Variant report

Variant	rs558539311
Chromosome Location	chr10:116852774-116852775
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	MAX	chr10:116852107-116852902	H1-hESC	embryonic stem cell:	n/a	chr10:116852576-116852586 chr10:116852752-116852768 chr10:116852817-116852826
2	REST	chr10:116851661-116853904	H1-neurons	neurons:	n/a	chr10:116852294-116852307
3	TAF1	chr10:116852049-116853442	H1-hESC	embryonic stem cell:	n/a	n/a
4	ZBTB7A	chr10:116852306-116853058	ECC-1	luminal epithelium:	n/a	chr10:116852330-116852339 chr10:116853037-116853046
5	PAX5	chr10:116852695-116853770	GM12892	blood:	n/a	chr10:116852788-116852797 chr10:116852810-116852819
6	SIN3AK20	chr10:116852542-116853762	PANC-1	pancreas:	n/a	n/a
7	MXI1	chr10:116850943-116855017	SK-N-SH	brain:	n/a	n/a
8	TAF1	chr10:116852747-116853406	H1-hESC	embryonic stem cell:	n/a	n/a
9	CHD1	chr10:116852152-116853647	H1-hESC	embryonic stem cell:	n/a	chr10:116853005-116853015 chr10:116852397-116852407 chr10:116852845-116852855
10	E2F6	chr10:116851974-116852888	H1-hESC	embryonic stem cell:	n/a	chr10:116852331-116852340
11	POLR2A	chr10:116852042-116853801	H1-neurons	neurons:	n/a	n/a
12	YY1	chr10:116852686-116853352	GM12892	blood:	n/a	chr10:116852965-116852984 chr10:116852970-116852982 chr10:116852929-116852943 chr10:116852941-116852955 chr10:116852934-116852945
13	POLR2A	chr10:116852206-116853744	GM12892	blood:	n/a	n/a
14	POLR2A	chr10:116852098-116853827	H1-hESC	embryonic stem cell:	n/a	n/a
15	E2F6	chr10:116852445-116852812	A549	lung:	n/a	n/a
16	MAX	chr10:116852111-116853259	A549	lung:	n/a	chr10:116853041-116853051 chr10:116852576-116852586 chr10:116852752-116852768 chr10:116852817-116852826
17	MAZ	chr10:116852219-116853693	IMR90	lung:	n/a	chr10:116853041-116853051 chr10:116852576-116852586 chr10:116852752-116852768 chr10:116852817-116852826
18	E2F6	chr10:116852085-116852782	H1-hESC	embryonic stem cell:	n/a	chr10:116852331-116852340
19	MAX	chr10:116852206-116852883	A549	lung:	n/a	chr10:116852576-116852586 chr10:116852752-116852768 chr10:116852817-116852826
20	JUND	chr10:116852072-116853318	H1-hESC	embryonic stem cell:	n/a	n/a
21	MAX	chr10:116852113-116853449	ECC-1	luminal epithelium:	n/a	chr10:116853041-116853051 chr10:116852576-116852586 chr10:116852752-116852768 chr10:116852817-116852826
22	CTCF	chr10:116852699-116854166	SK-N-SH	brain:	n/a	n/a
23	POLR2A	chr10:116852102-116853861	H1-neurons	neurons:	n/a	n/a
24	TAF1	chr10:116852137-116852849	H1-neurons	neurons:	n/a	n/a
25	BACH1	chr10:116852386-116853318	H1-hESC	embryonic stem cell:	n/a	n/a
26	E2F6	chr10:116852194-116852814	A549	lung:	n/a	chr10:116852331-116852340
27	GATA3	chr10:116852773-116853356	A549	lung:	n/a	n/a
28	ZBTB7A	chr10:116852208-116853214	ECC-1	luminal epithelium:	n/a	chr10:116852330-116852339 chr10:116853037-116853046
29	POLR2A	chr10:116852243-116853507	HEK293	kidney:	n/a	n/a
30	POLR2A	chr10:116852157-116853542	Gliobla	brain:	n/a	n/a
31	JUND	chr10:116851708-116853413	SK-N-SH	brain:	n/a	n/a
32	HA-E2F1	chr10:116852748-116853631	MCF-7	breast:	n/a	chr10:116853054-116853068
33	EGR1	chr10:116852737-116852978	GM12878	blood:	n/a	chr10:116852810-116852819 chr10:116852801-116852814 chr10:116852895-116852909
34	MAX	chr10:116852107-116853248	H1-hESC	embryonic stem cell:	n/a	chr10:116853041-116853051 chr10:116852576-116852586 chr10:116852752-116852768 chr10:116852817-116852826
35	POLR2A	chr10:116852695-116852857	GM12878	blood:	n/a	n/a
36	MAX	chr10:116852191-116852776	SK-N-SH	brain:	n/a	chr10:116852576-116852586 chr10:116852752-116852768
37	TCF12	chr10:116852474-116853878	ECC-1	luminal epithelium:	n/a	chr10:116852762-116852769
38	MAX	chr10:116852047-116852886	ECC-1	luminal epithelium:	n/a	chr10:116852576-116852586 chr10:116852752-116852768 chr10:116852817-116852826
39	EP300	chr10:116852752-116853162	H1-hESC	embryonic stem cell:	n/a	chr10:116852938-116852954
40	YY1	chr10:116852704-116853108	GM12891	blood:	n/a	chr10:116852965-116852984 chr10:116852970-116852982 chr10:116852929-116852943 chr10:116852941-116852955 chr10:116852934-116852945
41	TAF1	chr10:116852022-116853005	H1-neurons	neurons:	n/a	n/a
42	POLR2A	chr10:116852072-116853051	SK-N-MC	brain:	n/a	n/a
