Variant report

Variant	rs1819741
Chromosome Location	chr1:192784838-192784839
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:192776654..192780262-chr1:192782251..192786802,5	K562	blood:
2	chr1:192783714..192785248-chr1:192795090..192796972,2	K562	blood:
3	chr1:192780407..192783864-chr1:192784307..192789259,8	K562	blood:
4	chr1:192784259..192787215-chr1:192787504..192790743,5	K562	blood:
5	chr1:192777989..192779691-chr1:192783906..192786659,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000116741	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10737618	0.88[ASN][1000 genomes]
rs10754031	0.88[ASN][1000 genomes]
rs10801151	0.91[CEU][hapmap];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10801152	0.92[EUR][1000 genomes]
rs10801153	0.91[CEU][hapmap];0.91[CHB][hapmap];0.85[GIH][hapmap];0.91[JPT][hapmap];0.95[MEX][hapmap];0.97[TSI][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10801154	0.91[CEU][hapmap];0.91[CHB][hapmap];0.86[CHD][hapmap];0.88[GIH][hapmap];0.91[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10801156	0.99[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs10801157	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10801158	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10921265	0.88[ASN][1000 genomes]
rs10921267	0.90[CEU][hapmap];0.89[CHB][hapmap];0.84[JPT][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10921268	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11586572	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12565835	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1418718	0.91[CEU][hapmap];0.82[CHD][hapmap];0.94[GIH][hapmap];0.97[TSI][hapmap];0.92[EUR][1000 genomes]
rs16834851	0.95[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.94[GIH][hapmap];0.91[JPT][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];0.95[TSI][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2746071	0.91[CEU][hapmap];0.82[CHD][hapmap];1.00[GIH][hapmap];0.97[TSI][hapmap];0.93[EUR][1000 genomes]
rs2746072	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2746073	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3856223	0.86[ASN][1000 genomes]
rs6428136	0.91[CEU][hapmap];0.91[CHB][hapmap];0.85[CHD][hapmap];0.88[GIH][hapmap];0.91[JPT][hapmap];0.94[MEX][hapmap];0.97[TSI][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6669632	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6670801	0.80[ASN][1000 genomes]
rs6670806	0.80[ASN][1000 genomes]
rs6684156	0.92[EUR][1000 genomes]
rs7525778	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7546861	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7549721	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532618	chr1:192537006-193149179	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	nsv548660	chr1:192609268-192945348	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:192779400-192790800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr1:192779600-192793200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr1:192779800-192786400	Weak transcription	Small Intestine	intestine
4	chr1:192780800-192786000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr1:192781000-192795000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr1:192781200-192791200	Weak transcription	Fetal Brain Male	brain
7	chr1:192781400-192785200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr1:192781400-192785600	Weak transcription	HUVEC	blood vessel
9	chr1:192781400-192786400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr1:192781400-192803400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr1:192781600-192785600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr1:192781800-192785800	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr1:192781800-192795200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr1:192782000-192785400	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr1:192782000-192785600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr1:192782000-192785800	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr1:192782000-192785800	Weak transcription	Fetal Lung	lung
18	chr1:192782000-192786200	Weak transcription	Rectal Smooth Muscle	rectum
19	chr1:192782000-192794400	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr1:192783200-192785800	Weak transcription	Colon Smooth Muscle	Colon
21	chr1:192784600-192790800	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr1:192784800-192786200	Weak transcription	Primary monocytes fromperipheralblood	blood
23	chr1:192784800-192786200	Enhancers	Primary neutrophils fromperipheralblood	blood

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