Variant report

Variant	rs6690191
Chromosome Location	chr1:172430597-172430598
allele	C/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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:172424018..172425586-chr1:172428604..172431117,2	MCF-7	breast:
2	chr1:172422534..172424842-chr1:172429005..172432418,3	K562	blood:
3	chr1:172429679..172431187-chr1:172444301..172447240,2	MCF-7	breast:
4	chr1:172430415..172432096-chr1:172445397..172448022,2	MCF-7	breast:
5	chr1:172419668..172422031-chr1:172429212..172431739,2	K562	blood:
6	chr1:172425636..172427358-chr1:172429662..172431249,2	MCF-7	breast:
7	chr1:172427216..172431593-chr1:172433461..172437861,5	MCF-7	breast:
8	chr1:172430075..172431867-chr1:172436310..172438011,2	MCF-7	breast:
9	chr1:172428539..172433124-chr1:172502239..172505220,5	MCF-7	breast:
10	chr1:172420106..172422090-chr1:172429588..172431547,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000180999	Chromatin interaction
ENSG00000094975	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs13932	0.82[EUR][1000 genomes]
rs1894634	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2097500	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2157450	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2213740	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2269613	0.86[EUR][1000 genomes]
rs2269614	0.86[EUR][1000 genomes]
rs2285171	0.86[EUR][1000 genomes]
rs2285172	0.86[EUR][1000 genomes]
rs2285173	0.86[EUR][1000 genomes]
rs2285174	0.86[EUR][1000 genomes]
rs2285175	0.86[EUR][1000 genomes]
rs2901656	1.00[ASN][1000 genomes]
rs3937046	0.83[EUR][1000 genomes]
rs60302909	0.83[EUR][1000 genomes]
rs60821093	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6669286	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6673869	0.86[EUR][1000 genomes]
rs6674073	0.86[EUR][1000 genomes]
rs6680035	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6689377	0.86[EUR][1000 genomes]
rs6691993	1.00[ASN][1000 genomes]
rs6699095	1.00[ASN][1000 genomes]
rs73048551	0.82[AFR][1000 genomes]
rs7550016	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9286858	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs929098	0.86[EUR][1000 genomes]
rs9425329	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9425334	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9425619	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9425629	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:172422600-172435400	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr1:172423400-172434600	Weak transcription	HSMMtube	muscle
3	chr1:172423600-172432000	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr1:172425800-172435400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr1:172426000-172436000	Weak transcription	Fetal Intestine Large	intestine
6	chr1:172426400-172434600	Weak transcription	Fetal Muscle Leg	muscle
7	chr1:172429000-172430600	Enhancers	NHEK	skin
8	chr1:172429400-172430600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr1:172429400-172430800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr1:172429400-172431000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr1:172429400-172431400	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr1:172429400-172431400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr1:172429600-172430600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr1:172429600-172431200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr1:172429600-172431400	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr1:172429800-172430600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr1:172429800-172431600	Enhancers	A549	lung
18	chr1:172430000-172430600	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr1:172430000-172430800	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr1:172430200-172435400	Weak transcription	HepG2	liver
21	chr1:172430400-172431600	Enhancers	Pancreatic Islets	Pancreatic Islet
22	chr1:172430400-172435200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr1:172430400-172435400	Weak transcription	HMEC	breast

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