Variant report

Variant	rs41295831
Chromosome Location	chr1:146767490-146767491
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:146763180..146767980-chr1:146768468..146771849,4	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:90)

rs_ID	r²[population]
rs10736837	0.84[AFR][1000 genomes]
rs10751403	0.88[EUR][1000 genomes]
rs10751404	0.94[EUR][1000 genomes]
rs10751414	1.00[EUR][1000 genomes]
rs10793657	0.81[AFR][1000 genomes]
rs10793658	0.87[AFR][1000 genomes]
rs10793659	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10793660	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10793661	0.87[AFR][1000 genomes]
rs10793662	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10793666	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10900323	0.88[EUR][1000 genomes]
rs10900331	0.94[EUR][1000 genomes]
rs10900332	0.85[AFR][1000 genomes]
rs10900333	0.87[AFR][1000 genomes]
rs10900334	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10900335	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10900336	0.84[AFR][1000 genomes]
rs11239937	0.88[EUR][1000 genomes]
rs11239952	0.94[EUR][1000 genomes]
rs11239971	0.84[AFR][1000 genomes]
rs1372819	0.85[EUR][1000 genomes]
rs1442759	0.88[EUR][1000 genomes]
rs1561879	0.88[EUR][1000 genomes]
rs1561880	0.88[EUR][1000 genomes]
rs1822311	0.94[EUR][1000 genomes]
rs1822312	0.94[EUR][1000 genomes]
rs1890036	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1890037	1.00[EUR][1000 genomes]
rs1899484	0.88[EUR][1000 genomes]
rs1932981	0.84[AFR][1000 genomes]
rs1932982	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2120004	0.94[EUR][1000 genomes]
rs2120005	0.94[EUR][1000 genomes]
rs2210954	0.82[AFR][1000 genomes]
rs3737849	0.87[AFR][1000 genomes]
rs3737850	0.87[AFR][1000 genomes]
rs3737853	0.87[AFR][1000 genomes]
rs3737854	0.87[AFR][1000 genomes]
rs4245679	1.00[EUR][1000 genomes]
rs4264042	0.84[AFR][1000 genomes]
rs4284292	0.84[AFR][1000 genomes]
rs4326679	0.84[AFR][1000 genomes]
rs4384284	0.91[AFR][1000 genomes]
rs4385773	0.84[AFR][1000 genomes]
rs4518968	0.84[AFR][1000 genomes]
rs4950386	0.88[EUR][1000 genomes]
rs4950394	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4950407	1.00[EUR][1000 genomes]
rs6537	0.87[AFR][1000 genomes]
rs6593746	0.81[EUR][1000 genomes]
rs6593753	1.00[EUR][1000 genomes]
rs6593754	0.94[EUR][1000 genomes]
rs6593756	0.87[AFR][1000 genomes]
rs6593758	0.84[AFR][1000 genomes]
rs6593760	0.84[AFR][1000 genomes]
rs6593762	0.84[AFR][1000 genomes]
rs6593763	0.84[AFR][1000 genomes]
rs6593764	0.84[AFR][1000 genomes]
rs6593767	0.84[AFR][1000 genomes]
rs6593768	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6659630	0.87[AFR][1000 genomes]
rs6660985	0.84[AFR][1000 genomes]
rs6665597	0.87[AFR][1000 genomes]
rs6667498	1.00[EUR][1000 genomes]
rs6674987	0.84[AFR][1000 genomes]
rs6677762	0.84[AFR][1000 genomes]
rs6681716	0.94[EUR][1000 genomes]
rs6682309	1.00[EUR][1000 genomes]
rs6683215	0.88[EUR][1000 genomes]
rs6692355	0.84[AFR][1000 genomes]
rs6692455	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6697022	0.87[AFR][1000 genomes]
rs72999607	1.00[EUR][1000 genomes]
rs7517150	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7517324	0.87[AFR][1000 genomes]
rs7519022	0.84[AFR][1000 genomes]
rs7523954	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7526996	0.87[AFR][1000 genomes]
rs7528700	0.84[AFR][1000 genomes]
rs7531878	0.94[EUR][1000 genomes]
rs7534963	0.86[AFR][1000 genomes]
rs7535052	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7544598	0.84[AFR][1000 genomes]
rs7547279	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7552601	0.94[EUR][1000 genomes]
rs7555817	0.87[AFR][1000 genomes]
rs7555913	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs894472	0.94[EUR][1000 genomes]
rs894473	0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:29 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv872251	chr1:146152553-146803630	Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
2	nsv872252	chr1:146471863-147398135	Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	112 gene(s)	inside rSNPs	diseases
3	nsv999546	chr1:146507577-147356574	Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	110 gene(s)	inside rSNPs	diseases
4	nsv535123	chr1:146507577-147356574	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	110 gene(s)	inside rSNPs	diseases
5	nsv492188	chr1:146507649-147381479	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	110 gene(s)	inside rSNPs	diseases
6	nsv916754	chr1:146507711-147417736	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	113 gene(s)	inside rSNPs	diseases
7	nsv547673	chr1:146510112-147398135	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
8	nsv547674	chr1:146522722-147396797	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer 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 miRNA target site	111 gene(s)	inside rSNPs	diseases
9	nsv998341	chr1:146531446-147384720	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	110 gene(s)	inside rSNPs	diseases
10	nsv535124	chr1:146531446-147384720	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	110 gene(s)	inside rSNPs	diseases
11	nsv1003493	chr1:146531446-147389944	Weak transcription Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	110 gene(s)	inside rSNPs	diseases
12	nsv998209	chr1:146543722-147384720	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	110 gene(s)	inside rSNPs	diseases
13	nsv535126	chr1:146543722-147384720	Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	110 gene(s)	inside rSNPs	diseases
