Variant report

Variant	rs2675971
Chromosome Location	chr2:233726154-233726155
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:233723958..233726244-chr2:233739412..233742241,2	MCF-7	breast:
2	chr2:233725493..233728211-chr2:233788384..233791443,3	K562	blood:
3	chr2:233723605..233727098-chr2:233736700..233739372,3	MCF-7	breast:
4	chr2:233725993..233729161-chr2:233734807..233736601,3	K562	blood:

Variant related genes	Relation type
ENSG00000182600	Chromatin interaction

Extended variants
information (count: 119 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:112)

rs_ID	r²[population]
rs1022330	1.00[CEU][hapmap];0.80[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs1044480	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10933409	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10933411	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10933412	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11555646	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[EUR][1000 genomes]
rs11676216	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11679079	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[EUR][1000 genomes]
rs11687128	0.81[EUR][1000 genomes]
rs12474040	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs12478564	0.81[EUR][1000 genomes]
rs12694917	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12987513	0.82[EUR][1000 genomes]
rs12990821	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[EUR][1000 genomes]
rs13003675	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.80[EUR][1000 genomes]
rs13004406	1.00[CEU][hapmap];0.80[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.81[EUR][1000 genomes]
rs13008942	0.81[EUR][1000 genomes]
rs13011298	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.81[EUR][1000 genomes]
rs13013142	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[EUR][1000 genomes]
rs13021246	0.81[EUR][1000 genomes]
rs13035829	0.81[EUR][1000 genomes]
rs1446308	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1446310	0.87[ASN][1000 genomes]
rs1446311	1.00[CEU][hapmap];0.94[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1801251	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1867778	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1947105	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2012221	0.96[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap]
rs2044449	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2100053	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2197563	0.87[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap]
rs2250654	0.95[ASN][1000 genomes]
rs2250665	0.95[ASN][1000 genomes]
rs2305137	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2305141	0.88[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs2592102	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2592105	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2592113	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2592115	0.94[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs2592116	0.94[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs2592117	0.94[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs2592126	0.89[CHB][hapmap];0.95[JPT][hapmap];0.82[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs2674839	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2675957	0.94[ASN][1000 genomes]
rs2675966	0.94[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs2675967	0.94[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.95[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs2675973	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2675974	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs283466	0.87[ASN][1000 genomes]
rs283468	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs283469	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs283471	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs283474	1.00[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap];0.81[YRI][hapmap];0.84[ASN][1000 genomes]
rs283475	0.90[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs283476	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs283477	0.80[ASN][1000 genomes]
rs283484	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs283486	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs33980184	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs35085837	0.82[EUR][1000 genomes]
rs35212961	0.81[EUR][1000 genomes]
rs35362030	0.81[EUR][1000 genomes]
rs36007169	0.80[EUR][1000 genomes]
rs3816334	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3817311	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[EUR][1000 genomes]
rs4517962	0.81[EUR][1000 genomes]
rs4973053	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4973054	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4973055	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4973056	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4973560	0.85[ASN][1000 genomes]
rs4973561	0.87[ASN][1000 genomes]
rs56777991	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6437074	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs66549961	0.81[EUR][1000 genomes]
rs67013068	0.81[EUR][1000 genomes]
rs6704768	0.81[JPT][hapmap]
rs6714245	1.00[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap]
rs6717841	0.95[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap]
rs6719061	0.88[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs6724117	0.80[EUR][1000 genomes]
rs6732136	0.81[EUR][1000 genomes]
rs6733151	0.81[EUR][1000 genomes]
rs6738386	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs6745879	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[EUR][1000 genomes]
rs6746294	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs6747645	1.00[CEU][hapmap];0.85[JPT][hapmap]
