Variant report

Variant	rs74111213
Chromosome Location	chr1:113691797-113691798
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:113686049..113694370-chr1:113929775..113935752,18	MCF-7	breast:
2	chr1:113687424..113692442-chr1:113930468..113933577,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000081026	Chromatin interaction

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs11102584	1.00[ASN][1000 genomes]
rs11102586	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11102588	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11102592	1.00[ASN][1000 genomes]
rs12117273	0.86[EUR][1000 genomes]
rs12118532	0.86[EUR][1000 genomes]
rs12120738	0.86[EUR][1000 genomes]
rs12123072	0.86[EUR][1000 genomes]
rs12123519	0.86[EUR][1000 genomes]
rs12123601	0.86[EUR][1000 genomes]
rs12128658	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12133057	0.86[EUR][1000 genomes]
rs12136941	1.00[ASN][1000 genomes]
rs12137299	0.86[EUR][1000 genomes]
rs12141415	0.86[EUR][1000 genomes]
rs12143171	0.86[EUR][1000 genomes]
rs12143341	0.86[EUR][1000 genomes]
rs1216767	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1216769	1.00[ASN][1000 genomes]
rs1216793	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1216798	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1216802	1.00[ASN][1000 genomes]
rs1216805	1.00[ASN][1000 genomes]
rs1216807	1.00[ASN][1000 genomes]
rs1216808	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1216810	1.00[ASN][1000 genomes]
rs1216812	1.00[ASN][1000 genomes]
rs1216813	1.00[ASN][1000 genomes]
rs12184272	0.86[EUR][1000 genomes]
rs12184320	0.86[EUR][1000 genomes]
rs12744661	0.86[EUR][1000 genomes]
rs1310142	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1618794	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17031006	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1728227	1.00[ASN][1000 genomes]
rs1728229	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1766864	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1778016	1.00[ASN][1000 genomes]
rs1778017	1.00[ASN][1000 genomes]
rs1778019	1.00[ASN][1000 genomes]
rs1778023	0.83[ASN][1000 genomes]
rs41296184	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4839291	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4839292	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6670587	0.90[ASN][1000 genomes]
rs6695183	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs74111210	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74114115	0.83[AFR][1000 genomes]
rs7531847	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7538813	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs946215	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002971	chr1:112924725-113740584	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
2	nsv535059	chr1:112924725-113740584	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
3	nsv1010276	chr1:113123932-113740584	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	158 gene(s)	inside rSNPs	diseases
4	nsv1012119	chr1:113214869-113759081	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
5	nsv535060	chr1:113214869-113759081	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
6	nsv529238	chr1:113229946-113759080	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
7	esv18293	chr1:113375437-113852815	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
8	nsv1007045	chr1:113425222-113839910	Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
9	nsv427719	chr1:113570229-114078388	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:113684400-113692800	Weak transcription	GM12878-XiMat	blood
2	chr1:113686200-113695600	Weak transcription	Stomach Mucosa	stomach
3	chr1:113688200-113692200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr1:113689800-113691800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr1:113690000-113695600	Weak transcription	Duodenum Mucosa	Duodenum
6	chr1:113690800-113694200	Weak transcription	HepG2	liver
7	chr1:113691000-113695600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr1:113691000-113695600	Weak transcription	Fetal Intestine Large	intestine
9	chr1:113691000-113695600	Weak transcription	Fetal Intestine Small	intestine
10	chr1:113691600-113691800	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr1:113691600-113691800	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr1:113691600-113691800	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr1:113691600-113691800	Enhancers	iPS-20b Cell Line	embryonic stem cell

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