Variant report

Variant	rs11537644
Chromosome Location	chr5:177031348-177031349
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:17)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:17 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RFX5	chr5:177031049-177031358	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr5:177031072-177031393	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr5:177030786-177031504	Hela-S3	cervix:	n/a	n/a
4	CHD2	chr5:177031049-177031608	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr5:177030685-177031935	Hela-S3	cervix:	n/a	n/a
6	SMC3	chr5:177030916-177031363	Hela-S3	cervix:	n/a	n/a
7	MAX	chr5:177030949-177031430	Hela-S3	cervix:	n/a	chr5:177031143-177031153
8	MAX	chr5:177030562-177031998	HCT-116	colon:	n/a	chr5:177031553-177031563 chr5:177031549-177031559 chr5:177031143-177031153
9	POLR2A	chr5:177030902-177031883	HCT-116	colon:	n/a	n/a
10	POLR2A	chr5:177031023-177031358	HepG2	liver:	n/a	n/a
11	MAZ	chr5:177030952-177031739	Hela-S3	cervix:	n/a	chr5:177031553-177031563 chr5:177031549-177031559 chr5:177031143-177031153
12	MAX	chr5:177030775-177031827	HCT-116	colon:	n/a	chr5:177031553-177031563 chr5:177031549-177031559 chr5:177031143-177031153
13	YY1	chr5:177031023-177031499	HCT-116	colon:	n/a	chr5:177031136-177031147
14	RCOR1	chr5:177031058-177031437	Hela-S3	cervix:	n/a	n/a
15	HCFC1	chr5:177030490-177031569	Hela-S3	cervix:	n/a	n/a
16	NR2C2	chr5:177030965-177031382	Hela-S3	cervix:	n/a	n/a
17	POLR2A	chr5:177030838-177031784	HCT-116	colon:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:177031304-177031354	HAEpiC	amniotic membrane:	n/a
2	chr5:177031304-177031354	HMEC	breast:	n/a
3	chr5:177031304-177031354	HEEpiC	esophagus:	n/a
4	chr5:177031304-177031354	Hela-S3	cervix:	n/a
5	chr5:177031304-177031354	GM12892	blood:	n/a
6	chr5:177031304-177031354	NH-A	brain:	n/a
7	chr5:177031304-177031354	T-47D	breast:	n/a
8	chr5:177031304-177031354	GM12878	blood:	n/a
9	chr5:177031304-177031354	ECC-1	luminal epithelium:	n/a
10	chr5:177031304-177031354	PANC-1	pancreas:	n/a
11	chr5:177031304-177031354	AG04449	skin:	fetal
12	chr5:177031304-177031354	GM06990	blood:	n/a
13	chr5:177031304-177031354	HUVEC	blood vessel:	n/a
14	chr5:177031304-177031354	MCF-7	breast:	n/a
15	chr5:177031304-177031354	PrEC	prostate:	n/a
16	chr5:177031304-177031354	AoSMC	blood vessel:	n/a
17	chr5:177031304-177031354	NHDF-neo	bronchial:	n/a
18	chr5:177031304-177031354	HepG2	liver:	n/a
19	chr5:177031304-177031354	A549	lung:	n/a
20	chr5:177031304-177031354	Jurkat	blood:	n/a
21	chr5:177031304-177031354	LNCaP	prostate:	n/a
22	chr5:177031304-177031354	BJ	skin:	n/a
23	chr5:177031304-177031354	HIPEpiC	eye:	n/a
24	chr5:177031304-177031354	GM19239	blood:	n/a
25	chr5:177031304-177031354	HCPEpiC	choroid plexus:	n/a
26	chr5:177031304-177031354	BE2_C	brain:	n/a
27	chr5:177031304-177031354	HRE	kidney:	n/a
28	chr5:177031304-177031354	AG09319	gingival:	n/a
29	chr5:177031304-177031354	NB4	blood:	n/a
30	chr5:177031304-177031354	RPTEC	kidney:	n/a
31	chr5:177031304-177031354	MCF10A-Er-Src	breast:	n/a
32	chr5:177031304-177031354	HEK293	kidney:	embryo
33	chr5:177031304-177031354	SK-N-MC	brain:	n/a
34	chr5:177031304-177031354	IMR90	lung:	fetal
35	chr5:177031304-177031354	HCM	heart:	n/a
36	chr5:177031304-177031354	ovcar-3	ovarian:	n/a
37	chr5:177031304-177031354	ProgFib	skin:	n/a
38	chr5:177031304-177031354	PFSK-1	brain:	n/a
39	chr5:177031304-177031354	U87	brain:	n/a
40	chr5:177031304-177031354	AG04450	lung:	fetal
41	chr5:177031304-177031354	HL-60	blood:	n/a
42	chr5:177031304-177031354	GM12891	blood:	n/a
43	chr5:177031304-177031354	AG09309	skin:	n/a
44	chr5:177031304-177031354	SK-N-SH_RA	brain:	n/a
45	chr5:177031304-177031354	NT2-D1	testis:	n/a
46	chr5:177031304-177031354	HCT-116	colon:	n/a
47	chr5:177031304-177031354	Caco-2	colon:	n/a
48	chr5:177031304-177031354	NHBE	bronchial:	n/a
49	chr5:177031304-177031354	HPAEpiC	pulmonary alveolar:	n/a
50	chr5:177031304-177031354	HCF	heart:	n/a