rs6748027	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6761324	0.81[EUR][1000 genomes]
rs709933	0.89[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.96[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs709934	0.94[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.96[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs709938	0.92[ASN][1000 genomes]
rs71421663	0.81[EUR][1000 genomes]
rs737028	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7558609	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7562712	0.81[EUR][1000 genomes]
rs7568385	0.82[AFR][1000 genomes];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7573208	0.88[ASN][1000 genomes]
rs7587309	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7589201	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7591176	0.81[EUR][1000 genomes]
rs7606090	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes]
rs778166	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs778338	0.94[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.82[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs778339	0.93[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs778340	0.94[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs778368	0.95[ASN][1000 genomes]
rs809639	0.94[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs812383	0.94[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs895430	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9653383	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs991873	0.86[CEU][hapmap];0.89[CHB][hapmap];0.95[JPT][hapmap];0.95[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[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	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
6	nsv1009825	chr2:233709566-233763470	Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv984452	chr2:233725452-233762965	Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:233665800-233734200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:233667600-233726400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:233689200-233726400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr2:233701000-233729200	Strong transcription	Fetal Muscle Trunk	muscle
5	chr2:233703400-233726400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr2:233703400-233726600	Strong transcription	HUES64 Cell Line	embryonic stem cell
7	chr2:233704400-233726200	Strong transcription	Primary T helper cells fromperipheralblood	blood
8	chr2:233704400-233726600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr2:233704600-233728000	Strong transcription	Primary T cells from cord blood	blood
10	chr2:233704800-233726600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
11	chr2:233705000-233726600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr2:233705600-233726600	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chr2:233705600-233727800	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr2:233712000-233728200	Strong transcription	Fetal Stomach	stomach
15	chr2:233714000-233726400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr2:233718000-233726400	Strong transcription	Thymus	Thymus
17	chr2:233718000-233726600	Strong transcription	Adipose Nuclei	Adipose
18	chr2:233718200-233726400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr2:233718200-233726600	Strong transcription	Brain Germinal Matrix	brain
20	chr2:233718400-233726400	Strong transcription	Primary neutrophils fromperipheralblood	blood
21	chr2:233718600-233726400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr2:233718600-233727800	Strong transcription	Cortex derived primary cultured neurospheres	brain
23	chr2:233718600-233727800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr2:233718800-233726800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
25	chr2:233718800-233727800	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr2:233719200-233726600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr2:233719800-233726600	Strong transcription	Primary hematopoietic stem cells	blood
28	chr2:233719800-233726600	Strong transcription	Placenta	Placenta
29	chr2:233719800-233726600	Strong transcription	Lung	lung
30	chr2:233719800-233726800	Strong transcription	Stomach Smooth Muscle	stomach
31	chr2:233720000-233726600	Strong transcription	Rectal Smooth Muscle	rectum
32	chr2:233720000-233727000	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr2:233720200-233726200	Strong transcription	Fetal Brain Female	brain
34	chr2:233720200-233726400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr2:233720200-233726400	Strong transcription	Brain Hippocampus Middle	brain
36	chr2:233720800-233726600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr2:233720800-233727800	Strong transcription	Fetal Muscle Leg	muscle
38	chr2:233721200-233726600	Strong transcription	Left Ventricle	heart
39	chr2:233721200-233727800	Strong transcription	Brain Anterior Caudate	brain
40	chr2:233721400-233726600	Strong transcription	Brain Cingulate Gyrus	brain
41	chr2:233721400-233726600	Strong transcription	Fetal Lung	lung
42	chr2:233721400-233727800	Genic enhancers	Fetal Intestine Small	intestine
43	chr2:233721800-233726200	Strong transcription	Osteobl	bone
44	chr2:233722200-233726600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr2:233722400-233726400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr2:233722400-233726600	Strong transcription	Rectal Mucosa Donor 31	rectum
47	chr2:233722400-233727400	Weak transcription	Fetal Heart	heart
48	chr2:233722400-233728200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
49	chr2:233722400-233728400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
50	chr2:233722800-233738000	Weak transcription	Stomach Mucosa	stomach

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