Variant report

Variant	rs35414455
Chromosome Location	chr7:71802687-71802688
allele	C/T
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	SIN3A	chr7:71800537-71803140	H1-hESC	embryonic stem cell:	n/a	chr7:71802203-71802216
2	REST	chr7:71801280-71802828	H1-neurons	neurons:	n/a	chr7:71801568-71801588 chr7:71801457-71801467 chr7:71801572-71801585 chr7:71801388-71801401 chr7:71801572-71801585 chr7:71801769-71801782 chr7:71801568-71801588
3	MAX	chr7:71800471-71803177	H1-hESC	embryonic stem cell:	n/a	chr7:71800761-71800772 chr7:71800763-71800770 chr7:71800762-71800771 chr7:71801185-71801195 chr7:71801766-71801776 chr7:71801426-71801435 chr7:71800762-71800771 chr7:71800762-71800772
4	YY1	chr7:71801925-71802813	H1-hESC	embryonic stem cell:	n/a	chr7:71802734-71802745 chr7:71802575-71802584
5	POLR2A	chr7:71801882-71802726	SK-N-MC	brain:	n/a	n/a
6	POLR2A	chr7:71800437-71803094	H1-hESC	embryonic stem cell:	n/a	n/a
7	RAD21	chr7:71801541-71802831	H1-hESC	embryonic stem cell:	n/a	chr7:71802090-71802103
8	E2F6	chr7:71800207-71803092	H1-hESC	embryonic stem cell:	n/a	chr7:71800607-71800617 chr7:71802575-71802584 chr7:71801089-71801099 chr7:71801672-71801682 chr7:71800687-71800694 chr7:71801479-71801488 chr7:71801865-71801875
9	BACH1	chr7:71801868-71802965	H1-hESC	embryonic stem cell:	n/a	n/a
10	MAX	chr7:71800525-71803233	H1-hESC	embryonic stem cell:	n/a	chr7:71800761-71800772 chr7:71800763-71800770 chr7:71800762-71800771 chr7:71801185-71801195 chr7:71801766-71801776 chr7:71801426-71801435 chr7:71800762-71800771 chr7:71800762-71800772
11	ZNF263	chr7:71801396-71802918	HEK293-T-REx	kidney:	n/a	chr7:71802161-71802182 chr7:71802172-71802181 chr7:71802161-71802170

Variant related genes	Relation type
CALN1	TF binding region

Extended variants
information (count: 26 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12665891	0.85[ASN][1000 genomes]
rs13240963	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13307517	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17674025	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59032605	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs60413052	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62459273	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7786833	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7799416	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9638652	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531372	chr7:71300090-71909517	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
2	nsv491610	chr7:71422560-71803630	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	nsv817506	chr7:71488542-71935721	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv1034282	chr7:71531113-71876617	Flanking Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv529620	chr7:71604785-71935721	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv492243	chr7:71648955-71935721	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv1019700	chr7:71677836-71844973	Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	nsv538943	chr7:71677836-71844973	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	nsv607460	chr7:71713735-71817899	Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	nsv470299	chr7:71740458-71815170	Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	nsv464556	chr7:71740458-71817899	Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	nsv464557	chr7:71744896-71935721	Enhancers ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	nsv607461	chr7:71744896-71935721	Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
14	nsv1029656	chr7:71745055-71935721	Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
15	nsv428170	chr7:71783434-71917539	Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
16	esv3439607	chr7:71800441-71802989	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:71799600-71802800	Bivalent/Poised TSS	Fetal Brain Female	brain
2	chr7:71799800-71803000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
3	chr7:71799800-71803000	Bivalent/Poised TSS	Brain Germinal Matrix	brain
4	chr7:71800400-71802800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr7:71800400-71803200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
6	chr7:71800600-71802800	Active TSS	H9 Cell Line	embryonic stem cell
7	chr7:71800600-71802800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
8	chr7:71800600-71802800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
9	chr7:71800600-71803200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
10	chr7:71800800-71802800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr7:71800800-71803000	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr7:71801000-71802800	Active TSS	Pancreatic Islets	Pancreatic Islet
13	chr7:71801000-71803000	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
14	chr7:71801600-71802800	Active TSS	Thymus	Thymus
15	chr7:71801600-71803000	Flanking Active TSS	Pancreas	Pancrea
16	chr7:71801800-71802800	Enhancers	Gastric	stomach
17	chr7:71801800-71803000	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr7:71802000-71802800	Bivalent Enhancer	Fetal Brain Male	brain
19	chr7:71802000-71803400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr7:71802200-71802800	Bivalent Enhancer	Fetal Stomach	stomach
21	chr7:71802200-71803000	Flanking Active TSS	Primary hematopoietic stem cells	blood
22	chr7:71802200-71803000	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
23	chr7:71802200-71803000	Bivalent Enhancer	Fetal Heart	heart
24	chr7:71802400-71802800	Flanking Bivalent TSS/Enh	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr7:71802400-71802800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
26	chr7:71802400-71802800	Flanking Bivalent TSS/Enh	Brain Anterior Caudate	brain
27	chr7:71802400-71803000	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
28	chr7:71802400-71803000	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
29	chr7:71802400-71803000	Bivalent Enhancer	Esophagus	oesophagus
30	chr7:71802400-71803400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr7:71802400-71803400	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
32	chr7:71802600-71802800	Flanking Bivalent TSS/Enh	ES-WA7 Cell Line	embryonic stem cell
33	chr7:71802600-71802800	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr7:71802600-71802800	Flanking Bivalent TSS/Enh	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr7:71802600-71802800	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr7:71802600-71802800	Flanking Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr7:71802600-71802800	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
38	chr7:71802600-71802800	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
39	chr7:71802600-71802800	Flanking Active TSS	Brain Substantia Nigra	brain
40	chr7:71802600-71802800	Bivalent Enhancer	Right Atrium	heart
41	chr7:71802600-71802800	Bivalent Enhancer	Right Ventricle	heart
42	chr7:71802600-71802800	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
43	chr7:71802600-71803000	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
44	chr7:71802600-71803000	Flanking Active TSS	Brain Angular Gyrus	brain
45	chr7:71802600-71803000	Flanking Bivalent TSS/Enh	Brain Dorsolateral Prefrontal Cortex	brain
46	chr7:71802600-71803000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
47	chr7:71802600-71803000	Bivalent Enhancer	Lung	lung
48	chr7:71802600-71803200	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
49	chr7:71802600-71803200	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
50	chr7:71802600-71803200	Bivalent Enhancer	Fetal Muscle Leg	muscle

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