Variant report

Variant	rs12359697
Chromosome Location	chr10:45485934-45485935
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:149)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:149 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr10:45485764-45486228	K562	blood:	n/a	n/a
2	FOXA2	chr10:45485616-45485979	HepG2	liver:	n/a	n/a
3	RCOR1	chr10:45485812-45486222	K562	blood:	n/a	n/a
4	RAD21	chr10:45485874-45486227	A549	lung:	n/a	n/a
5	RAD21	chr10:45485916-45486137	Hela-S3	cervix:	n/a	n/a
6	CTCF	chr10:45485928-45486114	HUVEC	blood vessel:	n/a	n/a
7	SPI1	chr10:45485839-45486051	K562	blood:	n/a	n/a
8	CTCF	chr10:45485908-45486062	SK-N-SH_RA	brain:	n/a	n/a
9	CTCF	chr10:45485775-45486331	SK-N-SH	brain:	n/a	n/a
10	CTCF	chr10:45485916-45486117	GM12891	blood:	n/a	n/a
11	MXI1	chr10:45485586-45486084	H1-hESC	embryonic stem cell:	n/a	n/a
12	CTCF	chr10:45485804-45486142	A549	lung:	n/a	n/a
13	EP300	chr10:45485680-45486003	HepG2	liver:	n/a	n/a
14	NR2F2	chr10:45485778-45486101	K562	blood:	n/a	n/a
15	CTCF	chr10:45485840-45485990	HEEpiC	esophagus:	n/a	n/a
16	CTCF	chr10:45485753-45486186	H1-hESC	embryonic stem cell:	n/a	n/a
17	CTCF	chr10:45485920-45486070	HFF-Myc	foreskin:	n/a	n/a
18	RAD21	chr10:45485825-45486126	HepG2	liver:	n/a	n/a
19	CTCF	chr10:45485800-45485950	A549	lung:	n/a	n/a
20	FOXA1	chr10:45485570-45486049	HepG2	liver:	n/a	n/a
21	CTCF	chr10:45485900-45486050	GM12866	blood:	n/a	n/a
22	RAD21	chr10:45485648-45486376	SK-N-SH	brain:	n/a	n/a
23	RAD21	chr10:45485643-45486220	HepG2	liver:	n/a	n/a
24	CTCF	chr10:45485928-45486080	GM10248	blood:	n/a	n/a
25	HDAC2	chr10:45485583-45486013	HepG2	liver:	n/a	n/a
26	CTCF	chr10:45485642-45486183	A549	lung:	n/a	n/a
27	CTCFL	chr10:45485901-45486088	K562	blood:	n/a	n/a
28	RAD21	chr10:45485791-45486195	H1-hESC	embryonic stem cell:	n/a	n/a
29	MAX	chr10:45485818-45486072	K562	blood:	n/a	n/a
30	JUND	chr10:45485805-45486114	K562	blood:	n/a	n/a
31	MAX	chr10:45485807-45486123	K562	blood:	n/a	n/a
32	CTCF	chr10:45485878-45486033	A549	lung:	n/a	n/a
33	RAD21	chr10:45485765-45486179	H1-hESC	embryonic stem cell:	n/a	n/a
34	CTCF	chr10:45485777-45486121	MCF-7	breast:	n/a	n/a
35	RAD21	chr10:45485873-45486114	IMR90	lung:	n/a	n/a
36	RAD21	chr10:45485697-45486222	H1-hESC	embryonic stem cell:	n/a	n/a
37	CTCF	chr10:45485860-45486010	HVMF	connective:	n/a	n/a
38	FOXA1	chr10:45485516-45486032	HepG2	liver:	n/a	n/a
39	RAD21	chr10:45485877-45486072	K562	blood:	n/a	n/a
40	ZNF143	chr10:45485856-45486159	K562	blood:	n/a	n/a
41	CTCF	chr10:45485913-45486115	GM19240	blood:	n/a	n/a
42	CTCF	chr10:45485920-45486070	HBMEC	blood vessel:	n/a	n/a
43	CHD2	chr10:45485493-45486156	H1-hESC	embryonic stem cell:	n/a	n/a
44	CTCF	chr10:45485920-45486070	HMF	breast:	n/a	n/a
45	CTCF	chr10:45485845-45486112	HepG2	liver:	n/a	n/a
46	CEBPB	chr10:45485622-45486040	HepG2	liver:	n/a	chr10:45485794-45485805
47	CTCF	chr10:45485920-45486070	AG09319	gingival:	n/a	n/a
48	POLR2A	chr10:45485765-45486055	HepG2	liver:	n/a	n/a
49	RAD21	chr10:45485808-45486099	SK-N-SH_RA	brain:	n/a	n/a
50	JUND	chr10:45485528-45486194	H1-hESC	embryonic stem cell:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:45452890..45456408-chr10:45484181..45487033,3	MCF-7	breast:
2	chr10:45426643..45429443-chr10:45484154..45486322,2	MCF-7	breast:

No data

Variant related genes	Relation type
RASSF4	TF binding region
ENSG00000224812	Chromatin interaction
ENSG00000187783	Chromatin interaction
ENSG00000107551	Chromatin interaction
ENSG00000273363	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11239303	1.00[EUR][1000 genomes]
rs11239305	1.00[EUR][1000 genomes]
rs11239307	0.97[EUR][1000 genomes]
rs11239308	0.97[EUR][1000 genomes]
rs11239309	0.94[EUR][1000 genomes]
rs11239311	0.91[EUR][1000 genomes]
rs11239315	0.91[EUR][1000 genomes]
rs11239319	0.91[EUR][1000 genomes]
rs11239323	0.91[EUR][1000 genomes]
rs11239324	0.91[EUR][1000 genomes]
rs11239342	0.91[EUR][1000 genomes]
rs11239343	0.91[EUR][1000 genomes]
rs11239345	0.91[EUR][1000 genomes]
rs11239346	0.91[EUR][1000 genomes]
rs12354652	0.91[EUR][1000 genomes]
rs12358699	0.91[EUR][1000 genomes]
rs12359377	0.91[EUR][1000 genomes]
rs17157322	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3740092	0.91[EUR][1000 genomes]
rs3740093	0.91[EUR][1000 genomes]
rs41301599	0.95[ASN][1000 genomes]
rs41301601	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs41301609	0.94[EUR][1000 genomes]
rs41301611	0.94[EUR][1000 genomes]
rs41306544	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs41306546	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59381196	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831846	chr10:45322236-45556370	Bivalent Enhancer Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv526734	chr10:45458485-45492054	Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:45474400-45490800	Strong transcription	Primary monocytes fromperipheralblood	blood
2	chr10:45474400-45490800	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr10:45474800-45490200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr10:45476800-45487400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr10:45476800-45491400	Weak transcription	Fetal Kidney	kidney
6	chr10:45477400-45487400	Weak transcription	Fetal Intestine Large	intestine
7	chr10:45477800-45488200	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr10:45477800-45489400	Strong transcription	Duodenum Mucosa	Duodenum
9	chr10:45478000-45486400	Weak transcription	Colonic Mucosa	Colon
10	chr10:45478200-45487600	Weak transcription	Psoas Muscle	Psoas
11	chr10:45478400-45486600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr10:45478400-45489000	Weak transcription	NHDF-Ad	bronchial
13	chr10:45478800-45489200	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr10:45478800-45495800	Weak transcription	HMEC	breast
15	chr10:45480800-45487400	Weak transcription	Gastric	stomach
16	chr10:45480800-45489400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr10:45481200-45486000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr10:45481200-45489200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr10:45481600-45486600	Weak transcription	Brain Germinal Matrix	brain
20	chr10:45482000-45486400	Strong transcription	Brain Hippocampus Middle	brain
21	chr10:45482000-45488400	Strong transcription	HSMMtube	muscle
22	chr10:45482000-45489200	Weak transcription	HUVEC	blood vessel
23	chr10:45482200-45490800	Weak transcription	GM12878-XiMat	blood
24	chr10:45482200-45491200	Weak transcription	Fetal Lung	lung
25	chr10:45482400-45495600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr10:45482600-45486600	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr10:45482600-45488800	Weak transcription	Primary hematopoietic stem cells	blood
28	chr10:45482800-45486000	Strong transcription	Primary neutrophils fromperipheralblood	blood
29	chr10:45482800-45486800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr10:45482800-45489000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr10:45483200-45486600	Strong transcription	Stomach Smooth Muscle	stomach
32	chr10:45483200-45487600	Weak transcription	Aorta	Aorta
33	chr10:45483400-45486000	Strong transcription	Brain Anterior Caudate	brain
34	chr10:45483400-45486400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr10:45483400-45488800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr10:45483600-45486800	Strong transcription	Brain Cingulate Gyrus	brain
37	chr10:45484000-45486600	Strong transcription	Skeletal Muscle Female	skeletal muscle
38	chr10:45484000-45487800	Enhancers	H1 Cell Line	embryonic stem cell
39	chr10:45484000-45488200	Strong transcription	Spleen	Spleen
40	chr10:45484000-45489200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr10:45484000-45490400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr10:45484000-45491000	Genic enhancers	Left Ventricle	heart
43	chr10:45484200-45486200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr10:45484200-45488000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
45	chr10:45484200-45494200	Enhancers	Right Atrium	heart
46	chr10:45484400-45487400	Enhancers	iPS-18 Cell Line	embryonic stem cell
47	chr10:45484400-45490800	Genic enhancers	Fetal Muscle Leg	muscle
48	chr10:45484600-45486000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr10:45484600-45486400	Enhancers	Fetal Thymus	thymus
50	chr10:45484600-45488000	Enhancers	iPS-15b Cell Line	embryonic stem cell

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