Variant report

Variant	rs72830984
Chromosome Location	chr2:111506481-111506482
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:111498603..111500959-chr2:111504381..111506706,2	MCF-7	breast:

Extended variants
information (count: 113 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:108)

rs_ID	r²[population]
rs13388313	0.85[ASN][1000 genomes]
rs13421709	1.00[ASN][1000 genomes]
rs17041539	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17041553	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17041554	0.82[EUR][1000 genomes]
rs17041555	0.82[EUR][1000 genomes]
rs17041561	0.82[EUR][1000 genomes]
rs17464100	0.82[ASN][1000 genomes]
rs28452164	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34026418	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3817265	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4255970	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55682108	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55780486	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs55849112	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55857945	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55875504	1.00[EUR][1000 genomes]
rs55875530	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55927063	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56010803	0.82[EUR][1000 genomes]
rs56031628	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56062220	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56110941	1.00[EUR][1000 genomes]
rs56146538	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56165253	1.00[EUR][1000 genomes]
rs56169320	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56177778	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56181028	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56202720	1.00[ASN][1000 genomes]
rs56238325	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56260092	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56272335	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56281800	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56289191	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56320021	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs57101781	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs57318054	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs57847126	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs57862073	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs58054304	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58569659	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs58588523	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs59258102	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs59413237	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs59716611	0.83[AFR][1000 genomes]
rs60185821	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs60357733	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61124407	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61376946	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61637608	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs66616139	1.00[EUR][1000 genomes]
rs72828836	0.82[EUR][1000 genomes]
rs72828838	0.82[EUR][1000 genomes]
rs72828843	1.00[EUR][1000 genomes]
rs72828844	1.00[EUR][1000 genomes]
rs72828845	1.00[EUR][1000 genomes]
rs72828846	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72828849	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72828850	0.86[ASN][1000 genomes]
rs72828851	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72828852	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72828854	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72828856	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72828857	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72828859	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72828861	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72830976	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72830979	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72830980	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72830982	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72830985	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72830986	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72830989	1.00[EUR][1000 genomes]
rs72830990	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72830993	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72830995	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72830996	0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs72830997	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72831000	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72832803	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72832804	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72832809	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72832810	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72832812	0.85[ASN][1000 genomes]
rs72832813	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72832815	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72832816	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72832817	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72832818	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72832820	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72832821	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72832822	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72832824	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72832826	0.82[EUR][1000 genomes]
rs72832828	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72832837	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72832838	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72832839	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72832840	0.82[ASN][1000 genomes]
rs72832841	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72832842	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72832843	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72832846	0.82[EUR][1000 genomes]
rs73956429	0.85[AFR][1000 genomes]
rs73956435	0.83[AFR][1000 genomes]
rs7592058	0.85[ASN][1000 genomes]
rs977406	0.82[EUR][1000 genomes]
rs981196	0.82[EUR][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	nsv874838	chr2:111376870-112046226	Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv874839	chr2:111400934-111868010	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv1008758	chr2:111415136-111626467	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv535890	chr2:111415136-111626467	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv997829	chr2:111486961-111780537	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:111501800-111510400	Weak transcription	Right Atrium	heart
2	chr2:111502000-111506600	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr2:111502600-111506600	Enhancers	H1 Cell Line	embryonic stem cell
4	chr2:111503200-111506800	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr2:111503400-111506800	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr2:111504000-111506600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr2:111504000-111507600	Enhancers	Fetal Thymus	thymus
8	chr2:111504600-111506600	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr2:111504600-111506800	Enhancers	Primary hematopoietic stem cells	blood
10	chr2:111504800-111506600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
11	chr2:111504800-111506800	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr2:111505000-111506600	Enhancers	H9 Cell Line	embryonic stem cell
13	chr2:111505000-111506800	Enhancers	Primary T helper cells PMA-I stimulated	--
14	chr2:111505000-111506800	Enhancers	Primary T helper cells fromperipheralblood	blood
15	chr2:111505400-111506600	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr2:111505400-111506600	Enhancers	Primary T helper naive cells from peripheral blood	blood
17	chr2:111505600-111506600	Bivalent Enhancer	HSMM	muscle
18	chr2:111505800-111506600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
19	chr2:111505800-111506600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr2:111505800-111506600	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
21	chr2:111505800-111506600	Enhancers	Brain Germinal Matrix	brain
22	chr2:111505800-111506600	Enhancers	Thymus	Thymus
23	chr2:111505800-111506600	Enhancers	Spleen	Spleen
24	chr2:111505800-111506600	Enhancers	HMEC	breast
25	chr2:111505800-111506800	Active TSS	Pancreatic Islets	Pancreatic Islet
26	chr2:111505800-111506800	Flanking Active TSS	GM12878-XiMat	blood
27	chr2:111506000-111506600	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr2:111506000-111506600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
29	chr2:111506000-111506600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr2:111506000-111506600	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
31	chr2:111506000-111506600	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
32	chr2:111506000-111506800	Enhancers	Primary B cells from peripheral blood	blood
33	chr2:111506200-111506600	Bivalent Enhancer	NHEK	skin
34	chr2:111506200-111507400	Bivalent Enhancer	K562	blood
35	chr2:111506400-111506600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
36	chr2:111506400-111506600	Enhancers	Primary T killer memory cells from peripheral blood	blood
37	chr2:111506400-111506600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr2:111506400-111506600	Bivalent Enhancer	Fetal Intestine Large	intestine
39	chr2:111506400-111506800	Enhancers	Primary T cells from cord blood	blood
40	chr2:111506400-111506800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
41	chr2:111506400-111506800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
42	chr2:111506400-111507600	Flanking Active TSS	Dnd41	blood
43	chr2:111506400-111510200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr2:111506400-111510200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr2:111506400-111510400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr2:111506400-111510400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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