Variant report

Variant	rs11621593
Chromosome Location	chr14:78224205-78224206
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:78224053-78224239	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr14:78223920-78224257	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr14:78223629-78224403	GM12878	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:78223843..78225909-chr14:78468735..78470823,2	K562	blood:
2	chr14:78223413..78230716-chr14:78265065..78269735,15	MCF-7	breast:
3	chr14:78208675..78210244-chr14:78222102..78225060,2	K562	blood:
4	chr14:78217096..78219959-chr14:78223868..78226613,3	K562	blood:
5	chr14:78222067..78225484-chr14:78225871..78228638,3	K562	blood:
6	chr14:78221316..78225180-chr14:78225446..78228735,5	MCF-7	breast:

No data

Variant related genes	Relation type
C14orf178	TF binding region
ENSG00000100603	Chromatin interaction
ENSG00000063761	Chromatin interaction
ENSG00000197734	Chromatin interaction
ENSG00000268208	Chromatin interaction

Extended variants
information (count: 89 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:85)

rs_ID	r²[population]
rs10139828	0.82[JPT][hapmap]
rs10150446	0.82[JPT][hapmap]
rs10150706	0.82[JPT][hapmap]
rs10162548	0.83[CHD][hapmap]
rs10483884	0.86[GIH][hapmap]
rs11621162	0.81[AFR][1000 genomes]
rs11622176	0.80[CEU][hapmap];0.81[TSI][hapmap]
rs11622293	0.87[ASW][hapmap];0.80[CEU][hapmap];1.00[LWK][hapmap];0.86[MEX][hapmap];0.92[MKK][hapmap];0.86[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes]
rs11622411	0.80[CEU][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs11622449	0.87[ASW][hapmap];0.80[CEU][hapmap];1.00[LWK][hapmap];0.86[MEX][hapmap];0.92[MKK][hapmap];0.86[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes]
rs11623898	0.92[AFR][1000 genomes]
rs11624052	0.80[CEU][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs11624063	0.92[AFR][1000 genomes]
rs11625029	0.92[AFR][1000 genomes]
rs11625607	0.87[ASW][hapmap];0.80[CEU][hapmap];1.00[LWK][hapmap];0.86[MEX][hapmap];0.92[MKK][hapmap];0.86[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes]
rs11625647	0.92[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs11626900	0.92[AFR][1000 genomes]
rs11628795	0.80[CEU][hapmap];0.92[AFR][1000 genomes]
rs11850235	0.84[AFR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17106478	0.82[JPT][hapmap]
rs17106499	0.82[JPT][hapmap]
rs17106558	0.82[JPT][hapmap]
rs17752726	0.87[ASW][hapmap];0.80[CEU][hapmap];1.00[LWK][hapmap];0.86[MEX][hapmap];0.92[MKK][hapmap];0.86[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes]
rs17825434	0.87[ASW][hapmap];0.80[CEU][hapmap];1.00[LWK][hapmap];0.86[MEX][hapmap];0.92[MKK][hapmap];0.86[TSI][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs17825458	0.80[CEU][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs17825620	0.87[ASW][hapmap];0.80[CEU][hapmap];1.00[LWK][hapmap];0.86[MEX][hapmap];0.92[MKK][hapmap];0.86[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes]
rs1985149	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2003594	1.00[ASN][1000 genomes]
rs2111829	0.86[ASW][hapmap];1.00[CEU][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2112135	0.92[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs28393221	0.92[ASN][1000 genomes]
rs28445066	0.80[CEU][hapmap];0.86[TSI][hapmap]
rs4461000	0.80[CEU][hapmap];0.81[TSI][hapmap]
rs4464012	0.80[CEU][hapmap]
rs45444693	0.84[AFR][1000 genomes]
rs45465691	0.92[AFR][1000 genomes]
rs55922310	0.92[AFR][1000 genomes]
rs56003103	0.87[AFR][1000 genomes]
rs56060413	0.87[AFR][1000 genomes]
rs56339806	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6493	1.00[ASW][hapmap];1.00[CEU][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6494	0.80[CEU][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs7140838	0.92[AFR][1000 genomes]
rs7148685	0.92[AFR][1000 genomes]
rs7151836	1.00[ASN][1000 genomes]
rs7153025	0.82[JPT][hapmap]
rs7155062	0.87[ASW][hapmap];0.80[CEU][hapmap];1.00[LWK][hapmap];0.86[MEX][hapmap];0.92[MKK][hapmap];0.86[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes]
rs7160485	0.82[JPT][hapmap]
rs72685236	1.00[ASN][1000 genomes]
rs72685238	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72685244	0.81[AFR][1000 genomes]
rs72685246	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72685260	0.81[AFR][1000 genomes]
rs72685267	1.00[ASN][1000 genomes]
rs72685273	0.81[AFR][1000 genomes]
rs72685280	0.87[AFR][1000 genomes]
rs72685281	0.87[AFR][1000 genomes]
rs72685293	0.92[AFR][1000 genomes]
rs72685296	0.87[AFR][1000 genomes]
rs72685297	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72685300	0.92[AFR][1000 genomes]
rs72685302	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72687205	0.92[AFR][1000 genomes]
rs72687216	0.87[AFR][1000 genomes]
rs72687217	0.92[AFR][1000 genomes]
rs72687218	0.92[AFR][1000 genomes]
rs72687223	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72687228	0.92[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs72687229	0.92[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs72687241	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72687246	0.92[AFR][1000 genomes]
rs72687247	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72687250	0.92[AFR][1000 genomes]
rs72687251	0.92[AFR][1000 genomes]
rs72687256	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72687261	0.92[AFR][1000 genomes]
rs72688829	0.84[AFR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72688836	0.92[ASN][1000 genomes]
rs7492501	1.00[ASN][1000 genomes]
rs8015313	0.80[CEU][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes]
rs8015796	1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs8015938	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs9323652	0.82[JPT][hapmap]
rs9323654	0.82[JPT][hapmap]
rs9972189	0.82[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758362	chr14:78074180-78262572	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	esv2759998	chr14:78074180-78262572	Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	nsv1043788	chr14:78178490-78381190	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	esv2754594	chr14:78222798-78275549	Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11621593	ALDH6A1	cis	parietal	SCAN
rs11621593	ZFYVE1	cis	parietal	SCAN

