Variant report

Variant	rs2814388
Chromosome Location	chr6:80267032-80267033
allele	A/G
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	ZNF274	chr6:80266863-80267128	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:80265289..80267269-chr6:80272015..80273639,2	K562	blood:

Variant related genes	Relation type
ENSG00000272137	TF binding region

Extended variants
information (count: 38 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs12206063	0.86[JPT][hapmap]
rs12208969	0.84[CHB][hapmap];0.92[JPT][hapmap]
rs1485363	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1485364	0.96[YRI][hapmap];0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1485365	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1827628	0.85[JPT][hapmap]
rs2220191	0.82[CEU][hapmap];0.86[JPT][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2575197	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2575200	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2575201	0.86[JPT][hapmap]
rs2575214	0.82[CEU][hapmap];0.86[JPT][hapmap];0.90[YRI][hapmap];0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2575215	0.82[CEU][hapmap];0.86[JPT][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2575216	0.82[CEU][hapmap];0.86[JPT][hapmap];0.90[YRI][hapmap];0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2575217	0.81[CEU][hapmap];0.85[JPT][hapmap];0.85[YRI][hapmap];0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2575218	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2629468	0.81[CEU][hapmap];0.86[JPT][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2655675	0.82[CEU][hapmap];0.86[JPT][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2655676	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2655678	0.82[CEU][hapmap];0.92[JPT][hapmap];0.88[YRI][hapmap];0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2655687	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2655688	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2803174	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2803175	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2803186	0.86[JPT][hapmap]
rs2803194	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2812698	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs767789	1.00[CEU][hapmap];0.85[JPT][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7753415	0.85[JPT][hapmap]
rs971806	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[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	nsv1028607	chr6:79853272-80767716	Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv886301	chr6:80111104-80339088	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv886302	chr6:80111104-80355973	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv1027388	chr6:80113449-80355973	ZNF genes & repeats Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	nsv830707	chr6:80134625-80325171	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
6	nsv1029259	chr6:80142754-80340332	Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
7	nsv463906	chr6:80240951-80313297	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv604052	chr6:80240951-80313297	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
9	nsv1018318	chr6:80241029-80465282	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2814388	SFRS3	Cis_chr	lymphoblastoid	RTeQTL

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:80247600-80267800	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr6:80248800-80272000	Weak transcription	Ovary	ovary
3	chr6:80254400-80267800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr6:80254400-80271400	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr6:80254400-80273000	Weak transcription	Left Ventricle	heart
6	chr6:80254600-80273800	Weak transcription	Stomach Mucosa	stomach
7	chr6:80255000-80280000	Weak transcription	Aorta	Aorta
8	chr6:80255200-80267800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr6:80255600-80279400	Weak transcription	HMEC	breast
10	chr6:80255600-80280000	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr6:80255800-80275400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr6:80256000-80280600	Weak transcription	Adipose Nuclei	Adipose
13	chr6:80256400-80267200	Weak transcription	Brain Cingulate Gyrus	brain
14	chr6:80256400-80267600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr6:80257200-80268600	Weak transcription	Spleen	Spleen
16	chr6:80257400-80268000	Weak transcription	Fetal Stomach	stomach
17	chr6:80257400-80273200	Weak transcription	Pancreas	Pancrea
18	chr6:80257400-80278600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr6:80257400-80278600	Weak transcription	Fetal Kidney	kidney
20	chr6:80257600-80274200	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr6:80257800-80277800	Weak transcription	Fetal Intestine Small	intestine
22	chr6:80258600-80279200	Weak transcription	Fetal Lung	lung
23	chr6:80260600-80272800	Weak transcription	Primary hematopoietic stem cells	blood
24	chr6:80260600-80274400	Weak transcription	Fetal Brain Female	brain
25	chr6:80260600-80278600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr6:80260800-80275400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr6:80260800-80280200	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr6:80260800-80280200	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr6:80260800-80280400	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr6:80260800-80283000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr6:80261400-80271600	Weak transcription	Fetal Muscle Trunk	muscle
32	chr6:80261800-80280200	Weak transcription	Fetal Muscle Leg	muscle
33	chr6:80263200-80268400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr6:80263200-80270000	Weak transcription	HSMM	muscle
35	chr6:80263200-80280200	Weak transcription	Brain Anterior Caudate	brain
36	chr6:80263400-80267200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr6:80263400-80267200	Weak transcription	HepG2	liver
38	chr6:80264400-80270000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr6:80266600-80272200	Weak transcription	Esophagus	oesophagus

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