Variant report

Variant	rs6471248
Chromosome Location	chr8:91705145-91705146
allele	C/G
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:91704605..91706263-chr8:91708143..91710693,2	MCF-7	breast:
2	chr8:91703739..91707372-chr8:91708045..91711511,5	K562	blood:
3	chr8:91653608..91662753-chr8:91702053..91707757,26	MCF-7	breast:
4	chr8:91699039..91701699-chr8:91701924..91705332,3	MCF-7	breast:
5	chr8:91656428..91660411-chr8:91700903..91705938,6	MCF-7	breast:
6	chr8:91704585..91708027-chr8:91711099..91715067,9	MCF-7	breast:
7	chr8:91655311..91659894-chr8:91701508..91706218,8	K562	blood:
8	chr8:91703063..91706391-chr8:91765504..91767653,3	MCF-7	breast:
9	chr8:91702608..91708143-chr8:91763380..91770972,10	MCF-7	breast:
10	chr8:91704437..91707166-chr8:91906109..91908383,2	MCF-7	breast:
11	chr8:91704726..91706793-chr8:91760204..91762419,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000180694	Chromatin interaction
ENSG00000254182	Chromatin interaction
ENSG00000246792	Chromatin interaction

Extended variants
information (count: 131 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:128)

rs_ID	r²[population]
rs10086155	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs10090406	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs10091274	0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs10808624	0.86[CEU][hapmap];0.85[CHB][hapmap];0.94[JPT][hapmap];0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs10808625	0.85[CEU][hapmap];0.85[CHB][hapmap];0.88[JPT][hapmap];0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs10808626	0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs10808630	0.96[CEU][hapmap];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10956763	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10956764	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10956765	0.96[CEU][hapmap];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10956766	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10956767	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10956768	0.87[EUR][1000 genomes]
rs10956769	0.87[EUR][1000 genomes]
rs10956770	0.96[CEU][hapmap]
rs10956775	0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10956776	0.96[CEU][hapmap];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10956777	0.96[CEU][hapmap];0.93[EUR][1000 genomes]
rs1125502	0.83[CEU][hapmap];0.80[CHB][hapmap];0.83[JPT][hapmap];0.81[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs11777332	0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11990842	0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12542205	0.93[EUR][1000 genomes]
rs12542223	0.93[EUR][1000 genomes]
rs12542788	0.93[EUR][1000 genomes]
rs12544556	0.93[EUR][1000 genomes]
rs12545337	0.93[EUR][1000 genomes]
rs12548491	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12548862	0.83[ASN][1000 genomes]
rs12550194	0.96[CEU][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12677100	0.82[CEU][hapmap];0.94[JPT][hapmap];0.82[ASN][1000 genomes]
rs12678287	0.83[ASN][1000 genomes]
rs12680025	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13265863	0.96[CEU][hapmap];0.93[EUR][1000 genomes]
rs1354516	0.96[CEU][hapmap];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1394503	0.96[CEU][hapmap];0.93[EUR][1000 genomes]
rs1394505	0.96[CEU][hapmap];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1394506	0.93[EUR][1000 genomes]
rs1394507	0.93[EUR][1000 genomes]
rs1394509	0.96[CEU][hapmap]
rs1463916	0.96[CEU][hapmap];0.93[EUR][1000 genomes]
rs1463917	0.96[CEU][hapmap];0.93[EUR][1000 genomes]
rs1463918	0.96[CEU][hapmap];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1463919	0.96[CEU][hapmap];0.93[EUR][1000 genomes]
rs1604915	0.96[CEU][hapmap]
rs16905145	0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs17645841	0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1827667	0.83[ASN][1000 genomes]
rs1827668	0.96[CEU][hapmap];0.93[EUR][1000 genomes]
rs1965369	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1976495	0.96[CEU][hapmap];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2339228	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2339229	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2339230	0.96[CEU][hapmap];0.80[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34753356	0.80[ASN][1000 genomes]
rs34883198	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35547810	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs3907704	0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3913687	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4236824	0.81[CEU][hapmap];0.85[CHB][hapmap];0.94[JPT][hapmap];0.90[ASN][1000 genomes]
rs4236825	0.85[CEU][hapmap];0.85[CHB][hapmap];0.94[JPT][hapmap];0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4236826	0.86[CEU][hapmap];0.85[CHB][hapmap];0.94[JPT][hapmap];0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4236827	0.94[JPT][hapmap];0.82[ASN][1000 genomes]
rs4236828	0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4275197	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4301409	0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4323436	0.86[CEU][hapmap];0.85[CHB][hapmap];0.94[JPT][hapmap];0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4330649	0.86[CEU][hapmap];0.81[CHB][hapmap];0.89[JPT][hapmap];0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4330650	0.85[CEU][hapmap];0.85[CHB][hapmap];0.88[JPT][hapmap];0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4332092	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4335090	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4335091	0.86[CEU][hapmap];0.85[CHB][hapmap];0.89[JPT][hapmap];0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4338064	0.81[ASN][1000 genomes]
rs4368938	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4376466	0.85[CEU][hapmap];0.85[CHB][hapmap];0.94[JPT][hapmap];0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4377923	0.86[CEU][hapmap];0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4377924	0.85[CEU][hapmap];0.89[CHB][hapmap];0.88[JPT][hapmap];0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4442097	0.85[CEU][hapmap];0.85[CHB][hapmap];0.94[JPT][hapmap];0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4520126	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4531006	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4538831	0.85[CEU][hapmap];0.85[CHB][hapmap];0.88[JPT][hapmap];0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4606020	0.86[CEU][hapmap];0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4613959	0.92[EUR][1000 genomes]
