Variant report

Variant	rs60635681
Chromosome Location	chr19:19576890-19576891
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:19573739..19577960-chr19:19580596..19583736,3	MCF-7	breast:
2	chr19:19566080..19568090-chr19:19575455..19577362,2	K562	blood:
3	chr19:19571463..19575965-chr19:19576361..19580794,6	K562	blood:
4	chr19:19516568..19518207-chr19:19573514..19577628,3	MCF-7	breast:
5	chr19:19494923..19497823-chr19:19573798..19576950,3	K562	blood:
6	chr19:19515140..19518800-chr19:19574675..19578008,3	K562	blood:

Variant related genes	Relation type
ENSG00000167491	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11878997	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11879483	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28808149	1.00[AMR][1000 genomes]
rs56786913	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57321153	1.00[AMR][1000 genomes]
rs58179637	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58210809	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59432787	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60542032	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61418834	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61687899	1.00[AMR][1000 genomes]
rs7247854	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73524674	1.00[AMR][1000 genomes]
rs73524684	1.00[AMR][1000 genomes]
rs73528412	1.00[AMR][1000 genomes]
rs73530412	1.00[AMR][1000 genomes]
rs73530428	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73530433	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73532115	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73532138	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73532145	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73532149	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73532150	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73532158	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73539469	1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv911305	chr19:19303802-19663850	Genic enhancers Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:19575000-19577400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr19:19575000-19577400	Genic enhancers	Fetal Muscle Trunk	muscle
3	chr19:19575000-19577400	Genic enhancers	Fetal Muscle Leg	muscle
4	chr19:19575000-19577400	Genic enhancers	HSMM	muscle
5	chr19:19575000-19578200	Weak transcription	Fetal Brain Male	brain
6	chr19:19575000-19578600	Weak transcription	Small Intestine	intestine
7	chr19:19575200-19577400	Genic enhancers	Primary T cells fromperipheralblood	blood
8	chr19:19575200-19577600	Strong transcription	Primary B cells from peripheral blood	blood
9	chr19:19575200-19577800	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
10	chr19:19575200-19578000	Strong transcription	HepG2	liver
11	chr19:19575400-19577000	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr19:19575400-19577200	Weak transcription	Psoas Muscle	Psoas
13	chr19:19575400-19577400	Strong transcription	Primary T cells from cord blood	blood
14	chr19:19575400-19577600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr19:19575400-19578200	Strong transcription	Primary T helper cells fromperipheralblood	blood
16	chr19:19575400-19578800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr19:19575600-19577000	Strong transcription	Primary monocytes fromperipheralblood	blood
18	chr19:19575600-19577600	Strong transcription	Sigmoid Colon	Sigmoid Colon
19	chr19:19575600-19577800	Strong transcription	Rectal Mucosa Donor 29	rectum
20	chr19:19575600-19578000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr19:19575600-19578200	Strong transcription	Liver	Liver
22	chr19:19575600-19581600	ZNF genes & repeats	GM12878-XiMat	blood
23	chr19:19575800-19577200	Strong transcription	Fetal Stomach	stomach
24	chr19:19575800-19577400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr19:19575800-19577400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr19:19575800-19577400	Strong transcription	Right Ventricle	heart
27	chr19:19575800-19577600	Strong transcription	Duodenum Mucosa	Duodenum
28	chr19:19575800-19577600	Strong transcription	A549	lung
29	chr19:19575800-19577600	Strong transcription	NHEK	skin
30	chr19:19575800-19577600	Strong transcription	NHLF	lung
31	chr19:19575800-19578000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr19:19575800-19578000	Strong transcription	Spleen	Spleen
33	chr19:19575800-19578200	Strong transcription	Primary neutrophils fromperipheralblood	blood
34	chr19:19575800-19578200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr19:19575800-19578200	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr19:19575800-19578400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
37	chr19:19575800-19578600	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
38	chr19:19575800-19578800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr19:19575800-19578800	Strong transcription	Colonic Mucosa	Colon
40	chr19:19575800-19578800	Weak transcription	Right Atrium	heart
41	chr19:19575800-19579000	Strong transcription	Rectal Mucosa Donor 31	rectum
42	chr19:19575800-19579600	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr19:19575800-19579800	ZNF genes & repeats	Dnd41	blood
44	chr19:19575800-19580000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr19:19575800-19580600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
46	chr19:19575800-19580800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr19:19575800-19581600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr19:19576000-19577000	Strong transcription	ES-I3 Cell Line	embryonic stem cell
49	chr19:19576000-19577000	Strong transcription	HUES6 Cell Line	embryonic stem cell
50	chr19:19576000-19577200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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