Variant report

Variant	rs1050290
Chromosome Location	chr7:15726066-15726067
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:0)
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	POLR2A	chr7:15725770-15727070	HUVEC	blood vessel:	n/a	n/a
2	POLR2A	chr7:15725676-15727219	ProgFib	skin:	n/a	n/a
3	MAX	chr7:15725015-15727240	H1-hESC	embryonic stem cell:	n/a	chr7:15726423-15726432 chr7:15726648-15726656 chr7:15725326-15725339 chr7:15725328-15725335 chr7:15725180-15725190
4	POLR2A	chr7:15725919-15726739	HUVEC	blood vessel:	n/a	n/a
5	SUZ12	chr7:15724111-15727909	NT2-D1	testis:	n/a	n/a
6	MAX	chr7:15725859-15727090	HUVEC	blood vessel:	n/a	chr7:15726423-15726432 chr7:15726648-15726656
7	KAP1	chr7:15724606-15726663	HEK293	kidney:	n/a	n/a
8	CTBP2	chr7:15725165-15727652	H1-hESC	embryonic stem cell:	n/a	n/a
9	E2F6	chr7:15724928-15727574	H1-hESC	embryonic stem cell:	n/a	chr7:15725496-15725510 chr7:15726762-15726769
10	E2F6	chr7:15725126-15727619	H1-hESC	embryonic stem cell:	n/a	chr7:15725496-15725510 chr7:15726762-15726769
11	POLR2A	chr7:15726054-15726689	HUVEC	blood vessel:	n/a	n/a
12	MAX	chr7:15725864-15727273	H1-hESC	embryonic stem cell:	n/a	chr7:15726423-15726432 chr7:15726648-15726656
13	SUZ12	chr7:15725147-15727185	H1-hESC	embryonic stem cell:	n/a	n/a
14	NRF1	chr7:15726012-15726128	H1-hESC	embryonic stem cell:	n/a	n/a
15	SIN3A	chr7:15726029-15727060	H1-hESC	embryonic stem cell:	n/a	n/a
16	BACH1	chr7:15725890-15726236	H1-hESC	embryonic stem cell:	n/a	n/a
17	TBP	chr7:15726017-15726327	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	chr7:15726064-15726114	Caco-2	colon:	n/a
2	chr7:15726064-15726114	U87	brain:	n/a
3	chr7:15726064-15726114	BJ	skin:	n/a
4	chr7:15726064-15726114	CMK	blood:	n/a
5	chr7:15726064-15726114	MCF-7	breast:	n/a
6	chr7:15726064-15726114	GM12892	blood:	n/a
7	chr7:15726064-15726114	HRPEpiC	eye:	n/a
8	chr7:15726064-15726114	ovcar-3	ovarian:	n/a
9	chr7:15726064-15726114	BE2_C	brain:	n/a
10	chr7:15726064-15726114	HIPEpiC	eye:	n/a
11	chr7:15726064-15726114	SK-N-SH	brain:	n/a
12	chr7:15726064-15726114	H1-hESC	embryonic stem cell:	embryo
13	chr7:15726064-15726114	NT2-D1	testis:	n/a
14	chr7:15726064-15726114	PrEC	prostate:	n/a
15	chr7:15726064-15726114	NB4	blood:	n/a
16	chr7:15726064-15726114	HMEC	breast:	n/a
17	chr7:15726064-15726114	IMR90	lung:	fetal
18	chr7:15726064-15726114	HCF	heart:	n/a
19	chr7:15726064-15726114	HCT-116	colon:	n/a
20	chr7:15726064-15726114	SK-N-MC	brain:	n/a
21	chr7:15726064-15726114	MCF10A-Er-Src	breast:	n/a
22	chr7:15726064-15726114	K562	blood:	n/a
23	chr7:15726064-15726114	Jurkat	blood:	n/a
24	chr7:15726064-15726114	PANC-1	pancreas:	n/a
25	chr7:15726064-15726114	SAEC	small airway:	n/a
26	chr7:15726064-15726114	AoSMC	blood vessel:	n/a
27	chr7:15726064-15726114	HAEpiC	amniotic membrane:	n/a
28	chr7:15726064-15726114	AG09309	skin:	n/a
29	chr7:15726064-15726114	PFSK-1	brain:	n/a
30	chr7:15726064-15726114	NH-A	brain:	n/a
31	chr7:15726064-15726114	ProgFib	skin:	n/a
32	chr7:15726064-15726114	HNPCEpiC	eye:	n/a
33	chr7:15726064-15726114	T-47D	breast:	n/a
34	chr7:15726064-15726114	HRCEpiC	kidney:	n/a
35	chr7:15726064-15726114	HPAEpiC	pulmonary alveolar:	n/a
36	chr7:15726064-15726114	LNCaP	prostate:	n/a
37	chr7:15726064-15726114	GM12891	blood:	n/a
38	chr7:15726064-15726114	HEEpiC	esophagus:	n/a
39	chr7:15726064-15726114	ECC-1	luminal epithelium:	n/a
40	chr7:15726064-15726114	HEK293	kidney:	embryo
41	chr7:15726064-15726114	AG10803	skin:	n/a
42	chr7:15726064-15726114	GM19239	blood:	n/a
43	chr7:15726064-15726114	AG04449	skin:	fetal
44	chr7:15726064-15726114	HUVEC	blood vessel:	n/a
45	chr7:15726064-15726114	A549	lung:	n/a
46	chr7:15726064-15726114	Hepatocyte	liver:	n/a
47	chr7:15726064-15726114	NHDF-neo	bronchial:	n/a
48	chr7:15726064-15726114	GM12878	blood:	n/a
49	chr7:15726064-15726114	GM06990	blood:	n/a
50	chr7:15726064-15726114	HCPEpiC	choroid plexus:	n/a

