Variant report

Variant	rs6594906
Chromosome Location	chr5:115171435-115171436
allele	C/T
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	chr5:115170955-115171713	K562	blood:	n/a	n/a
2	POLR2A	chr5:115171396-115171550	GM12891	blood:	n/a	n/a
3	POLR2A	chr5:115170791-115171680	HCT-116	colon:	n/a	n/a
4	POLR2A	chr5:115171099-115171560	GM12878	blood:	n/a	n/a
5	MAFF	chr5:115171257-115171448	K562	blood:	n/a	chr5:115171373-115171391
6	MAFK	chr5:115171251-115171556	HepG2	liver:	n/a	chr5:115171369-115171389
7	MAFK	chr5:115171227-115171477	IMR90	lung:	n/a	chr5:115171369-115171389
8	POLR2A	chr5:115171321-115171639	K562	blood:	n/a	n/a
9	MAFK	chr5:115171218-115171549	HepG2	liver:	n/a	chr5:115171369-115171389
10	POLR2A	chr5:115171407-115171488	Hela-S3	cervix:	n/a	n/a
11	MAFK	chr5:115171360-115171497	K562	blood:	n/a	chr5:115171369-115171389
12	MAFF	chr5:115171243-115171547	HepG2	liver:	n/a	chr5:115171373-115171391

No.	Distal block	Cell Line	Cell type
1	chr5:114960865..114962954-chr5:115170753..115172835,2	MCF-7	breast:
2	chr5:115137373..115139519-chr5:115171027..115172668,2	K562	blood:
3	chr5:114961228..114962989-chr5:115170828..115173503,2	MCF-7	breast:
4	chr5:115169299..115172365-chr5:115175271..115177908,3	MCF-7	breast:

Variant related genes	Relation type
ATG12	TF binding region
ENSG00000243414	Chromatin interaction
ENSG00000134970	Chromatin interaction
ENSG00000251201	Chromatin interaction
ENSG00000145782	Chromatin interaction
ENSG00000177879	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10434761	0.96[ASN][1000 genomes]
rs1058600	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11241336	0.81[ASN][1000 genomes]
rs12189155	0.83[ASN][1000 genomes]
rs12514553	0.80[ASN][1000 genomes]
rs12517882	0.81[ASN][1000 genomes]
rs12520248	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12521324	0.86[ASN][1000 genomes]
rs13157716	0.81[ASN][1000 genomes]
rs13174348	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs152368	0.81[ASN][1000 genomes]
rs152398	0.81[ASN][1000 genomes]
rs154757	0.90[ASN][1000 genomes]
rs154759	0.84[ASN][1000 genomes]
rs2080902	0.81[ASN][1000 genomes]
rs26529	0.81[ASN][1000 genomes]
rs26531	0.93[ASN][1000 genomes]
rs26533	0.98[ASN][1000 genomes]
rs26534	0.97[ASN][1000 genomes]
rs26535	0.97[ASN][1000 genomes]
rs26536	0.94[ASN][1000 genomes]
rs26537	0.88[ASN][1000 genomes]
rs26538	0.81[ASN][1000 genomes]
rs34850	0.86[ASN][1000 genomes]
rs34851	0.96[ASN][1000 genomes]
rs34852	0.85[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs34869	0.91[ASN][1000 genomes]
rs35053218	0.90[ASN][1000 genomes]
rs35179959	0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35501287	0.81[ASN][1000 genomes]
rs35903246	0.96[ASN][1000 genomes]
rs3797570	0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs40095	0.95[ASN][1000 genomes]
rs4920892	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs57633641	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59750231	0.81[ASN][1000 genomes]
rs61381571	0.81[ASN][1000 genomes]
rs6872406	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6880889	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7713314	0.81[ASN][1000 genomes]
rs7726368	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv868915	chr5:114723371-115252527	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv949677	chr5:115104829-115496168	Enhancers Weak transcription Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:115153600-115172400	Weak transcription	Fetal Brain Male	brain
2	chr5:115154600-115173000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr5:115155000-115174400	Weak transcription	Fetal Heart	heart
4	chr5:115161800-115176200	Weak transcription	Gastric	stomach
5	chr5:115162000-115174400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr5:115162000-115176200	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr5:115162000-115176600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr5:115162400-115171800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr5:115162600-115175600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr5:115163000-115173400	Strong transcription	Primary neutrophils fromperipheralblood	blood
11	chr5:115163000-115176400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr5:115163200-115174000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr5:115163400-115173800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr5:115163400-115173800	Strong transcription	Duodenum Mucosa	Duodenum
15	chr5:115163400-115173800	Strong transcription	NHDF-Ad	bronchial
16	chr5:115163400-115174200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr5:115163600-115173200	Strong transcription	Primary T helper cells fromperipheralblood	blood
18	chr5:115163800-115172200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr5:115163800-115173000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr5:115163800-115173400	Strong transcription	HSMM	muscle
21	chr5:115163800-115174000	Strong transcription	Fetal Thymus	thymus
22	chr5:115163800-115174400	Strong transcription	HUES64 Cell Line	embryonic stem cell
23	chr5:115163800-115174600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr5:115164000-115172800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr5:115164000-115173200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr5:115164000-115173600	Strong transcription	Osteobl	bone
27	chr5:115164000-115173800	Strong transcription	Dnd41	blood
28	chr5:115164000-115174000	Strong transcription	Primary monocytes fromperipheralblood	blood
29	chr5:115164000-115174000	Strong transcription	Monocytes-CD14+_RO01746	blood
30	chr5:115164000-115174200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr5:115164200-115173400	Strong transcription	HUVEC	blood vessel
32	chr5:115164200-115174400	Weak transcription	Pancreas	Pancrea
33	chr5:115164400-115173400	Strong transcription	Adipose Nuclei	Adipose
34	chr5:115164600-115173800	Strong transcription	Placenta	Placenta
35	chr5:115164600-115174000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
36	chr5:115166000-115174200	Strong transcription	Primary B cells from cord blood	blood
37	chr5:115166600-115172800	Strong transcription	Duodenum Smooth Muscle	Duodenum
38	chr5:115166600-115172800	Weak transcription	Fetal Stomach	stomach
39	chr5:115166600-115175200	Weak transcription	Fetal Intestine Small	intestine
40	chr5:115166600-115175600	Weak transcription	Small Intestine	intestine
41	chr5:115166800-115175000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr5:115168400-115174400	Weak transcription	Spleen	Spleen
43	chr5:115168400-115176400	Weak transcription	Aorta	Aorta
44	chr5:115168600-115173800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr5:115168800-115171800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr5:115168800-115173600	Strong transcription	Rectal Mucosa Donor 29	rectum
47	chr5:115168800-115174000	Strong transcription	HUES48 Cell Line	embryonic stem cell
48	chr5:115169000-115172200	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
49	chr5:115169000-115173000	Strong transcription	Brain Hippocampus Middle	brain
50	chr5:115169000-115173200	Strong transcription	Primary T helper cells PMA-I stimulated	--

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