Variant report

Variant	rs72827724
Chromosome Location	chr2:99390691-99390692
allele	C/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	chr2:99390677-99390837	ProgFib	skin:	n/a	n/a
2	POLR2A	chr2:99390391-99391343	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:99384290..99389208-chr2:99389339..99394045,5	MCF-7	breast:
2	chr2:99389818..99391649-chr2:99395102..99396877,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000226791	TF binding region
ENSG00000226791	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10496330	0.93[EUR][1000 genomes]
rs13000014	0.83[ASN][1000 genomes]
rs17021941	0.89[ASN][1000 genomes]
rs1877905	0.93[EUR][1000 genomes]
rs2871243	1.00[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs3731660	0.84[ASN][1000 genomes]
rs58560917	1.00[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs59313126	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs59989465	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs60496162	1.00[AMR][1000 genomes]
rs61042973	1.00[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs61311613	1.00[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs61359279	1.00[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs72811003	1.00[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs72811004	0.82[ASN][1000 genomes]
rs72811005	1.00[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs72825780	0.93[EUR][1000 genomes]
rs72825782	0.93[EUR][1000 genomes]
rs72825784	0.93[EUR][1000 genomes]
rs72825789	0.93[EUR][1000 genomes]
rs72825790	0.93[EUR][1000 genomes]
rs72825800	0.93[EUR][1000 genomes]
rs72825801	0.93[EUR][1000 genomes]
rs72827704	0.93[EUR][1000 genomes]
rs72827705	0.93[EUR][1000 genomes]
rs72827707	0.93[EUR][1000 genomes]
rs72827708	0.93[EUR][1000 genomes]
rs72827713	0.93[EUR][1000 genomes]
rs72827717	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72827722	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72827727	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72827729	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72827731	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72827732	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72827733	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72827734	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72827739	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72827741	1.00[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs72827743	1.00[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs7561818	0.83[ASN][1000 genomes]
rs7573844	0.83[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	nsv1011278	chr2:99280928-99638376	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv535835	chr2:99280928-99638376	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:99385800-99394000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr2:99385800-99410400	Weak transcription	Right Atrium	heart
3	chr2:99386200-99391600	Weak transcription	Fetal Brain Female	brain
4	chr2:99386600-99391000	Weak transcription	Fetal Brain Male	brain
5	chr2:99386800-99391400	Weak transcription	Esophagus	oesophagus
6	chr2:99387600-99392000	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr2:99388000-99391400	Weak transcription	Pancreas	Pancrea
8	chr2:99388600-99392200	Weak transcription	Lung	lung
9	chr2:99389000-99391800	Weak transcription	HepG2	liver
10	chr2:99389000-99392400	Enhancers	Primary T helper cells fromperipheralblood	blood
11	chr2:99389000-99393000	Enhancers	Fetal Thymus	thymus
12	chr2:99389000-99393800	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr2:99389200-99391200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr2:99389200-99391600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
15	chr2:99389200-99392000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
16	chr2:99389200-99392000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
17	chr2:99389200-99392400	Enhancers	Primary T cells fromperipheralblood	blood
18	chr2:99389200-99392600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr2:99389400-99391600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr2:99389400-99391600	Enhancers	Primary T cells from cord blood	blood
21	chr2:99389400-99391600	Weak transcription	HMEC	breast
22	chr2:99389400-99391800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
23	chr2:99389400-99391800	Enhancers	Primary T helper cells PMA-I stimulated	--
24	chr2:99389400-99392600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
25	chr2:99389400-99392800	Enhancers	Primary T helper naive cells from peripheral blood	blood
26	chr2:99389600-99391400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr2:99389600-99392000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr2:99389600-99392200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr2:99389800-99391200	Enhancers	H1 Cell Line	embryonic stem cell
30	chr2:99390000-99392200	Enhancers	Primary T killer memory cells from peripheral blood	blood
31	chr2:99390200-99390800	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr2:99390200-99391000	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr2:99390200-99391000	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr2:99390200-99391000	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr2:99390400-99390800	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
36	chr2:99390400-99391000	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr2:99390400-99391000	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr2:99390400-99391400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr2:99390600-99390800	Enhancers	Thymus	Thymus
40	chr2:99390600-99392000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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