No data

Variant related genes	Relation type
ENSG00000229108	TF binding region
ENSG00000229108	CpG island

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

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10486772	0.92[LWK][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs11764932	0.89[CHD][hapmap];0.92[JPT][hapmap];0.84[ASN][1000 genomes]
rs11773055	0.84[TSI][hapmap]
rs11975534	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3807879	0.84[CEU][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4721453	0.82[CEU][hapmap];0.92[JPT][hapmap];0.85[ASN][1000 genomes]
rs740566	0.87[CEU][hapmap];0.84[CHB][hapmap];0.97[CHD][hapmap];0.82[GIH][hapmap];0.92[JPT][hapmap];0.89[MEX][hapmap];0.94[MKK][hapmap];0.93[TSI][hapmap];0.84[YRI][hapmap];0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs740567	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs917441	0.87[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[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	nsv932168	chr7:15573437-15895294	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv523199	chr7:15582208-16042596	Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	nsv830911	chr7:15666307-15817662	Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv428501	chr7:15666307-15817662	Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv887736	chr7:15716973-15752122	Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv887737	chr7:15716973-15753487	Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:15718600-15726200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr7:15719000-15728600	Active TSS	NHDF-Ad	bronchial
3	chr7:15720000-15729800	Active TSS	Right Atrium	heart
4	chr7:15721600-15726600	Active TSS	Osteobl	bone
5	chr7:15722400-15728400	Bivalent/Poised TSS	Fetal Lung	lung
6	chr7:15723800-15726200	Active TSS	Right Ventricle	heart
7	chr7:15723800-15726400	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
8	chr7:15723800-15728200	Bivalent/Poised TSS	Left Ventricle	heart
9	chr7:15723800-15728200	Active TSS	Ovary	ovary
10	chr7:15723800-15728600	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
11	chr7:15724600-15726200	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
12	chr7:15724600-15726200	Active TSS	Brain Substantia Nigra	brain
13	chr7:15724600-15726400	Bivalent/Poised TSS	Fetal Kidney	kidney
14	chr7:15724600-15726600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
15	chr7:15724600-15727600	Active TSS	Aorta	Aorta
16	chr7:15724600-15728200	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
17	chr7:15724800-15726600	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
18	chr7:15724800-15726600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
19	chr7:15724800-15727000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
20	chr7:15724800-15728200	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
21	chr7:15725000-15726200	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr7:15725000-15726200	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr7:15725000-15726200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
24	chr7:15725000-15726400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
25	chr7:15725000-15726400	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr7:15725000-15726800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr7:15725000-15726800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr7:15725000-15727000	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr7:15725000-15727000	Flanking Bivalent TSS/Enh	Muscle Satellite Cultured Cells	--
30	chr7:15725000-15727000	Flanking Bivalent TSS/Enh	Brain Inferior Temporal Lobe	brain
31	chr7:15725000-15727000	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
32	chr7:15725000-15727000	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
33	chr7:15725000-15727200	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr7:15725000-15727200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr7:15725000-15727400	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
36	chr7:15725000-15727800	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
37	chr7:15725000-15728200	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
38	chr7:15725200-15726200	Flanking Bivalent TSS/Enh	Placenta	Placenta
39	chr7:15725200-15726400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr7:15725200-15726600	Flanking Active TSS	Liver	Liver
41	chr7:15725200-15726800	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
42	chr7:15725200-15726800	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
43	chr7:15725200-15726800	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
44	chr7:15725200-15726800	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
45	chr7:15725200-15727000	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
46	chr7:15725200-15728200	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
47	chr7:15725400-15726200	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr7:15725400-15726200	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
49	chr7:15725400-15727200	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr7:15725400-15727400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin

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