Variant report

Variant	rs4973561
Chromosome Location	chr2:233687337-233687338
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	chr2:233679964..233682809-chr2:233685559..233687469,2	MCF-7	breast:

Extended variants
information (count: 130 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:123)

rs_ID	r²[population]
rs1044480	0.91[ASN][1000 genomes]
rs10933409	0.88[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs10933411	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs10933412	0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11555646	0.86[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs11676216	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11679079	0.88[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs11687128	0.88[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs11692545	0.87[AFR][1000 genomes]
rs12474040	0.84[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs12478564	0.86[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs12694917	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12987513	0.91[ASN][1000 genomes]
rs12990821	0.88[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs12991088	0.85[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs13003675	0.86[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs13004406	0.86[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs13007783	0.81[ASN][1000 genomes]
rs13008942	0.86[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs13011298	0.86[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs13013142	0.86[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs13021246	0.87[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs13024793	0.84[AFR][1000 genomes]
rs13035829	0.90[ASN][1000 genomes]
rs1446308	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs1446310	0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1446311	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs1801251	0.88[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs1867778	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1947105	0.88[ASN][1000 genomes]
rs2012221	0.81[ASN][1000 genomes]
rs2044449	0.88[ASN][1000 genomes]
rs2100053	0.88[ASN][1000 genomes]
rs2250654	0.82[ASN][1000 genomes]
rs2250665	0.82[ASN][1000 genomes]
rs2305137	0.86[ASN][1000 genomes]
rs2305141	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2592102	0.87[ASN][1000 genomes]
rs2592105	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2592113	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2592115	0.85[ASN][1000 genomes]
rs2592116	0.85[ASN][1000 genomes]
rs2592117	0.85[ASN][1000 genomes]
rs2592126	0.82[ASN][1000 genomes]
rs2674839	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2675957	0.81[ASN][1000 genomes]
rs2675966	0.85[ASN][1000 genomes]
rs2675967	0.85[ASN][1000 genomes]
rs2675971	0.87[ASN][1000 genomes]
rs2675973	0.85[ASN][1000 genomes]
rs2675974	0.85[ASN][1000 genomes]
rs283466	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs283468	0.98[ASN][1000 genomes]
rs283469	0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs283471	0.91[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs283474	0.97[ASN][1000 genomes]
rs283475	0.97[ASN][1000 genomes]
rs283476	0.95[ASN][1000 genomes]
rs283477	0.93[ASN][1000 genomes]
rs283479	0.85[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs283480	0.85[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs283481	0.85[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs283484	0.86[AFR][1000 genomes];0.80[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs283485	0.91[ASN][1000 genomes]
rs283486	0.88[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs33980184	0.88[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs34880628	0.85[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs35085837	0.88[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs35212961	0.89[ASN][1000 genomes]
rs35285732	0.86[ASN][1000 genomes]
rs35362030	0.86[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs35395584	0.87[AFR][1000 genomes]
rs35621474	0.85[AFR][1000 genomes]
rs36007169	0.88[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs3816334	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs3817311	0.88[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs4452130	0.83[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs4458205	0.85[AFR][1000 genomes]
rs4973053	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4973054	0.86[ASN][1000 genomes]
rs4973055	0.86[ASN][1000 genomes]
rs4973056	0.85[ASN][1000 genomes]
rs4973559	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4973560	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56777991	0.91[ASN][1000 genomes]
rs6437074	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs66549961	0.84[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs67013068	0.91[ASN][1000 genomes]
rs6714245	0.81[ASN][1000 genomes]
rs6717841	0.86[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs6719061	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6724117	0.88[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs6732136	0.87[ASN][1000 genomes]
rs6733151	0.85[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs6738386	0.89[ASN][1000 genomes]
rs6739638	0.86[AFR][1000 genomes]
rs6745879	0.86[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs6746294	0.89[ASN][1000 genomes]
rs6748027	0.91[ASN][1000 genomes]
rs6761324	0.88[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs709933	0.85[ASN][1000 genomes]
rs709934	0.85[ASN][1000 genomes]
