Variant report

Variant	rs60673071
Chromosome Location	chr13:30729813-30729814
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	chr13:30727286..30729664-chr13:30729763..30731896,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KATNAL1-2	chr13:30727171-30733758	XLOC_010554

Variant related genes	Relation type
ENSG00000232643	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs472160	1.00[AMR][1000 genomes]
rs501877	1.00[AMR][1000 genomes]
rs501911	1.00[AMR][1000 genomes]
rs506517	1.00[AMR][1000 genomes]
rs509729	1.00[AMR][1000 genomes]
rs537597	1.00[AMR][1000 genomes]
rs56292131	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs564949	1.00[AMR][1000 genomes]
rs58662887	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs631673	1.00[AMR][1000 genomes]
rs658913	1.00[AMR][1000 genomes]
rs663161	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs683993	1.00[AMR][1000 genomes]
rs74043017	1.00[AMR][1000 genomes]
rs74043029	1.00[AMR][1000 genomes]
rs74043047	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040215	chr13:30621351-30741022	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv541745	chr13:30621351-30741022	Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv832572	chr13:30650005-30835256	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv981	chr13:30703159-30739838	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	esv1847946	chr13:30707385-30731192	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv561393	chr13:30726893-30748122	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30715000-30734000	Enhancers	Primary T cells fromperipheralblood	blood
2	chr13:30719800-30733800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
3	chr13:30726600-30731600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr13:30726600-30732800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr13:30727000-30730000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr13:30727000-30730200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr13:30727200-30730000	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr13:30727200-30730200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr13:30727200-30732000	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr13:30727600-30732200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr13:30727800-30734600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr13:30728200-30730200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr13:30728200-30730600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr13:30728600-30730000	Weak transcription	Primary B cells from peripheral blood	blood
15	chr13:30728600-30733000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr13:30728800-30731200	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr13:30728800-30732400	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr13:30729600-30731000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr13:30729600-30737400	Weak transcription	Spleen	Spleen
20	chr13:30729800-30731400	Enhancers	GM12878-XiMat	blood

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