Variant report

Variant	rs4525427
Chromosome Location	chr14:104072793-104072794
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:104072647..104074865-chr14:104093970..104096322,2	K562	blood:
2	chr14:104071968..104075598-chr14:104093991..104095637,3	MCF-7	breast:
3	chr14:104071103..104073870-chr14:104094480..104096781,3	MCF-7	breast:
4	chr14:104065721..104068603-chr14:104071078..104073262,2	K562	blood:

Variant related genes	Relation type
ENSG00000126214	Chromatin interaction

Extended variants
information (count: 67 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10431750	0.82[ASN][1000 genomes]
rs10459574	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11540512	0.87[AFR][1000 genomes]
rs11844466	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11846404	0.83[AFR][1000 genomes]
rs11846838	0.81[AFR][1000 genomes]
rs11851000	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11851616	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12590968	0.87[AFR][1000 genomes]
rs12884809	0.92[AFR][1000 genomes]
rs12887734	0.84[AMR][1000 genomes]
rs12888993	0.87[AFR][1000 genomes]
rs12889403	0.82[ASN][1000 genomes]
rs12889731	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12890820	0.82[ASN][1000 genomes]
rs12892038	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12894729	0.82[ASN][1000 genomes]
rs12896171	0.85[AFR][1000 genomes]
rs1606	0.83[AFR][1000 genomes]
rs1799796	0.83[AFR][1000 genomes]
rs2274267	0.82[ASN][1000 genomes]
rs2296482	0.82[ASN][1000 genomes]
rs2403197	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2896487	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs3212038	0.81[AFR][1000 genomes]
rs3212076	0.83[AFR][1000 genomes]
rs3212090	0.83[AFR][1000 genomes]
rs34000399	0.91[AFR][1000 genomes]
rs34026011	0.86[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs34186780	0.81[ASN][1000 genomes]
rs34843146	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34896432	0.81[ASN][1000 genomes]
rs35011804	0.83[AFR][1000 genomes]
rs35026580	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs35229468	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs35496194	0.82[ASN][1000 genomes]
rs35498576	0.81[ASN][1000 genomes]
rs4900590	0.87[AFR][1000 genomes]
rs4900591	0.83[AFR][1000 genomes]
rs4906336	0.82[ASN][1000 genomes]
rs4906337	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs4906338	0.86[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs4906347	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4906350	0.94[AFR][1000 genomes]
rs4906356	0.87[AFR][1000 genomes]
rs55751606	0.81[ASN][1000 genomes]
rs57072546	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs58033365	0.82[ASN][1000 genomes]
rs60249782	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs67899457	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7140568	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs71417868	0.84[AMR][1000 genomes]
rs71417869	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7148456	0.81[ASN][1000 genomes]
rs7148857	0.87[AFR][1000 genomes]
rs729438	0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs8017628	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs8017993	0.87[AMR][1000 genomes];0.82[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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4525427	RP11-73M18.8	cis	Whole Blood	GTEx
rs4525427	KLC1	cis	Whole Blood	GTEx

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:104030800-104073200	Weak transcription	Small Intestine	intestine
2	chr14:104055800-104073000	Weak transcription	Rectal Smooth Muscle	rectum
3	chr14:104057600-104073400	Weak transcription	Primary T cells from cord blood	blood
4	chr14:104057800-104073200	Weak transcription	Fetal Intestine Large	intestine
5	chr14:104057800-104073200	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr14:104057800-104073400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr14:104057800-104073400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr14:104058000-104073400	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr14:104060200-104090200	Weak transcription	Pancreas	Pancrea
10	chr14:104060800-104073400	Weak transcription	Lung	lung
11	chr14:104062000-104073200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr14:104062000-104073400	Weak transcription	Ovary	ovary
13	chr14:104062200-104073200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr14:104062200-104073400	Weak transcription	Brain Germinal Matrix	brain
15	chr14:104063200-104072800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr14:104064600-104073000	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr14:104064600-104073400	Weak transcription	Brain Angular Gyrus	brain
18	chr14:104064800-104073000	Weak transcription	Fetal Muscle Leg	muscle
19	chr14:104064800-104073200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr14:104064800-104073200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr14:104064800-104073400	Weak transcription	NHEK	skin
22	chr14:104064800-104073600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr14:104065000-104072800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr14:104065000-104073200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr14:104065000-104073200	Weak transcription	Fetal Muscle Trunk	muscle
26	chr14:104065000-104073400	Weak transcription	Fetal Brain Female	brain
27	chr14:104070200-104073000	Weak transcription	Brain Cingulate Gyrus	brain
28	chr14:104071200-104072800	Weak transcription	Fetal Thymus	thymus
29	chr14:104071200-104072800	Weak transcription	Dnd41	blood
30	chr14:104071200-104073400	Weak transcription	K562	blood
31	chr14:104071400-104073200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr14:104071800-104074400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr14:104072000-104073200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr14:104072000-104073800	Enhancers	Placenta	Placenta
35	chr14:104072200-104073200	Weak transcription	HSMMtube	muscle
36	chr14:104072400-104072800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr14:104072400-104073200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr14:104072600-104073000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr14:104072600-104073000	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr14:104072600-104073000	Weak transcription	Stomach Smooth Muscle	stomach
41	chr14:104072600-104073200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr14:104072600-104073400	Enhancers	Thymus	Thymus

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