Variant report

Variant	rs112579172
Chromosome Location	chr10:4555241-4555242
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:196)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:196 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr10:4555055-4555324	HUVEC	blood vessel:	n/a	n/a
2	RAD21	chr10:4555057-4555433	HepG2	liver:	n/a	n/a
3	CTCF	chr10:4555140-4555290	HCT-116	colon:	n/a	n/a
4	CTCF	chr10:4555160-4555310	GM12867	blood:	n/a	n/a
5	CTCF	chr10:4555100-4555250	HPF	lung:	n/a	n/a
6	CTCF	chr10:4555140-4555290	AoAF	blood vessel:	n/a	n/a
7	CTCF	chr10:4555140-4555290	GM12868	blood:	n/a	n/a
8	CTCF	chr10:4555102-4555267	SK-N-SH_RA	brain:	n/a	n/a
9	POLR2A	chr10:4554786-4555449	SK-N-SH	brain:	n/a	n/a
10	STAT3	chr10:4555095-4555442	MCF10A-Er-Src	breast:	n/a	n/a
11	POLR2A	chr10:4554779-4555268	MCF10A-Er-Src	breast:	n/a	n/a
12	TCF12	chr10:4554618-4555615	SK-N-SH	brain:	n/a	n/a
13	CTCF	chr10:4555140-4555290	HEEpiC	esophagus:	n/a	n/a
14	CTCF	chr10:4554926-4555458	A549	lung:	n/a	chr10:4555398-4555407
15	FOS	chr10:4555184-4555290	MCF10A-Er-Src	breast:	n/a	n/a
16	CTCF	chr10:4555160-4555310	GM12875	blood:	n/a	n/a
17	CTCF	chr10:4555120-4555270	WERI-Rb-1	eye:	n/a	n/a
18	RAD21	chr10:4555040-4555354	HepG2	liver:	n/a	n/a
19	CTCF	chr10:4555140-4555290	GM12873	blood:	n/a	n/a
20	CTCF	chr10:4555092-4555331	Kidney_OC	kidney:	n/a	n/a
21	CTCF	chr10:4555172-4555269	GM12892	blood:	n/a	n/a
22	CTCF	chr10:4555120-4555270	AG10803	skin:	n/a	n/a
23	CTCF	chr10:4555120-4555270	HBMEC	blood vessel:	n/a	n/a
24	CEBPB	chr10:4554806-4555358	Hela-S3	cervix:	n/a	n/a
25	RAD21	chr10:4555068-4555464	SK-N-SH_RA	brain:	n/a	n/a
26	RAD21	chr10:4555026-4555442	H1-hESC	embryonic stem cell:	n/a	n/a
27	STAT3	chr10:4555162-4555288	MCF10A-Er-Src	breast:	n/a	n/a
28	CTCF	chr10:4555104-4555311	Pancreas_OC	pancreas:	n/a	n/a
29	CTCF	chr10:4555100-4555250	GM12864	blood:	n/a	n/a
30	YY1	chr10:4555087-4555288	HCT-116	colon:	n/a	n/a
31	CTCF	chr10:4555099-4555272	A549	lung:	n/a	n/a
32	CTCF	chr10:4555120-4555270	GM12874	blood:	n/a	n/a
33	CTCF	chr10:4555200-4555350	Hela-S3	cervix:	n/a	n/a
34	CEBPB	chr10:4554851-4555290	IMR90	lung:	n/a	n/a
35	CTCF	chr10:4555028-4555336	K562	blood:	n/a	n/a
36	RAD21	chr10:4554979-4555435	MCF-7	breast:	n/a	n/a
37	CTCF	chr10:4555140-4555290	HMF	breast:	n/a	n/a
38	CTCF	chr10:4555200-4555350	NHEK	skin:	n/a	n/a
39	RAD21	chr10:4554942-4555501	A549	lung:	n/a	n/a
40	CTCF	chr10:4555146-4555265	GM13977	blood:	n/a	n/a
41	STAT3	chr10:4555131-4555331	MCF10A-Er-Src	breast:	n/a	n/a
42	CTCF	chr10:4555120-4555270	NHLF	lung:	n/a	n/a
43	CTCF	chr10:4555120-4555270	HEEpiC	esophagus:	n/a	n/a
44	CTCF	chr10:4555140-4555290	GM06990	blood:	n/a	n/a
45	CTCF	chr10:4555032-4555523	HCT-116	colon:	n/a	chr10:4555398-4555407
46	CTCF	chr10:4555107-4555338	A549	lung:	n/a	n/a
47	RAD21	chr10:4555116-4555337	GM12878	blood:	n/a	n/a
48	FOS	chr10:4554894-4555268	MCF10A-Er-Src	breast:	n/a	n/a
49	CTCF	chr10:4555100-4555250	SK-N-SH_RA	brain:	n/a	n/a
50	TCF12	chr10:4554683-4555618	SK-N-SH	brain:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:4554841..4555595-chr10:4693003..4693874,4	MCF-7	breast:
2	chr10:4554890..4555444-chr10:4808771..4809867,3	MCF-7	breast:
3	chr10:4554774..4555300-chr10:4623885..4624517,2	MCF-7	breast:
4	chr10:4216515..4217122-chr10:4555119..4555688,2	MCF-7	breast:
5	chr10:4554517..4555692-chr10:4698473..4699407,4	MCF-7	breast:
6	chr10:4555087..4556892-chr10:4807552..4809332,2	MCF-7	breast:
7	chr10:4554314..4555272-chr10:4813439..4814001,3	MCF-7	breast:
8	chr10:4554964..4555693-chr10:4698445..4699397,2	MCF-7	breast:
9	chr10:4554767..4555670-chr10:4691719..4692590,2	MCF-7	breast:

