Variant report

Variant	rs2881473
Chromosome Location	chr4:159073402-159073403
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	chr4:159071408..159073828-chr4:159088522..159091495,2	MCF-7	breast:

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10005007	0.96[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10007737	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10016822	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10018872	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10024133	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10026876	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10517689	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11100150	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11100151	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11937022	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11938464	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12502811	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12511679	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1320370	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1320371	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2346319	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2346320	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2346381	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2346774	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2346776	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2346780	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2346783	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28499342	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28691778	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28719822	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4324593	0.93[EUR][1000 genomes]
rs4391084	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4472184	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4582199	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4627913	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4690893	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4691456	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4691457	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4691458	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4691459	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4691462	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4691463	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4691464	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4691465	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4691467	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6812635	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6813306	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6819576	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6821598	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6832099	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6834164	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6849902	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6852646	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6855420	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7671094	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7671501	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7671934	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7686997	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7695599	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8180159	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv993476	chr4:158550643-159202015	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv1030124	chr4:158758675-159251140	Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv1021067	chr4:158972282-159175475	Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv967692	chr4:159068843-159076875	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:159042800-159083600	Weak transcription	Fetal Muscle Leg	muscle
2	chr4:159047000-159080200	Weak transcription	Right Ventricle	heart
3	chr4:159051800-159080400	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr4:159052600-159080200	Weak transcription	Left Ventricle	heart
5	chr4:159055600-159076200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr4:159059000-159077800	Weak transcription	Aorta	Aorta
7	chr4:159059400-159076600	Weak transcription	Colon Smooth Muscle	Colon
8	chr4:159060600-159076600	Weak transcription	HMEC	breast
9	chr4:159062000-159077600	Weak transcription	Rectal Smooth Muscle	rectum
10	chr4:159062600-159077800	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr4:159062600-159083600	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr4:159063400-159078800	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr4:159066200-159076600	Weak transcription	Small Intestine	intestine
14	chr4:159066200-159076800	Strong transcription	Primary monocytes fromperipheralblood	blood
15	chr4:159066400-159080400	Weak transcription	Brain Hippocampus Middle	brain
16	chr4:159067400-159077200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr4:159068400-159078200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr4:159068600-159080400	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr4:159068600-159080400	Weak transcription	Brain Cingulate Gyrus	brain
20	chr4:159068600-159082000	Weak transcription	Brain Substantia Nigra	brain
21	chr4:159068800-159076200	Weak transcription	Fetal Muscle Trunk	muscle
22	chr4:159068800-159079400	Weak transcription	Brain Angular Gyrus	brain
23	chr4:159068800-159081000	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr4:159069400-159077000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr4:159070600-159079800	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr4:159070800-159074000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr4:159071200-159073600	Strong transcription	Ovary	ovary
28	chr4:159071400-159073800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr4:159071400-159080400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr4:159072000-159074200	Weak transcription	Primary hematopoietic stem cells	blood
31	chr4:159072000-159080000	Weak transcription	Stomach Smooth Muscle	stomach
32	chr4:159072000-159083800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr4:159072200-159076600	Weak transcription	HSMMtube	muscle
34	chr4:159072400-159077200	Weak transcription	Fetal Heart	heart
35	chr4:159072600-159076400	Weak transcription	HUVEC	blood vessel
36	chr4:159072800-159073600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr4:159072800-159076400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
38	chr4:159073200-159076000	Weak transcription	Adipose Nuclei	Adipose
39	chr4:159073400-159075400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr4:159073400-159076000	Weak transcription	HepG2	liver
41	chr4:159073400-159076200	Weak transcription	HSMM	muscle
42	chr4:159073400-159076400	Weak transcription	Fetal Intestine Small	intestine
43	chr4:159073400-159076600	Weak transcription	Fetal Intestine Large	intestine
44	chr4:159073400-159077200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr4:159073400-159077800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr4:159073400-159080000	Weak transcription	Fetal Stomach	stomach
47	chr4:159073400-159082600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr4:159073400-159083000	Weak transcription	Pancreas	Pancrea

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