Variant report

Variant	rs7718106
Chromosome Location	chr5:177035311-177035312
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr5:177034437-177035415	MCF10A-Er-Src	breast:	n/a	n/a
2	SMC3	chr5:177033978-177035334	SK-N-SH	brain:	n/a	n/a
3	JUND	chr5:177034390-177035323	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr5:177034441-177035452	K562	blood:	n/a	n/a
5	POLR2A	chr5:177034087-177039636	SK-N-MC	brain:	n/a	n/a
6	POLR2A	chr5:177034240-177035372	GM12878	blood:	n/a	n/a
7	POLR2A	chr5:177034128-177035327	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:177032232..177035500-chr5:177036959..177040383,4	MCF-7	breast:
2	chr5:176956411..176959314-chr5:177032999..177035750,2	K562	blood:
3	chr5:176942970..176944777-chr5:177033617..177035543,2	MCF-7	breast:
4	chr5:176829222..176832099-chr5:177033371..177036238,2	K562	blood:
5	chr5:176923645..176926507-chr5:177035246..177038118,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000247679	TF binding region
ENSG00000146067	Chromatin interaction
ENSG00000198055	Chromatin interaction
ENSG00000247679	Chromatin interaction
ENSG00000196923	Chromatin interaction
ENSG00000131187	Chromatin interaction
ENSG00000183258	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs12515264	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12515554	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13169820	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13175194	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13175367	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13185565	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13187467	0.86[EUR][1000 genomes]
rs28587776	0.83[EUR][1000 genomes]
rs34457379	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34582406	0.81[EUR][1000 genomes]
rs34708092	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34857879	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs36092039	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs461259	0.84[ASN][1000 genomes]
rs62398479	0.84[EUR][1000 genomes]
rs72815179	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7718106	B4GALT7	cis	Whole Blood	GTEx

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:177028000-177040000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr5:177028200-177035600	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr5:177028200-177036400	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr5:177028200-177038000	Weak transcription	Right Atrium	heart
5	chr5:177028400-177036600	Weak transcription	HMEC	breast
6	chr5:177028400-177040200	Weak transcription	Primary hematopoietic stem cells	blood
7	chr5:177028400-177042600	Weak transcription	Primary B cells from cord blood	blood
8	chr5:177028400-177044800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr5:177028400-177045800	Weak transcription	Left Ventricle	heart
10	chr5:177028400-177045800	Weak transcription	Psoas Muscle	Psoas
11	chr5:177028400-177048400	Weak transcription	NH-A	brain
12	chr5:177028600-177041200	Weak transcription	Fetal Lung	lung
13	chr5:177028600-177046400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr5:177028600-177049000	Weak transcription	HUVEC	blood vessel
15	chr5:177028600-177053200	Weak transcription	HSMM	muscle
16	chr5:177028800-177044600	Weak transcription	GM12878-XiMat	blood
17	chr5:177029000-177054200	Weak transcription	Brain Substantia Nigra	brain
18	chr5:177029200-177045600	Weak transcription	Brain Angular Gyrus	brain
19	chr5:177030400-177039400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
20	chr5:177032000-177038800	Strong transcription	Dnd41	blood
21	chr5:177032800-177036400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr5:177032800-177045600	Weak transcription	HSMMtube	muscle
23	chr5:177033000-177045600	Weak transcription	Aorta	Aorta
24	chr5:177033200-177038600	Weak transcription	Monocytes-CD14+_RO01746	blood
25	chr5:177033600-177035400	Enhancers	H1 Cell Line	embryonic stem cell
26	chr5:177033600-177035400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr5:177033600-177035800	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr5:177033600-177035800	Weak transcription	Primary monocytes fromperipheralblood	blood
29	chr5:177033600-177035800	Weak transcription	Primary T cells from cord blood	blood
30	chr5:177033800-177035600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr5:177034000-177035400	Enhancers	iPS-20b Cell Line	embryonic stem cell
32	chr5:177034000-177035400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
33	chr5:177034000-177035800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr5:177034000-177037200	Genic enhancers	Spleen	Spleen
35	chr5:177034200-177035400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr5:177034200-177035600	Genic enhancers	Fetal Muscle Trunk	muscle
37	chr5:177034200-177037000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr5:177034200-177040400	Strong transcription	Thymus	Thymus
39	chr5:177034400-177045600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
40	chr5:177034400-177046200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr5:177034400-177048600	Weak transcription	A549	lung
42	chr5:177034600-177035400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
43	chr5:177034600-177035400	Weak transcription	Lung	lung
44	chr5:177034600-177035600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr5:177034600-177036000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr5:177034600-177036600	Weak transcription	Ovary	ovary
47	chr5:177034600-177036600	Strong transcription	Osteobl	bone
48	chr5:177034600-177037400	Strong transcription	Placenta	Placenta
49	chr5:177034600-177039600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr5:177034600-177044400	Weak transcription	Primary T helper cells fromperipheralblood	blood

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