Variant report

Variant	rs73223256
Chromosome Location	chr4:8481618-8481619
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr4:8478899-8482832	K562	blood:	n/a	n/a
2	TBL1XR1	chr4:8480751-8481729	K562	blood:	n/a	n/a
3	POLR2A	chr4:8480078-8481680	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr4:8473752..8477708-chr4:8479447..8482230,3	K562	blood:
2	chr4:8474636..8476895-chr4:8480359..8482946,2	K562	blood:
3	chr4:8479557..8483754-chr4:8505033..8507334,3	K562	blood:
4	chr4:8480343..8482118-chr4:8533933..8535799,2	MCF-7	breast:
5	chr4:8481028..8483192-chr4:8493835..8495709,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000205959	TF binding region
ENSG00000155275	Chromatin interaction

Extended variants
information (count: 117 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:112)

rs_ID	r²[population]
rs10003554	1.00[ASN][1000 genomes]
rs10516192	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11933361	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11938744	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12108299	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12498652	1.00[ASN][1000 genomes]
rs12498856	1.00[ASN][1000 genomes]
rs12499366	1.00[ASN][1000 genomes]
rs12500106	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12500186	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12500188	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12501889	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12503080	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12504157	1.00[ASN][1000 genomes]
rs12504328	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12504709	1.00[ASN][1000 genomes]
rs12504813	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12506061	1.00[ASN][1000 genomes]
rs12506272	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12506429	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12506703	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12509044	1.00[ASN][1000 genomes]
rs12509545	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12511417	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12511591	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12512006	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12512044	1.00[ASN][1000 genomes]
rs12513048	1.00[ASN][1000 genomes]
rs12513296	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16842284	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16842305	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16842315	1.00[ASN][1000 genomes]
rs16842316	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16842337	0.93[AFR][1000 genomes]
rs16842423	0.86[AFR][1000 genomes]
rs2386224	1.00[ASN][1000 genomes]
rs2386225	1.00[ASN][1000 genomes]
rs34873641	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41264711	1.00[ASN][1000 genomes]
rs55856487	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57229672	1.00[ASN][1000 genomes]
rs59670959	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59872851	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62286004	1.00[ASN][1000 genomes]
rs6447869	1.00[ASN][1000 genomes]
rs66675498	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66794792	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67332046	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67496006	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67901119	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6813671	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6814866	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6816060	0.89[AFR][1000 genomes]
rs6816094	0.89[AFR][1000 genomes]
rs6817579	0.86[AFR][1000 genomes]
rs6846116	0.93[AFR][1000 genomes]
rs6849528	1.00[ASN][1000 genomes]
rs73209462	1.00[ASN][1000 genomes]
rs73209465	1.00[ASN][1000 genomes]
rs73209470	1.00[ASN][1000 genomes]
rs73209473	1.00[ASN][1000 genomes]
rs73209478	1.00[ASN][1000 genomes]
rs73209480	1.00[ASN][1000 genomes]
rs73209481	1.00[ASN][1000 genomes]
rs73209488	1.00[ASN][1000 genomes]
rs73209489	1.00[ASN][1000 genomes]
rs73209502	1.00[ASN][1000 genomes]
rs73211306	1.00[ASN][1000 genomes]
rs73211309	1.00[ASN][1000 genomes]
rs73211315	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73211334	1.00[ASN][1000 genomes]
rs73211338	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73211340	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73211347	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73211357	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73211359	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73211365	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73211366	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73211368	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73211373	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73211375	1.00[ASN][1000 genomes]
rs73211378	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73211381	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73211383	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73211388	0.82[EUR][1000 genomes]
rs73211394	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73211401	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73213403	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73213404	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73213405	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73213406	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73213408	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73213409	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73213410	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73213413	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73213414	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73213420	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs73213426	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73223242	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73223246	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73223250	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73223257	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73223259	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73223263	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73223264	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73223266	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73223271	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73223275	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73223282	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73223294	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7686550	1.00[ASN][1000 genomes]
rs9761200	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	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
3	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
4	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
5	esv3338691	chr4:8479502-8482000	Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:8447400-8482200	Strong transcription	Primary T cells from cord blood	blood
2	chr4:8465200-8482200	Strong transcription	Brain Germinal Matrix	brain
3	chr4:8467600-8482200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr4:8471800-8483200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr4:8473600-8501400	Weak transcription	Brain Substantia Nigra	brain
6	chr4:8475600-8491400	Weak transcription	Aorta	Aorta
7	chr4:8475800-8491800	Weak transcription	Colon Smooth Muscle	Colon
8	chr4:8476200-8481800	Strong transcription	Fetal Stomach	stomach
9	chr4:8476600-8481800	Strong transcription	Fetal Muscle Trunk	muscle
10	chr4:8477400-8481800	Strong transcription	Fetal Muscle Leg	muscle
11	chr4:8477800-8482800	Weak transcription	Fetal Lung	lung
12	chr4:8478000-8481800	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr4:8478000-8500200	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr4:8478200-8481800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr4:8478200-8482000	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr4:8478200-8491400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr4:8478400-8482000	Weak transcription	Fetal Thymus	thymus
18	chr4:8478400-8482400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr4:8478600-8481800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr4:8478600-8490400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr4:8478600-8492000	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr4:8478800-8483800	Weak transcription	Brain Anterior Caudate	brain
23	chr4:8479000-8482000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr4:8479000-8482600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr4:8479000-8482800	Weak transcription	Duodenum Mucosa	Duodenum
26	chr4:8479000-8483200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr4:8479200-8482400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr4:8479200-8486200	Weak transcription	Pancreas	Pancrea
29	chr4:8479200-8488400	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr4:8479200-8501400	Weak transcription	Liver	Liver
31	chr4:8479400-8481800	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr4:8479400-8491200	Weak transcription	Rectal Smooth Muscle	rectum
33	chr4:8479600-8482000	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr4:8479600-8482800	Weak transcription	Brain Angular Gyrus	brain
35	chr4:8479600-8485200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr4:8479600-8490800	Weak transcription	Primary B cells from peripheral blood	blood
37	chr4:8479600-8490800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr4:8479800-8494600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr4:8480000-8482800	Weak transcription	Fetal Intestine Large	intestine
40	chr4:8480000-8493000	Weak transcription	Gastric	stomach
41	chr4:8480200-8481800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr4:8480200-8481800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr4:8480200-8481800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr4:8480200-8481800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr4:8480200-8482000	Weak transcription	Adipose Nuclei	Adipose
46	chr4:8480200-8482200	Enhancers	K562	blood
47	chr4:8480200-8486200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr4:8480200-8498400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
49	chr4:8480200-8501400	Weak transcription	Brain Hippocampus Middle	brain
50	chr4:8480600-8484600	Weak transcription	Thymus	Thymus

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