No data

Variant related genes	Relation type
RNU6-163P	TF binding region
ENSG00000231298	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv894787	chr10:4385379-4857717	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv1041785	chr10:4507158-4564194	Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv522046	chr10:4538492-4570425	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv549862	chr10:4554018-4593307	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv1040910	chr10:4554674-4606939	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:4552000-4556600	Weak transcription	Fetal Thymus	thymus
2	chr10:4553200-4555400	Enhancers	Fetal Lung	lung
3	chr10:4553200-4558400	Enhancers	NHDF-Ad	bronchial
4	chr10:4553600-4555800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr10:4554000-4555400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr10:4554200-4557200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr10:4554600-4555600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr10:4554600-4556200	Enhancers	Fetal Heart	heart
9	chr10:4554800-4555400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr10:4554800-4555400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr10:4554800-4555400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr10:4554800-4555400	Enhancers	Rectal Smooth Muscle	rectum
13	chr10:4554800-4555400	Enhancers	HMEC	breast
14	chr10:4554800-4555400	Enhancers	NHEK	skin
15	chr10:4554800-4556600	Enhancers	Left Ventricle	heart
16	chr10:4555000-4555400	Enhancers	Muscle Satellite Cultured Cells	--
17	chr10:4555000-4555400	Flanking Active TSS	Adipose Nuclei	Adipose
18	chr10:4555000-4555400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr10:4555000-4555400	Enhancers	Fetal Kidney	kidney
20	chr10:4555000-4555400	Enhancers	Fetal Stomach	stomach
21	chr10:4555000-4555400	Enhancers	Skeletal Muscle Male	skeletal muscle
22	chr10:4555000-4555400	Enhancers	A549	lung
23	chr10:4555000-4555400	Enhancers	NH-A	brain
24	chr10:4555000-4555400	Flanking Active TSS	Osteobl	bone
25	chr10:4555000-4556000	Enhancers	Monocytes-CD14+_RO01746	blood
26	chr10:4555000-4556400	Enhancers	Colon Smooth Muscle	Colon
27	chr10:4555000-4558400	Enhancers	Primary monocytes fromperipheralblood	blood
28	chr10:4555200-4555400	Enhancers	Colonic Mucosa	Colon
29	chr10:4555200-4555400	Enhancers	Fetal Muscle Trunk	muscle
30	chr10:4555200-4555400	Enhancers	Fetal Muscle Leg	muscle
31	chr10:4555200-4555400	Enhancers	Placenta	Placenta
32	chr10:4555200-4555400	Enhancers	Pancreas	Pancrea
33	chr10:4555200-4556400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr10:4555200-4556400	Weak transcription	NHLF	lung
35	chr10:4555200-4556600	Weak transcription	Stomach Smooth Muscle	stomach
36	chr10:4555200-4558000	Enhancers	Spleen	Spleen

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