Variant report

Variant	rs2046511
Chromosome Location	chr5:177030744-177030745
allele	C/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	FOXA2	chr5:177030448-177030749	A549	lung:	n/a	n/a
2	POLR2A	chr5:177030469-177030768	HepG2	liver:	n/a	n/a
3	POLR2A	chr5:177030685-177031935	Hela-S3	cervix:	n/a	n/a
4	FOXA2	chr5:177030511-177030792	A549	lung:	n/a	n/a
5	POLR2A	chr5:177030651-177031061	K562	blood:	n/a	n/a
6	MAX	chr5:177030562-177031998	HCT-116	colon:	n/a	chr5:177031553-177031563 chr5:177031549-177031559 chr5:177031143-177031153
7	ZNF263	chr5:177030651-177031024	HEK293-T-REx	kidney:	n/a	chr5:177030824-177030833
8	POLR2A	chr5:177030694-177030845	MCF10A-Er-Src	breast:	n/a	n/a
9	POLR2A	chr5:177030713-177030839	H1-hESC	embryonic stem cell:	n/a	n/a
10	HCFC1	chr5:177030490-177031569	Hela-S3	cervix:	n/a	n/a
11	POLR2A	chr5:177030652-177031224	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:177028879..177031069-chr5:177037476..177041584,3	MCF-7	breast:
2	chr5:176978227..176980470-chr5:177030532..177033432,2	MCF-7	breast:

Variant related genes	Relation type
B4GALT7	TF binding region
ENSG00000146067	Chromatin interaction
ENSG00000247679	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs168080	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs168081	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1843633	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs186803	0.95[ASN][1000 genomes]
rs1872624	0.80[ASN][1000 genomes]
rs234375	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28403900	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28461466	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28496282	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs337340	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs337361	0.86[ASN][1000 genomes]
rs337364	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs337365	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs430797	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs446709	0.86[ASN][1000 genomes]
rs6600950	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs901379	0.82[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	nsv916108	chr5:176688459-177078723	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
2	nsv1024444	chr5:176751921-177427715	Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	142 gene(s)	inside rSNPs	diseases
3	esv2752795	chr5:176898619-177488281	Active TSS Strong transcription Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
4	nsv883181	chr5:176978496-177034786	Bivalent/Poised TSS Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
5	nsv883182	chr5:176980995-177322056	Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2046511	B4GALT7	cis	Whole Blood	GTEx
rs2046511	TMED9	Cis_1M	lymphoblastoid	RTeQTL
rs2046511	FAM153C	cis	Esophagus Muscularis	GTEx

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:177028000-177032200	Weak transcription	Aorta	Aorta
2	chr5:177028000-177034200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr5:177028000-177034200	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr5:177028000-177040000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr5:177028200-177031400	Weak transcription	Thymus	Thymus
6	chr5:177028200-177033600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr5:177028200-177034200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr5:177028200-177034400	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr5:177028200-177035600	Weak transcription	Primary neutrophils fromperipheralblood	blood
10	chr5:177028200-177036400	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr5:177028200-177038000	Weak transcription	Right Atrium	heart
12	chr5:177028400-177030800	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr5:177028400-177031200	Weak transcription	Colonic Mucosa	Colon
14	chr5:177028400-177031600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr5:177028400-177031800	Weak transcription	Primary T cells from cord blood	blood
16	chr5:177028400-177031800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr5:177028400-177032000	Weak transcription	Lung	lung
18	chr5:177028400-177032000	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr5:177028400-177032200	Weak transcription	Monocytes-CD14+_RO01746	blood
20	chr5:177028400-177034000	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr5:177028400-177034000	Weak transcription	A549	lung
22	chr5:177028400-177034200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr5:177028400-177034200	Weak transcription	Rectal Smooth Muscle	rectum
24	chr5:177028400-177034800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr5:177028400-177036600	Weak transcription	HMEC	breast
26	chr5:177028400-177040200	Weak transcription	Primary hematopoietic stem cells	blood
27	chr5:177028400-177042600	Weak transcription	Primary B cells from cord blood	blood
28	chr5:177028400-177044800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr5:177028400-177045800	Weak transcription	Left Ventricle	heart
30	chr5:177028400-177045800	Weak transcription	Psoas Muscle	Psoas
31	chr5:177028400-177048400	Weak transcription	NH-A	brain
32	chr5:177028600-177030800	Weak transcription	Fetal Intestine Large	intestine
33	chr5:177028600-177031200	Weak transcription	Brain Germinal Matrix	brain
34	chr5:177028600-177031400	Weak transcription	Primary monocytes fromperipheralblood	blood
35	chr5:177028600-177031400	Weak transcription	Fetal Muscle Leg	muscle
36	chr5:177028600-177031800	Weak transcription	NHLF	lung
37	chr5:177028600-177032000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr5:177028600-177032200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr5:177028600-177032600	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr5:177028600-177033200	Weak transcription	Osteobl	bone
41	chr5:177028600-177034000	Weak transcription	Primary B cells from peripheral blood	blood
42	chr5:177028600-177034000	Weak transcription	Colon Smooth Muscle	Colon
43	chr5:177028600-177034200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr5:177028600-177034200	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr5:177028600-177034400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr5:177028600-177034400	Weak transcription	Fetal Thymus	thymus
47	chr5:177028600-177034600	Weak transcription	Fetal Kidney	kidney
48	chr5:177028600-177034800	Weak transcription	NHEK	skin
49	chr5:177028600-177041200	Weak transcription	Fetal Lung	lung
50	chr5:177028600-177046400	Weak transcription	Primary T killer memory cells from peripheral blood	blood

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