12459102	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12981138	0.82[ASN][1000 genomes]
rs12983086	0.80[ASN][1000 genomes]
rs2450439	0.93[ASN][1000 genomes]
rs2631625	0.91[ASN][1000 genomes]
rs2631627	0.89[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2631628	0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2631631	0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2631637	0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2631640	0.90[ASN][1000 genomes]
rs2637088	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2637092	0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2637094	0.87[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2637097	0.88[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2637114	0.91[ASN][1000 genomes]
rs2932757	0.87[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs473953	0.97[ASN][1000 genomes]
rs478402	0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs4801676	0.83[ASN][1000 genomes]
rs481936	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs490345	0.89[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs492078	0.83[ASN][1000 genomes]
rs497453	0.84[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs501798	0.82[ASN][1000 genomes]
rs504350	0.83[ASN][1000 genomes]
rs506547	0.92[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs509897	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs517021	0.88[ASN][1000 genomes]
rs517582	0.83[ASN][1000 genomes]
rs522980	0.88[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs524778	0.92[ASN][1000 genomes]
rs524829	0.92[ASN][1000 genomes]
rs525827	0.84[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs527715	0.84[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs533640	0.82[ASN][1000 genomes]
rs533734	0.82[ASN][1000 genomes]
rs535393	0.83[ASN][1000 genomes]
rs536342	0.82[ASN][1000 genomes]
rs536414	0.80[ASN][1000 genomes]
rs537425	0.83[ASN][1000 genomes]
rs544365	0.85[ASN][1000 genomes]
rs545570	0.84[ASN][1000 genomes]
rs547002	0.84[ASN][1000 genomes]
rs547945	0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs564050	0.82[ASN][1000 genomes]
rs564973	0.87[ASN][1000 genomes]
rs565879	0.80[ASN][1000 genomes]
rs569310	0.84[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs572851	0.87[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs578990	0.92[ASN][1000 genomes]
rs578991	0.84[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs582271	0.80[ASN][1000 genomes]
rs583330	0.90[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs587702	0.83[ASN][1000 genomes]
rs588574	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs592827	0.92[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs599405	0.87[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs619934	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs626821	0.90[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs628090	0.83[ASN][1000 genomes]
rs629544	0.92[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs630704	0.80[ASN][1000 genomes]
rs640654	0.90[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs643133	0.84[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs643174	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs659424	0.95[ASN][1000 genomes]
rs662308	0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs662763	0.85[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs665082	0.87[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs665846	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs665857	0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs667438	0.93[ASN][1000 genomes]
rs667523	0.88[ASN][1000 genomes]
rs667974	0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs669866	0.85[ASN][1000 genomes]
rs677127	0.89[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs677142	0.82[ASN][1000 genomes]
rs678540	0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs684653	0.92[ASN][1000 genomes]
rs685117	0.88[ASN][1000 genomes]
rs8103672	0.84[ASN][1000 genomes]
rs9676765	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1056598	chr19:56331762-56703428	Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
2	nsv1064371	chr19:56418215-56842450	ZNF genes & repeats Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
3	nsv1057316	chr19:56418215-56849458	Strong transcription Enhancers ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
4	nsv580354	chr19:56505685-56723492	Weak transcription Genic enhancers Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
5	nsv833883	chr19:56512601-56640089	Strong transcription Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
6	nsv523651	chr19:56537528-56707048	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
