Variant report

Variant	rs427027
Chromosome Location	chr6:118609426-118609427
allele	A/C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs12212582	0.82[YRI][hapmap]
rs17079862	0.91[CEU][hapmap];0.83[EUR][1000 genomes]
rs176014	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1874082	0.85[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs190756	0.89[CHB][hapmap];0.95[YRI][hapmap]
rs1923282	1.00[CEU][hapmap];0.87[CHB][hapmap]
rs281861	0.82[JPT][hapmap]
rs281866	0.95[CEU][hapmap];0.89[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs281867	0.82[JPT][hapmap]
rs281868	0.93[JPT][hapmap];0.82[ASN][1000 genomes]
rs281869	0.95[CEU][hapmap];0.89[CHB][hapmap];0.83[JPT][hapmap];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs281872	1.00[CEU][hapmap];0.89[CHB][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs283042	0.82[YRI][hapmap]
rs283046	0.82[YRI][hapmap]
rs283067	0.88[EUR][1000 genomes]
rs283077	0.94[JPT][hapmap];0.81[ASN][1000 genomes]
rs283080	0.86[ASN][1000 genomes]
rs283081	0.93[JPT][hapmap];0.86[ASN][1000 genomes]
rs283082	0.93[JPT][hapmap];0.87[ASN][1000 genomes]
rs283083	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs283084	0.94[JPT][hapmap];0.86[ASN][1000 genomes]
rs283085	0.94[JPT][hapmap];0.86[ASN][1000 genomes]
rs283086	0.94[JPT][hapmap];0.84[ASN][1000 genomes]
rs283087	0.84[ASN][1000 genomes]
rs283088	0.94[JPT][hapmap];0.83[ASN][1000 genomes]
rs283091	0.93[JPT][hapmap];0.83[ASN][1000 genomes]
rs2883849	0.95[CEU][hapmap];0.89[CHB][hapmap];0.84[EUR][1000 genomes]
rs372237	0.93[JPT][hapmap];0.87[ASN][1000 genomes]
rs387266	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs413876	0.95[CEU][hapmap];0.94[CHB][hapmap];0.91[YRI][hapmap];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs422833	0.94[JPT][hapmap];0.87[ASN][1000 genomes]
rs447193	0.94[JPT][hapmap];0.86[ASN][1000 genomes]
rs450093	0.91[CEU][hapmap];0.94[CHB][hapmap];0.91[YRI][hapmap];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4945618	0.91[CEU][hapmap];0.84[CHB][hapmap];0.84[EUR][1000 genomes]
rs4946333	0.93[JPT][hapmap];0.82[ASN][1000 genomes]
rs6912208	0.94[JPT][hapmap];0.82[ASN][1000 genomes]
rs7762823	0.84[CHB][hapmap]
rs89107	0.94[JPT][hapmap];0.82[ASN][1000 genomes]
rs9320646	0.95[CEU][hapmap];0.89[CHB][hapmap];0.84[JPT][hapmap];0.91[YRI][hapmap];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9385038	0.95[CEU][hapmap];0.89[CHB][hapmap];0.84[JPT][hapmap];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9401060	0.93[JPT][hapmap];0.81[ASN][1000 genomes]
rs9489326	0.84[CHB][hapmap]

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	nsv530526	chr6:118027339-118718476	Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
2	nsv532051	chr6:118551027-119044197	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv1020463	chr6:118593028-119146363	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:118603400-118610000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr6:118606200-118609800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr6:118606600-118613400	Weak transcription	Rectal Smooth Muscle	rectum
4	chr6:118607200-118609800	Weak transcription	NHLF	lung
5	chr6:118607600-118614000	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr6:118607600-118616000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr6:118607600-118617000	Weak transcription	Fetal Muscle Leg	muscle
8	chr6:118608200-118613400	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr6:118608400-118610200	Enhancers	Left Ventricle	heart
10	chr6:118608400-118613400	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr6:118608400-118613400	Weak transcription	Stomach Smooth Muscle	stomach
12	chr6:118608600-118610400	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr6:118608600-118612800	Weak transcription	Colon Smooth Muscle	Colon
14	chr6:118608800-118610000	Enhancers	Aorta	Aorta
15	chr6:118608800-118610200	Enhancers	H9 Cell Line	embryonic stem cell
16	chr6:118608800-118610400	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr6:118609000-118609800	Enhancers	Fetal Heart	heart
18	chr6:118609000-118616400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr6:118609200-118610000	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr6:118609400-118610000	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr6:118609400-118610000	Enhancers	H1 Cell Line	embryonic stem cell
22	chr6:118609400-118610000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr6:118609400-118610600	Enhancers	HUVEC	blood vessel
24	chr6:118609400-118612600	Weak transcription	Cortex derived primary cultured neurospheres	brain

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