Variant report

Variant	rs4080957
Chromosome Location	chr3:178962517-178962518
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYC	chr3:178962353-178962530	MCF-7	breast:	n/a	n/a
2	POLR2A	chr3:178962462-178962712	HepG2	liver:	n/a	n/a
3	FOXA1	chr3:178962474-178962738	T-47D	breast:	n/a	n/a
4	POLR2A	chr3:178962267-178966388	K562	blood:	n/a	n/a
5	FOXA1	chr3:178962447-178962745	T-47D	breast:	n/a	n/a
6	POLR2A	chr3:178962450-178962751	K562	blood:	n/a	n/a
7	POLR2A	chr3:178962448-178962743	GM12891	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:178961495..178963231-chr3:178964563..178967338,2	K562	blood:
2	chr3:178961023..178967533-chr3:178968774..178973213,9	K562	blood:
3	chr3:178961566..178964034-chr3:178975468..178977653,2	MCF-7	breast:
4	chr3:178918266..178919818-chr3:178962428..178965232,2	MCF-7	breast:
5	chr3:178961430..178967225-chr3:178967360..178970302,5	K562	blood:

No data

Variant related genes	Relation type
KCNMB3	TF binding region
ENSG00000171121	Chromatin interaction

Extended variants
information (count: 128 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:118)

