Variant report

Variant	rs57072546
Chromosome Location	chr14:104063723-104063724
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	chr14:104056281..104057998-chr14:104062003..104064043,2	K562	blood:

Extended variants
information (count: 59 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10431750	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs10459574	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11540512	0.83[AFR][1000 genomes]
rs11844466	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11851000	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11851616	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12590968	0.83[AFR][1000 genomes]
rs12884809	0.89[AFR][1000 genomes]
rs12887734	0.87[AMR][1000 genomes]
rs12888993	0.83[AFR][1000 genomes]
rs12889403	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12889731	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12890820	0.83[ASN][1000 genomes]
rs12892038	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12894729	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12896171	0.81[AFR][1000 genomes]
rs2274267	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2296482	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2403197	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2896487	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs34000399	0.87[AFR][1000 genomes]
rs34026011	0.88[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs34186780	0.82[ASN][1000 genomes]
rs34843146	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34896432	0.82[ASN][1000 genomes]
rs35026580	0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs35229468	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs35496194	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs35498576	0.82[ASN][1000 genomes]
rs35921969	0.80[ASN][1000 genomes]
rs4525427	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4900590	0.83[AFR][1000 genomes]
rs4906336	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs4906337	0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs4906338	0.88[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs4906347	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4906350	0.90[AFR][1000 genomes]
rs4906356	0.83[AFR][1000 genomes]
rs55751606	0.82[ASN][1000 genomes]
rs58033365	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs60249782	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67899457	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7140568	0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs71417868	0.87[AMR][1000 genomes]
rs71417869	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7148456	0.82[ASN][1000 genomes]
rs7148857	0.83[AFR][1000 genomes]
rs729438	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs8017628	0.86[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs8017993	0.89[AMR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3332028	chr14:103581471-104328811	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
2	nsv832883	chr14:103927687-104120953	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
3	nsv902300	chr14:103967504-104205811	Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
4	nsv902305	chr14:103979953-104073551	Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
5	nsv566022	chr14:104007555-104092789	Genic enhancers Flanking Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
6	nsv1052010	chr14:104061472-104216267	Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
7	nsv542201	chr14:104061472-104216267	Weak transcription Enhancers Genic enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
8	nsv456435	chr14:104061646-104198251	Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
9	nsv566023	chr14:104061646-104198251	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs57072546	KLC1	cis	Whole Blood	GTEx

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:104030800-104073200	Weak transcription	Small Intestine	intestine
2	chr14:104045600-104067200	Weak transcription	Primary B cells from cord blood	blood
3	chr14:104045800-104064200	Weak transcription	Hela-S3	cervix
4	chr14:104055800-104067000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr14:104055800-104073000	Weak transcription	Rectal Smooth Muscle	rectum
6	chr14:104056800-104064000	Weak transcription	A549	lung
7	chr14:104057000-104070800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr14:104057600-104063800	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr14:104057600-104064000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr14:104057600-104064200	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr14:104057600-104064200	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr14:104057600-104064400	Weak transcription	Stomach Smooth Muscle	stomach
13	chr14:104057600-104073400	Weak transcription	Primary T cells from cord blood	blood
14	chr14:104057800-104063800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr14:104057800-104064200	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr14:104057800-104064200	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr14:104057800-104064200	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr14:104057800-104064200	Weak transcription	Osteobl	bone
19	chr14:104057800-104073200	Weak transcription	Fetal Intestine Large	intestine
20	chr14:104057800-104073200	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr14:104057800-104073400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr14:104057800-104073400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr14:104058000-104073400	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr14:104060000-104065000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr14:104060200-104090200	Weak transcription	Pancreas	Pancrea
26	chr14:104060400-104065200	Strong transcription	Fetal Intestine Small	intestine
27	chr14:104060400-104071200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr14:104060800-104064200	Weak transcription	Spleen	Spleen
29	chr14:104060800-104073400	Weak transcription	Lung	lung
30	chr14:104061000-104063800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr14:104061000-104064200	Weak transcription	NHDF-Ad	bronchial
32	chr14:104061000-104069200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr14:104061800-104063800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr14:104061800-104063800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr14:104061800-104064000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr14:104061800-104064000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr14:104061800-104064200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr14:104061800-104064200	Weak transcription	Adipose Nuclei	Adipose
39	chr14:104061800-104064400	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr14:104062000-104063800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr14:104062000-104063800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr14:104062000-104063800	Weak transcription	NHEK	skin
43	chr14:104062000-104064000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr14:104062000-104064200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr14:104062000-104064200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr14:104062000-104064200	Weak transcription	Brain Anterior Caudate	brain
47	chr14:104062000-104064200	Weak transcription	Brain Hippocampus Middle	brain
48	chr14:104062000-104064200	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr14:104062000-104064200	Weak transcription	Left Ventricle	heart
50	chr14:104062000-104064200	Weak transcription	HSMMtube	muscle

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