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

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

No data

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

Extended variants
information (count: 28 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs12515264	0.82[ASN][1000 genomes]
rs12515554	0.84[ASN][1000 genomes]
rs13169820	0.84[ASN][1000 genomes]
rs13175194	0.84[ASN][1000 genomes]
rs13175367	0.84[ASN][1000 genomes]
rs189243	0.94[ASN][1000 genomes]
rs28499263	0.93[ASN][1000 genomes]
rs28587776	0.98[ASN][1000 genomes]
rs28693973	0.94[ASN][1000 genomes]
rs28712028	0.90[ASN][1000 genomes]
rs2878523	0.89[ASN][1000 genomes]
rs335485	0.88[ASN][1000 genomes]
rs337341	0.94[ASN][1000 genomes]
rs337362	0.94[ASN][1000 genomes]
rs34457379	0.82[ASN][1000 genomes]
rs34582406	0.96[ASN][1000 genomes]
rs34708092	0.84[ASN][1000 genomes]
rs36092039	0.84[ASN][1000 genomes]
rs364970	0.94[ASN][1000 genomes]
rs366470	0.91[ASN][1000 genomes]
rs461163	0.94[ASN][1000 genomes]
rs461259	0.86[ASN][1000 genomes]
rs834549	0.94[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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11537644	FAM153C	cis	Esophagus Muscularis	GTEx
rs11537644	B4GALT7	cis	Whole Blood	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	chr5:177028400-177031600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr5:177028400-177031800	Weak transcription	Primary T cells from cord blood	blood
14	chr5:177028400-177031800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr5:177028400-177032000	Weak transcription	Lung	lung
16	chr5:177028400-177032000	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr5:177028400-177032200	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr5:177028400-177034000	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr5:177028400-177034000	Weak transcription	A549	lung
20	chr5:177028400-177034200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr5:177028400-177034200	Weak transcription	Rectal Smooth Muscle	rectum
22	chr5:177028400-177034800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr5:177028400-177036600	Weak transcription	HMEC	breast
24	chr5:177028400-177040200	Weak transcription	Primary hematopoietic stem cells	blood
25	chr5:177028400-177042600	Weak transcription	Primary B cells from cord blood	blood
26	chr5:177028400-177044800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr5:177028400-177045800	Weak transcription	Left Ventricle	heart
28	chr5:177028400-177045800	Weak transcription	Psoas Muscle	Psoas
29	chr5:177028400-177048400	Weak transcription	NH-A	brain
30	chr5:177028600-177031400	Weak transcription	Primary monocytes fromperipheralblood	blood
31	chr5:177028600-177031400	Weak transcription	Fetal Muscle Leg	muscle
32	chr5:177028600-177031800	Weak transcription	NHLF	lung
33	chr5:177028600-177032000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr5:177028600-177032200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr5:177028600-177032600	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr5:177028600-177033200	Weak transcription	Osteobl	bone
37	chr5:177028600-177034000	Weak transcription	Primary B cells from peripheral blood	blood
38	chr5:177028600-177034000	Weak transcription	Colon Smooth Muscle	Colon
39	chr5:177028600-177034200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr5:177028600-177034200	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr5:177028600-177034400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr5:177028600-177034400	Weak transcription	Fetal Thymus	thymus
43	chr5:177028600-177034600	Weak transcription	Fetal Kidney	kidney
44	chr5:177028600-177034800	Weak transcription	NHEK	skin
45	chr5:177028600-177041200	Weak transcription	Fetal Lung	lung
46	chr5:177028600-177046400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
47	chr5:177028600-177049000	Weak transcription	HUVEC	blood vessel
48	chr5:177028600-177053200	Weak transcription	HSMM	muscle
49	chr5:177028800-177031400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr5:177028800-177031600	Weak transcription	Rectal Mucosa Donor 29	rectum

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