Variant report

Variant	rs7724243
Chromosome Location	chr5:180006106-180006107
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr5:180006097-180006441	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:179987248..179989879-chr5:180004376..180006674,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000263759	TF binding region

Extended variants
information (count: 89 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs10464103	0.88[EUR][1000 genomes]
rs10516143	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10516144	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10516145	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10903256	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10903257	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10903261	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1105972	0.88[EUR][1000 genomes]
rs11249716	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11249717	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11249719	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11249720	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11249722	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11249723	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11249725	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11249726	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11249728	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11249729	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11249731	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11249732	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11738044	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11738129	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11738199	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11740950	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11742093	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11743298	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11748611	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11748880	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11750412	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11750506	0.83[AFR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11949971	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11956294	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12054820	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12187407	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12188182	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13152935	0.90[ASN][1000 genomes]
rs13154251	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13155576	0.83[EUR][1000 genomes]
rs13164926	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13165676	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13166941	0.84[EUR][1000 genomes]
rs13168301	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13168976	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13169807	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13174261	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13181218	0.88[EUR][1000 genomes]
rs13185177	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13185444	0.88[EUR][1000 genomes]
rs13190607	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1478360	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1994912	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2131811	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2387283	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2387284	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2387287	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2387288	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs34294053	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4002641	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs57665202	0.93[ASN][1000 genomes]
rs62405523	0.89[EUR][1000 genomes]
rs62405524	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62405545	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6601127	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6601129	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs67607816	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6859296	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6864038	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6874985	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6879011	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6888064	0.89[EUR][1000 genomes]
rs6888805	0.88[ASN][1000 genomes]
rs6894846	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6897365	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7704287	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7705358	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7705421	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7705521	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7722020	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7726226	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7727679	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023914	chr5:179649883-180040672	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv537983	chr5:179649883-180040672	Strong transcription ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv1030697	chr5:179710469-180686563	ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	184 gene(s)	inside rSNPs	diseases
4	nsv1026417	chr5:179721376-180291360	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
5	nsv1031836	chr5:179742033-180676122	Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	177 gene(s)	inside rSNPs	diseases
6	nsv537984	chr5:179742033-180676122	Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	177 gene(s)	inside rSNPs	diseases
7	nsv949199	chr5:179743553-180696889	Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	182 gene(s)	inside rSNPs	diseases
8	nsv830564	chr5:179867394-180010096	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
9	esv2762572	chr5:179996987-180183359	Bivalent Enhancer Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Active 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	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:179970800-180006600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr5:179976200-180007200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr5:179991000-180006400	Strong transcription	Primary neutrophils fromperipheralblood	blood
4	chr5:179991600-180006400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
5	chr5:179993200-180007600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr5:179993400-180007200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr5:179993400-180008000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr5:179994200-180013800	Weak transcription	NHEK	skin
9	chr5:179995200-180009200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr5:180000800-180006800	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr5:180001200-180008600	Weak transcription	Right Ventricle	heart
12	chr5:180001200-180012400	Weak transcription	Fetal Intestine Small	intestine
13	chr5:180001200-180012400	Weak transcription	Lung	lung
14	chr5:180001400-180006200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr5:180001400-180006200	Weak transcription	HSMMtube	muscle
16	chr5:180001400-180007000	Weak transcription	Aorta	Aorta
17	chr5:180001400-180007400	Weak transcription	Brain Anterior Caudate	brain
18	chr5:180001400-180007600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr5:180001400-180008000	Weak transcription	NHLF	lung
20	chr5:180001400-180008400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr5:180001400-180008600	Weak transcription	Thymus	Thymus
22	chr5:180001400-180009600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr5:180001400-180010000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr5:180001400-180010400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr5:180001600-180006600	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr5:180001600-180007800	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr5:180001600-180010800	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr5:180001800-180006400	Weak transcription	Brain Hippocampus Middle	brain
29	chr5:180001800-180006800	Weak transcription	Brain Substantia Nigra	brain
30	chr5:180001800-180007800	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr5:180002000-180006800	Weak transcription	Colon Smooth Muscle	Colon
32	chr5:180002600-180009200	Weak transcription	Fetal Brain Female	brain
33	chr5:180002800-180008400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr5:180003400-180007000	Weak transcription	Left Ventricle	heart
35	chr5:180003400-180007400	Weak transcription	Adipose Nuclei	Adipose
36	chr5:180003400-180008800	Weak transcription	Fetal Stomach	stomach
37	chr5:180003600-180007400	Weak transcription	Stomach Smooth Muscle	stomach
38	chr5:180003600-180008400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr5:180003600-180015600	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr5:180003800-180007400	Weak transcription	NHDF-Ad	bronchial
41	chr5:180003800-180007800	Weak transcription	Hela-S3	cervix
42	chr5:180003800-180008400	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr5:180003800-180009800	Weak transcription	HUVEC	blood vessel
44	chr5:180003800-180010000	Weak transcription	Osteobl	bone
45	chr5:180003800-180012200	Weak transcription	Primary T cells from cord blood	blood
46	chr5:180003800-180015000	Weak transcription	K562	blood
47	chr5:180004000-180008800	Weak transcription	Primary T cells fromperipheralblood	blood
48	chr5:180004400-180007000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr5:180004600-180006400	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr5:180004600-180006800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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