Variant report

Variant	rs4865176
Chromosome Location	chr4:57944831-57944832
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	chr4:57943158..57945422-chr4:57946459..57948764,2	K562	blood:
2	chr4:57944252..57946823-chr4:57975911..57977962,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000163453	Chromatin interaction
ENSG00000245067	Chromatin interaction

Extended variants
information (count: 27 )
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];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10016200	0.87[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]
rs1618761	1.00[CEU][hapmap];1.00[CHB][hapmap];0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17087358	1.00[CHB][hapmap]
rs17183291	1.00[CHB][hapmap];0.87[ASN][1000 genomes]
rs1718846	1.00[CHB][hapmap]
rs1718848	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17787430	0.87[ASN][1000 genomes]
rs35174788	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4109037	1.00[CHB][hapmap]
rs41495551	1.00[CHB][hapmap]
rs4865175	1.00[ASN][1000 genomes]
rs4865177	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs62308281	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62308282	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6554413	0.87[ASN][1000 genomes]
rs67355508	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73242639	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7656865	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:1 , 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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4865176	KIAA1345	Cis_chr	lymphoblastoid	RTeQTL

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:57932400-57945600	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr4:57932400-57947600	Genic enhancers	Osteobl	bone
3	chr4:57934400-57951600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr4:57934600-57948200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr4:57935800-57945000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr4:57935800-57948000	Weak transcription	Fetal Muscle Leg	muscle
7	chr4:57936200-57945000	Weak transcription	Fetal Muscle Trunk	muscle
8	chr4:57937400-57948000	Weak transcription	Brain Cingulate Gyrus	brain
9	chr4:57937800-57945000	Weak transcription	Brain Anterior Caudate	brain
10	chr4:57937800-57946800	Weak transcription	Adipose Nuclei	Adipose
11	chr4:57938000-57945600	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr4:57938000-57955800	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr4:57938800-57947000	Weak transcription	Esophagus	oesophagus
14	chr4:57939800-57949800	Enhancers	HMEC	breast
15	chr4:57940000-57946200	Weak transcription	Lung	lung
16	chr4:57941200-57945000	Weak transcription	Small Intestine	intestine
17	chr4:57941400-57947000	Weak transcription	Brain Substantia Nigra	brain
18	chr4:57941800-57945000	Weak transcription	Fetal Intestine Large	intestine
19	chr4:57942000-57945200	Weak transcription	Hela-S3	cervix
20	chr4:57942000-57947000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr4:57942000-57947800	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr4:57942200-57945000	Weak transcription	NHDF-Ad	bronchial
23	chr4:57942200-57946600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr4:57942400-57945000	Weak transcription	Brain Hippocampus Middle	brain
25	chr4:57942600-57945600	Weak transcription	Primary hematopoietic stem cells	blood
26	chr4:57942800-57945000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr4:57942800-57947000	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr4:57942800-57947000	Enhancers	HUVEC	blood vessel
29	chr4:57942800-57960400	Weak transcription	Psoas Muscle	Psoas
30	chr4:57943000-57945000	Enhancers	NHEK	skin
31	chr4:57943200-57950000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr4:57943600-57945800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr4:57943600-57946000	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr4:57943800-57945000	Enhancers	Rectal Smooth Muscle	rectum
35	chr4:57943800-57945000	Enhancers	Stomach Smooth Muscle	stomach
36	chr4:57943800-57945000	Enhancers	NH-A	brain
37	chr4:57943800-57945200	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr4:57943800-57945400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
39	chr4:57943800-57945800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr4:57943800-57946800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr4:57943800-57948600	Enhancers	HSMM	muscle
42	chr4:57943800-57950200	Enhancers	NHLF	lung
43	chr4:57944000-57945000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr4:57944000-57945000	Enhancers	HUES6 Cell Line	embryonic stem cell
45	chr4:57944000-57945200	Enhancers	iPS-18 Cell Line	embryonic stem cell
46	chr4:57944000-57946200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr4:57944000-57947000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
48	chr4:57944000-57947000	Genic enhancers	HSMMtube	muscle
49	chr4:57944000-57948200	Enhancers	Fetal Lung	lung
50	chr4:57944000-57948400	Enhancers	Fetal Stomach	stomach

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