Variant report

Variant	rs7704026
Chromosome Location	chr5:118667253-118667254
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	CHD2	chr5:118667241-118667398	K562	blood:	n/a	n/a
2	MAX	chr5:118667137-118667761	K562	blood:	n/a	n/a
3	MYC	chr5:118665459-118667383	K562	blood:	n/a	n/a
4	EP300	chr5:118665722-118668426	K562	blood:	n/a	chr5:118666931-118666945 chr5:118667809-118667823 chr5:118665885-118665899 chr5:118666930-118666944
5	TBP	chr5:118667211-118667651	K562	blood:	n/a	n/a
6	POLR2A	chr5:118664701-118667427	K562	blood:	n/a	n/a
7	GATA1	chr5:118665615-118668722	K562	blood:	n/a	chr5:118666137-118666154 chr5:118666483-118666492 chr5:118667718-118667739 chr5:118666485-118666492 chr5:118666097-118666109
8	RCOR1	chr5:118667119-118667740	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:118623648..118626074-chr5:118666762..118668589,2	MCF-7	breast:
2	chr5:118662612..118665528-chr5:118665801..118667898,2	MCF-7	breast:
3	chr5:118666728..118668661-chr5:118669320..118670898,2	MCF-7	breast:
4	chr5:118405258..118407472-chr5:118664950..118669105,3	K562	blood:
5	chr5:118405258..118407734-chr5:118663807..118667698,3	K562	blood:

Variant related genes	Relation type
TNFAIP8	TF binding region
ENSG00000249494	Chromatin interaction
ENSG00000172869	Chromatin interaction

Extended variants
information (count: 90 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:85)

rs_ID	r²[population]
rs10052899	1.00[JPT][hapmap]
rs10052962	1.00[JPT][hapmap]
rs10060971	1.00[JPT][hapmap]
rs11950366	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11951771	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11954854	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11955852	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11956042	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11956215	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11956285	1.00[ASW][hapmap];0.85[CEU][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.94[MKK][hapmap];0.90[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11958957	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11959451	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11959659	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11959729	1.00[CEU][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11959964	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11960246	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11960654	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17145189	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17145194	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17145196	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17145198	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17164572	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1876736	0.88[LWK][hapmap];0.85[MKK][hapmap];0.90[YRI][hapmap]
rs1876737	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3813301	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3813302	1.00[CHB][hapmap];0.95[ASN][1000 genomes]
rs3813303	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3813304	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.90[TSI][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3813305	0.82[CEU][hapmap];0.90[TSI][hapmap];0.84[EUR][1000 genomes]
rs4392658	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60161062	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60507834	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60756572	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs66535134	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs67154545	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67311526	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67708265	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6861849	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6862299	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6862320	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6862517	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6862831	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6868688	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6868702	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6869017	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6875361	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6883394	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72786136	0.98[EUR][1000 genomes]
rs72786141	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72786142	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72786143	0.98[EUR][1000 genomes]
rs72786144	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72786149	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72786152	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72786157	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72786159	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72786161	0.98[EUR][1000 genomes]
rs73235259	0.89[ASN][1000 genomes]
rs73235260	0.89[ASN][1000 genomes]
rs73790807	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7703577	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7703998	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7704291	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7704326	0.89[ASN][1000 genomes]
rs7704334	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7704386	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7704398	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7704487	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7707221	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7707736	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7710939	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7711101	1.00[CEU][hapmap];0.94[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7711312	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7712227	0.98[EUR][1000 genomes]
rs7719094	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs7721976	1.00[CHD][hapmap];0.89[ASN][1000 genomes]
rs7722687	1.00[CEU][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7722699	1.00[CEU][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.90[TSI][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7723976	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7724082	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7724178	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7724204	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7725244	0.98[EUR][1000 genomes]
rs7725878	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7737934	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];1.00[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	esv2757136	chr5:118555863-118667748	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	esv2759374	chr5:118555863-118667748	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv1024648	chr5:118608175-118678268	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv869828	chr5:118610548-118691190	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv599565	chr5:118661882-118691888	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118658200-118670400	Weak transcription	Lung	lung
2	chr5:118659600-118677800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr5:118660200-118675600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr5:118660200-118678600	Weak transcription	HepG2	liver
5	chr5:118660400-118668600	Enhancers	Primary hematopoietic stem cells	blood
6	chr5:118660400-118670400	Weak transcription	Right Atrium	heart
7	chr5:118662600-118669000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr5:118662600-118670400	Weak transcription	Right Ventricle	heart
9	chr5:118662800-118668800	Enhancers	Primary T cells fromperipheralblood	blood
10	chr5:118663000-118669600	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr5:118663400-118667600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr5:118663600-118668600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr5:118663800-118667600	Enhancers	Duodenum Mucosa	Duodenum
14	chr5:118663800-118669200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
15	chr5:118664000-118667400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
16	chr5:118664000-118667600	Enhancers	Sigmoid Colon	Sigmoid Colon
17	chr5:118664000-118668800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
18	chr5:118664200-118667600	Enhancers	Placenta	Placenta
19	chr5:118664200-118668400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr5:118664200-118671600	Weak transcription	Small Intestine	intestine
21	chr5:118664200-118673400	Enhancers	Primary neutrophils fromperipheralblood	blood
22	chr5:118664400-118678200	Weak transcription	Fetal Kidney	kidney
23	chr5:118664600-118669200	Enhancers	Colonic Mucosa	Colon
24	chr5:118664800-118668800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
25	chr5:118664800-118670600	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr5:118664800-118673000	Weak transcription	HSMM	muscle
27	chr5:118665000-118667600	Enhancers	Esophagus	oesophagus
28	chr5:118665000-118667600	Enhancers	Pancreas	Pancrea
29	chr5:118665000-118668400	Weak transcription	A549	lung
30	chr5:118665000-118670400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr5:118665000-118670600	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr5:118665000-118672600	Weak transcription	Hela-S3	cervix
33	chr5:118665200-118669200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr5:118665200-118670400	Weak transcription	Osteobl	bone
35	chr5:118665400-118667600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
36	chr5:118665400-118670600	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr5:118665400-118670600	Weak transcription	NHLF	lung
38	chr5:118665400-118677000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr5:118665600-118667400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr5:118665600-118667600	Weak transcription	NHEK	skin
41	chr5:118665600-118670000	Genic enhancers	Dnd41	blood
42	chr5:118665600-118670400	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr5:118665600-118670400	Weak transcription	Aorta	Aorta
44	chr5:118665600-118670600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr5:118665800-118667600	Enhancers	Gastric	stomach
46	chr5:118665800-118668400	Enhancers	Primary B cells from cord blood	blood
47	chr5:118665800-118668800	Enhancers	Primary B cells from peripheral blood	blood
48	chr5:118665800-118668800	Enhancers	Thymus	Thymus
49	chr5:118665800-118669000	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr5:118665800-118670600	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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