Variant report

Variant	rs58125572
Chromosome Location	chr7:150948325-150948326
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:20)
CpG islands
(count:61)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:20 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAZ	chr7:150948322-150950503	IMR90	lung:	n/a	n/a
2	MAX	chr7:150948190-150948724	H1-hESC	embryonic stem cell:	n/a	n/a
3	NRF1	chr7:150948267-150949770	SK-N-SH	brain:	n/a	chr7:150949056-150949067 chr7:150949056-150949070
4	MYC	chr7:150948290-150948394	HUVEC	blood vessel:	n/a	n/a
5	MAX	chr7:150948196-150948991	ECC-1	luminal epithelium:	n/a	n/a
6	E2F6	chr7:150948298-150948970	A549	lung:	n/a	n/a
7	REST	chr7:150948097-150950685	H1-neurons	neurons:	n/a	chr7:150948895-150948905 chr7:150950263-150950276 chr7:150949138-150949151
8	EP300	chr7:150948319-150949662	SK-N-SH	brain:	n/a	chr7:150949098-150949114 chr7:150949111-150949127
9	MAX	chr7:150948241-150948969	K562	blood:	n/a	n/a
10	KAP1	chr7:150948269-150948840	HEK293	kidney:	n/a	n/a
11	POLR2A	chr7:150948319-150949824	H1-neurons	neurons:	n/a	n/a
12	MAX	chr7:150948292-150948638	H1-hESC	embryonic stem cell:	n/a	n/a
13	ZNF263	chr7:150948217-150950612	HEK293-T-REx	kidney:	n/a	chr7:150949847-150949856 chr7:150949142-150949151 chr7:150949143-150949164 chr7:150949756-150949765 chr7:150949850-150949859 chr7:150950227-150950236 chr7:150948709-150948718 chr7:150950567-150950576
14	MAX	chr7:150948293-150949284	A549	lung:	n/a	n/a
15	E2F6	chr7:150948189-150948709	H1-hESC	embryonic stem cell:	n/a	n/a
16	MAX	chr7:150948204-150949107	ECC-1	luminal epithelium:	n/a	n/a
17	MAX	chr7:150948159-150949443	A549	lung:	n/a	n/a
18	MAX	chr7:150948277-150949683	SK-N-SH	brain:	n/a	n/a
19	MAX	chr7:150948295-150949659	SK-N-SH	brain:	n/a	n/a
20	MAX	chr7:150948217-150948674	H1-hESC	embryonic stem cell:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:150948324-150948374	SKMC	muscle:	n/a
2	chr7:150948324-150948374	HNPCEpiC	eye:	n/a
3	chr7:150948324-150948374	AoSMC	blood vessel:	n/a
4	chr7:150948324-150948374	ovcar-3	ovarian:	n/a
5	chr7:150948324-150948374	PANC-1	pancreas:	n/a
6	chr7:150948324-150948374	CMK	blood:	n/a
7	chr7:150948324-150948374	HRE	kidney:	n/a
8	chr7:150948324-150948374	NH-A	brain:	n/a
9	chr7:150948324-150948374	U87	brain:	n/a
10	chr7:150948324-150948374	AG04449	skin:	fetal
11	chr7:150948324-150948374	HRPEpiC	eye:	n/a
12	chr7:150948324-150948374	HCT-116	colon:	n/a
13	chr7:150948324-150948374	SAEC	small airway:	n/a
14	chr7:150948324-150948374	Hepatocyte	liver:	n/a
15	chr7:150948324-150948374	GM19239	blood:	n/a
16	chr7:150948324-150948374	T-47D	breast:	n/a
17	chr7:150948324-150948374	SK-N-MC	brain:	n/a
18	chr7:150948324-150948374	AG10803	skin:	n/a
19	chr7:150948324-150948374	GM12891	blood:	n/a
20	chr7:150948324-150948374	Caco-2	colon:	n/a
21	chr7:150948324-150948374	GM06990	blood:	n/a
22	chr7:150948324-150948374	AG09309	skin:	n/a
23	chr7:150948324-150948374	HL-60	blood:	n/a
24	chr7:150948324-150948374	NHDF-neo	bronchial:	n/a
25	chr7:150948324-150948374	AG04450	lung:	fetal
26	chr7:150948324-150948374	HCPEpiC	choroid plexus:	n/a
27	chr7:150948324-150948374	H1-hESC	embryonic stem cell:	embryo
28	chr7:150948324-150948374	ECC-1	luminal epithelium:	n/a
29	chr7:150948324-150948374	PFSK-1	brain:	n/a
30	chr7:150948324-150948374	HMEC	breast:	n/a
31	chr7:150948324-150948374	AG09319	gingival:	n/a
32	chr7:150948324-150948374	HCF	heart:	n/a
33	chr7:150948324-150948374	SK-N-SH	brain:	n/a
34	chr7:150948324-150948374	HepG2	liver:	n/a
35	chr7:150948324-150948374	HEEpiC	esophagus:	n/a
36	chr7:150948324-150948374	IMR90	lung:	fetal
37	chr7:150948324-150948374	A549	lung:	n/a
38	chr7:150948324-150948374	GM12892	blood:	n/a
39	chr7:150948324-150948374	GM12878	blood:	n/a
40	chr7:150948324-150948374	SK-N-SH_RA	brain:	n/a
41	chr7:150948324-150948374	PrEC	prostate:	n/a
42	chr7:150948324-150948374	HCM	heart:	n/a
43	chr7:150948324-150948374	ProgFib	skin:	n/a
44	chr7:150948324-150948374	NB4	blood:	n/a
45	chr7:150948324-150948374	LNCaP	prostate:	n/a
46	chr7:150948324-150948374	BJ	skin:	n/a
47	chr7:150948324-150948374	K562	blood:	n/a
48	chr7:150948324-150948374	HEK293	kidney:	embryo
49	chr7:150948324-150948374	BE2_C	brain:	n/a
50	chr7:150948324-150948374	RPTEC	kidney:	n/a

