Variant report

Variant	rs73211347
Chromosome Location	chr4:8438960-8438961
allele	A/C
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	chr4:8438879-8439634	HUVEC	blood vessel:	n/a	n/a
2	SP1	chr4:8438949-8439283	H1-hESC	embryonic stem cell:	n/a	n/a
3	TEAD4	chr4:8438939-8439278	H1-hESC	embryonic stem cell:	n/a	n/a
4	RAD21	chr4:8438877-8439265	H1-hESC	embryonic stem cell:	n/a	chr4:8439210-8439224
5	POLR2A	chr4:8438776-8439395	MCF10A-Er-Src	breast:	n/a	n/a
6	ZNF384	chr4:8438958-8439227	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:8429518..8431924-chr4:8437588..8440150,2	MCF-7	breast:

Variant related genes	Relation type
TRMT44	TF binding region
ENSG00000087008	Chromatin interaction

Extended variants
information (count: 121 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:113)

rs_ID	r²[population]
rs10003554	1.00[ASN][1000 genomes]
rs10516192	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11933361	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11938744	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12108233	0.89[EUR][1000 genomes]
rs12108264	0.89[EUR][1000 genomes]
rs12108299	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12498220	1.00[AMR][1000 genomes]
rs12498652	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12498856	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12499366	1.00[ASN][1000 genomes]
rs12499931	1.00[AMR][1000 genomes]
rs12500106	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12500186	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12500188	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12501889	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12503080	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12504157	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12504328	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12504709	1.00[ASN][1000 genomes]
rs12504813	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12506061	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12506272	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12506429	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12506703	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12509044	1.00[ASN][1000 genomes]
rs12509545	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12511417	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12511591	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12512006	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12512044	1.00[ASN][1000 genomes]
rs12513048	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12513296	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16842284	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16842305	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16842315	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16842316	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2386224	1.00[ASN][1000 genomes]
rs2386225	1.00[ASN][1000 genomes]
rs34873641	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41264711	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs55856487	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57229672	1.00[ASN][1000 genomes]
rs59670959	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59872851	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62286004	1.00[ASN][1000 genomes]
rs6447869	1.00[ASN][1000 genomes]
rs66675498	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66794792	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67332046	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67496006	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67901119	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6813671	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6814866	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6849528	1.00[ASN][1000 genomes]
rs73209462	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73209465	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73209470	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73209473	1.00[ASN][1000 genomes]
rs73209478	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73209480	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73209481	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73209482	1.00[AMR][1000 genomes]
rs73209488	1.00[ASN][1000 genomes]
rs73209489	1.00[ASN][1000 genomes]
rs73209502	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73211306	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73211309	1.00[ASN][1000 genomes]
rs73211315	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73211334	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73211338	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73211340	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73211351	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs73211354	0.89[EUR][1000 genomes]
rs73211357	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73211359	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73211365	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73211366	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73211368	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73211373	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73211375	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73211378	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73211381	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73211383	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73211388	1.00[EUR][1000 genomes]
rs73211394	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73211401	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73213403	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73213404	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73213405	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73213406	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73213408	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73213409	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73213410	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73213413	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73213414	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73213420	1.00[EUR][1000 genomes]
rs73213426	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73223242	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73223246	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73223250	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73223256	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73223257	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73223259	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73223263	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73223264	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73223266	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73223271	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73223275	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73223282	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73223294	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7686550	1.00[ASN][1000 genomes]
rs9761200	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002794	chr4:8110083-8490934	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv878601	chr4:8214767-8440951	Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv878602	chr4:8214767-8448992	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv878604	chr4:8315938-8618916	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
5	nsv1002680	chr4:8357163-8721214	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	nsv461220	chr4:8372944-8458394	Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	nsv593638	chr4:8372944-8458394	Flanking Active TSS Active TSS Genic enhancers Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv829854	chr4:8402921-8506407	Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:8430800-8439000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr4:8430800-8439000	Weak transcription	Brain Germinal Matrix	brain
3	chr4:8430800-8441200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr4:8430800-8441400	Weak transcription	Fetal Brain Female	brain
5	chr4:8430800-8441800	Weak transcription	Aorta	Aorta
6	chr4:8431000-8439000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr4:8431000-8439000	Weak transcription	Brain Cingulate Gyrus	brain
8	chr4:8431000-8439200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr4:8431000-8439200	Weak transcription	Brain Angular Gyrus	brain
10	chr4:8431000-8439200	Weak transcription	Fetal Brain Male	brain
11	chr4:8431000-8440600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr4:8431000-8441000	Weak transcription	A549	lung
13	chr4:8431000-8441200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr4:8431000-8441600	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr4:8433400-8439000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr4:8433800-8442000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr4:8435600-8441200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr4:8436400-8439000	Weak transcription	Lung	lung
19	chr4:8437200-8439000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr4:8437400-8439000	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr4:8437400-8439000	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr4:8437400-8439400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr4:8437600-8439400	Enhancers	Brain Hippocampus Middle	brain
24	chr4:8437800-8439000	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr4:8437800-8439000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr4:8437800-8439200	Weak transcription	Psoas Muscle	Psoas
27	chr4:8437800-8439600	Enhancers	Primary T cells fromperipheralblood	blood
28	chr4:8437800-8440200	Enhancers	Thymus	Thymus
29	chr4:8437800-8440600	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr4:8437800-8441000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr4:8437800-8441200	Enhancers	Liver	Liver
32	chr4:8437800-8441400	Weak transcription	HSMM	muscle
33	chr4:8438000-8439000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr4:8438000-8439000	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr4:8438000-8439000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr4:8438000-8439000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr4:8438000-8439000	Weak transcription	Brain Anterior Caudate	brain
38	chr4:8438000-8439000	Weak transcription	Brain Substantia Nigra	brain
39	chr4:8438000-8439000	Weak transcription	Fetal Muscle Leg	muscle
40	chr4:8438000-8439000	Weak transcription	Placenta	Placenta
41	chr4:8438000-8439000	Weak transcription	Fetal Stomach	stomach
42	chr4:8438000-8439000	Enhancers	Fetal Thymus	thymus
43	chr4:8438000-8439000	Weak transcription	Left Ventricle	heart
44	chr4:8438000-8439000	Weak transcription	Right Atrium	heart
45	chr4:8438000-8439000	Enhancers	HUVEC	blood vessel
46	chr4:8438000-8439000	Enhancers	NHEK	skin
47	chr4:8438000-8439000	Weak transcription	NHLF	lung
48	chr4:8438000-8439200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr4:8438000-8439200	Weak transcription	Fetal Muscle Trunk	muscle
50	chr4:8438000-8439200	Weak transcription	Sigmoid Colon	Sigmoid Colon

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