Variant report

Variant	rs2303649
Chromosome Location	chr5:94879134-94879135
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	EP300	chr5:94879073-94879161	K562	blood:	n/a	n/a
2	IRF1	chr5:94878980-94879562	K562	blood:	n/a	n/a
3	TCF7L2	chr5:94879127-94879275	PANC-1	pancreas:	n/a	n/a
4	MAFF	chr5:94878961-94879282	K562	blood:	n/a	n/a
5	CUX1	chr5:94879000-94879311	K562	blood:	n/a	n/a
6	STAT2	chr5:94878985-94879378	K562	blood:	n/a	chr5:94879170-94879185 chr5:94879343-94879351
7	EBF1	chr5:94879070-94879337	GM12878	blood:	n/a	chr5:94879183-94879194
8	CCNT2	chr5:94878848-94879367	K562	blood:	n/a	n/a
9	NFYA	chr5:94878825-94879355	K562	blood:	n/a	n/a
10	ZNF384	chr5:94879056-94879214	K562	blood:	n/a	n/a
11	MAFK	chr5:94879033-94879278	K562	blood:	n/a	n/a
12	BACH1	chr5:94879068-94879199	K562	blood:	n/a	n/a
13	IRF1	chr5:94878938-94879571	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:94873172..94877407-chr5:94878582..94881962,4	K562	blood:
2	chr5:94877399..94880074-chr5:94889020..94891541,2	MCF-7	breast:
3	chr5:94866250..94868865-chr5:94878722..94881259,2	K562	blood:

Variant related genes	Relation type
TTC37	TF binding region
ENSG00000198677	Chromatin interaction
ENSG00000164291	Chromatin interaction

Extended variants
information (count: 135 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:134)

