Variant report

Variant	rs622180
Chromosome Location	chr19:56592310-56592311
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:56587880..56589665-chr19:56591150..56593865,2	MCF-7	breast:
2	chr19:56591769..56592656-chrX:35929442..35930145,2	MCF-7	breast:
3	chr19:56591073..56592693-chr19:56682992..56683859,5	MCF-7	breast:
4	chr19:56592253..56593839-chr19:56602016..56603722,2	K562	blood:
5	chr19:56581337..56584331-chr19:56590956..56592904,2	K562	blood:
6	chr19:56591684..56592579-chr19:56763878..56764497,2	K562	blood:
7	chr19:56592228..56593017-chr19:56764764..56765328,2	K562	blood:
8	chr19:56165388..56167305-chr19:56590662..56593656,2	MCF-7	breast:
9	chr19:56591703..56592615-chr19:56682968..56683865,3	K562	blood:
10	chr19:56589626..56592403-chr19:56608296..56610728,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000063244	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs2631649	1.00[AFR][1000 genomes]
rs563655	0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs607774	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs638971	0.84[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	nsv1062406	chr19:56382492-56602374	Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv1058988	chr19:56382492-56609032	Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	esv3382094	chr19:56590140-56593038	Active TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
12	esv3411256	chr19:56590590-56592938	Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
13	esv2469180	chr19:56591055-56592479	Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
14	esv1800134	chr19:56591228-56592655	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
15	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
16	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
17	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
18	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

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:56578200-56596800	Weak transcription	Gastric	stomach
2	chr19:56590800-56593600	Enhancers	Spleen	Spleen
3	chr19:56592000-56592400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr19:56592000-56592400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr19:56592000-56592400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
6	chr19:56592000-56592400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr19:56592000-56592400	Bivalent/Poised TSS	Fetal Lung	lung
8	chr19:56592000-56592400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
9	chr19:56592000-56592400	Active TSS	Rectal Smooth Muscle	rectum
10	chr19:56592000-56592400	Active TSS	Right Ventricle	heart
11	chr19:56592000-56592400	Active TSS	NHDF-Ad	bronchial
12	chr19:56592000-56592600	Active TSS	HUES64 Cell Line	embryonic stem cell
13	chr19:56592000-56592600	Active TSS	iPS-15b Cell Line	embryonic stem cell
14	chr19:56592000-56592600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr19:56592000-56592600	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
16	chr19:56592000-56592800	Active TSS	ES-I3 Cell Line	embryonic stem cell
17	chr19:56592000-56592800	Active TSS	H9 Cell Line	embryonic stem cell
18	chr19:56592000-56592800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr19:56592000-56592800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
20	chr19:56592000-56592800	Flanking Active TSS	Primary B cells from peripheral blood	blood
21	chr19:56592000-56592800	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
22	chr19:56592000-56592800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr19:56592000-56592800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr19:56592000-56592800	Flanking Active TSS	Adipose Nuclei	Adipose
25	chr19:56592000-56592800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
26	chr19:56592000-56592800	Enhancers	Placenta Amnion	Placenta Amnion
27	chr19:56592000-56592800	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
28	chr19:56592000-56592800	Active TSS	Thymus	Thymus
29	chr19:56592000-56592800	Flanking Active TSS	HepG2	liver
30	chr19:56592000-56593000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
31	chr19:56592000-56593000	Flanking Active TSS	Primary B cells from cord blood	blood
32	chr19:56592000-56593000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
33	chr19:56592000-56593000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr19:56592000-56593000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
35	chr19:56592200-56592400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr19:56592200-56592400	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr19:56592200-56592400	Flanking Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr19:56592200-56592400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr19:56592200-56592400	Flanking Active TSS	Primary T cells from cord blood	blood
40	chr19:56592200-56592400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
41	chr19:56592200-56592400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
42	chr19:56592200-56592400	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
43	chr19:56592200-56592400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
44	chr19:56592200-56592400	Enhancers	Primary T killer memory cells from peripheral blood	blood
45	chr19:56592200-56592400	Flanking Active TSS	Colonic Mucosa	Colon
46	chr19:56592200-56592400	Flanking Active TSS	Fetal Thymus	thymus
47	chr19:56592200-56592400	Flanking Active TSS	Right Atrium	heart
48	chr19:56592200-56592400	Flanking Active TSS	Dnd41	blood
49	chr19:56592200-56592600	Flanking Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr19:56592200-56592600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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