rs_ID	r²[population]
rs1059691	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10936992	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10936994	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11706842	0.90[ASN][1000 genomes]
rs11708869	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1183319	0.81[ASN][1000 genomes]
rs11918324	0.88[ASN][1000 genomes]
rs11918587	0.90[ASN][1000 genomes]
rs11919383	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11922631	1.00[ASN][1000 genomes]
rs11924545	0.81[ASN][1000 genomes]
rs11924547	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11924600	0.81[ASN][1000 genomes]
rs11925655	0.90[ASN][1000 genomes]
rs12488074	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1568205	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17849071	0.88[ASN][1000 genomes]
rs1850504	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1970901	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1976765	0.90[ASN][1000 genomes]
rs2865082	0.88[ASN][1000 genomes]
rs3729674	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3729676	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3729682	0.88[ASN][1000 genomes]
rs3729694	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3960984	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3975510	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3975513	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3976507	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4855093	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4855095	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs55685804	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs55933053	0.90[ASN][1000 genomes]
rs55961756	0.88[ASN][1000 genomes]
rs56095736	1.00[ASN][1000 genomes]
rs56143971	0.88[ASN][1000 genomes]
rs56372555	0.90[ASN][1000 genomes]
rs56378415	0.86[ASN][1000 genomes]
rs59340081	0.90[ASN][1000 genomes]
rs59408989	0.95[ASN][1000 genomes]
rs59922883	0.90[ASN][1000 genomes]
rs61796482	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61796483	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62408837	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6443619	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6443624	1.00[ASN][1000 genomes]
rs6443625	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6443626	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6443627	0.90[ASN][1000 genomes]
rs6443628	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6443629	0.98[ASN][1000 genomes]
rs67562832	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs67609137	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6765953	0.88[ASN][1000 genomes]
rs6767284	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6769154	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6769162	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6769508	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6770267	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6771313	1.00[ASN][1000 genomes]
rs6774158	0.88[ASN][1000 genomes]
rs6777203	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6782557	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6786114	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6791153	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs67920954	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6792189	0.90[ASN][1000 genomes]
rs6794252	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6797304	0.90[ASN][1000 genomes]
rs6798817	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6799756	0.90[ASN][1000 genomes]
rs6803076	0.85[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs6803219	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6806555	0.90[ASN][1000 genomes]
rs6806917	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6810246	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73051974	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73187264	0.88[ASN][1000 genomes]
rs73187276	0.88[ASN][1000 genomes]
rs7372645	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7612533	0.90[ASN][1000 genomes]
rs7614305	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7614418	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7615076	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7621329	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7621436	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7623154	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7624090	0.88[ASN][1000 genomes]
rs7627273	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7628855	0.90[ASN][1000 genomes]
rs7635669	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7636454	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7638323	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7638649	0.90[ASN][1000 genomes]
rs7641889	0.90[ASN][1000 genomes]
rs7641983	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7644648	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7646409	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7648857	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7650809	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7651265	0.90[ASN][1000 genomes]
rs938752	0.90[ASN][1000 genomes]
rs9631497	0.86[ASN][1000 genomes]
rs9813190	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9819762	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9829903	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9831234	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9833438	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9838411	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9839519	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9841051	0.98[ASN][1000 genomes]
rs9844270	1.00[ASN][1000 genomes]
rs9844482	1.00[ASN][1000 genomes]
rs9850621	0.90[ASN][1000 genomes]
rs9862294	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9866361	0.88[AFR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9877812	0.90[ASN][1000 genomes]
rs9881887	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv998253	chr3:178622707-179196274	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	nsv536814	chr3:178622707-179196274	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	esv3354111	chr3:178833305-179156908	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats 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	46 gene(s)	inside rSNPs	diseases
4	nsv878038	chr3:178924867-178962897	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv878039	chr3:178933363-178968568	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
6	nsv1002962	chr3:178943753-179224548	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
7	nsv536815	chr3:178943753-179224548	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
8	nsv1003021	chr3:178944806-179246179	Enhancers Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
9	nsv1006584	chr3:178944822-179241429	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
10	nsv829806	chr3:178952363-179154373	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:178912400-178978600	Weak transcription	Right Ventricle	heart
2	chr3:178913800-178969000	Weak transcription	Small Intestine	intestine
3	chr3:178914800-178972800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr3:178915800-178965200	Weak transcription	Hela-S3	cervix
5	chr3:178920200-178968400	Weak transcription	Spleen	Spleen
6	chr3:178925800-178968200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr3:178925800-178968600	Weak transcription	Pancreas	Pancrea
8	chr3:178929800-178962800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr3:178932200-178974000	Weak transcription	Lung	lung
10	chr3:178941800-178972600	Weak transcription	Brain Hippocampus Middle	brain
11	chr3:178942800-178965400	Weak transcription	Stomach Smooth Muscle	stomach
12	chr3:178945800-178978400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr3:178948200-178967400	Weak transcription	NHDF-Ad	bronchial
14	chr3:178948400-178967600	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr3:178948800-178966600	Weak transcription	Psoas Muscle	Psoas
16	chr3:178948800-178978600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr3:178949000-178962600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr3:178949000-178962800	Weak transcription	Left Ventricle	heart
19	chr3:178949000-178964400	Weak transcription	Brain Angular Gyrus	brain
20	chr3:178949000-178966200	Weak transcription	Aorta	Aorta
21	chr3:178949000-178968200	Weak transcription	Fetal Stomach	stomach
22	chr3:178949000-178970800	Weak transcription	Rectal Smooth Muscle	rectum
23	chr3:178949000-178978200	Weak transcription	NHLF	lung
24	chr3:178949000-178978600	Weak transcription	Brain Cingulate Gyrus	brain
25	chr3:178949000-178978600	Weak transcription	Ovary	ovary
26	chr3:178949000-178978800	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr3:178949200-178964600	Weak transcription	Fetal Muscle Leg	muscle
28	chr3:178949200-178967400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr3:178949200-178967600	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr3:178949200-178968600	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr3:178949200-178968600	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr3:178949200-178978400	Weak transcription	Brain Anterior Caudate	brain
33	chr3:178949200-178978600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr3:178949200-178978600	Weak transcription	Osteobl	bone
35	chr3:178949800-178964200	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr3:178949800-178969000	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr3:178952000-178968200	Weak transcription	Fetal Brain Female	brain
38	chr3:178952000-178978400	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr3:178952200-178967400	Weak transcription	Liver	Liver
40	chr3:178952200-178968400	Weak transcription	Fetal Lung	lung
41	chr3:178952200-178970400	Weak transcription	Duodenum Mucosa	Duodenum
42	chr3:178952200-178973000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr3:178952400-178967400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr3:178952400-178967800	Weak transcription	Primary B cells from peripheral blood	blood
45	chr3:178952400-178967800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr3:178952400-178971200	Weak transcription	Fetal Muscle Trunk	muscle
47	chr3:178952400-178971400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
48	chr3:178952400-178978600	Weak transcription	Primary neutrophils fromperipheralblood	blood
49	chr3:178952600-178967400	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr3:178952600-178967600	Weak transcription	Fetal Kidney	kidney

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