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:150938276..150940538-chr7:150946762..150948405,2	MCF-7	breast:
2	chr7:150928662..150932139-chr7:150946772..150952684,6	MCF-7	breast:
3	chr7:150705057..150707030-chr7:150948019..150950739,2	K562	blood:
4	chr7:150863343..150865061-chr7:150947610..150949922,2	MCF-7	breast:

No data

Variant related genes	Relation type
SMARCD3	TF binding region
SMARCD3	CpG island
ENSG00000082014	Chromatin interaction
ENSG00000033100	Chromatin interaction
ENSG00000164867	Chromatin interaction
ENSG00000164900	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs12668799	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs219230	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2530458	1.00[ASN][1000 genomes]
rs2530459	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3789823	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4236429	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4236430	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4472433	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6958591	0.88[ASN][1000 genomes]
rs7786030	0.88[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	esv1821419	chr7:150593315-150974269	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	128 gene(s)	inside rSNPs	diseases
2	nsv889476	chr7:150729212-150951819	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	120 gene(s)	inside rSNPs	diseases
3	nsv609035	chr7:150896223-150955765	Bivalent Enhancer Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
4	nsv889487	chr7:150922952-150988172	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	73 gene(s)	inside rSNPs	diseases
5	nsv889488	chr7:150926775-150955765	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	66 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150946000-150948800	Flanking Active TSS	Stomach Smooth Muscle	stomach
2	chr7:150946200-150948400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
3	chr7:150946200-150948600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
4	chr7:150946400-150948400	Flanking Active TSS	Fetal Brain Female	brain
5	chr7:150946400-150948600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr7:150946400-150948800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
7	chr7:150946600-150948400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr7:150946600-150948400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr7:150946600-150948400	Enhancers	Brain Substantia Nigra	brain
10	chr7:150946600-150948400	Enhancers	Esophagus	oesophagus
11	chr7:150946600-150948400	Enhancers	Lung	lung
12	chr7:150946600-150948400	Weak transcription	HUVEC	blood vessel
13	chr7:150946600-150948400	Enhancers	NH-A	brain
14	chr7:150946600-150948600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr7:150946600-150948600	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr7:150946600-150948600	Enhancers	Gastric	stomach
17	chr7:150946600-150948600	Enhancers	Spleen	Spleen
18	chr7:150946600-150949200	Bivalent Enhancer	Fetal Thymus	thymus
19	chr7:150946800-150948400	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
20	chr7:150946800-150948400	Bivalent Enhancer	H9 Cell Line	embryonic stem cell
21	chr7:150946800-150948400	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
22	chr7:150946800-150948400	Enhancers	A549	lung
23	chr7:150946800-150948400	Weak transcription	HMEC	breast
24	chr7:150946800-150948600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr7:150947000-150948400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr7:150947000-150948400	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
27	chr7:150947000-150948400	Weak transcription	Aorta	Aorta
28	chr7:150947000-150948400	Enhancers	Brain Cingulate Gyrus	brain
29	chr7:150947000-150948400	Bivalent Enhancer	Fetal Intestine Large	intestine
30	chr7:150947000-150948400	Enhancers	Placenta Amnion	Placenta Amnion
31	chr7:150947000-150948400	Enhancers	Psoas Muscle	Psoas
32	chr7:150947000-150948400	Bivalent Enhancer	HepG2	liver
33	chr7:150947000-150948600	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr7:150947000-150948600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr7:150947000-150949400	Bivalent Enhancer	Stomach Mucosa	stomach
36	chr7:150947200-150948400	Bivalent Enhancer	Fetal Intestine Small	intestine
37	chr7:150947200-150948400	Enhancers	Pancreas	Pancrea
38	chr7:150947200-150948400	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
39	chr7:150947400-150948400	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
40	chr7:150947400-150948400	Enhancers	Osteobl	bone
41	chr7:150947400-150948600	Flanking Active TSS	Fetal Brain Male	brain
42	chr7:150947600-150948400	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr7:150947600-150948600	Flanking Active TSS	Fetal Kidney	kidney
44	chr7:150947800-150948600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr7:150947800-150948600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr7:150947800-150948600	Flanking Active TSS	Brain Angular Gyrus	brain
47	chr7:150947800-150948600	Flanking Active TSS	Brain Hippocampus Middle	brain
48	chr7:150947800-150948600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
49	chr7:150947800-150948600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
50	chr7:150947800-150948600	Flanking Active TSS	Fetal Heart	heart

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