rs71421663	0.88[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs737028	0.86[AFR][1000 genomes];0.80[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs7558609	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs7562712	0.86[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs7573208	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7578299	0.85[AFR][1000 genomes]
rs7587309	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7589201	0.87[ASN][1000 genomes]
rs7591176	0.88[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs7606090	0.90[ASN][1000 genomes]
rs778166	0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs778338	0.85[ASN][1000 genomes]
rs778339	0.84[ASN][1000 genomes]
rs778340	0.85[ASN][1000 genomes]
rs778368	0.83[ASN][1000 genomes]
rs809639	0.85[ASN][1000 genomes]
rs812383	0.85[ASN][1000 genomes]
rs895430	0.87[ASN][1000 genomes]
rs9653383	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs983430	0.82[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs991873	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948470	chr2:233166262-233886732	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	nsv1005123	chr2:233227729-233920152	Enhancers Strong transcription Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active 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 miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv536173	chr2:233227729-233920152	Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
4	nsv834570	chr2:233639160-233805067	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv460134	chr2:233639909-233714686	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
6	nsv584696	chr2:233639909-233714686	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
7	nsv584697	chr2:233684097-233733352	Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:233655600-233689200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:233660800-233688600	Weak transcription	Psoas Muscle	Psoas
3	chr2:233665000-233692600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr2:233665800-233734200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr2:233667600-233726400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:233667800-233693400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr2:233669000-233701800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr2:233669200-233690400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
9	chr2:233669400-233690400	Strong transcription	Dnd41	blood
10	chr2:233669400-233703600	Strong transcription	Liver	Liver
11	chr2:233669600-233690400	Strong transcription	Placenta	Placenta
12	chr2:233669600-233690800	Strong transcription	Primary T helper cells fromperipheralblood	blood
13	chr2:233669800-233692000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr2:233670000-233690800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr2:233670000-233701600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
16	chr2:233670200-233688800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr2:233670200-233692200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr2:233670200-233699600	Strong transcription	Rectal Mucosa Donor 29	rectum
19	chr2:233670200-233702600	Strong transcription	HepG2	liver
20	chr2:233670600-233692600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr2:233670800-233690400	Strong transcription	HUES6 Cell Line	embryonic stem cell
22	chr2:233670800-233700200	Strong transcription	Duodenum Mucosa	Duodenum
23	chr2:233671000-233692000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr2:233671000-233700400	Strong transcription	Fetal Intestine Large	intestine
25	chr2:233671200-233690800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr2:233678200-233698200	Weak transcription	Stomach Mucosa	stomach
27	chr2:233679400-233693400	Strong transcription	HSMM	muscle
28	chr2:233679600-233692200	Strong transcription	Primary T helper cells PMA-I stimulated	--
29	chr2:233680600-233688200	Weak transcription	Aorta	Aorta
30	chr2:233680600-233688400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr2:233680600-233688600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr2:233680600-233698600	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr2:233681600-233702400	Strong transcription	Monocytes-CD14+_RO01746	blood
34	chr2:233681800-233694800	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr2:233681800-233695400	Weak transcription	Esophagus	oesophagus
36	chr2:233681800-233695600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
37	chr2:233681800-233695600	Weak transcription	Right Ventricle	heart
38	chr2:233681800-233695800	Weak transcription	Gastric	stomach
39	chr2:233681800-233702200	Strong transcription	Primary monocytes fromperipheralblood	blood
40	chr2:233682000-233688000	Weak transcription	NHLF	lung
41	chr2:233682000-233688400	Weak transcription	Colonic Mucosa	Colon
42	chr2:233682000-233695400	Weak transcription	Small Intestine	intestine
43	chr2:233682400-233689400	Weak transcription	K562	blood
44	chr2:233682600-233687800	Weak transcription	Fetal Kidney	kidney
45	chr2:233682600-233688800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr2:233682800-233688200	Weak transcription	Brain Angular Gyrus	brain
47	chr2:233682800-233688200	Weak transcription	Brain Substantia Nigra	brain
48	chr2:233682800-233688200	Weak transcription	Fetal Muscle Leg	muscle
49	chr2:233682800-233688800	Weak transcription	Rectal Smooth Muscle	rectum
50	chr2:233682800-233690400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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