rs4637779	0.86[CEU][hapmap];0.85[CHB][hapmap];0.94[JPT][hapmap];0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4642598	0.85[CHB][hapmap];0.89[JPT][hapmap];0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4734296	0.96[CEU][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4735295	0.94[JPT][hapmap]
rs4735306	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4735308	0.86[CEU][hapmap];0.85[CHB][hapmap];0.94[JPT][hapmap];0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs4735309	0.85[CEU][hapmap];0.85[CHB][hapmap];0.94[JPT][hapmap];0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4735341	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4735363	0.96[CEU][hapmap];0.93[EUR][1000 genomes]
rs4735367	0.93[EUR][1000 genomes]
rs4735368	0.96[CEU][hapmap];0.93[EUR][1000 genomes]
rs55796168	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs60187521	0.83[ASN][1000 genomes]
rs61540332	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6471243	0.85[CHB][hapmap];0.81[ASN][1000 genomes]
rs6471245	0.85[CEU][hapmap];0.85[CHB][hapmap];0.88[JPT][hapmap];0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs6471249	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6471251	0.96[CEU][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6471252	0.96[CEU][hapmap];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6983827	0.96[CEU][hapmap];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6985723	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs6993648	0.85[CEU][hapmap];0.85[CHB][hapmap];0.88[JPT][hapmap];0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs6994433	0.85[CEU][hapmap];0.85[CHB][hapmap];0.88[JPT][hapmap];0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs6997009	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6998736	0.96[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7002784	0.93[EUR][1000 genomes]
rs7003026	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7009348	0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7017260	0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7017405	0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7814682	0.96[CEU][hapmap]
rs7816709	0.96[CEU][hapmap]
rs7817599	0.96[CEU][hapmap]
rs7818125	0.86[CEU][hapmap];0.85[CHB][hapmap];0.89[JPT][hapmap];0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs7821994	0.87[ASN][1000 genomes]
rs7822742	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7829728	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7832679	0.85[CEU][hapmap];0.85[CHB][hapmap];0.88[JPT][hapmap];0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs7835610	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7839617	0.85[CEU][hapmap];0.85[CHB][hapmap];0.94[JPT][hapmap];0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7840113	0.86[CEU][hapmap];0.85[CHB][hapmap];0.94[JPT][hapmap];0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7840203	0.87[ASN][1000 genomes]
rs7843505	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7845074	0.96[CEU][hapmap];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs885497	0.86[CEU][hapmap];0.85[CHB][hapmap];0.89[JPT][hapmap];0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs9643313	0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028628	chr8:91680968-92418954	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv539672	chr8:91680968-92418954	Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	esv3326233	chr8:91690825-91708859	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:91692800-91706400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr8:91695000-91709600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr8:91698800-91721200	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr8:91702800-91705600	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr8:91703000-91705200	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr8:91703000-91705400	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr8:91703000-91705600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr8:91703200-91705200	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr8:91703400-91705400	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr8:91704200-91705800	Enhancers	NHLF	lung
11	chr8:91704400-91707400	Enhancers	Muscle Satellite Cultured Cells	--
12	chr8:91704400-91707400	Enhancers	NHDF-Ad	bronchial
13	chr8:91704400-91707800	Enhancers	HSMM	muscle
14	chr8:91704600-91705600	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr8:91704600-91705600	Enhancers	Pancreas	Pancrea
16	chr8:91704600-91705800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr8:91704600-91705800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr8:91704600-91705800	Enhancers	Colon Smooth Muscle	Colon
19	chr8:91704600-91705800	Enhancers	Hela-S3	cervix
20	chr8:91704600-91706600	Enhancers	Fetal Heart	heart
21	chr8:91704600-91707200	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr8:91704600-91707400	Enhancers	HSMMtube	muscle
23	chr8:91704600-91707600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr8:91704800-91705200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr8:91704800-91705400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr8:91704800-91705600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr8:91704800-91705600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr8:91704800-91705600	Enhancers	A549	lung
29	chr8:91704800-91705800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr8:91704800-91705800	Enhancers	NH-A	brain
31	chr8:91704800-91705800	Enhancers	Osteobl	bone
32	chr8:91705000-91705400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr8:91705000-91705800	Enhancers	Rectal Smooth Muscle	rectum
34	chr8:91705000-91705800	Enhancers	HUVEC	blood vessel

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