43	ZNF263	chr10:116851894-116853832	HEK293-T-REx	kidney:	n/a	chr10:116852877-116852886 chr10:116853398-116853407
44	SIN3A	chr10:116852076-116854224	H1-hESC	embryonic stem cell:	n/a	chr10:116853015-116853026
45	POLR2A	chr10:116852131-116853471	GM12892	blood:	n/a	n/a
46	JUND	chr10:116852728-116853106	A549	lung:	n/a	n/a
47	POLR2A	chr10:116851871-116853813	H1-hESC	embryonic stem cell:	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:110 , 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	chr10:116851600-116853200	Active TSS	Brain Cingulate Gyrus	brain
3	chr10:116851600-116854200	Active TSS	Brain Inferior Temporal Lobe	brain
4	chr10:116851600-116855800	Active TSS	Ovary	ovary
5	chr10:116851600-116856200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
6	chr10:116851800-116854200	Active TSS	Fetal Brain Female	brain
7	chr10:116851800-116854400	Active TSS	Fetal Kidney	kidney
8	chr10:116851800-116854800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr10:116851800-116856200	Active TSS	Brain Anterior Caudate	brain
10	chr10:116852000-116853200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
11	chr10:116852000-116853200	Active TSS	HSMMtube	muscle
12	chr10:116852000-116853600	Active TSS	Breast Myoepithelial Primary Cells	Breast
13	chr10:116852000-116853600	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr10:116852000-116853600	Active TSS	Brain Substantia Nigra	brain
15	chr10:116852000-116853600	Bivalent/Poised TSS	Osteobl	bone
16	chr10:116852000-116853800	Active TSS	H1 Cell Line	embryonic stem cell
17	chr10:116852000-116853800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr10:116852000-116853800	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr10:116852000-116853800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr10:116852000-116853800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr10:116852000-116853800	Flanking Bivalent TSS/Enh	Dnd41	blood
22	chr10:116852000-116854000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
23	chr10:116852000-116854000	Active TSS	Colon Smooth Muscle	Colon
24	chr10:116852000-116854000	Bivalent/Poised TSS	A549	lung
25	chr10:116852000-116854200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr10:116852000-116854200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr10:116852000-116854200	Active TSS	Psoas Muscle	Psoas
28	chr10:116852000-116854400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
29	chr10:116852000-116854400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
30	chr10:116852000-116854600	Active TSS	H9 Cell Line	embryonic stem cell
31	chr10:116852000-116854600	Active TSS	Aorta	Aorta
32	chr10:116852000-116854600	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
33	chr10:116852000-116854600	Active TSS	Right Atrium	heart
34	chr10:116852000-116856200	Active TSS	Brain Angular Gyrus	brain
35	chr10:116852200-116852800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr10:116852200-116852800	Active TSS	Lung	lung
37	chr10:116852200-116852800	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
38	chr10:116852200-116853000	Bivalent/Poised TSS	Thymus	Thymus
39	chr10:116852200-116853200	Bivalent/Poised TSS	Colonic Mucosa	Colon
40	chr10:116852200-116853200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
41	chr10:116852200-116853400	Active TSS	HUES6 Cell Line	embryonic stem cell
42	chr10:116852200-116853400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr10:116852200-116853400	Active TSS	Cortex derived primary cultured neurospheres	brain
44	chr10:116852200-116853400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr10:116852200-116853600	Bivalent/Poised TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr10:116852200-116853600	Active TSS	Primary T cells from cord blood	blood
47	chr10:116852200-116853600	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
48	chr10:116852200-116853600	Active TSS	Placenta Amnion	Placenta Amnion
49	chr10:116852200-116853800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr10:116852200-116853800	Flanking Active TSS	Primary hematopoietic stem cells	blood

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