Variant report

Variant	rs28587776
Chromosome Location	chr5:177030177-177030178
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	MAFK	chr5:177030142-177030269	HepG2	liver:	n/a	chr5:177030211-177030222
2	POLR2A	chr5:177030061-177030250	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:176979030..176982090-chr5:177027612..177030348,3	K562	blood:
2	chr5:177028879..177031069-chr5:177037476..177041584,3	MCF-7	breast:

Variant related genes	Relation type
B4GALT7	TF binding region
ENSG00000272459	Chromatin interaction
ENSG00000146067	Chromatin interaction
ENSG00000247679	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs11537644	0.98[ASN][1000 genomes]
rs12515264	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12515554	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13169820	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13175194	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13175367	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13185565	0.81[EUR][1000 genomes]
rs13187467	0.87[EUR][1000 genomes]
rs189243	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28499263	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28693973	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28712028	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2878523	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs335485	0.90[ASN][1000 genomes]
rs337341	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs337362	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34457379	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34582406	0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34708092	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34857879	0.82[EUR][1000 genomes]
rs36092039	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs364970	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs366470	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs461163	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs461259	0.87[ASN][1000 genomes]
rs62398479	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72815179	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7718106	0.83[EUR][1000 genomes]
rs834549	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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
6	nsv883183	chr5:177019379-177030351	Flanking Active TSS Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs28587776	B4GALT7	cis	Whole Blood	GTEx
rs28587776	FAM153C	cis	Esophagus Muscularis	GTEx

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:177028000-177030600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr5:177028000-177032200	Weak transcription	Aorta	Aorta
3	chr5:177028000-177034200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr5:177028000-177034200	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr5:177028000-177040000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr5:177028200-177031400	Weak transcription	Thymus	Thymus
7	chr5:177028200-177033600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr5:177028200-177034200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr5:177028200-177034400	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr5:177028200-177035600	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr5:177028200-177036400	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr5:177028200-177038000	Weak transcription	Right Atrium	heart
13	chr5:177028400-177030200	Weak transcription	Placenta	Placenta
14	chr5:177028400-177030200	Weak transcription	HSMMtube	muscle
15	chr5:177028400-177030400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr5:177028400-177030400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr5:177028400-177030600	Weak transcription	Spleen	Spleen
18	chr5:177028400-177030800	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr5:177028400-177031200	Weak transcription	Colonic Mucosa	Colon
20	chr5:177028400-177031600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr5:177028400-177031800	Weak transcription	Primary T cells from cord blood	blood
22	chr5:177028400-177031800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr5:177028400-177032000	Weak transcription	Lung	lung
24	chr5:177028400-177032000	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr5:177028400-177032200	Weak transcription	Monocytes-CD14+_RO01746	blood
26	chr5:177028400-177034000	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr5:177028400-177034000	Weak transcription	A549	lung
28	chr5:177028400-177034200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr5:177028400-177034200	Weak transcription	Rectal Smooth Muscle	rectum
30	chr5:177028400-177034800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr5:177028400-177036600	Weak transcription	HMEC	breast
32	chr5:177028400-177040200	Weak transcription	Primary hematopoietic stem cells	blood
33	chr5:177028400-177042600	Weak transcription	Primary B cells from cord blood	blood
34	chr5:177028400-177044800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr5:177028400-177045800	Weak transcription	Left Ventricle	heart
36	chr5:177028400-177045800	Weak transcription	Psoas Muscle	Psoas
37	chr5:177028400-177048400	Weak transcription	NH-A	brain
38	chr5:177028600-177030600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr5:177028600-177030800	Weak transcription	Fetal Intestine Large	intestine
40	chr5:177028600-177031200	Weak transcription	Brain Germinal Matrix	brain
41	chr5:177028600-177031400	Weak transcription	Primary monocytes fromperipheralblood	blood
42	chr5:177028600-177031400	Weak transcription	Fetal Muscle Leg	muscle
43	chr5:177028600-177031800	Weak transcription	NHLF	lung
44	chr5:177028600-177032000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr5:177028600-177032200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr5:177028600-177032600	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr5:177028600-177033200	Weak transcription	Osteobl	bone
48	chr5:177028600-177034000	Weak transcription	Primary B cells from peripheral blood	blood
49	chr5:177028600-177034000	Weak transcription	Colon Smooth Muscle	Colon
50	chr5:177028600-177034200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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