Variant report

Variant	rs73934395
Chromosome Location	chr19:56136577-56136578
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:9)
CpG islands
(count:0)
Chromatin interactive
region (count:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:9 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr19:56135735-56136865	SK-N-SH	brain:	n/a	n/a
2	TCF12	chr19:56135229-56136591	A549	lung:	n/a	chr19:56136527-56136536
3	E2F6	chr19:56135901-56136616	H1-hESC	embryonic stem cell:	n/a	chr19:56135940-56135949
4	MAX	chr19:56135590-56136691	A549	lung:	n/a	chr19:56135818-56135827
5	ZNF384	chr19:56135806-56136695	K562	blood:	n/a	n/a
6	MXI1	chr19:56135745-56136839	IMR90	lung:	n/a	n/a
7	RCOR1	chr19:56134873-56136686	K562	blood:	n/a	n/a
8	POLR2A	chr19:56135395-56136605	H1-neurons	neurons:	n/a	n/a
9	REST	chr19:56135363-56136822	H1-neurons	neurons:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr19:56134460..56137185-chr19:56162633..56166165,3	K562	blood:
2	chr19:55994966..55997371-chr19:56133954..56136992,3	K562	blood:
3	chr19:56134733..56137004-chr19:56165358..56168098,3	MCF-7	breast:
4	chr19:56134501..56137412-chr19:56145689..56149345,6	K562	blood:
5	chr19:55969994..55973672-chr19:56134456..56137440,3	MCF-7	breast:
6	chr19:55950973..55953730-chr19:56134853..56137596,2	K562	blood:
7	chr19:56134500..56138557-chr19:56151822..56155582,4	K562	blood:
8	chr19:56134221..56137618-chr19:56162633..56168532,10	K562	blood:
9	chr19:56110415..56112373-chr19:56134518..56138349,4	MCF-7	breast:
10	chr19:55986860..55989470-chr19:56134046..56136997,2	K562	blood:
11	chr19:56116188..56118514-chr19:56134480..56137487,3	MCF-7	breast:
12	chr19:56109378..56114662-chr19:56134412..56139001,15	K562	blood:
13	chr19:56135761..56137279-chr19:56166087..56167869,2	MCF-7	breast:
14	chr19:55918880..55921412-chr19:56134337..56137770,3	MCF-7	breast:
15	chr19:55626847..55629043-chr19:56136358..56138081,2	MCF-7	breast:
16	chr19:56131862..56136924-chr19:56144839..56148352,5	MCF-7	breast:
17	chr19:56132811..56137423-chr19:56151241..56156557,5	MCF-7	breast:
18	chr19:56133203..56138391-chr19:56150309..56156340,8	K562	blood:
19	chr19:56135134..56137131-chr19:56144636..56147133,4	MCF-7	breast:

No data

Variant related genes	Relation type
ZNF784	TF binding region
ENSG00000090971	Chromatin interaction
ENSG00000173581	Chromatin interaction
ENSG00000187902	Chromatin interaction
ENSG00000125503	Chromatin interaction
ENSG00000171443	Chromatin interaction
ENSG00000063244	Chromatin interaction
ENSG00000213015	Chromatin interaction
ENSG00000179943	Chromatin interaction
ENSG00000197483	Chromatin interaction
ENSG00000261221	Chromatin interaction
ENSG00000108106	Chromatin interaction
ENSG00000269859	Chromatin interaction
ENSG00000171425	Chromatin interaction
ENSG00000063241	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs56250101	0.81[AFR][1000 genomes]
rs56331023	0.81[AFR][1000 genomes]
rs7259701	1.00[AMR][1000 genomes]
rs73934393	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73934396	0.85[AFR][1000 genomes]
rs73934402	0.81[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv912473	chr19:55874642-56145428	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	233 gene(s)	inside rSNPs	diseases
2	nsv912486	chr19:55977909-56145428	Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
3	nsv912487	chr19:55977909-56215184	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
4	nsv912494	chr19:56026072-56215184	Genic enhancers Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
5	nsv912496	chr19:56040051-56145428	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer 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
6	nsv912497	chr19:56041848-56145428	Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
7	nsv912498	chr19:56041848-56215184	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
8	nsv828643	chr19:56059280-56154823	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
9	nsv912500	chr19:56078722-56175515	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	86 gene(s)	inside rSNPs	diseases
10	nsv912501	chr19:56093365-56215184	Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
11	nsv912502	chr19:56099884-56138575	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
12	nsv428026	chr19:56130849-56423514	Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	82 gene(s)	inside rSNPs	diseases
13	esv3416031	chr19:56134790-56136988	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:56134800-56136600	Active TSS	Right Ventricle	heart
2	chr19:56134800-56136800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr19:56135000-56136600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr19:56135000-56136600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr19:56135000-56136600	Active TSS	iPS-15b Cell Line	embryonic stem cell
6	chr19:56135000-56136600	Active TSS	iPS-20b Cell Line	embryonic stem cell
7	chr19:56135200-56136600	Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr19:56135200-56136600	Active TSS	H9 Cell Line	embryonic stem cell
9	chr19:56135200-56136600	Active TSS	Brain Cingulate Gyrus	brain
10	chr19:56135200-56136600	Active TSS	Fetal Brain Female	brain
11	chr19:56135200-56136800	Active TSS	HUES64 Cell Line	embryonic stem cell
12	chr19:56135200-56137000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr19:56135200-56137000	Active TSS	Brain Germinal Matrix	brain
14	chr19:56135400-56136600	Active TSS	HUES48 Cell Line	embryonic stem cell
15	chr19:56135400-56136600	Active TSS	HUES6 Cell Line	embryonic stem cell
16	chr19:56135400-56136600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr19:56135400-56136600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr19:56135400-56136600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr19:56135400-56136600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr19:56135400-56136600	Active TSS	Brain Hippocampus Middle	brain
21	chr19:56135400-56136600	Active TSS	Ovary	ovary
22	chr19:56135400-56136600	Active TSS	Rectal Smooth Muscle	rectum
23	chr19:56135400-56136600	Active TSS	A549	lung
24	chr19:56135400-56136600	Active TSS	HSMM	muscle
25	chr19:56135400-56136600	Active TSS	HSMMtube	muscle
26	chr19:56135400-56136600	Active TSS	NH-A	brain
27	chr19:56135400-56136800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr19:56135400-56136800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr19:56135400-56136800	Active TSS	Brain Angular Gyrus	brain
30	chr19:56135400-56136800	Active TSS	HMEC	breast
31	chr19:56135600-56136600	Active TSS	iPS-18 Cell Line	embryonic stem cell
32	chr19:56135600-56136600	Active TSS	Fetal Kidney	kidney
33	chr19:56135600-56136800	Enhancers	Fetal Heart	heart
34	chr19:56135600-56137000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr19:56135800-56136600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
36	chr19:56135800-56136600	Flanking Active TSS	Liver	Liver
37	chr19:56135800-56136600	Active TSS	NHDF-Ad	bronchial
38	chr19:56136000-56136600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
39	chr19:56136000-56136600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
40	chr19:56136000-56136600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr19:56136000-56136600	Flanking Active TSS	Fetal Thymus	thymus
42	chr19:56136000-56136600	Flanking Active TSS	HUVEC	blood vessel
43	chr19:56136000-56136800	Flanking Active TSS	Dnd41	blood
44	chr19:56136200-56136600	Flanking Active TSS	H1 Cell Line	embryonic stem cell
45	chr19:56136200-56136600	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr19:56136200-56136600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr19:56136200-56136600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr19:56136200-56136600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr19:56136200-56136600	Flanking Active TSS	Primary B cells from cord blood	blood
50	chr19:56136200-56136600	Flanking Active TSS	Primary T cells from cord blood	blood

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