Variant report

Variant	rs367887292
Chromosome Location	chr10:90694970-90694971
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:92)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:92 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr10:90694953-90695434	GM12878	blood:	n/a	n/a
2	BHLHE40	chr10:90694594-90695576	GM12878	blood:	n/a	n/a
3	RAD21	chr10:90694544-90695525	IMR90	lung:	n/a	n/a
4	CTCF	chr10:90694542-90695822	SK-N-SH	brain:	n/a	chr10:90695626-90695635
5	CTCF	chr10:90694386-90695806	HCT-116	colon:	n/a	chr10:90695626-90695635
6	BCLAF1	chr10:90694507-90695585	GM12878	blood:	n/a	n/a
7	FOXM1	chr10:90694523-90695503	GM12878	blood:	n/a	n/a
8	CEBPB	chr10:90694552-90695638	GM12878	blood:	n/a	n/a
9	CTCF	chr10:90694331-90696214	A549	lung:	n/a	chr10:90695626-90695635
10	RAD21	chr10:90694555-90695597	GM12878	blood:	n/a	n/a
11	RAD21	chr10:90694530-90695628	ECC-1	luminal epithelium:	n/a	n/a
12	POLR2A	chr10:90694957-90695762	GM12878	blood:	n/a	n/a
13	RAD21	chr10:90694521-90695786	ECC-1	luminal epithelium:	n/a	n/a
14	CTCF	chr10:90694593-90695449	Lung_OC	lung:	n/a	n/a
15	PAX5	chr10:90694956-90695155	GM12892	blood:	n/a	n/a
16	CHD2	chr10:90694634-90695370	Hela-S3	cervix:	n/a	n/a
17	CTCF	chr10:90694958-90695500	Spleen_OC	spleen:	n/a	n/a
18	CTCF	chr10:90694950-90695422	GM19238	blood:	n/a	n/a
19	ARID3A	chr10:90694571-90695490	HepG2	liver:	n/a	n/a
20	RAD21	chr10:90694555-90695593	H1-hESC	embryonic stem cell:	n/a	n/a
21	ZNF143	chr10:90694586-90695347	Hela-S3	cervix:	n/a	n/a
22	CTCF	chr10:90694601-90695437	Gliobla	brain:	n/a	n/a
23	SMC3	chr10:90694591-90695519	HepG2	liver:	n/a	n/a
24	RAD21	chr10:90694593-90695467	A549	lung:	n/a	n/a
25	MAZ	chr10:90694517-90695651	GM12878	blood:	n/a	n/a
26	CTCF	chr10:90694820-90694970	A549	lung:	n/a	n/a
27	RAD21	chr10:90694584-90695588	SK-N-SH_RA	brain:	n/a	n/a
28	MAX	chr10:90694589-90694979	H1-hESC	embryonic stem cell:	n/a	chr10:90694727-90694737
29	CTCF	chr10:90694577-90695476	K562	blood:	n/a	n/a
30	CTCF	chr10:90694483-90695531	A549	lung:	n/a	n/a
31	RAD21	chr10:90694512-90695033	A549	lung:	n/a	n/a
32	RAD21	chr10:90694493-90695635	A549	lung:	n/a	n/a
33	CTCF	chr10:90694964-90695101	HUVEC	blood vessel:	n/a	n/a
34	GTF2F1	chr10:90694624-90695519	Hela-S3	cervix:	n/a	n/a
35	CTCF	chr10:90694956-90695424	GM19239	blood:	n/a	n/a
36	MAFK	chr10:90694612-90695513	Hela-S3	cervix:	n/a	n/a
37	CTCF	chr10:90694551-90695509	K562	blood:	n/a	n/a
38	WRNIP1	chr10:90694612-90695554	GM12878	blood:	n/a	n/a
39	CTCF	chr10:90694539-90695655	GM12878	blood:	n/a	chr10:90695626-90695635
40	MAX	chr10:90694542-90695629	NB4	blood:	n/a	chr10:90694727-90694737
41	CTCF	chr10:90694946-90695417	GM12892	blood:	n/a	n/a
42	CHD2	chr10:90694694-90695478	GM12878	blood:	n/a	n/a
43	MTA3	chr10:90694529-90695392	GM12878	blood:	n/a	n/a
44	CTCF	chr10:90694942-90695438	GM10266	blood:	n/a	n/a
45	RAD21	chr10:90694429-90695618	HCT-116	colon:	n/a	n/a
46	POLR2A	chr10:90694324-90695411	SK-N-SH	brain:	n/a	n/a
47	CTCF	chr10:90694494-90695517	HepG2	liver:	n/a	n/a
48	RAD21	chr10:90694560-90695493	HepG2	liver:	n/a	n/a
49	RAD21	chr10:90694580-90695651	MCF-7	breast:	n/a	n/a
50	RELA	chr10:90694642-90695544	GM19099	blood:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:90694072..90695760-chr10:90972688..90973953,5	K562	blood:
2	chr10:90694289..90695530-chr10:90746407..90747396,8	K562	blood:
3	chr10:90694766..90695788-chr10:90977194..90977863,3	MCF-7	breast:
4	chr10:90694469..90695004-chr10:90977172..90978110,2	MCF-7	breast:
5	chr10:90693883..90696142-chr10:90743433..90746344,2	MCF-7	breast:
6	chr10:90694758..90695380-chr10:90973136..90973942,2	MCF-7	breast:
7	chr10:90694253..90695800-chr10:90745177..90747385,25	MCF-7	breast:
8	chr10:90694789..90695368-chr10:90747585..90748463,2	MCF-7	breast:
9	chr10:90694957..90695602-chr10:90711260..90711824,2	MCF-7	breast:
10	chr10:90694284..90695841-chr10:90746413..90747615,9	MCF-7	breast:

