Variant report

Variant	rs11202904
Chromosome Location	chr10:90695040-90695041
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:100)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:100 , 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	chr10:90695034-90695044	NHEK	skin:	n/a	n/a
5	CTCF	chr10:90694994-90695449	MCF-7	breast:	n/a	n/a
6	CTCF	chr10:90694542-90695822	SK-N-SH	brain:	n/a	chr10:90695626-90695635
7	CTCF	chr10:90694386-90695806	HCT-116	colon:	n/a	chr10:90695626-90695635
8	BCLAF1	chr10:90694507-90695585	GM12878	blood:	n/a	n/a
9	FOXM1	chr10:90694523-90695503	GM12878	blood:	n/a	n/a
10	CEBPB	chr10:90694552-90695638	GM12878	blood:	n/a	n/a
11	CTCF	chr10:90694331-90696214	A549	lung:	n/a	chr10:90695626-90695635
12	RAD21	chr10:90694555-90695597	GM12878	blood:	n/a	n/a
13	CTCF	chr10:90694997-90695072	GM10248	blood:	n/a	n/a
14	RAD21	chr10:90694530-90695628	ECC-1	luminal epithelium:	n/a	n/a
15	POLR2A	chr10:90694957-90695762	GM12878	blood:	n/a	n/a
16	RAD21	chr10:90694521-90695786	ECC-1	luminal epithelium:	n/a	n/a
17	CTCF	chr10:90695011-90695077	MCF-7	breast:	n/a	n/a
18	CTCF	chr10:90694593-90695449	Lung_OC	lung:	n/a	n/a
19	CTCF	chr10:90694982-90695113	GM12891	blood:	n/a	n/a
20	PAX5	chr10:90694956-90695155	GM12892	blood:	n/a	n/a
21	CHD2	chr10:90694634-90695370	Hela-S3	cervix:	n/a	n/a
22	CTCF	chr10:90694958-90695500	Spleen_OC	spleen:	n/a	n/a
23	CTCF	chr10:90694950-90695422	GM19238	blood:	n/a	n/a
24	ARID3A	chr10:90694571-90695490	HepG2	liver:	n/a	n/a
25	RAD21	chr10:90694555-90695593	H1-hESC	embryonic stem cell:	n/a	n/a
26	ZNF143	chr10:90694586-90695347	Hela-S3	cervix:	n/a	n/a
27	RAD21	chr10:90695019-90695498	H1-hESC	embryonic stem cell:	n/a	n/a
28	CTCF	chr10:90694601-90695437	Gliobla	brain:	n/a	n/a
29	SMC3	chr10:90694591-90695519	HepG2	liver:	n/a	n/a
30	RAD21	chr10:90694593-90695467	A549	lung:	n/a	n/a
31	MAZ	chr10:90694517-90695651	GM12878	blood:	n/a	n/a
32	RAD21	chr10:90694584-90695588	SK-N-SH_RA	brain:	n/a	n/a
33	CTCF	chr10:90694985-90695084	K562	blood:	n/a	n/a
34	CTCF	chr10:90694980-90695415	A549	lung:	n/a	n/a
35	CTCF	chr10:90694577-90695476	K562	blood:	n/a	n/a
36	CTCF	chr10:90694483-90695531	A549	lung:	n/a	n/a
37	CTCF	chr10:90694983-90695065	MCF-7	breast:	n/a	n/a
38	RAD21	chr10:90695028-90695506	HepG2	liver:	n/a	n/a
39	RAD21	chr10:90694493-90695635	A549	lung:	n/a	n/a
40	CTCF	chr10:90694964-90695101	HUVEC	blood vessel:	n/a	n/a
41	ATF2	chr10:90694996-90695554	GM12878	blood:	n/a	n/a
42	GTF2F1	chr10:90694624-90695519	Hela-S3	cervix:	n/a	n/a
43	CTCF	chr10:90694956-90695424	GM19239	blood:	n/a	n/a
44	MAFK	chr10:90694612-90695513	Hela-S3	cervix:	n/a	n/a
45	CTCF	chr10:90694551-90695509	K562	blood:	n/a	n/a
46	WRNIP1	chr10:90694612-90695554	GM12878	blood:	n/a	n/a
47	CTCF	chr10:90694539-90695655	GM12878	blood:	n/a	chr10:90695626-90695635
48	MAX	chr10:90694542-90695629	NB4	blood:	n/a	chr10:90694727-90694737
49	IRF4	chr10:90695038-90695493	GM12878	blood:	n/a	n/a
50	CTCF	chr10:90694946-90695417	GM12892	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	chr10:90695018..90695761-chr10:90750807..90751680,2	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
ENSG00000026103	Chromatin interaction
ENSG00000107796	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs11202862	1.00[CHB][hapmap];1.00[MEX][hapmap]
rs9988723	1.00[CHB][hapmap];1.00[MEX][hapmap]

