Variant report

Variant	rs564427254
Chromosome Location	chr10:116852310-116852311
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	CHD2	chr10:116852230-116852612	H1-hESC	embryonic stem cell:	n/a	chr10:116852397-116852407
2	MAX	chr10:116852107-116852902	H1-hESC	embryonic stem cell:	n/a	chr10:116852576-116852586 chr10:116852752-116852768 chr10:116852817-116852826
3	REST	chr10:116851661-116853904	H1-neurons	neurons:	n/a	chr10:116852294-116852307
4	MAX	chr10:116852235-116852750	SK-N-SH	brain:	n/a	chr10:116852576-116852586
5	CTCF	chr10:116852240-116852390	WERI-Rb-1	eye:	n/a	n/a
6	TAF1	chr10:116852049-116853442	H1-hESC	embryonic stem cell:	n/a	n/a
7	ZBTB7A	chr10:116852306-116853058	ECC-1	luminal epithelium:	n/a	chr10:116852330-116852339 chr10:116853037-116853046
8	GTF2F1	chr10:116852184-116852496	H1-hESC	embryonic stem cell:	n/a	n/a
9	MXI1	chr10:116850943-116855017	SK-N-SH	brain:	n/a	n/a
10	TBP	chr10:116852167-116852630	H1-hESC	embryonic stem cell:	n/a	n/a
11	CHD1	chr10:116852152-116853647	H1-hESC	embryonic stem cell:	n/a	chr10:116853005-116853015 chr10:116852397-116852407 chr10:116852845-116852855
12	E2F6	chr10:116851974-116852888	H1-hESC	embryonic stem cell:	n/a	chr10:116852331-116852340
13	YY1	chr10:116852146-116852653	GM12892	blood:	n/a	n/a
14	POLR2A	chr10:116852042-116853801	H1-neurons	neurons:	n/a	n/a
15	POLR2A	chr10:116852206-116853744	GM12892	blood:	n/a	n/a
16	TAF1	chr10:116852100-116852594	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chr10:116852098-116853827	H1-hESC	embryonic stem cell:	n/a	n/a
18	YY1	chr10:116852174-116852549	SK-N-SH_RA	brain:	n/a	n/a
19	YY1	chr10:116852085-116852742	H1-hESC	embryonic stem cell:	n/a	n/a
20	MAX	chr10:116852111-116853259	A549	lung:	n/a	chr10:116853041-116853051 chr10:116852576-116852586 chr10:116852752-116852768 chr10:116852817-116852826
21	MAZ	chr10:116852219-116853693	IMR90	lung:	n/a	chr10:116853041-116853051 chr10:116852576-116852586 chr10:116852752-116852768 chr10:116852817-116852826
22	E2F6	chr10:116852085-116852782	H1-hESC	embryonic stem cell:	n/a	chr10:116852331-116852340
23	MAX	chr10:116852206-116852883	A549	lung:	n/a	chr10:116852576-116852586 chr10:116852752-116852768 chr10:116852817-116852826
24	RAD21	chr10:116852288-116852681	SK-N-SH_RA	brain:	n/a	n/a
25	JUND	chr10:116852072-116853318	H1-hESC	embryonic stem cell:	n/a	n/a
26	MAX	chr10:116852113-116853449	ECC-1	luminal epithelium:	n/a	chr10:116853041-116853051 chr10:116852576-116852586 chr10:116852752-116852768 chr10:116852817-116852826
27	POLR2A	chr10:116852102-116853861	H1-neurons	neurons:	n/a	n/a
28	MAX	chr10:116852198-116852681	H1-hESC	embryonic stem cell:	n/a	chr10:116852576-116852586
29	TAF1	chr10:116852137-116852849	H1-neurons	neurons:	n/a	n/a
30	YY1	chr10:116852148-116852604	SK-N-SH_RA	brain:	n/a	n/a
31	E2F6	chr10:116852194-116852814	A549	lung:	n/a	chr10:116852331-116852340
32	ZBTB7A	chr10:116852208-116853214	ECC-1	luminal epithelium:	n/a	chr10:116852330-116852339 chr10:116853037-116853046
33	STAT5A	chr10:116852256-116852651	GM12878	blood:	n/a	chr10:116852424-116852436
34	CEBPB	chr10:116852024-116852345	H1-hESC	embryonic stem cell:	n/a	n/a
35	POLR2A	chr10:116852159-116852667	H1-hESC	embryonic stem cell:	n/a	n/a
36	POLR2A	chr10:116852243-116853507	HEK293	kidney:	n/a	n/a
37	POLR2A	chr10:116852157-116853542	Gliobla	brain:	n/a	n/a
38	POLR2A	chr10:116852180-116852692	H1-hESC	embryonic stem cell:	n/a	n/a
39	JUND	chr10:116851708-116853413	SK-N-SH	brain:	n/a	n/a
40	TCF7L2	chr10:116852214-116852559	PANC-1	pancreas:	n/a	n/a
41	POLR2A	chr10:116852082-116852621	H1-hESC	embryonic stem cell:	n/a	n/a
42	MAX	chr10:116852107-116853248	H1-hESC	embryonic stem cell:	n/a	chr10:116853041-116853051 chr10:116852576-116852586 chr10:116852752-116852768 chr10:116852817-116852826
43	ZNF143	chr10:116852099-116852531	H1-hESC	embryonic stem cell:	n/a	n/a
44	MAX	chr10:116852191-116852776	SK-N-SH	brain:	n/a	chr10:116852576-116852586 chr10:116852752-116852768
45	MAX	chr10:116852047-116852886	ECC-1	luminal epithelium:	n/a	chr10:116852576-116852586 chr10:116852752-116852768 chr10:116852817-116852826
46	YY1	chr10:116852192-116852585	H1-hESC	embryonic stem cell:	n/a	n/a
47	MYC	chr10:116852220-116852748	H1-hESC	embryonic stem cell:	n/a	chr10:116852576-116852586
48	TCF12	chr10:116852248-116852436	H1-hESC	embryonic stem cell:	n/a	n/a
49	TAF1	chr10:116852022-116853005	H1-neurons	neurons:	n/a	n/a
50	POLR2A	chr10:116852072-116853051	SK-N-MC	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:116696953..116700606-chr10:116852065..116855116,4	MCF-7	breast:

Variant related genes	Relation type
ATRNL1	TF binding region
ENSG00000165832	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949138	chr10:116311531-116874477	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv1038050	chr10:116315109-116895719	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	nsv533027	chr10:116344641-116856352	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	esv3435429	chr10:116394152-117006347	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	nsv1039002	chr10:116643095-116879483	Active TSS Enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
6	esv2761634	chr10:116643095-116879495	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
7	nsv1045654	chr10:116654574-116879483	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh 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
8	nsv1043242	chr10:116655057-116883386	Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh 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
9	nsv831997	chr10:116689552-116855698	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
10	nsv831998	chr10:116847998-116969618	Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
11	esv3351020	chr10:116851912-116854210	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:116851400-116853400	Active TSS	Stomach Smooth Muscle	stomach
2	chr10:116851600-116852600	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
3	chr10:116851600-116853200	Active TSS	Brain Cingulate Gyrus	brain
4	chr10:116851600-116854200	Active TSS	Brain Inferior Temporal Lobe	brain
5	chr10:116851600-116855800	Active TSS	Ovary	ovary
6	chr10:116851600-116856200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
7	chr10:116851800-116852600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr10:116851800-116852600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr10:116851800-116852600	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
10	chr10:116851800-116854200	Active TSS	Fetal Brain Female	brain
11	chr10:116851800-116854400	Active TSS	Fetal Kidney	kidney
12	chr10:116851800-116854800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr10:116851800-116856200	Active TSS	Brain Anterior Caudate	brain
14	chr10:116852000-116852400	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr10:116852000-116852400	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr10:116852000-116852400	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
17	chr10:116852000-116852400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr10:116852000-116852400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
19	chr10:116852000-116852600	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
20	chr10:116852000-116853200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
21	chr10:116852000-116853200	Active TSS	HSMMtube	muscle
22	chr10:116852000-116853600	Active TSS	Breast Myoepithelial Primary Cells	Breast
23	chr10:116852000-116853600	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr10:116852000-116853600	Active TSS	Brain Substantia Nigra	brain
25	chr10:116852000-116853600	Bivalent/Poised TSS	Osteobl	bone
26	chr10:116852000-116853800	Active TSS	H1 Cell Line	embryonic stem cell
27	chr10:116852000-116853800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr10:116852000-116853800	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr10:116852000-116853800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr10:116852000-116853800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr10:116852000-116853800	Flanking Bivalent TSS/Enh	Dnd41	blood
32	chr10:116852000-116854000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
33	chr10:116852000-116854000	Active TSS	Colon Smooth Muscle	Colon
34	chr10:116852000-116854000	Bivalent/Poised TSS	A549	lung
35	chr10:116852000-116854200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr10:116852000-116854200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr10:116852000-116854200	Active TSS	Psoas Muscle	Psoas
38	chr10:116852000-116854400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
39	chr10:116852000-116854400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
40	chr10:116852000-116854600	Active TSS	H9 Cell Line	embryonic stem cell
41	chr10:116852000-116854600	Active TSS	Aorta	Aorta
42	chr10:116852000-116854600	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
43	chr10:116852000-116854600	Active TSS	Right Atrium	heart
44	chr10:116852000-116856200	Active TSS	Brain Angular Gyrus	brain
45	chr10:116852200-116852400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
46	chr10:116852200-116852400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
47	chr10:116852200-116852400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
48	chr10:116852200-116852400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
49	chr10:116852200-116852400	Bivalent/Poised TSS	Primary T helper memory cells from peripheral blood 2	blood
50	chr10:116852200-116852400	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood

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