Variant report

Variant	rs62087474
Chromosome Location	chr18:9365869-9365870
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	chr18:9359169..9361236-chr18:9364960..9366916,2	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs61067716	0.91[ASN][1000 genomes]
rs62087470	0.90[ASN][1000 genomes]
rs62087475	0.83[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs62087477	0.94[ASN][1000 genomes]
rs62087497	0.94[ASN][1000 genomes]
rs72941944	0.83[AFR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916373	chr18:9026803-9592201	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv1056407	chr18:9144345-9553764	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	nsv1062025	chr18:9287249-9552470	Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv543643	chr18:9287249-9552470	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	nsv909365	chr18:9299538-9400422	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9335400-9369400	Weak transcription	Pancreas	Pancrea
2	chr18:9335400-9371400	Weak transcription	Gastric	stomach
3	chr18:9335600-9366200	Weak transcription	Left Ventricle	heart
4	chr18:9335600-9372600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr18:9335800-9366200	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr18:9335800-9367600	Weak transcription	Fetal Thymus	thymus
7	chr18:9335800-9367600	Weak transcription	Lung	lung
8	chr18:9335800-9370200	Weak transcription	Adipose Nuclei	Adipose
9	chr18:9336000-9366200	Weak transcription	Brain Angular Gyrus	brain
10	chr18:9338400-9366200	Weak transcription	Brain Anterior Caudate	brain
11	chr18:9338800-9366000	Weak transcription	Brain Hippocampus Middle	brain
12	chr18:9341000-9371800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr18:9341200-9366400	Weak transcription	Brain Substantia Nigra	brain
14	chr18:9341200-9367400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr18:9341200-9391400	Weak transcription	Liver	Liver
16	chr18:9341200-9403800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr18:9341400-9366200	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr18:9344000-9366000	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr18:9344000-9367400	Weak transcription	Primary hematopoietic stem cells	blood
20	chr18:9344200-9367600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr18:9344200-9367800	Weak transcription	Primary B cells from cord blood	blood
22	chr18:9344400-9404200	Weak transcription	Primary T cells from cord blood	blood
23	chr18:9345200-9367400	Weak transcription	Fetal Brain Female	brain
24	chr18:9345600-9367000	Weak transcription	Fetal Intestine Large	intestine
25	chr18:9345600-9367400	Weak transcription	Placenta	Placenta
26	chr18:9345600-9377600	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr18:9348600-9369600	Weak transcription	K562	blood
28	chr18:9348800-9366400	Weak transcription	Fetal Kidney	kidney
29	chr18:9348800-9367400	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr18:9348800-9367600	Weak transcription	NHDF-Ad	bronchial
31	chr18:9349000-9367400	Weak transcription	Dnd41	blood
32	chr18:9349200-9366000	Weak transcription	HUVEC	blood vessel
33	chr18:9352800-9366200	Weak transcription	Colon Smooth Muscle	Colon
34	chr18:9354400-9380400	Weak transcription	NHLF	lung
35	chr18:9358800-9367400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr18:9359400-9366200	Weak transcription	Ovary	ovary
37	chr18:9359400-9369200	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr18:9359600-9369200	Weak transcription	Spleen	Spleen
39	chr18:9360200-9366400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr18:9360400-9403000	Weak transcription	Primary T cells fromperipheralblood	blood
41	chr18:9360600-9374000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr18:9361400-9366600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr18:9361600-9366000	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr18:9361600-9369000	Weak transcription	Primary monocytes fromperipheralblood	blood
45	chr18:9361800-9380200	Weak transcription	Small Intestine	intestine
46	chr18:9362000-9366200	Weak transcription	Fetal Muscle Leg	muscle
47	chr18:9362000-9367200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr18:9362000-9367200	Weak transcription	Fetal Muscle Trunk	muscle
49	chr18:9362000-9367400	Weak transcription	Fetal Lung	lung
50	chr18:9362000-9369600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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