Variant report

Variant	rs2814712
Chromosome Location	chr6:88396322-88396323
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:88389146..88392060-chr6:88395023..88397672,4	K562	blood:
2	chr6:88370220..88371861-chr6:88394700..88396720,2	K562	blood:
3	chr6:88395462..88397221-chr6:88400154..88401972,2	K562	blood:
4	chr6:88384987..88388432-chr6:88394955..88398882,4	K562	blood:
5	chr6:88391233..88396986-chr6:88407673..88412388,9	K562	blood:
6	chr6:88384987..88386595-chr6:88394955..88397746,2	K562	blood:
7	chr6:88394474..88397021-chr6:88403318..88405135,2	K562	blood:
8	chr6:88388778..88396986-chr6:88407117..88413072,10	K562	blood:
9	chr6:88389765..88392894-chr6:88395067..88397964,5	K562	blood:

No data

Variant related genes	Relation type
ENSG00000135334	Chromatin interaction

Extended variants
information (count: 84 )
Associated
traits (count: 13 )

rSNPs within LD-proxies of this variant (count:79)

rs_ID	r²[population]
rs1051131	0.96[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.80[EUR][1000 genomes]
rs1051148	0.92[CEU][hapmap];0.86[CHB][hapmap];0.93[CHD][hapmap];0.84[GIH][hapmap];0.95[JPT][hapmap];0.85[MEX][hapmap];0.98[TSI][hapmap]
rs10755484	0.92[CEU][hapmap];0.86[CHB][hapmap];0.93[CHD][hapmap];0.84[GIH][hapmap];0.95[JPT][hapmap];0.95[MEX][hapmap];0.98[TSI][hapmap];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13193380	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13194003	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2246113	1.00[CEU][hapmap];0.82[CHB][hapmap];0.83[CHD][hapmap];0.81[GIH][hapmap];0.91[JPT][hapmap];0.88[LWK][hapmap];0.86[MEX][hapmap];0.89[MKK][hapmap];0.98[TSI][hapmap];0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2300906	0.96[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.80[EUR][1000 genomes]
rs2300909	0.96[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap]
rs2307379	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2325064	0.83[EUR][1000 genomes]
rs2754245	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];0.95[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap]
rs2754247	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2754248	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2754260	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2754262	1.00[CEU][hapmap];0.85[CHD][hapmap];0.84[GIH][hapmap];0.91[JPT][hapmap];0.81[LWK][hapmap];0.91[MEX][hapmap];0.90[MKK][hapmap];0.98[TSI][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2754264	0.84[EUR][1000 genomes]
rs2787893	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2787921	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2787924	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2787927	0.82[ASW][hapmap];1.00[CEU][hapmap];0.83[CHD][hapmap];0.91[JPT][hapmap];0.88[LWK][hapmap];0.86[MEX][hapmap];0.89[MKK][hapmap];0.98[TSI][hapmap]
rs2787934	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs3757368	0.96[CEU][hapmap];0.86[CHB][hapmap];0.93[CHD][hapmap];0.84[GIH][hapmap];0.95[JPT][hapmap];0.95[MEX][hapmap];0.98[TSI][hapmap];0.83[EUR][1000 genomes]
rs3934838	0.96[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4334949	0.96[CEU][hapmap];0.86[CHB][hapmap];0.93[CHD][hapmap];0.84[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4464759	0.92[CEU][hapmap];0.86[CHB][hapmap];0.93[CHD][hapmap];0.84[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4498321	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4587138	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4587143	0.96[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4706294	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4707373	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4707374	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4707376	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4707377	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4707379	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4707382	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4707383	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6454631	0.81[CHB][hapmap];0.95[JPT][hapmap]
rs6454632	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6454636	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6454638	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6454640	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6454641	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6906769	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6908386	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6911364	0.87[YRI][hapmap]
rs6916732	0.96[CEU][hapmap];0.85[CHB][hapmap];0.95[JPT][hapmap];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6918909	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6928160	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6930600	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6931069	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6940150	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7741825	0.91[JPT][hapmap];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7742965	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7746465	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7750207	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7752494	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7755167	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7757636	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7757794	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7762864	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7772561	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7773906	0.96[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9444512	0.83[EUR][1000 genomes]
rs9444519	0.96[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9444522	0.87[CEU][hapmap];0.89[CHB][hapmap];0.95[JPT][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9444524	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9444525	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9444526	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9444530	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9450723	0.96[CEU][hapmap];0.86[CHB][hapmap];0.93[CHD][hapmap];0.95[JPT][hapmap];0.83[EUR][1000 genomes]
rs9450732	0.96[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9450733	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9450738	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9450739	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9450744	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9450752	0.92[CEU][hapmap];0.86[CHB][hapmap];0.93[CHD][hapmap];0.82[GIH][hapmap];0.95[JPT][hapmap];0.95[MEX][hapmap];0.98[TSI][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9450755	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9450762	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs985764	0.96[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1031460	chr6:88153079-88410050	Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	nsv1026482	chr6:88164934-88409728	Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv1027706	chr6:88168987-88409728	Genic enhancers Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	esv2758068	chr6:88358988-88441473	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	esv2759454	chr6:88358988-88441473	Strong transcription Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:13)