7	nsv1057820	chr19:56555942-56720262	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
8	nsv528998	chr19:56578238-56707048	Active TSS Genic enhancers Weak transcription Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
9	nsv912512	chr19:56592286-56636759	Enhancers Genic enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
10	nsv517365	chr19:56592286-56674548	Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
11	nsv912513	chr19:56592286-56685463	Flanking Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
12	nsv521744	chr19:56592286-56686953	Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
13	nsv912514	chr19:56596815-56636759	Flanking Active TSS Genic enhancers Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
14	nsv912516	chr19:56601298-56981382	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	93 gene(s)	inside rSNPs	diseases
15	esv1809307	chr19:56604027-56633623	Enhancers Transcr. at gene 5' and 3' Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
16	esv1824038	chr19:56610449-56636632	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
17	esv3331653	chr19:56631165-56634013	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	n/a
18	esv3409452	chr19:56631390-56633688	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:56631000-56632600	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
2	chr19:56631000-56633200	Active TSS	H9 Cell Line	embryonic stem cell
3	chr19:56631000-56633200	Active TSS	HUES64 Cell Line	embryonic stem cell
4	chr19:56631000-56633400	Active TSS	Small Intestine	intestine
5	chr19:56631000-56633600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr19:56631200-56632800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr19:56631200-56633400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr19:56631200-56633600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr19:56631200-56633600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr19:56631200-56633600	Active TSS	Pancreatic Islets	Pancreatic Islet
11	chr19:56631200-56633800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr19:56631400-56633200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr19:56631400-56633200	Active TSS	HUES6 Cell Line	embryonic stem cell
14	chr19:56631400-56633200	Active TSS	iPS-18 Cell Line	embryonic stem cell
15	chr19:56631400-56633200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr19:56631400-56633200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr19:56631400-56633200	Active TSS	Aorta	Aorta
18	chr19:56631400-56633200	Active TSS	Brain Substantia Nigra	brain
19	chr19:56631400-56633200	Active TSS	Colon Smooth Muscle	Colon
20	chr19:56631400-56633200	Active TSS	Left Ventricle	heart
21	chr19:56631400-56633200	Active TSS	A549	lung
22	chr19:56631400-56633200	Active TSS	HSMM	muscle
23	chr19:56631400-56633400	Active TSS	iPS-15b Cell Line	embryonic stem cell
24	chr19:56631400-56633400	Active TSS	iPS-20b Cell Line	embryonic stem cell
25	chr19:56631400-56633400	Active TSS	Gastric	stomach
26	chr19:56631400-56633400	Active TSS	Ovary	ovary
27	chr19:56631400-56633600	Active TSS	NH-A	brain
28	chr19:56631600-56633000	Active TSS	Primary monocytes fromperipheralblood	blood
29	chr19:56631600-56633000	Active TSS	Primary T cells from cord blood	blood
30	chr19:56631600-56633000	Active TSS	Primary hematopoietic stem cells short term culture	blood
31	chr19:56631600-56633000	Active TSS	Primary T helper cells PMA-I stimulated	--
32	chr19:56631600-56633000	Active TSS	Muscle Satellite Cultured Cells	--
33	chr19:56631600-56633000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr19:56631600-56633000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr19:56631600-56633000	Active TSS	Adipose Nuclei	Adipose
36	chr19:56631600-56633000	Active TSS	Liver	Liver
37	chr19:56631600-56633000	Active TSS	Fetal Adrenal Gland	Adrenal Gland
38	chr19:56631600-56633000	Weak transcription	Fetal Heart	heart
39	chr19:56631600-56633000	Active TSS	Fetal Intestine Large	intestine
40	chr19:56631600-56633000	Active TSS	Fetal Intestine Small	intestine
41	chr19:56631600-56633000	Active TSS	Sigmoid Colon	Sigmoid Colon
42	chr19:56631600-56633000	Active TSS	Thymus	Thymus
43	chr19:56631600-56633000	Active TSS	Hela-S3	cervix
44	chr19:56631600-56633000	Active TSS	HUVEC	blood vessel
45	chr19:56631600-56633000	Active TSS	Osteobl	bone
46	chr19:56631600-56633200	Active TSS	H1 Cell Line	embryonic stem cell
47	chr19:56631600-56633200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr19:56631600-56633200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr19:56631600-56633200	Active TSS	HUES48 Cell Line	embryonic stem cell
50	chr19:56631600-56633200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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