Variant report

Variant	rs3797570
Chromosome Location	chr5:115169920-115169921
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	chr5:115169728-115170524	GM12878	blood:	n/a	n/a
2	POLR2A	chr5:115169333-115170788	HCT-116	colon:	n/a	n/a
3	POLR2A	chr5:115169756-115170703	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:115169299..115172365-chr5:115175271..115177908,3	MCF-7	breast:

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

Extended variants
information (count: 55 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10434761	0.89[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs1058600	0.84[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.80[GIH][hapmap];0.95[JPT][hapmap];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10751460	0.80[ASN][1000 genomes]
rs11241336	0.81[ASN][1000 genomes]
rs11241337	0.80[ASN][1000 genomes]
rs12188972	0.81[CHD][hapmap]
rs12189155	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12513891	0.80[ASN][1000 genomes]
rs12514553	0.81[ASN][1000 genomes]
rs12517882	0.81[ASN][1000 genomes]
rs12520248	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12521324	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13157716	0.81[ASN][1000 genomes]
rs13174348	0.90[CHB][hapmap];0.81[CHD][hapmap];0.91[JPT][hapmap];0.88[ASN][1000 genomes]
rs152368	0.84[CHD][hapmap];0.81[ASN][1000 genomes]
rs152369	0.80[ASN][1000 genomes]
rs152397	0.84[CHD][hapmap];0.80[ASN][1000 genomes]
rs152398	0.82[ASN][1000 genomes]
rs154757	0.91[ASN][1000 genomes]
rs154759	0.85[ASN][1000 genomes]
rs171809	0.84[CHD][hapmap]
rs2080902	0.81[ASN][1000 genomes]
rs26529	0.94[CHD][hapmap];0.81[ASN][1000 genomes]
rs26531	0.95[CHB][hapmap];0.97[CHD][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs26533	0.97[ASN][1000 genomes]
rs26534	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs26535	0.96[ASN][1000 genomes]
rs26536	0.95[CHB][hapmap];0.94[CHD][hapmap];0.86[JPT][hapmap];0.95[ASN][1000 genomes]
rs26537	0.90[CHB][hapmap];0.94[CHD][hapmap];0.81[JPT][hapmap];0.88[ASN][1000 genomes]
rs26538	0.87[CHD][hapmap];0.81[ASN][1000 genomes]
rs34850	0.91[CHB][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs34851	0.96[ASN][1000 genomes]
rs34852	0.96[ASN][1000 genomes]
rs34869	1.00[CHB][hapmap];0.86[JPT][hapmap];0.95[YRI][hapmap];0.91[ASN][1000 genomes]
rs35053218	0.90[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs35179959	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35501287	0.82[ASN][1000 genomes]
rs35903246	0.90[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs3797568	0.81[CHD][hapmap];0.80[ASN][1000 genomes]
rs3797569	0.89[CHD][hapmap];0.80[ASN][1000 genomes]
rs40095	0.96[ASN][1000 genomes]
rs4143542	0.81[CHD][hapmap]
rs4920892	0.81[ASN][1000 genomes]
rs57633641	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs59750231	0.81[ASN][1000 genomes]
rs61381571	0.82[ASN][1000 genomes]
rs6594906	0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6872406	0.91[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];0.96[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6880889	1.00[CHB][hapmap];0.97[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs71581214	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7707539	0.80[ASN][1000 genomes]
rs7713314	0.82[ASN][1000 genomes]
rs7726368	0.94[EUR][1000 genomes];0.99[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

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs3797570	AQPEP	cis	parietal	SCAN
rs3797570	EPB41L4A	cis	parietal	SCAN
rs3797570	ATG12	cis	cerebellum	SCAN
rs3797570	CCDC112	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:115152800-115171200	Weak transcription	Rectal Smooth Muscle	rectum
2	chr5:115153600-115172400	Weak transcription	Fetal Brain Male	brain
3	chr5:115154600-115173000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr5:115155000-115174400	Weak transcription	Fetal Heart	heart
5	chr5:115157600-115171000	Weak transcription	Thymus	Thymus
6	chr5:115161800-115176200	Weak transcription	Gastric	stomach
7	chr5:115162000-115174400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr5:115162000-115176200	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr5:115162000-115176600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr5:115162400-115171800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr5:115162600-115175600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr5:115162800-115170400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr5:115163000-115171000	Weak transcription	Hela-S3	cervix
14	chr5:115163000-115173400	Strong transcription	Primary neutrophils fromperipheralblood	blood
15	chr5:115163000-115176400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr5:115163200-115171000	Weak transcription	HSMMtube	muscle
17	chr5:115163200-115174000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr5:115163400-115173800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr5:115163400-115173800	Strong transcription	Duodenum Mucosa	Duodenum
20	chr5:115163400-115173800	Strong transcription	NHDF-Ad	bronchial
21	chr5:115163400-115174200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr5:115163600-115171200	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr5:115163600-115173200	Strong transcription	Primary T helper cells fromperipheralblood	blood
24	chr5:115163800-115172200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr5:115163800-115173000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr5:115163800-115173400	Strong transcription	HSMM	muscle
27	chr5:115163800-115174000	Strong transcription	Fetal Thymus	thymus
28	chr5:115163800-115174400	Strong transcription	HUES64 Cell Line	embryonic stem cell
29	chr5:115163800-115174600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr5:115164000-115172800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr5:115164000-115173200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr5:115164000-115173600	Strong transcription	Osteobl	bone
33	chr5:115164000-115173800	Strong transcription	Dnd41	blood
34	chr5:115164000-115174000	Strong transcription	Primary monocytes fromperipheralblood	blood
35	chr5:115164000-115174000	Strong transcription	Monocytes-CD14+_RO01746	blood
36	chr5:115164000-115174200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr5:115164200-115173400	Strong transcription	HUVEC	blood vessel
38	chr5:115164200-115174400	Weak transcription	Pancreas	Pancrea
39	chr5:115164400-115173400	Strong transcription	Adipose Nuclei	Adipose
40	chr5:115164600-115173800	Strong transcription	Placenta	Placenta
41	chr5:115164600-115174000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
42	chr5:115165000-115171200	Weak transcription	Esophagus	oesophagus
43	chr5:115166000-115174200	Strong transcription	Primary B cells from cord blood	blood
44	chr5:115166600-115170600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr5:115166600-115172800	Strong transcription	Duodenum Smooth Muscle	Duodenum
46	chr5:115166600-115172800	Weak transcription	Fetal Stomach	stomach
47	chr5:115166600-115175200	Weak transcription	Fetal Intestine Small	intestine
48	chr5:115166600-115175600	Weak transcription	Small Intestine	intestine
49	chr5:115166800-115175000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr5:115167200-115171200	Weak transcription	Colon Smooth Muscle	Colon

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