Variant report

Variant	rs851299
Chromosome Location	chr19:42937888-42937889
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:42937771..42938435-chr19:42948722..42949229,2	K562	blood:
2	chr19:42579722..42581439-chr19:42937006..42939501,2	K562	blood:
3	chr19:42612371..42613589-chr19:42937505..42938430,9	K562	blood:
4	chr19:42923683..42924698-chr19:42937367..42938479,4	MCF-7	breast:
5	chr19:42923925..42924921-chr19:42937449..42938520,3	K562	blood:
6	chr19:42928480..42929446-chr19:42937174..42938449,5	MCF-7	breast:
7	chr19:42636873..42637913-chr19:42937511..42938452,5	K562	blood:
8	chr19:42910433..42912218-chr19:42935369..42937921,2	K562	blood:
9	chr19:42923927..42924838-chr19:42937872..42938431,4	MCF-7	breast:
10	chr19:42890893..42891547-chr19:42937567..42938070,2	MCF-7	breast:
11	chr19:42828948..42829733-chr19:42937653..42938351,2	MCF-7	breast:
12	chr19:42612483..42613161-chr19:42937779..42938440,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000105732	Chromatin interaction
ENSG00000266226	Chromatin interaction
ENSG00000079435	Chromatin interaction
ENSG00000268605	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1206030	1.00[AMR][1000 genomes]
rs1206036	1.00[AMR][1000 genomes]
rs1206037	1.00[AMR][1000 genomes]
rs1206039	1.00[AMR][1000 genomes]
rs1654624	1.00[AMR][1000 genomes]
rs1685564	0.87[LWK][hapmap];1.00[AMR][1000 genomes]
rs2615615	0.87[LWK][hapmap]
rs851291	1.00[LWK][hapmap];1.00[AMR][1000 genomes]
rs851295	1.00[AMR][1000 genomes]
rs851300	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs851608	1.00[AMR][1000 genomes]
rs851614	0.87[LWK][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42928800-42944800	Weak transcription	Esophagus	oesophagus
2	chr19:42929600-42945200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr19:42936200-42940600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr19:42936600-42938000	Enhancers	Right Ventricle	heart
5	chr19:42936600-42939800	Enhancers	Left Ventricle	heart
6	chr19:42936600-42943200	Enhancers	HepG2	liver
7	chr19:42936800-42938000	Enhancers	Brain Hippocampus Middle	brain
8	chr19:42936800-42938000	Enhancers	Colon Smooth Muscle	Colon
9	chr19:42936800-42938000	Enhancers	Fetal Intestine Large	intestine
10	chr19:42936800-42938000	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr19:42937000-42938000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr19:42937000-42938000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr19:42937000-42938000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr19:42937000-42938000	Enhancers	Brain Substantia Nigra	brain
15	chr19:42937000-42938000	Enhancers	Duodenum Smooth Muscle	Duodenum
16	chr19:42937000-42938000	Enhancers	Fetal Intestine Small	intestine
17	chr19:42937000-42938000	Enhancers	Ovary	ovary
18	chr19:42937000-42938000	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr19:42937000-42938000	Enhancers	K562	blood
20	chr19:42937200-42938000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr19:42937200-42938000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr19:42937200-42938000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr19:42937200-42938000	Flanking Active TSS	Adipose Nuclei	Adipose
24	chr19:42937200-42938000	Enhancers	Liver	Liver
25	chr19:42937200-42938000	Enhancers	Brain Angular Gyrus	brain
26	chr19:42937200-42938000	Enhancers	Brain Cingulate Gyrus	brain
27	chr19:42937200-42938000	Enhancers	Fetal Heart	heart
28	chr19:42937200-42938000	Enhancers	Rectal Mucosa Donor 29	rectum
29	chr19:42937200-42938000	Enhancers	Right Atrium	heart
30	chr19:42937200-42938000	Enhancers	Small Intestine	intestine
31	chr19:42937200-42938000	Enhancers	NHDF-Ad	bronchial
32	chr19:42937200-42938200	Enhancers	Fetal Muscle Leg	muscle
33	chr19:42937200-42938200	Enhancers	HUVEC	blood vessel
34	chr19:42937200-42938400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr19:42937400-42938000	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr19:42937400-42938000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr19:42937400-42938000	Enhancers	Duodenum Mucosa	Duodenum
38	chr19:42937400-42938000	Enhancers	Pancreas	Pancrea
39	chr19:42937400-42938000	Enhancers	Rectal Mucosa Donor 31	rectum
40	chr19:42937400-42938000	Enhancers	Stomach Smooth Muscle	stomach
41	chr19:42937400-42938000	Enhancers	Spleen	Spleen
42	chr19:42937400-42938000	Flanking Active TSS	A549	lung
43	chr19:42937400-42938000	Enhancers	NHLF	lung
44	chr19:42937400-42938200	Genic enhancers	Lung	lung
45	chr19:42937400-42938200	Enhancers	Stomach Mucosa	stomach
46	chr19:42937600-42938000	Enhancers	ES-I3 Cell Line	embryonic stem cell
47	chr19:42937600-42938000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
48	chr19:42937600-42938000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr19:42937600-42938000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr19:42937600-42938000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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