Variant report

Variant	rs62122411
Chromosome Location	chr19:56605032-56605033
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:56603070..56605963-chr19:56628065..56630329,2	K562	blood:
2	chr19:56603039..56605277-chr19:56607170..56609426,2	MCF-7	breast:

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1109713	0.83[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs2279413	0.88[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs494615	0.83[EUR][1000 genomes]
rs516022	0.82[EUR][1000 genomes]
rs57364584	0.80[ASN][1000 genomes]
rs58893103	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs59924464	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61172706	0.81[EUR][1000 genomes]
rs61230151	0.81[ASN][1000 genomes]
rs62122401	0.87[AMR][1000 genomes]
rs62122402	0.87[AMR][1000 genomes]
rs62122445	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62122446	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62122447	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs62122448	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs62122451	0.92[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs62122452	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs62122455	0.90[AMR][1000 genomes]
rs72490744	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 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	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	nsv912515	chr19:56598829-56623710	Weak transcription Genic enhancers Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
16	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
17	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

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:56592600-56620000	Weak transcription	HSMMtube	muscle
2	chr19:56592800-56622600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr19:56593000-56606400	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr19:56593000-56616200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr19:56593000-56616600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr19:56593000-56616800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr19:56593000-56631200	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr19:56593600-56616000	Weak transcription	Stomach Mucosa	stomach
9	chr19:56594800-56616800	Weak transcription	HUVEC	blood vessel
10	chr19:56596400-56605400	Strong transcription	Primary neutrophils fromperipheralblood	blood
11	chr19:56596600-56614800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr19:56597200-56619400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr19:56598000-56605400	Strong transcription	Sigmoid Colon	Sigmoid Colon
14	chr19:56599800-56605400	Strong transcription	Primary B cells from peripheral blood	blood
15	chr19:56599800-56615200	Strong transcription	Liver	Liver
16	chr19:56600000-56619000	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr19:56600400-56614400	Strong transcription	HepG2	liver
18	chr19:56600600-56609000	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr19:56600800-56616800	Weak transcription	Small Intestine	intestine
20	chr19:56601000-56607000	Weak transcription	Colon Smooth Muscle	Colon
21	chr19:56601400-56612000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr19:56601600-56611800	Weak transcription	Primary T helper cells PMA-I stimulated	--
23	chr19:56602400-56605600	ZNF genes & repeats	Fetal Brain Female	brain
24	chr19:56602400-56606800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr19:56602600-56610200	Weak transcription	Primary T cells fromperipheralblood	blood
26	chr19:56602800-56605200	Genic enhancers	Spleen	Spleen
27	chr19:56602800-56608200	Weak transcription	Fetal Heart	heart
28	chr19:56602800-56614400	ZNF genes & repeats	Fetal Stomach	stomach
29	chr19:56602800-56620000	Weak transcription	NH-A	brain
30	chr19:56603000-56605200	Strong transcription	Stomach Smooth Muscle	stomach
31	chr19:56603000-56608200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr19:56603000-56608800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr19:56603000-56616600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr19:56603200-56605200	ZNF genes & repeats	Fetal Intestine Large	intestine
35	chr19:56603200-56607000	Weak transcription	Primary T helper cells fromperipheralblood	blood
36	chr19:56603200-56609000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr19:56603200-56612400	Weak transcription	Osteobl	bone
38	chr19:56603200-56619800	Weak transcription	NHDF-Ad	bronchial
39	chr19:56603400-56607000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr19:56603400-56607000	Strong transcription	Monocytes-CD14+_RO01746	blood
41	chr19:56603400-56609000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr19:56603600-56605200	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr19:56603600-56605200	ZNF genes & repeats	Fetal Thymus	thymus
44	chr19:56603600-56605400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr19:56603600-56605400	ZNF genes & repeats	Brain Germinal Matrix	brain
46	chr19:56603600-56605400	ZNF genes & repeats	K562	blood
47	chr19:56603600-56605600	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr19:56603600-56607600	ZNF genes & repeats	Fetal Intestine Small	intestine
49	chr19:56603600-56608200	Weak transcription	Right Atrium	heart
50	chr19:56603800-56605400	Strong transcription	Dnd41	blood

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