Variant report

Variant	rs4331909
Chromosome Location	chr5:43517232-43517233
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:43513317..43518816-chr5:43554982..43559074,7	K562	blood:
2	chr5:43481776..43485753-chr5:43513662..43518339,9	MCF-7	breast:
3	chr5:43515581..43518178-chr5:43521503..43523427,2	K562	blood:
4	chr5:43503310..43506193-chr5:43515154..43517411,2	MCF-7	breast:
5	chr5:43517204..43520690-chr5:43533349..43537040,3	K562	blood:
6	chr5:43482660..43486669-chr5:43512252..43517355,11	K562	blood:
7	chr5:43513317..43519979-chr5:43552519..43558793,19	K562	blood:
8	chr5:43515775..43517317-chr5:43528629..43530666,2	MCF-7	breast:
9	chr5:43512478..43519226-chr5:43552704..43558861,10	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000172239	Chromatin interaction
ENSG00000249492	Chromatin interaction
ENSG00000151881	Chromatin interaction
ENSG00000172244	Chromatin interaction

Extended variants
information (count: 146 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:141)

rs_ID	r²[population]
rs10036954	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10038545	0.81[ASN][1000 genomes]
rs10038608	0.89[EUR][1000 genomes]
rs10042992	0.85[EUR][1000 genomes]
rs10045400	0.83[EUR][1000 genomes]
rs10045455	0.91[EUR][1000 genomes]
rs10053229	0.92[ASN][1000 genomes]
rs10058558	0.90[EUR][1000 genomes]
rs10059912	1.00[ASN][1000 genomes]
rs10059993	0.83[ASN][1000 genomes]
rs10061165	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10065689	0.83[ASN][1000 genomes]
rs10066408	0.92[ASN][1000 genomes]
rs10068064	0.92[ASN][1000 genomes]
rs10074682	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10447144	0.88[EUR][1000 genomes]
rs10462051	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10473311	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10941640	0.91[EUR][1000 genomes]
rs11949083	0.86[ASN][1000 genomes]
rs11958046	0.86[ASN][1000 genomes]
rs12332560	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12521249	0.96[ASN][1000 genomes]
rs12651879	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12659369	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12697452	0.81[EUR][1000 genomes]
rs12697457	0.96[ASN][1000 genomes]
rs13185343	0.91[EUR][1000 genomes]
rs13189004	0.86[EUR][1000 genomes]
rs13189484	0.87[ASN][1000 genomes]
rs13359906	0.96[ASN][1000 genomes]
rs1366410	0.81[ASN][1000 genomes]
rs1389868	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1389869	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1428640	0.88[EUR][1000 genomes]
rs2013173	0.88[EUR][1000 genomes]
rs2131999	0.81[EUR][1000 genomes]
rs2132000	0.91[EUR][1000 genomes]
rs2132001	0.81[ASN][1000 genomes]
rs2132003	0.84[ASN][1000 genomes]
rs2172763	0.90[EUR][1000 genomes]
rs28437972	1.00[ASN][1000 genomes]
rs28606458	0.82[ASN][1000 genomes]
rs34007811	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35710460	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs35881272	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs36013953	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3776423	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3806870	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4072918	1.00[ASN][1000 genomes]
rs4072919	1.00[ASN][1000 genomes]
rs4073848	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4073850	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4073851	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4074777	0.92[ASN][1000 genomes]
rs4242099	0.88[EUR][1000 genomes]
rs4308491	0.90[EUR][1000 genomes]
rs4367306	0.90[EUR][1000 genomes]
rs4386738	0.96[ASN][1000 genomes]
rs4415083	0.90[EUR][1000 genomes]
rs4428418	0.90[ASN][1000 genomes]
rs4467713	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4513704	0.90[EUR][1000 genomes]
rs4535459	0.96[ASN][1000 genomes]
rs4541663	0.88[EUR][1000 genomes]
rs4576155	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4866746	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4866833	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4866835	1.00[ASN][1000 genomes]
rs55641556	0.89[EUR][1000 genomes]
rs55667604	0.96[ASN][1000 genomes]
rs55855322	1.00[ASN][1000 genomes]
rs56008952	0.98[ASN][1000 genomes]
rs56097465	0.90[ASN][1000 genomes]
rs56252541	0.82[ASN][1000 genomes]
rs56333629	0.88[ASN][1000 genomes]
rs56400900	0.89[EUR][1000 genomes]
rs57403343	0.92[ASN][1000 genomes]
rs57547662	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs57597020	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs59001943	1.00[ASN][1000 genomes]
rs59224335	0.90[ASN][1000 genomes]
rs60297702	1.00[ASN][1000 genomes]
rs6451692	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6451693	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6451695	0.80[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6451696	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6451698	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6451699	0.81[ASN][1000 genomes]
rs6451703	0.90[EUR][1000 genomes]
rs6451704	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6451705	0.84[ASN][1000 genomes]
rs6451706	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6451712	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66495712	0.81[ASN][1000 genomes]
rs67466542	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs67581152	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6858942	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6859344	0.81[EUR][1000 genomes]
rs6860493	0.84[ASN][1000 genomes]
rs6861704	0.90[EUR][1000 genomes]
rs6862102	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6865217	0.90[EUR][1000 genomes]
rs6866325	1.00[ASN][1000 genomes]
rs6866802	1.00[ASN][1000 genomes]
rs6869933	1.00[ASN][1000 genomes]
rs6870018	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6870783	0.91[EUR][1000 genomes]
