Variant report

Variant	rs6948021
Chromosome Location	chr7:103849444-103849445
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:103846735-103849911	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr7:103849160-103849511	SK-N-SH	brain:	n/a	n/a
3	HCFC1	chr7:103847216-103849458	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr7:103847584-103849511	GM18951	blood:	n/a	n/a
5	POLR2A	chr7:103846546-103849823	MCF10A-Er-Src	breast:	n/a	n/a
6	POLR2A	chr7:103847260-103849449	K562	blood:	n/a	n/a
7	POLR2A	chr7:103847130-103850285	GM12878	blood:	n/a	n/a
8	POLR2A	chr7:103846910-103850210	GM12891	blood:	n/a	n/a
9	POLR2A	chr7:103846892-103850163	K562	blood:	n/a	n/a
10	MXI1	chr7:103846895-103849833	SK-N-SH	brain:	n/a	n/a
11	POLR2A	chr7:103847387-103849995	GM12878	blood:	n/a	n/a
12	POLR2A	chr7:103848179-103849620	HCT-116	colon:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:103628555..103630772-chr7:103847007..103849982,2	K562	blood:
2	chr7:103848404..103850130-chr7:104653038..104655393,2	MCF-7	breast:

Variant related genes	Relation type
ORC5	TF binding region
ENSG00000228393	Chromatin interaction
ENSG00000005483	Chromatin interaction
ENSG00000239569	Chromatin interaction
ENSG00000189056	Chromatin interaction

Extended variants
information (count: 80 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs10155973	0.94[AFR][1000 genomes]
rs1019312	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10234499	1.00[EUR][1000 genomes]
rs10235130	1.00[EUR][1000 genomes]
rs10235201	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10241191	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10242752	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10249033	0.90[AMR][1000 genomes]
rs10250235	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10251308	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10251561	1.00[EUR][1000 genomes]
rs10251976	0.84[AFR][1000 genomes]
rs10255806	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10256764	1.00[EUR][1000 genomes]
rs10258773	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10260238	0.87[AFR][1000 genomes]
rs10262560	1.00[EUR][1000 genomes]
rs10262796	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10262996	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10263828	1.00[EUR][1000 genomes]
rs10266337	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10267412	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10267940	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10268209	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10270562	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10271923	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10275484	1.00[EUR][1000 genomes]
rs10275705	0.94[AFR][1000 genomes]
rs10276243	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10278320	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10279736	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10281709	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10282300	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10487184	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10487192	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11489610	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11972422	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11979390	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11979993	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11980018	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12112576	1.00[EUR][1000 genomes]
rs16873387	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17158586	1.00[EUR][1000 genomes]
rs17159290	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17159774	1.00[EUR][1000 genomes]
rs2307409	1.00[EUR][1000 genomes]
rs2385134	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28481813	1.00[EUR][1000 genomes]
rs28577267	0.83[AMR][1000 genomes]
rs28644319	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28645598	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28686914	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28702500	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28773535	1.00[EUR][1000 genomes]
rs28820003	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58842751	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59750244	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6949887	0.87[AFR][1000 genomes]
rs6954109	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6962621	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6967711	1.00[EUR][1000 genomes]
rs6975642	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73413894	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73415704	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73415717	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73415730	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73415786	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73415801	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73417705	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73417718	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7777446	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7777906	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7810496	1.00[EUR][1000 genomes]
rs9655777	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9656090	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1019640	chr7:103813522-103884705	Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
2	nsv1026481	chr7:103813522-103890770	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
3	esv2762692	chr7:103813522-103890782	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
4	nsv526062	chr7:103817597-103891085	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
5	nsv608065	chr7:103817597-103990755	Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:103847600-103850000	Active TSS	Psoas Muscle	Psoas
2	chr7:103848000-103849600	Active TSS	Rectal Mucosa Donor 29	rectum
3	chr7:103849000-103849600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
4	chr7:103849000-103849600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
5	chr7:103849000-103850200	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr7:103849000-103850200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr7:103849200-103849600	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr7:103849200-103849600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
9	chr7:103849200-103849600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
10	chr7:103849200-103849600	Enhancers	Stomach Mucosa	stomach
11	chr7:103849200-103850800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr7:103849400-103849600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr7:103849400-103849600	Enhancers	Fetal Kidney	kidney
14	chr7:103849400-103849600	Enhancers	HepG2	liver

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