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:78176200-78225400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr14:78199000-78225200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr14:78199600-78225000	Weak transcription	Fetal Heart	heart
4	chr14:78201600-78226600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr14:78207600-78224800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
6	chr14:78207600-78225400	Strong transcription	Placenta	Placenta
7	chr14:78212800-78225600	Weak transcription	Stomach Mucosa	stomach
8	chr14:78214200-78226600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr14:78216400-78225000	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr14:78216400-78225400	Weak transcription	Esophagus	oesophagus
11	chr14:78216600-78224800	Weak transcription	Pancreas	Pancrea
12	chr14:78216800-78225200	Weak transcription	NHLF	lung
13	chr14:78217000-78225000	Weak transcription	HSMMtube	muscle
14	chr14:78217000-78226600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr14:78217400-78224800	Weak transcription	Brain Substantia Nigra	brain
16	chr14:78217600-78225200	Weak transcription	Gastric	stomach
17	chr14:78217600-78225200	Weak transcription	Spleen	Spleen
18	chr14:78217600-78225400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr14:78217800-78225200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr14:78217800-78225200	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr14:78218000-78225200	Weak transcription	Brain Angular Gyrus	brain
22	chr14:78218000-78226400	Weak transcription	Aorta	Aorta
23	chr14:78218200-78225400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr14:78218200-78226400	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr14:78218400-78225000	Weak transcription	Small Intestine	intestine
26	chr14:78218400-78225200	Weak transcription	Left Ventricle	heart
27	chr14:78218400-78225200	Weak transcription	Ovary	ovary
28	chr14:78218400-78226000	Weak transcription	Colonic Mucosa	Colon
29	chr14:78218400-78226400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr14:78219600-78225800	Weak transcription	HUVEC	blood vessel
31	chr14:78219800-78224800	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr14:78219800-78225200	Weak transcription	Right Ventricle	heart
33	chr14:78219800-78225200	Weak transcription	HMEC	breast
34	chr14:78219800-78226400	Weak transcription	HSMM	muscle
35	chr14:78220000-78224800	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr14:78220000-78225000	Weak transcription	Brain Hippocampus Middle	brain
37	chr14:78220000-78226000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr14:78220200-78224600	Weak transcription	Primary hematopoietic stem cells	blood
39	chr14:78220400-78225200	Weak transcription	Lung	lung
40	chr14:78221000-78225000	Strong transcription	A549	lung
41	chr14:78221000-78225200	Weak transcription	Stomach Smooth Muscle	stomach
42	chr14:78221000-78225400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr14:78221200-78225200	Weak transcription	Fetal Kidney	kidney
44	chr14:78221200-78225400	Weak transcription	NHDF-Ad	bronchial
45	chr14:78221400-78224800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr14:78221400-78224800	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr14:78221400-78225000	Weak transcription	Osteobl	bone
48	chr14:78221400-78225200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr14:78221400-78225200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr14:78221400-78225200	Weak transcription	Fetal Brain Male	brain

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