Variant report

Variant	rs10275627
Chromosome Location	chr7:150038678-150038679
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	POLR2A	chr7:150038488-150039199	HepG2	liver:	n/a	n/a
2	BRCA1	chr7:150038667-150038792	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr7:150038100-150039225	HepG2	liver:	n/a	n/a
4	TAF1	chr7:150038513-150038789	H1-hESC	embryonic stem cell:	n/a	n/a
5	TBP	chr7:150038634-150038719	HepG2	liver:	n/a	n/a
6	CHD2	chr7:150038587-150038888	HepG2	liver:	n/a	n/a
7	NRF1	chr7:150038603-150038740	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr7:150038503-150038815	HepG2	liver:	n/a	n/a
9	TAF1	chr7:150038507-150038759	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr7:150038505-150038753	H1-hESC	embryonic stem cell:	n/a	n/a
11	E2F6	chr7:150038442-150039477	H1-hESC	embryonic stem cell:	n/a	chr7:150038926-150038936 chr7:150038852-150038867 chr7:150038854-150038866
12	CHD2	chr7:150038458-150039351	H1-hESC	embryonic stem cell:	n/a	n/a
13	TAF1	chr7:150038539-150039107	HepG2	liver:	n/a	n/a
14	POLR2A	chr7:150038501-150038762	H1-hESC	embryonic stem cell:	n/a	n/a
15	MAX	chr7:150038452-150039177	H1-hESC	embryonic stem cell:	n/a	chr7:150038858-150038868
16	TBP	chr7:150038572-150039149	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chr7:150038589-150038750	H1-hESC	embryonic stem cell:	n/a	n/a
18	MAZ	chr7:150038441-150039115	HepG2	liver:	n/a	chr7:150038858-150038868
19	CEBPD	chr7:150038491-150038743	HepG2	liver:	n/a	n/a
20	E2F6	chr7:150038482-150039403	H1-hESC	embryonic stem cell:	n/a	chr7:150038926-150038936 chr7:150038852-150038867 chr7:150038854-150038866
21	ZBTB7A	chr7:150038618-150038907	HepG2	liver:	n/a	n/a
22	POLR2A	chr7:150038547-150039056	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:150038539..150040315-chr7:150063994..150067487,3	MCF-7	breast:
2	chr7:150034163..150038835-chr7:150063325..150067223,6	MCF-7	breast:
3	chr7:150019150..150025305-chr7:150035524..150043799,10	MCF-7	breast:
4	chr7:150018389..150025798-chr7:150030734..150040389,17	MCF-7	breast:

Variant related genes	Relation type
ENSG00000261305	TF binding region
ENSG00000196456	Chromatin interaction
ENSG00000127399	Chromatin interaction
ENSG00000214022	Chromatin interaction
ENSG00000106526	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10263613	0.85[CHD][hapmap]
rs10282615	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12703068	1.00[CEU][hapmap]
rs17173608	1.00[ASW][hapmap];0.85[LWK][hapmap];0.83[ASN][1000 genomes]
rs1880315	1.00[CEU][hapmap]
rs1996981	1.00[CEU][hapmap]
rs2030681	1.00[CEU][hapmap]
rs2888634	1.00[CEU][hapmap]
rs4725894	1.00[CEU][hapmap]
rs6944824	1.00[CEU][hapmap]
rs6970196	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6973612	1.00[CEU][hapmap];0.85[CHD][hapmap]
rs73474343	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1034409	chr7:149844639-150447071	Flanking Active TSS Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
2	nsv608990	chr7:149961274-150707488	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
3	nsv1015582	chr7:149967986-150285104	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
4	nsv508490	chr7:150006068-150051241	Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription Genic enhancers Flanking Active TSS 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	21 gene(s)	inside rSNPs	diseases
5	nsv889453	chr7:150009838-150104410	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
6	nsv889454	chr7:150009838-150115183	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
7	nsv889455	chr7:150013393-150104410	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
8	nsv889456	chr7:150013393-150115183	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
9	nsv1017368	chr7:150016952-150655773	Bivalent Enhancer ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
10	nsv539195	chr7:150016952-150655773	Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
11	nsv889457	chr7:150020295-150104410	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
12	nsv889458	chr7:150020295-150115183	Enhancers Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
13	nsv521407	chr7:150020295-150118590	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
14	nsv465211	chr7:150035526-150104410	Flanking Active TSS Active TSS Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
15	nsv608991	chr7:150035526-150104410	Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10275627	ATP6V0E2	cis	lymphoblastoid	seeQTL

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150036000-150039200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr7:150036200-150038800	Bivalent Enhancer	Fetal Brain Male	brain
3	chr7:150036600-150039200	Active TSS	Colon Smooth Muscle	Colon
4	chr7:150036800-150038800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
5	chr7:150037000-150038800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr7:150037000-150038800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr7:150037400-150038800	Active TSS	Liver	Liver
8	chr7:150037400-150038800	Active TSS	Fetal Kidney	kidney
9	chr7:150037400-150038800	Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr7:150037400-150038800	Bivalent/Poised TSS	Fetal Stomach	stomach
11	chr7:150037400-150039000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
12	chr7:150037400-150039000	Bivalent/Poised TSS	Psoas Muscle	Psoas
13	chr7:150037400-150039200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
14	chr7:150037400-150039400	Active TSS	Rectal Smooth Muscle	rectum
15	chr7:150037600-150038800	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr7:150037600-150039000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr7:150037600-150039000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
18	chr7:150037600-150039000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
19	chr7:150037600-150039000	Active TSS	Ovary	ovary
20	chr7:150037600-150039000	Active TSS	HepG2	liver
21	chr7:150037600-150039000	Bivalent/Poised TSS	NHLF	lung
22	chr7:150037600-150039200	Active TSS	Breast Myoepithelial Primary Cells	Breast
23	chr7:150037600-150039200	Active TSS	Aorta	Aorta
24	chr7:150037600-150039200	Active TSS	Rectal Mucosa Donor 29	rectum
25	chr7:150037600-150039200	Active TSS	Right Atrium	heart
26	chr7:150037600-150039200	Weak transcription	Dnd41	blood
27	chr7:150037600-150039200	Weak transcription	K562	blood
28	chr7:150037600-150039400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
29	chr7:150037800-150038800	Active TSS	Gastric	stomach
30	chr7:150037800-150039000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
31	chr7:150037800-150039000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
32	chr7:150037800-150039000	Bivalent/Poised TSS	Fetal Lung	lung
33	chr7:150037800-150039200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr7:150038000-150039000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
35	chr7:150038000-150039000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
36	chr7:150038000-150039200	Active TSS	Brain Substantia Nigra	brain
37	chr7:150038000-150039200	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
38	chr7:150038200-150038800	Active TSS	Brain Anterior Caudate	brain
39	chr7:150038200-150038800	Bivalent/Poised TSS	Esophagus	oesophagus
40	chr7:150038200-150039000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr7:150038400-150038800	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr7:150038400-150039000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
43	chr7:150038400-150039000	Bivalent/Poised TSS	Fetal Intestine Small	intestine
44	chr7:150038400-150039000	Active TSS	Right Ventricle	heart
45	chr7:150038400-150039400	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr7:150038400-150039400	Enhancers	Spleen	Spleen
47	chr7:150038600-150038800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr7:150038600-150038800	Active TSS	Brain Inferior Temporal Lobe	brain
49	chr7:150038600-150038800	Bivalent/Poised TSS	Fetal Brain Female	brain
50	chr7:150038600-150038800	Bivalent/Poised TSS	Fetal Intestine Large	intestine

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