SNP	Gene	Cis/trans	Tissue	Source
rs2814712	GJB7	cis	cerebellum	SCAN
rs2814712	SLC35A1	cis	multi-tissue	Pritchard
rs2814712	C6orf162	cis	cerebellum	SCAN
rs2814712	SLC35A1	cis	lymphoblastoid	seeQTL
rs2814712	C6orf162	Cis_1M	lymphoblastoid	RTeQTL
rs2814712	SLC35A1	Cis_1M	lymphoblastoid	RTeQTL
rs2814712	SNORD50A	cis	cerebellum	SCAN
rs2814712	C6orf164	cis	Thyroid	GTEx
rs2814712	SLC35A1	cis	parietal	SCAN
rs2814712	C6orf162	cis	parietal	SCAN
rs2814712	C6orf166	Cis_1M	lymphoblastoid	RTeQTL
rs2814712	ZNF292	cis	Lymphoblastoid	GTEx
rs2814712	SLC35A1	cis	Lymphoblastoid	GTEx

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:88305000-88398800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr6:88314200-88399200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr6:88320400-88400800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr6:88339200-88396800	Weak transcription	Right Ventricle	heart
5	chr6:88349400-88397400	Weak transcription	Ovary	ovary
6	chr6:88363000-88408200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr6:88381400-88400600	Weak transcription	Right Atrium	heart
8	chr6:88385400-88399800	Weak transcription	Brain Hippocampus Middle	brain
9	chr6:88385400-88401200	Weak transcription	Fetal Heart	heart
10	chr6:88385800-88398600	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr6:88385800-88399200	Weak transcription	Brain Anterior Caudate	brain
12	chr6:88386000-88396400	Weak transcription	Lung	lung
13	chr6:88386200-88399000	Weak transcription	Gastric	stomach
14	chr6:88387400-88398600	Weak transcription	Stomach Smooth Muscle	stomach
15	chr6:88387600-88397000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr6:88387600-88407000	Weak transcription	Fetal Kidney	kidney
17	chr6:88387800-88400600	Weak transcription	K562	blood
18	chr6:88388000-88397200	Weak transcription	Brain Cingulate Gyrus	brain
19	chr6:88388000-88401400	Weak transcription	Placenta	Placenta
20	chr6:88388000-88410400	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr6:88389200-88406800	Weak transcription	Fetal Stomach	stomach
22	chr6:88389400-88396400	Weak transcription	Fetal Muscle Trunk	muscle
23	chr6:88389600-88401400	Weak transcription	Fetal Brain Female	brain
24	chr6:88390200-88401200	Enhancers	Skeletal Muscle Male	skeletal muscle
25	chr6:88390400-88398800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr6:88390400-88399600	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr6:88390400-88400400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr6:88390400-88400800	Weak transcription	Pancreas	Pancrea
29	chr6:88390400-88401200	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr6:88390400-88401400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr6:88390400-88401800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr6:88390400-88405600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr6:88390400-88410000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr6:88391000-88405200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr6:88391200-88400800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr6:88391400-88400800	Weak transcription	Brain Germinal Matrix	brain
37	chr6:88391400-88400800	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr6:88391600-88399400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr6:88391800-88399600	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr6:88392000-88399200	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr6:88392000-88399200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr6:88392000-88400000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr6:88392000-88401200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr6:88392200-88400000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr6:88392200-88405200	Weak transcription	Fetal Brain Male	brain
46	chr6:88392400-88397000	Weak transcription	Fetal Thymus	thymus
47	chr6:88392400-88400600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr6:88392400-88400800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr6:88392400-88401400	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr6:88392400-88407200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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