rs_ID	r²[population]
rs10036119	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs10036691	0.95[ASN][1000 genomes]
rs10040367	0.92[ASN][1000 genomes]
rs10045714	0.92[ASN][1000 genomes]
rs10055673	0.92[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10056208	0.92[ASN][1000 genomes]
rs10056278	0.92[ASN][1000 genomes]
rs10057391	1.00[YRI][hapmap];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10057420	0.92[ASN][1000 genomes]
rs10063417	0.89[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs10064546	1.00[CEU][hapmap];0.92[JPT][hapmap]
rs10070711	0.97[ASN][1000 genomes]
rs10075022	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs10077070	0.92[ASN][1000 genomes]
rs10223061	0.91[ASN][1000 genomes]
rs10223134	0.92[ASN][1000 genomes]
rs10223147	0.92[ASN][1000 genomes]
rs10476648	0.92[ASN][1000 genomes]
rs10476649	0.92[ASN][1000 genomes]
rs10476652	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs10476653	0.95[ASN][1000 genomes]
rs10476654	0.95[ASN][1000 genomes]
rs10491246	0.92[JPT][hapmap];0.92[ASN][1000 genomes]
rs10515228	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1062073	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs1062075	0.89[ASN][1000 genomes]
rs1062077	0.89[ASN][1000 genomes]
rs1062083	0.89[ASN][1000 genomes]
rs10866765	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs11135426	0.92[ASN][1000 genomes]
rs11135429	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs1139111	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs1139114	0.92[ASN][1000 genomes]
rs11948407	0.92[ASN][1000 genomes]
rs11948489	0.97[ASN][1000 genomes]
rs11949044	0.92[ASN][1000 genomes]
rs11950190	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs11953160	1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs11953633	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs11958720	0.94[ASN][1000 genomes]
rs11959401	0.94[ASN][1000 genomes]
rs12054689	0.92[ASN][1000 genomes]
rs12054916	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs12055264	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs12189111	0.97[ASN][1000 genomes]
rs13355280	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17084769	0.92[ASN][1000 genomes]
rs17084779	0.92[ASN][1000 genomes]
rs17084816	0.92[ASN][1000 genomes]
rs17084817	0.92[ASN][1000 genomes]
rs17084839	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs17084852	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs17084867	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs17084873	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs17084904	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17084909	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17084927	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17084933	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2042871	0.92[ASN][1000 genomes]
rs2278224	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2303650	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs28376538	0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28491117	0.84[ASN][1000 genomes]
rs3776875	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs3776876	0.92[ASN][1000 genomes]
rs3822616	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs3822617	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3822618	0.89[ASN][1000 genomes]
rs3849752	0.92[ASN][1000 genomes]
rs3849753	0.89[ASN][1000 genomes]
rs3849754	0.92[ASN][1000 genomes]
rs3849755	0.92[ASN][1000 genomes]
rs3931769	0.92[ASN][1000 genomes]
rs55679859	0.92[ASN][1000 genomes]
rs58373522	0.97[ASN][1000 genomes]
rs58405178	0.91[ASN][1000 genomes]
rs60954465	0.94[ASN][1000 genomes]
rs62365862	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6556874	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs6556876	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs6859731	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6866194	1.00[CHB][hapmap];0.92[JPT][hapmap];0.97[ASN][1000 genomes]
rs6878974	1.00[CHB][hapmap];0.92[JPT][hapmap];0.94[ASN][1000 genomes]
rs6880676	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6881618	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs6891486	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs6897586	0.95[ASN][1000 genomes]
rs73141954	0.84[ASN][1000 genomes]
rs73143969	0.92[ASN][1000 genomes]
rs73143972	0.87[ASN][1000 genomes]
rs73143974	0.92[ASN][1000 genomes]
rs73145973	0.89[ASN][1000 genomes]
rs73145974	0.92[ASN][1000 genomes]
rs73145991	0.92[ASN][1000 genomes]
rs73777201	0.94[ASN][1000 genomes]
rs73777219	0.97[ASN][1000 genomes]
rs73777221	0.97[ASN][1000 genomes]
rs73778853	0.92[ASN][1000 genomes]
rs7703285	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs7703948	0.92[ASN][1000 genomes]
rs7705862	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs7706837	0.92[ASN][1000 genomes]
rs7707851	0.92[ASN][1000 genomes]
rs7707854	0.92[ASN][1000 genomes]
rs7709709	0.94[ASN][1000 genomes]
rs7709828	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs7710228	0.88[CHB][hapmap];0.92[JPT][hapmap];0.84[ASN][1000 genomes]
rs7715350	0.94[ASN][1000 genomes]
rs7722225	1.00[CEU][hapmap];0.88[CHB][hapmap];0.92[JPT][hapmap];0.89[ASN][1000 genomes]
rs7722969	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs7723951	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs7724147	0.92[ASN][1000 genomes]
rs7724683	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs7724730	0.92[ASN][1000 genomes]
rs7725190	0.92[ASN][1000 genomes]
rs7725219	0.92[ASN][1000 genomes]
rs7725419	0.89[ASN][1000 genomes]
rs7727453	0.92[ASN][1000 genomes]
rs7727455	0.89[ASN][1000 genomes]
rs7727608	0.91[ASN][1000 genomes]
rs7733476	0.92[ASN][1000 genomes]
rs7737266	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs890739	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs9285017	0.92[ASN][1000 genomes]
rs9314142	0.92[ASN][1000 genomes]
rs9314143	0.92[ASN][1000 genomes]
rs9314144	0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9314145	0.92[ASN][1000 genomes]
rs9314146	0.92[ASN][1000 genomes]
rs9314147	0.92[ASN][1000 genomes]
rs9885158	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9885192	0.92[ASN][1000 genomes]
rs9885291	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs9885310	0.92[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv882388	chr5:94764006-94925849	Weak transcription Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:94811000-94889400	Weak transcription	Stomach Mucosa	stomach
2	chr5:94818000-94882400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr5:94825000-94886200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr5:94825400-94886400	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr5:94826000-94886400	Strong transcription	Primary T helper cells fromperipheralblood	blood
6	chr5:94826800-94886400	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr5:94827200-94889600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr5:94828800-94885800	Strong transcription	Fetal Thymus	thymus
9	chr5:94835200-94881000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr5:94841400-94883400	Strong transcription	Primary B cells from cord blood	blood
11	chr5:94841800-94886000	Strong transcription	Primary T cells fromperipheralblood	blood
12	chr5:94842000-94884800	Strong transcription	Dnd41	blood
13	chr5:94842200-94882000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr5:94842200-94886000	Strong transcription	Primary B cells from peripheral blood	blood
15	chr5:94845600-94879800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr5:94846600-94881000	Weak transcription	Gastric	stomach
17	chr5:94847400-94890000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr5:94849200-94890000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr5:94849800-94879800	Weak transcription	Fetal Stomach	stomach
20	chr5:94849800-94881400	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr5:94850600-94879200	Weak transcription	Small Intestine	intestine
22	chr5:94851800-94881200	Weak transcription	Right Ventricle	heart
23	chr5:94853800-94879800	Weak transcription	Lung	lung
24	chr5:94853800-94880400	Weak transcription	Pancreas	Pancrea
25	chr5:94853800-94890000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr5:94857600-94884800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr5:94864400-94889400	Weak transcription	Rectal Smooth Muscle	rectum
28	chr5:94865200-94880200	Weak transcription	Spleen	Spleen
29	chr5:94865200-94889400	Weak transcription	Esophagus	oesophagus
30	chr5:94865200-94890000	Weak transcription	Aorta	Aorta
31	chr5:94866000-94880200	Weak transcription	Colon Smooth Muscle	Colon
32	chr5:94866400-94880200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr5:94866600-94881000	Weak transcription	NHEK	skin
34	chr5:94867400-94880800	Weak transcription	Fetal Heart	heart
35	chr5:94867400-94886000	Strong transcription	Adipose Nuclei	Adipose
36	chr5:94867600-94879200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr5:94868400-94879200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr5:94868800-94886000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr5:94869400-94883000	Strong transcription	Primary hematopoietic stem cells	blood
40	chr5:94869400-94889000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr5:94869600-94883200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
42	chr5:94869800-94881400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr5:94870000-94883000	Strong transcription	Primary neutrophils fromperipheralblood	blood
44	chr5:94870000-94886200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr5:94870200-94885800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr5:94870200-94889000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr5:94870400-94879200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr5:94870400-94879400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr5:94870400-94883200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr5:94870400-94885000	Strong transcription	NH-A	brain

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