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:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:90655200-90701400	Weak transcription	Gastric	stomach
2	chr10:90675800-90696400	Weak transcription	Spleen	Spleen
3	chr10:90681400-90697800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr10:90686000-90697600	Weak transcription	Left Ventricle	heart
5	chr10:90686800-90697800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr10:90691400-90697800	Weak transcription	Small Intestine	intestine
7	chr10:90692400-90699200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr10:90692400-90711000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr10:90693400-90695600	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr10:90693400-90697200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr10:90693800-90695200	Weak transcription	Fetal Muscle Trunk	muscle
12	chr10:90694600-90695800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr10:90694600-90695800	Enhancers	Fetal Heart	heart
14	chr10:90694600-90707400	Strong transcription	HSMMtube	muscle
15	chr10:90694800-90695200	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr10:90694800-90695200	Enhancers	H1 Cell Line	embryonic stem cell
17	chr10:90694800-90695200	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr10:90694800-90695200	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr10:90694800-90695200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr10:90694800-90695200	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr10:90694800-90695200	Enhancers	Primary hematopoietic stem cells	blood
22	chr10:90694800-90695200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
23	chr10:90694800-90695200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
24	chr10:90694800-90695200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
25	chr10:90694800-90695200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr10:90694800-90695200	Flanking Active TSS	Adipose Nuclei	Adipose
27	chr10:90694800-90695200	Flanking Active TSS	Liver	Liver
28	chr10:90694800-90695200	Flanking Active TSS	Brain Anterior Caudate	brain
29	chr10:90694800-90695200	Flanking Active TSS	Brain Cingulate Gyrus	brain
30	chr10:90694800-90695200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
31	chr10:90694800-90695200	Enhancers	Esophagus	oesophagus
32	chr10:90694800-90695200	Enhancers	Rectal Mucosa Donor 29	rectum
33	chr10:90694800-90695200	Enhancers	Right Atrium	heart
34	chr10:90694800-90695200	Enhancers	Right Ventricle	heart
35	chr10:90694800-90695200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
36	chr10:90694800-90695200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
37	chr10:90694800-90695200	Genic enhancers	Stomach Mucosa	stomach
38	chr10:90694800-90695200	Flanking Active TSS	A549	lung
39	chr10:90694800-90695200	Genic enhancers	Dnd41	blood
40	chr10:90694800-90695200	Flanking Active TSS	Hela-S3	cervix
41	chr10:90694800-90695200	Genic enhancers	HSMM	muscle
42	chr10:90694800-90695200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
43	chr10:90694800-90695200	Flanking Active TSS	NHEK	skin
44	chr10:90694800-90695400	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
45	chr10:90694800-90695400	Active TSS	Pancreatic Islets	Pancreatic Islet
46	chr10:90694800-90695400	Enhancers	Placenta	Placenta
47	chr10:90694800-90695400	Enhancers	HUVEC	blood vessel
48	chr10:90694800-90695600	Enhancers	HUES6 Cell Line	embryonic stem cell
49	chr10:90694800-90695600	Enhancers	iPS-15b Cell Line	embryonic stem cell
50	chr10:90694800-90695600	Enhancers	Primary monocytes fromperipheralblood	blood

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