14	nsv872255	chr1:146550780-146969712	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
15	nsv872256	chr1:146556596-147410973	Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
16	nsv1012331	chr1:146603479-147384720	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
17	nsv535131	chr1:146603479-147384720	Genic enhancers Strong transcription Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
18	nsv1009943	chr1:146618929-146893851	Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
19	nsv535132	chr1:146618929-146893851	Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
20	nsv437047	chr1:146643555-146841602	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
21	nsv1005809	chr1:146647822-146886419	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
22	nsv535134	chr1:146647822-146886419	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
23	nsv1004849	chr1:146661516-147286826	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
24	nsv535135	chr1:146661516-147286826	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
25	nsv547676	chr1:146686228-146996047	Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
26	esv2761654	chr1:146750270-146809156	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
27	nsv872260	chr1:146767353-146826675	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
28	nsv872261	chr1:146767353-146842342	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
29	nsv872262	chr1:146767353-146901677	Weak transcription Active TSS Strong transcription ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:146722800-146769800	Strong transcription	Dnd41	blood
2	chr1:146724200-146769800	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr1:146726600-146769600	Strong transcription	Primary T helper cells PMA-I stimulated	--
4	chr1:146727000-146770000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr1:146727200-146767800	Strong transcription	HUES64 Cell Line	embryonic stem cell
6	chr1:146727200-146770200	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr1:146727400-146767800	Strong transcription	HUES6 Cell Line	embryonic stem cell
8	chr1:146727400-146767800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
9	chr1:146728200-146770800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr1:146729400-146769800	Strong transcription	Primary T cells from cord blood	blood
11	chr1:146733000-146770600	Strong transcription	HepG2	liver
12	chr1:146735600-146768600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
13	chr1:146735800-146769000	Strong transcription	Fetal Thymus	thymus
14	chr1:146736400-146770200	Strong transcription	Rectal Mucosa Donor 29	rectum
15	chr1:146742400-146767800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr1:146745200-146769400	Strong transcription	Fetal Muscle Trunk	muscle
17	chr1:146745600-146768200	Strong transcription	K562	blood
18	chr1:146746000-146769400	Strong transcription	Hela-S3	cervix
19	chr1:146746200-146770000	Strong transcription	Primary B cells from peripheral blood	blood
20	chr1:146746200-146770000	Strong transcription	Brain Anterior Caudate	brain
21	chr1:146746400-146769400	Strong transcription	Primary T cells fromperipheralblood	blood
22	chr1:146746400-146770000	Strong transcription	Stomach Smooth Muscle	stomach
23	chr1:146746600-146769800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr1:146746600-146770000	Strong transcription	Primary T helper cells fromperipheralblood	blood
25	chr1:146746800-146769600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr1:146746800-146770000	Strong transcription	Duodenum Mucosa	Duodenum
27	chr1:146746800-146770000	Strong transcription	Duodenum Smooth Muscle	Duodenum
28	chr1:146747000-146770000	Strong transcription	Skeletal Muscle Female	skeletal muscle
29	chr1:146747600-146769000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
30	chr1:146749600-146769000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr1:146754800-146769600	Strong transcription	Left Ventricle	heart
32	chr1:146755200-146768400	Strong transcription	Fetal Muscle Leg	muscle
33	chr1:146755200-146769000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr1:146755200-146769600	Strong transcription	Brain Inferior Temporal Lobe	brain
35	chr1:146755400-146769400	Strong transcription	H1 Cell Line	embryonic stem cell
36	chr1:146755400-146770800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr1:146755600-146768800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr1:146755600-146769000	Strong transcription	Fetal Intestine Large	intestine
39	chr1:146755600-146769600	Strong transcription	GM12878-XiMat	blood
40	chr1:146755600-146770000	Strong transcription	Skeletal Muscle Male	skeletal muscle
41	chr1:146755800-146768400	Strong transcription	H9 Cell Line	embryonic stem cell
42	chr1:146755800-146769000	Strong transcription	Brain Hippocampus Middle	brain
43	chr1:146755800-146770000	Strong transcription	Adipose Nuclei	Adipose
44	chr1:146755800-146770000	Strong transcription	Brain Substantia Nigra	brain
45	chr1:146755800-146770000	Strong transcription	Ovary	ovary
46	chr1:146756200-146769800	Strong transcription	Brain Angular Gyrus	brain
47	chr1:146756400-146769800	Strong transcription	Brain Cingulate Gyrus	brain
48	chr1:146756400-146770400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr1:146756800-146768400	Strong transcription	Sigmoid Colon	Sigmoid Colon
50	chr1:146758400-146767800	Weak transcription	Pancreatic Islets	Pancreatic Islet

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