Variant report

Variant	rs73071004
Chromosome Location	chr1:195818192-195818193
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:195815546..195818437-chr1:195820213..195822021,2	K562	blood:
2	chr1:195817026..195821248-chr1:195822021..195827460,5	K562	blood:

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs12061613	1.00[EUR][1000 genomes]
rs16838961	1.00[EUR][1000 genomes]
rs56742030	1.00[EUR][1000 genomes]
rs57057259	1.00[EUR][1000 genomes]
rs58467507	1.00[EUR][1000 genomes]
rs59718710	1.00[EUR][1000 genomes]
rs6658165	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6676482	1.00[EUR][1000 genomes]
rs6690674	1.00[EUR][1000 genomes]
rs73056343	1.00[EUR][1000 genomes]
rs73056346	1.00[EUR][1000 genomes]
rs73056348	1.00[EUR][1000 genomes]
rs73056357	1.00[EUR][1000 genomes]
rs73060547	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73060549	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73060550	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73060553	1.00[EUR][1000 genomes]
rs73060560	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73060569	1.00[EUR][1000 genomes]
rs73060572	1.00[EUR][1000 genomes]
rs73065150	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73071007	1.00[EUR][1000 genomes]
rs73071048	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73071050	1.00[EUR][1000 genomes]
rs73071052	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73071054	1.00[EUR][1000 genomes]
rs73071058	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv872937	chr1:195493538-195849028	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
2	nsv1007203	chr1:195672857-195902360	Enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
3	nsv872941	chr1:195770204-195820337	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
4	nsv1014402	chr1:195792089-195877256	Enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases
5	esv1815602	chr1:195796224-195830040	Enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases
6	esv2762212	chr1:195797081-195820890	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases
7	esv2757765	chr1:195803764-196119454	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	esv2758989	chr1:195803764-196119454	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv470768	chr1:195804144-195872295	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases
10	nsv872942	chr1:195811203-195844389	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases
11	nsv872943	chr1:195811203-195849028	Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:195814800-195818400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
2	chr1:195817000-195818200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr1:195817400-195818400	Enhancers	H1 Cell Line	embryonic stem cell
4	chr1:195817400-195821200	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr1:195817600-195818200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr1:195817600-195818200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
7	chr1:195817600-195818200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
8	chr1:195817600-195818400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
9	chr1:195817800-195818200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr1:195817800-195818400	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
11	chr1:195818000-195818200	Enhancers	H9 Cell Line	embryonic stem cell
12	chr1:195818000-195820800	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr1:195818000-195821200	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr1:195818000-195825400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr1:195818000-195826000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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