Variant report

Variant	rs6679498
Chromosome Location	chr1:211712690-211712691
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:211710767..211712862-chr1:211741822..211743757,2	MCF-7	breast:
2	chr1:211712198..211717179-chr1:211748278..211753995,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000170385	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11119763	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11119769	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];0.96[TSI][hapmap];0.83[YRI][hapmap];0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1144469	0.90[YRI][hapmap]
rs12075221	0.86[ASN][1000 genomes]
rs12077710	0.80[ASN][1000 genomes]
rs12405155	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1415249	0.86[YRI][hapmap]
rs17017716	0.86[YRI][hapmap]
rs1977876	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4951531	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4951768	0.93[CEU][hapmap];0.90[MEX][hapmap];0.85[TSI][hapmap];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs60707186	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6662221	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7527002	0.86[YRI][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832514	chr1:211630247-211794963	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:211689400-211715000	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr1:211705200-211714600	Weak transcription	Right Atrium	heart
3	chr1:211705600-211714800	Weak transcription	Brain Anterior Caudate	brain
4	chr1:211705600-211714800	Weak transcription	Right Ventricle	heart
5	chr1:211708200-211714600	Weak transcription	Pancreas	Pancrea
6	chr1:211710200-211714600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr1:211710600-211713000	Enhancers	Fetal Muscle Trunk	muscle
8	chr1:211711000-211712800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr1:211711000-211713000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr1:211711400-211713000	Enhancers	Fetal Muscle Leg	muscle
11	chr1:211711600-211712800	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr1:211711600-211713000	Enhancers	H1 Cell Line	embryonic stem cell
13	chr1:211711800-211714600	Weak transcription	Esophagus	oesophagus
14	chr1:211711800-211716000	Weak transcription	Spleen	Spleen
15	chr1:211712000-211714600	Weak transcription	Left Ventricle	heart
16	chr1:211712200-211712800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr1:211712200-211713000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr1:211712400-211712800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr1:211712400-211712800	Enhancers	H9 Cell Line	embryonic stem cell
20	chr1:211712400-211712800	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr1:211712600-211714800	Weak transcription	Stomach Mucosa	stomach
22	chr1:211712600-211715400	Weak transcription	Fetal Heart	heart

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