Variant report

Variant	rs1618761
Chromosome Location	chr4:57938714-57938715
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr4:57938620-57938770	A549	lung:	n/a	n/a

Variant related genes	Relation type
UBE2CP3	TF binding region

Extended variants
information (count: 28 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10016108	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10016200	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11133472	1.00[CHB][hapmap]
rs11573041	1.00[CHB][hapmap]
rs11573128	1.00[CHB][hapmap]
rs11732394	1.00[CHB][hapmap]
rs13125082	1.00[CHB][hapmap]
rs13146090	1.00[CHB][hapmap]
rs13146153	1.00[CHB][hapmap]
rs17087358	1.00[CHB][hapmap]
rs17183291	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1718846	1.00[CHB][hapmap]
rs1718848	0.92[CEU][hapmap];1.00[CHB][hapmap];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17787430	1.00[ASN][1000 genomes]
rs35174788	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4109037	1.00[CHB][hapmap]
rs41495551	1.00[CHB][hapmap]
rs4865175	0.87[ASN][1000 genomes]
rs4865176	1.00[CEU][hapmap];1.00[CHB][hapmap];0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4865177	1.00[CHB][hapmap];0.87[ASN][1000 genomes]
rs62308281	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62308282	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6554413	1.00[ASN][1000 genomes]
rs67355508	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73242639	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7656865	1.00[CHB][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	nsv868815	chr4:57114268-58084688	Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
2	esv3393902	chr4:57935600-57939401	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region CpG island	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1618761	KIAA1345	Cis_chr	lymphoblastoid	RTeQTL

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:57899600-57942200	Weak transcription	Primary hematopoietic stem cells	blood
2	chr4:57929600-57944400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr4:57931600-57940600	Weak transcription	Hela-S3	cervix
4	chr4:57931800-57938800	Weak transcription	Pancreas	Pancrea
5	chr4:57932400-57945600	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr4:57932400-57947600	Genic enhancers	Osteobl	bone
7	chr4:57932600-57944000	Weak transcription	Fetal Stomach	stomach
8	chr4:57934400-57951600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr4:57934600-57948200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr4:57935600-57944000	Weak transcription	Fetal Thymus	thymus
11	chr4:57935800-57938800	Weak transcription	Right Ventricle	heart
12	chr4:57935800-57940000	Weak transcription	Spleen	Spleen
13	chr4:57935800-57941000	Weak transcription	HUVEC	blood vessel
14	chr4:57935800-57945000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr4:57935800-57948000	Weak transcription	Fetal Muscle Leg	muscle
16	chr4:57936200-57938800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr4:57936200-57945000	Weak transcription	Fetal Muscle Trunk	muscle
18	chr4:57936400-57939200	Enhancers	A549	lung
19	chr4:57936400-57942000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr4:57936800-57938800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr4:57937200-57939200	Enhancers	Fetal Heart	heart
22	chr4:57937200-57939600	Enhancers	Right Atrium	heart
23	chr4:57937200-57940600	Enhancers	Left Ventricle	heart
24	chr4:57937400-57941400	Weak transcription	Fetal Intestine Large	intestine
25	chr4:57937400-57948000	Weak transcription	Brain Cingulate Gyrus	brain
26	chr4:57937600-57940600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr4:57937600-57940600	Weak transcription	Small Intestine	intestine
28	chr4:57937600-57940600	Weak transcription	HSMM	muscle
29	chr4:57937600-57940600	Weak transcription	NHDF-Ad	bronchial
30	chr4:57937600-57942600	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr4:57937600-57944200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr4:57937800-57938800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr4:57937800-57939800	Weak transcription	Ovary	ovary
34	chr4:57937800-57940000	Weak transcription	Aorta	Aorta
35	chr4:57937800-57940600	Weak transcription	Colon Smooth Muscle	Colon
36	chr4:57937800-57940800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr4:57937800-57942000	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr4:57937800-57943800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr4:57937800-57944000	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr4:57937800-57945000	Weak transcription	Brain Anterior Caudate	brain
41	chr4:57937800-57946800	Weak transcription	Adipose Nuclei	Adipose
42	chr4:57938000-57938800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr4:57938000-57938800	Weak transcription	Stomach Smooth Muscle	stomach
44	chr4:57938000-57939000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr4:57938000-57939000	Weak transcription	NHLF	lung
46	chr4:57938000-57939800	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr4:57938000-57939800	Weak transcription	HMEC	breast
48	chr4:57938000-57940000	Weak transcription	Fetal Kidney	kidney
49	chr4:57938000-57940400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr4:57938000-57940400	Weak transcription	NHEK	skin

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