Variant report

Variant	rs1206039
Chromosome Location	chr19:42861918-42861919
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:42854805..42859477-chr19:42860532..42863518,6	K562	blood:
2	chr19:42855415..42858223-chr19:42859630..42862588,2	MCF-7	breast:
3	chr19:42854805..42857778-chr19:42861403..42863188,2	K562	blood:

Variant related genes	Relation type
ENSG00000105429	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1206030	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1206036	1.00[AMR][1000 genomes]
rs1206037	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1654624	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1685564	1.00[AMR][1000 genomes]
rs1685566	0.83[AFR][1000 genomes]
rs2615615	0.83[AFR][1000 genomes]
rs851291	1.00[AMR][1000 genomes]
rs851295	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs851299	1.00[AMR][1000 genomes]
rs851300	1.00[AMR][1000 genomes]
rs851608	1.00[AMR][1000 genomes]
rs851614	0.83[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv522854	chr19:42120283-42931004	Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
2	nsv520239	chr19:42357455-42931004	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
3	nsv911782	chr19:42514712-42931004	Bivalent/Poised TSS Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
4	nsv526186	chr19:42676481-43203507	Enhancers Bivalent Enhancer Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	62 gene(s)	inside rSNPs	diseases
5	esv2422471	chr19:42733141-43669485	Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	70 gene(s)	inside rSNPs	diseases
6	nsv911785	chr19:42741124-42917545	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	46 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42830800-42867200	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr19:42830800-42867600	Weak transcription	Fetal Kidney	kidney
3	chr19:42830800-42879200	Weak transcription	Small Intestine	intestine
4	chr19:42830800-42884200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr19:42831000-42874400	Weak transcription	HSMM	muscle
6	chr19:42831400-42867400	Weak transcription	Fetal Heart	heart
7	chr19:42831400-42867400	Weak transcription	NHEK	skin
8	chr19:42831600-42882600	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr19:42831800-42873800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr19:42831800-42874800	Weak transcription	K562	blood
11	chr19:42833400-42867400	Weak transcription	GM12878-XiMat	blood
12	chr19:42835400-42867400	Strong transcription	Fetal Stomach	stomach
13	chr19:42839800-42866800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr19:42841000-42867600	Weak transcription	Osteobl	bone
15	chr19:42841400-42865000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr19:42841600-42867800	Weak transcription	HepG2	liver
17	chr19:42843400-42867800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr19:42844000-42867200	Strong transcription	Fetal Muscle Trunk	muscle
19	chr19:42844800-42877400	Weak transcription	Stomach Mucosa	stomach
20	chr19:42849800-42867400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr19:42851000-42863600	Strong transcription	Stomach Smooth Muscle	stomach
22	chr19:42851600-42862000	Strong transcription	Fetal Intestine Large	intestine
23	chr19:42852000-42862800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr19:42852000-42863600	Strong transcription	Skeletal Muscle Male	skeletal muscle
25	chr19:42852000-42864000	Strong transcription	Duodenum Smooth Muscle	Duodenum
26	chr19:42852000-42868000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr19:42852000-42868600	Strong transcription	Fetal Muscle Leg	muscle
28	chr19:42852200-42863200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr19:42852200-42864000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr19:42852200-42867400	Strong transcription	Skeletal Muscle Female	skeletal muscle
31	chr19:42852200-42867800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr19:42852200-42867800	Strong transcription	Right Ventricle	heart
33	chr19:42852400-42867200	Weak transcription	Monocytes-CD14+_RO01746	blood
34	chr19:42852400-42867800	Weak transcription	Primary T cells from cord blood	blood
35	chr19:42853000-42867400	Strong transcription	Lung	lung
36	chr19:42853600-42862800	Strong transcription	Esophagus	oesophagus
37	chr19:42853800-42863200	Strong transcription	Brain Hippocampus Middle	brain
38	chr19:42854200-42867400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr19:42854600-42862600	Strong transcription	Ovary	ovary
40	chr19:42855000-42867400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
41	chr19:42855200-42862600	Strong transcription	Sigmoid Colon	Sigmoid Colon
42	chr19:42855200-42863600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr19:42855400-42862400	Strong transcription	Colonic Mucosa	Colon
44	chr19:42855400-42863600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr19:42855400-42868000	Strong transcription	Left Ventricle	heart
46	chr19:42855600-42863000	Strong transcription	Adipose Nuclei	Adipose
47	chr19:42855600-42863000	Strong transcription	Gastric	stomach
48	chr19:42855800-42862800	Strong transcription	Brain Substantia Nigra	brain
49	chr19:42856000-42863600	Strong transcription	Placenta	Placenta
50	chr19:42856200-42862800	Strong transcription	HUES6 Cell Line	embryonic stem cell

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