Variant report

Variant	rs740566
Chromosome Location	chr7:15727202-15727203
allele	A/G
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	CTCF	chr7:15727120-15727270	NHLF	lung:	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	BACH1	chr7:15727089-15727614	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr7:15726965-15728068	H1-neurons	neurons:	n/a	n/a
6	SUZ12	chr7:15724111-15727909	NT2-D1	testis:	n/a	n/a
7	CTCF	chr7:15727100-15727250	HPF	lung:	n/a	n/a
8	POLR2A	chr7:15726855-15728279	H1-neurons	neurons:	n/a	n/a
9	CTCF	chr7:15727160-15727310	BE2_C	brain:	n/a	n/a
10	CTBP2	chr7:15725165-15727652	H1-hESC	embryonic stem cell:	n/a	n/a
11	E2F6	chr7:15724928-15727574	H1-hESC	embryonic stem cell:	n/a	chr7:15725496-15725510 chr7:15726762-15726769
12	E2F6	chr7:15725126-15727619	H1-hESC	embryonic stem cell:	n/a	chr7:15725496-15725510 chr7:15726762-15726769
13	MAX	chr7:15725864-15727273	H1-hESC	embryonic stem cell:	n/a	chr7:15726423-15726432 chr7:15726648-15726656
14	MAX	chr7:15726214-15727244	H1-hESC	embryonic stem cell:	n/a	chr7:15726423-15726432 chr7:15726648-15726656

Variant related genes	Relation type
MEOX2	TF binding region
ENSG00000229108	TF binding region

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10249022	0.82[EUR][1000 genomes]
rs10253122	0.81[EUR][1000 genomes]
rs10278681	0.82[EUR][1000 genomes]
rs10278701	0.82[EUR][1000 genomes]
rs10282685	0.82[EUR][1000 genomes]
rs10486772	0.84[YRI][hapmap]
rs1050290	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]
rs11764932	0.88[CEU][hapmap];0.89[CHB][hapmap];0.91[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11773055	0.91[TSI][hapmap]
rs11975534	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12665902	0.80[EUR][1000 genomes]
rs2159221	0.81[EUR][1000 genomes]
rs35384769	0.80[EUR][1000 genomes]
rs3807879	0.88[CEU][hapmap];0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4721453	0.86[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];0.80[AFR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs55782647	0.80[EUR][1000 genomes]
rs56217404	0.84[EUR][1000 genomes]
rs740567	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs917441	0.83[CEU][hapmap];0.89[CHB][hapmap];0.97[CHD][hapmap];0.82[GIH][hapmap];0.92[JPT][hapmap];0.93[TSI][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[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:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:15719000-15728600	Active TSS	NHDF-Ad	bronchial
2	chr7:15720000-15729800	Active TSS	Right Atrium	heart
3	chr7:15722400-15728400	Bivalent/Poised TSS	Fetal Lung	lung
4	chr7:15723800-15728200	Bivalent/Poised TSS	Left Ventricle	heart
5	chr7:15723800-15728200	Active TSS	Ovary	ovary
6	chr7:15723800-15728600	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
7	chr7:15724600-15727600	Active TSS	Aorta	Aorta
8	chr7:15724600-15728200	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
9	chr7:15724800-15728200	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
10	chr7:15725000-15727400	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
11	chr7:15725000-15727800	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
12	chr7:15725000-15728200	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
13	chr7:15725200-15728200	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
14	chr7:15725400-15727400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr7:15725400-15727800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
16	chr7:15725600-15727800	Bivalent/Poised TSS	Brain Angular Gyrus	brain
17	chr7:15725600-15728000	Bivalent/Poised TSS	NHLF	lung
18	chr7:15725800-15727600	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
19	chr7:15725800-15728000	Bivalent/Poised TSS	Psoas Muscle	Psoas
20	chr7:15725800-15728400	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr7:15726000-15727600	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
22	chr7:15726000-15727800	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
23	chr7:15726000-15728600	Flanking Active TSS	HUVEC	blood vessel
24	chr7:15726200-15727800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr7:15726200-15728600	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
26	chr7:15726400-15727400	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
27	chr7:15726400-15728400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
28	chr7:15726400-15728800	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
29	chr7:15726600-15727400	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr7:15726600-15727400	Bivalent Enhancer	Fetal Heart	heart
31	chr7:15726600-15727600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr7:15726600-15727600	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr7:15726600-15727600	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
34	chr7:15726600-15727600	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr7:15726600-15727600	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
36	chr7:15726600-15729600	Active TSS	Right Ventricle	heart
37	chr7:15726800-15727400	Flanking Bivalent TSS/Enh	Fetal Brain Male	brain
38	chr7:15726800-15727600	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
39	chr7:15726800-15727600	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
40	chr7:15726800-15727800	Bivalent/Poised TSS	Colonic Mucosa	Colon
41	chr7:15726800-15728000	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
42	chr7:15726800-15728400	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
43	chr7:15726800-15728800	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
44	chr7:15726800-15728800	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
45	chr7:15726800-15729000	Bivalent/Poised TSS	Adipose Nuclei	Adipose
46	chr7:15727000-15727400	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
47	chr7:15727000-15727400	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr7:15727000-15727400	Bivalent/Poised TSS	Brain Anterior Caudate	brain
49	chr7:15727000-15727400	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
50	chr7:15727000-15727400	Flanking Bivalent TSS/Enh	Brain Substantia Nigra	brain

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