Variant report

Variant	rs3795070
Chromosome Location	chr19:38087769-38087770
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:38085961..38087829-chr19:38145172..38147580,2	K562	blood:

Variant related genes	Relation type
ENSG00000120784	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1016291	1.00[AFR][1000 genomes]
rs16958869	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs16972326	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs16973130	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs16973541	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs16973717	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs16973886	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs16973890	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs16973919	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs16974061	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs16974358	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs16975375	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs16975696	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs16975712	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16975753	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16975859	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2045907	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2061779	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2290998	0.82[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2306200	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2385128	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs3795068	0.82[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs41325249	0.82[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs4330033	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs4452074	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs73632242	0.88[ASN][1000 genomes]
rs8107454	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs8108032	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs955711	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]

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	nsv579468	chr19:37977609-38293487	ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv949296	chr19:38034722-38763140	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong 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 miRNA target site	58 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:38085000-38087800	Active TSS	Brain Anterior Caudate	brain
2	chr19:38086400-38093400	Weak transcription	Gastric	stomach
3	chr19:38086400-38095600	Weak transcription	Fetal Muscle Trunk	muscle
4	chr19:38086400-38095600	Weak transcription	Stomach Mucosa	stomach
5	chr19:38086600-38088400	Weak transcription	Lung	lung
6	chr19:38086600-38089000	Weak transcription	Left Ventricle	heart
7	chr19:38086600-38089400	Weak transcription	Thymus	Thymus
8	chr19:38086600-38089600	Weak transcription	Pancreas	Pancrea
9	chr19:38086600-38089800	Weak transcription	Osteobl	bone
10	chr19:38086600-38090400	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr19:38086600-38090800	Weak transcription	Psoas Muscle	Psoas
12	chr19:38086600-38091800	Weak transcription	Esophagus	oesophagus
13	chr19:38086600-38092000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr19:38086600-38092200	Weak transcription	Small Intestine	intestine
15	chr19:38086600-38092800	Weak transcription	Fetal Muscle Leg	muscle
16	chr19:38086600-38098200	Weak transcription	Colonic Mucosa	Colon
17	chr19:38086600-38098800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr19:38086600-38099400	Weak transcription	Fetal Stomach	stomach
19	chr19:38086600-38103200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr19:38086800-38089200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr19:38086800-38090400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr19:38086800-38090400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr19:38086800-38090600	Weak transcription	Primary hematopoietic stem cells	blood
24	chr19:38086800-38090800	Weak transcription	Fetal Intestine Large	intestine
25	chr19:38086800-38091800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr19:38086800-38092000	Weak transcription	Fetal Lung	lung
27	chr19:38086800-38094000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr19:38086800-38095600	Weak transcription	Fetal Kidney	kidney
29	chr19:38087200-38087800	Enhancers	Primary T helper naive cells from peripheral blood	blood
30	chr19:38087200-38087800	Enhancers	Fetal Brain Male	brain
31	chr19:38087200-38088000	Enhancers	Fetal Brain Female	brain
32	chr19:38087200-38088200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
33	chr19:38087200-38088800	Weak transcription	Primary B cells from peripheral blood	blood
34	chr19:38087200-38088800	Weak transcription	Primary T cells from cord blood	blood
35	chr19:38087200-38088800	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr19:38087200-38089000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr19:38087200-38089200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr19:38087200-38089200	Weak transcription	Brain Substantia Nigra	brain
39	chr19:38087200-38089400	Weak transcription	Adipose Nuclei	Adipose
40	chr19:38087200-38089400	Weak transcription	Colon Smooth Muscle	Colon
41	chr19:38087200-38089400	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr19:38087200-38089400	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr19:38087200-38090400	Weak transcription	Duodenum Mucosa	Duodenum
44	chr19:38087200-38090600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr19:38087200-38091800	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr19:38087200-38093200	Weak transcription	Fetal Intestine Small	intestine
47	chr19:38087200-38099400	Weak transcription	Rectal Smooth Muscle	rectum
48	chr19:38087200-38100200	Weak transcription	Right Ventricle	heart
49	chr19:38087200-38103000	Weak transcription	Placenta Amnion	Placenta Amnion
50	chr19:38087400-38087800	Enhancers	Primary T helper naive cells fromperipheralblood	blood

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