Variant report

Variant	rs116162733
Chromosome Location	chr12:26124415-26124416
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:46)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:46 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr12:26124400-26124550	HCFaa	heart:	n/a	n/a
2	CTCF	chr12:26124320-26124470	SAEC	small airway:	n/a	n/a
3	CTCF	chr12:26124320-26124470	BJ	skin:	n/a	n/a
4	CTCF	chr12:26124340-26124490	GM12873	blood:	n/a	n/a
5	CTCF	chr12:26124400-26124550	AG10803	skin:	n/a	n/a
6	CTCF	chr12:26124380-26124530	HRE	kidney:	n/a	n/a
7	CTCF	chr12:26124400-26124550	AoAF	blood vessel:	n/a	n/a
8	CTCF	chr12:26124340-26124490	AG04449	skin:	n/a	n/a
9	CTCF	chr12:26124360-26124510	HBMEC	blood vessel:	n/a	n/a
10	CTCF	chr12:26124320-26124470	HEK293	kidney:	n/a	n/a
11	CTCF	chr12:26124380-26124530	MCF-7	breast:	n/a	n/a
12	CTCF	chr12:26124340-26124490	HRPEpiC	eye:	n/a	n/a
13	CTCF	chr12:26124400-26124550	BJ	skin:	n/a	n/a
14	CTCF	chr12:26124380-26124530	HPF	lung:	n/a	n/a
15	CTCF	chr12:26124380-26124530	HCM	heart:	n/a	n/a
16	CTCF	chr12:26124300-26124450	MCF-7	breast:	n/a	n/a
17	CTCF	chr12:26124380-26124530	HPAF	blood vessel:	n/a	n/a
18	CTCF	chr12:26124380-26124530	A549	lung:	n/a	n/a
19	CTCF	chr12:26124400-26124550	HPF	lung:	n/a	n/a
20	CTCF	chr12:26124300-26124450	BE2_C	brain:	n/a	n/a
21	CTCF	chr12:26124360-26124510	AG09319	gingival:	n/a	n/a
22	CTCF	chr12:26124400-26124550	HUVEC	blood vessel:	n/a	n/a
23	CTCF	chr12:26124280-26124430	RPTEC	kidney:	n/a	n/a
24	CTCF	chr12:26124400-26124550	HRPEpiC	eye:	n/a	n/a
25	CTCF	chr12:26124380-26124530	NHLF	lung:	n/a	n/a
26	CTCF	chr12:26124400-26124550	WI-38	lung:	n/a	n/a
27	CTCF	chr12:26124400-26124550	NHDF-neo	bronchial:	n/a	n/a
28	CTCF	chr12:26124380-26124530	HCPEpiC	choroid plexus:	n/a	n/a
29	CTCF	chr12:26124400-26124550	HA-sp	spinal cord:	n/a	n/a
30	CTCF	chr12:26124360-26124510	HVMF	connective:	n/a	n/a
31	CTCF	chr12:26124301-26124617	IMR90	lung:	n/a	n/a
32	CTCF	chr12:26124400-26124550	HFF	foreskin:	n/a	n/a
33	CTCF	chr12:26124380-26124530	HMEC	breast:	n/a	n/a
34	CTCF	chr12:26124380-26124530	Caco-2	colon:	n/a	n/a
35	CTCF	chr12:26124400-26124550	AG04449	skin:	n/a	n/a
36	CTCF	chr12:26124320-26124470	Hela-S3	cervix:	n/a	n/a
37	CTCF	chr12:26124340-26124490	BE2_C	brain:	n/a	n/a
38	CTCF	chr12:26124380-26124530	NHEK	skin:	n/a	n/a
39	CTCF	chr12:26124360-26124510	AG10803	skin:	n/a	n/a
40	CTCF	chr12:26124400-26124550	HCT-116	colon:	n/a	n/a
41	CTCF	chr12:26124400-26124550	HMF	breast:	n/a	n/a
42	CTCF	chr12:26124340-26124490	AG09309	skin:	n/a	n/a
43	CTCF	chr12:26124400-26124550	HAc	cerebellar:	n/a	n/a
44	CTCF	chr12:26124380-26124530	AG09309	skin:	n/a	n/a
45	CTCF	chr12:26124360-26124510	HPAF	blood vessel:	n/a	n/a
46	CTCF	chr12:26124380-26124530	AG04450	lung:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:26111209..26114170-chr12:26124306..26125850,2	MCF-7	breast:

No data

Variant related genes	Relation type
RASSF8	TF binding region
ENSG00000246695	Chromatin interaction
ENSG00000123094	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758300	chr12:25992331-26161116	Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
2	esv2759886	chr12:25992331-26161116	Enhancers Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
3	nsv898931	chr12:26123345-26192936	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:26113400-26126200	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr12:26113400-26128800	Weak transcription	HSMM	muscle
3	chr12:26114000-26126600	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr12:26114000-26128000	Weak transcription	Fetal Intestine Small	intestine
5	chr12:26114200-26125600	Weak transcription	HMEC	breast
6	chr12:26115000-26127800	Weak transcription	Fetal Kidney	kidney
7	chr12:26116600-26124600	Weak transcription	NHLF	lung
8	chr12:26117000-26126200	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr12:26117200-26130200	Weak transcription	Fetal Heart	heart
10	chr12:26117400-26126600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr12:26117600-26150000	Weak transcription	Hela-S3	cervix
12	chr12:26118400-26131600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr12:26119600-26130200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr12:26120000-26125000	Enhancers	Brain Anterior Caudate	brain
15	chr12:26120000-26127400	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr12:26120200-26124600	Enhancers	Brain Substantia Nigra	brain
17	chr12:26120600-26125000	Enhancers	Ovary	ovary
18	chr12:26120600-26125000	Enhancers	Psoas Muscle	Psoas
19	chr12:26121000-26131600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr12:26121200-26126200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr12:26121200-26129600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr12:26121600-26124800	Enhancers	HUVEC	blood vessel
23	chr12:26121800-26125000	Enhancers	Right Atrium	heart
24	chr12:26122000-26125000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr12:26122200-26125000	Enhancers	NH-A	brain
26	chr12:26122200-26126200	Weak transcription	Brain Cingulate Gyrus	brain
27	chr12:26122400-26126200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr12:26122400-26128200	Enhancers	Osteobl	bone
29	chr12:26122600-26126800	Enhancers	Muscle Satellite Cultured Cells	--
30	chr12:26122600-26127200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr12:26122800-26125200	Enhancers	Aorta	Aorta
32	chr12:26123000-26124800	Enhancers	iPS-20b Cell Line	embryonic stem cell
33	chr12:26123200-26124600	Enhancers	Skeletal Muscle Female	skeletal muscle
34	chr12:26123200-26127000	Enhancers	Skeletal Muscle Male	skeletal muscle
35	chr12:26123400-26125000	Enhancers	Adipose Nuclei	Adipose
36	chr12:26123400-26125000	Enhancers	Fetal Muscle Leg	muscle
37	chr12:26123400-26129400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr12:26123600-26124800	Enhancers	Fetal Lung	lung
39	chr12:26123600-26125000	Enhancers	Left Ventricle	heart
40	chr12:26123600-26125000	Enhancers	Pancreas	Pancrea
41	chr12:26123600-26125200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr12:26123800-26125000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr12:26123800-26128800	Weak transcription	Spleen	Spleen
44	chr12:26123800-26129000	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr12:26123800-26129200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr12:26123800-26134000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr12:26123800-26134200	Weak transcription	Gastric	stomach
48	chr12:26123800-26137200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr12:26124000-26124600	Enhancers	HUES64 Cell Line	embryonic stem cell
50	chr12:26124000-26125000	Enhancers	Fetal Stomach	stomach

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