No data

Variant related genes	Relation type
ACTA2-AS1	TF binding region

Extended variants
information (count: 6 )
Associated
traits (count: 0)

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	nsv529324	chr10:90198865-90738588	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv1042848	chr10:90466032-91318474	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
3	nsv540741	chr10:90466032-91318474	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
4	nsv831942	chr10:90564697-90730352	Flanking Active TSS Genic enhancers Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv831943	chr10:90664836-90865834	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	nsv948130	chr10:90694968-90695578	Active TSS Genic enhancers Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:90655200-90701400	Weak transcription	Gastric	stomach
2	chr10:90660400-90695000	Weak transcription	Fetal Brain Male	brain
3	chr10:90675800-90696400	Weak transcription	Spleen	Spleen
4	chr10:90681400-90697800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr10:90685800-90695000	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr10:90686000-90697600	Weak transcription	Left Ventricle	heart
7	chr10:90686800-90697800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr10:90687000-90695000	Weak transcription	Primary B cells from cord blood	blood
9	chr10:90687400-90695000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr10:90689200-90695000	Weak transcription	Primary T cells from cord blood	blood
11	chr10:90691400-90697800	Weak transcription	Small Intestine	intestine
12	chr10:90692400-90695000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr10:90692400-90695000	Weak transcription	Lung	lung
14	chr10:90692400-90695000	Weak transcription	Ovary	ovary
15	chr10:90692400-90699200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr10:90692400-90711000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr10:90692600-90695000	Weak transcription	Fetal Lung	lung
18	chr10:90693400-90695600	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr10:90693400-90697200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr10:90693800-90695000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
21	chr10:90693800-90695200	Weak transcription	Fetal Muscle Trunk	muscle
22	chr10:90694600-90695000	Strong transcription	Duodenum Smooth Muscle	Duodenum
23	chr10:90694600-90695000	Strong transcription	Fetal Stomach	stomach
24	chr10:90694600-90695800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr10:90694600-90695800	Enhancers	Fetal Heart	heart
26	chr10:90694600-90707400	Strong transcription	HSMMtube	muscle
27	chr10:90694800-90695000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
28	chr10:90694800-90695000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
29	chr10:90694800-90695000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr10:90694800-90695000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr10:90694800-90695000	Flanking Active TSS	Brain Angular Gyrus	brain
32	chr10:90694800-90695000	Enhancers	Colonic Mucosa	Colon
33	chr10:90694800-90695000	Flanking Active TSS	Fetal Kidney	kidney
34	chr10:90694800-90695000	Genic enhancers	Stomach Smooth Muscle	stomach
35	chr10:90694800-90695000	Enhancers	HMEC	breast
36	chr10:90694800-90695200	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr10:90694800-90695200	Enhancers	H1 Cell Line	embryonic stem cell
38	chr10:90694800-90695200	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr10:90694800-90695200	Enhancers	iPS-20b Cell Line	embryonic stem cell
40	chr10:90694800-90695200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr10:90694800-90695200	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr10:90694800-90695200	Enhancers	Primary hematopoietic stem cells	blood
43	chr10:90694800-90695200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
44	chr10:90694800-90695200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
45	chr10:90694800-90695200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
46	chr10:90694800-90695200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr10:90694800-90695200	Flanking Active TSS	Adipose Nuclei	Adipose
48	chr10:90694800-90695200	Flanking Active TSS	Liver	Liver
49	chr10:90694800-90695200	Flanking Active TSS	Brain Anterior Caudate	brain
50	chr10:90694800-90695200	Flanking Active TSS	Brain Cingulate Gyrus	brain

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