Variant report

Variant	rs73615764
Chromosome Location	chr19:56633961-56633962
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:56631390..56634909-chr19:56825062..56827444,3	MCF-7	breast:
2	chr19:56164264..56167135-chr19:56631802..56633967,4	K562	blood:
3	chr19:56627257..56634581-chr19:56650310..56656612,28	MCF-7	breast:
4	chr19:56629593..56636020-chr19:56650029..56654099,17	K562	blood:
5	chr19:56629593..56635165-chr19:56650391..56656450,20	K562	blood:
6	chr19:56154949..56157092-chr19:56632186..56634615,2	K562	blood:
7	chr19:56629015..56635457-chr19:56649954..56657591,25	MCF-7	breast:

Variant related genes	Relation type
ENSG00000131848	Chromatin interaction
ENSG00000267549	Chromatin interaction
ENSG00000167685	Chromatin interaction
ENSG00000063244	Chromatin interaction
ENSG00000171425	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs56725337	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57889563	1.00[AMR][1000 genomes]
rs58390446	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs665082	0.84[AFR][1000 genomes]
rs73615730	1.00[AMR][1000 genomes]
rs73615731	1.00[AMR][1000 genomes]
rs73615733	1.00[AMR][1000 genomes]
rs73615737	1.00[AMR][1000 genomes]
rs73615742	1.00[AMR][1000 genomes]
rs73615748	1.00[AMR][1000 genomes]
rs73615758	1.00[AMR][1000 genomes]
rs73615765	1.00[AMR][1000 genomes]
rs73615768	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73615775	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73615780	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73615796	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 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	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
16	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

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:56633400-56634600	Weak transcription	Ovary	ovary
2	chr19:56633400-56634800	Enhancers	Fetal Stomach	stomach
3	chr19:56633400-56635200	Enhancers	Fetal Muscle Leg	muscle
4	chr19:56633400-56636800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr19:56633400-56636800	Weak transcription	HSMM	muscle
6	chr19:56633400-56637000	Weak transcription	Left Ventricle	heart
7	chr19:56633600-56634000	Enhancers	Primary neutrophils fromperipheralblood	blood
8	chr19:56633600-56634000	Enhancers	Primary hematopoietic stem cells	blood
9	chr19:56633600-56634000	Enhancers	Fetal Thymus	thymus
10	chr19:56633600-56634000	Enhancers	HepG2	liver
11	chr19:56633600-56634800	Weak transcription	Thymus	Thymus
12	chr19:56633600-56636200	Weak transcription	Fetal Muscle Trunk	muscle
13	chr19:56633600-56636800	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr19:56633600-56636800	Weak transcription	Colonic Mucosa	Colon
15	chr19:56633600-56636800	Weak transcription	Placenta	Placenta
16	chr19:56633600-56636800	Weak transcription	Pancreas	Pancrea
17	chr19:56633600-56636800	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr19:56633600-56636800	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr19:56633600-56636800	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr19:56633600-56636800	Weak transcription	HSMMtube	muscle
21	chr19:56633600-56637000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr19:56633600-56637000	Weak transcription	Psoas Muscle	Psoas
23	chr19:56633600-56637000	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr19:56633600-56637200	Weak transcription	Fetal Intestine Small	intestine
25	chr19:56633600-56637400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr19:56633600-56637400	Enhancers	Primary T cells fromperipheralblood	blood
27	chr19:56633600-56637400	Enhancers	Primary T helper naive cells from peripheral blood	blood
28	chr19:56633600-56637400	Enhancers	Primary T helper cells fromperipheralblood	blood
29	chr19:56633600-56637400	Weak transcription	Fetal Intestine Large	intestine
30	chr19:56633600-56637600	Weak transcription	Duodenum Mucosa	Duodenum
31	chr19:56633600-56638400	Weak transcription	Spleen	Spleen
32	chr19:56633600-56638800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr19:56633600-56639400	Enhancers	Primary T cells from cord blood	blood
34	chr19:56633800-56634000	Enhancers	Primary T killer memory cells from peripheral blood	blood
35	chr19:56633800-56634000	Active TSS	Duodenum Smooth Muscle	Duodenum
36	chr19:56633800-56634200	Weak transcription	Fetal Lung	lung
37	chr19:56633800-56635400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr19:56633800-56636600	Weak transcription	K562	blood
39	chr19:56633800-56637000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr19:56633800-56637200	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr19:56633800-56637400	Enhancers	Primary T helper cells PMA-I stimulated	--
42	chr19:56633800-56637800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
43	chr19:56633800-56637800	Weak transcription	Fetal Kidney	kidney

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