rs6878770	0.81[ASN][1000 genomes]
rs6883661	0.88[EUR][1000 genomes]
rs6884661	1.00[ASN][1000 genomes]
rs6885679	0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs6891363	1.00[ASN][1000 genomes]
rs6895327	0.92[ASN][1000 genomes]
rs6896693	0.84[ASN][1000 genomes]
rs6898866	0.86[ASN][1000 genomes]
rs72756535	0.92[ASN][1000 genomes]
rs72758674	0.84[ASN][1000 genomes]
rs73100614	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs750582	0.84[EUR][1000 genomes]
rs750584	0.84[EUR][1000 genomes]
rs7705166	0.86[ASN][1000 genomes]
rs7706431	0.86[ASN][1000 genomes]
rs7707976	0.85[EUR][1000 genomes]
rs7708369	0.84[EUR][1000 genomes]
rs7708443	0.85[EUR][1000 genomes]
rs7710628	0.92[ASN][1000 genomes]
rs7713479	0.90[ASN][1000 genomes]
rs7715782	0.94[ASN][1000 genomes]
rs7717636	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7724571	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7731091	0.87[EUR][1000 genomes]
rs7732656	0.84[ASN][1000 genomes]
rs7734393	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7735243	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7736615	0.94[ASN][1000 genomes]
rs9292883	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9686159	0.85[EUR][1000 genomes]
rs9687341	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9885189	0.96[ASN][1000 genomes]
rs9885467	0.86[AMR][1000 genomes];0.91[EUR][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	nsv881017	chr5:43444826-43731692	Weak transcription Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	222 gene(s)	inside rSNPs	diseases
2	nsv830275	chr5:43469511-43639384	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	220 gene(s)	inside rSNPs	diseases
3	esv1835057	chr5:43515280-43557405	Active TSS Flanking Active TSS Genic enhancers Strong transcription Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
4	esv1835614	chr5:43515280-43561759	Genic enhancers Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
5	esv1837000	chr5:43515280-43561759	Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	78 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	chr5:43515400-43523800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:43515400-43524000	Weak transcription	Spleen	Spleen
3	chr5:43515600-43523400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr5:43515600-43523800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr5:43515600-43523800	Weak transcription	Gastric	stomach
6	chr5:43515600-43533800	Weak transcription	Small Intestine	intestine
7	chr5:43515600-43534000	Weak transcription	Esophagus	oesophagus
8	chr5:43515800-43523400	Weak transcription	Lung	lung
9	chr5:43515800-43523800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr5:43515800-43523800	Weak transcription	Ovary	ovary
11	chr5:43515800-43525400	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr5:43515800-43525600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr5:43516000-43519200	Weak transcription	Fetal Intestine Small	intestine
14	chr5:43516000-43523200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr5:43516000-43523200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr5:43516000-43523200	Weak transcription	Fetal Muscle Trunk	muscle
17	chr5:43516000-43523200	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr5:43516000-43523400	Weak transcription	Primary T cells from cord blood	blood
19	chr5:43516000-43523400	Weak transcription	Fetal Brain Female	brain
20	chr5:43516000-43523400	Weak transcription	Left Ventricle	heart
21	chr5:43516000-43523400	Weak transcription	Psoas Muscle	Psoas
22	chr5:43516000-43523400	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr5:43516000-43523800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr5:43516000-43523800	Weak transcription	Brain Germinal Matrix	brain
25	chr5:43516000-43523800	Weak transcription	Right Ventricle	heart
26	chr5:43516000-43524000	Weak transcription	Primary T helper cells fromperipheralblood	blood
27	chr5:43516000-43524000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr5:43516000-43524000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr5:43516000-43524000	Weak transcription	Aorta	Aorta
30	chr5:43516000-43525000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr5:43516000-43525200	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr5:43516000-43525200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr5:43516000-43525200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr5:43516000-43525200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr5:43516000-43525200	Weak transcription	Fetal Brain Male	brain
36	chr5:43516000-43525400	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr5:43516000-43525400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr5:43516000-43525400	Weak transcription	Rectal Smooth Muscle	rectum
39	chr5:43516000-43525600	Weak transcription	NHDF-Ad	bronchial
40	chr5:43516000-43527400	Weak transcription	Primary T helper cells PMA-I stimulated	--
41	chr5:43516000-43528000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
42	chr5:43516000-43528200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr5:43516000-43529400	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr5:43516000-43533800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr5:43516000-43534000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr5:43516200-43523200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr5:43516200-43523200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr5:43516200-43523200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr5:43516200-43523200	Weak transcription	Primary B cells from cord blood	blood
50	chr5:43516200-43523200	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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