Variant report

Variant	rs74346709
Chromosome Location	chr12:124459537-124459538
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:61)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr12:124455887-124459788	SK-N-SH	brain:	n/a	n/a
2	GATA3	chr12:124459408-124459614	SH-SY5Y	brain:	n/a	n/a
3	STAT3	chr12:124459435-124459545	MCF10A-Er-Src	breast:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:124459490-124459540	HNPCEpiC	eye:	n/a
2	chr12:124459490-124459540	CMK	blood:	n/a
3	chr12:124459490-124459540	GM19239	blood:	n/a
4	chr12:124459490-124459540	AoSMC	blood vessel:	n/a
5	chr12:124459490-124459540	PFSK-1	brain:	n/a
6	chr12:124459490-124459540	NH-A	brain:	n/a
7	chr12:124459490-124459540	AG09319	gingival:	n/a
8	chr12:124459490-124459540	HRE	kidney:	n/a
9	chr12:124459490-124459540	NB4	blood:	n/a
10	chr12:124459490-124459540	HIPEpiC	eye:	n/a
11	chr12:124459490-124459540	BE2_C	brain:	n/a
12	chr12:124459490-124459540	AG10803	skin:	n/a
13	chr12:124459490-124459540	U87	brain:	n/a
14	chr12:124459490-124459540	AG04449	skin:	fetal
15	chr12:124459490-124459540	HepG2	liver:	n/a
16	chr12:124459490-124459540	GM12892	blood:	n/a
17	chr12:124459490-124459540	Jurkat	blood:	n/a
18	chr12:124459490-124459540	HMEC	breast:	n/a
19	chr12:124459490-124459540	LNCaP	prostate:	n/a
20	chr12:124459490-124459540	HEEpiC	esophagus:	n/a
21	chr12:124459490-124459540	SK-N-MC	brain:	n/a
22	chr12:124459490-124459540	PrEC	prostate:	n/a
23	chr12:124459490-124459540	SAEC	small airway:	n/a
24	chr12:124459490-124459540	MCF10A-Er-Src	breast:	n/a
25	chr12:124459490-124459540	HRCEpiC	kidney:	n/a
26	chr12:124459490-124459540	Hepatocyte	liver:	n/a
27	chr12:124459490-124459540	HAEpiC	amniotic membrane:	n/a
28	chr12:124459490-124459540	HCPEpiC	choroid plexus:	n/a
29	chr12:124459490-124459540	H1-hESC	embryonic stem cell:	embryo
30	chr12:124459490-124459540	SK-N-SH_RA	brain:	n/a
31	chr12:124459490-124459540	Caco-2	colon:	n/a
32	chr12:124459490-124459540	NHBE	bronchial:	n/a
33	chr12:124459490-124459540	HCF	heart:	n/a
34	chr12:124459490-124459540	BJ	skin:	n/a
35	chr12:124459490-124459540	SK-N-SH	brain:	n/a
36	chr12:124459490-124459540	HCT-116	colon:	n/a
37	chr12:124459490-124459540	ECC-1	luminal epithelium:	n/a
38	chr12:124459490-124459540	HL-60	blood:	n/a
39	chr12:124459490-124459540	GM12891	blood:	n/a
40	chr12:124459490-124459540	ProgFib	skin:	n/a
41	chr12:124459490-124459540	HPAEpiC	pulmonary alveolar:	n/a
42	chr12:124459490-124459540	IMR90	lung:	fetal
43	chr12:124459490-124459540	NHDF-neo	bronchial:	n/a
44	chr12:124459490-124459540	NT2-D1	testis:	n/a
45	chr12:124459490-124459540	A549	lung:	n/a
46	chr12:124459490-124459540	HCM	heart:	n/a
47	chr12:124459490-124459540	Hela-S3	cervix:	n/a
48	chr12:124459490-124459540	GM06990	blood:	n/a
49	chr12:124459490-124459540	T-47D	breast:	n/a
50	chr12:124459490-124459540	SKMC	muscle:	n/a

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:124442245..124448648-chr12:124455013..124459797,7	K562	blood:
2	chr12:124443831..124448109-chr12:124456314..124459797,5	K562	blood:
3	chr12:124137852..124140530-chr12:124458317..124460698,2	K562	blood:
4	chr12:124450327..124455412-chr12:124455418..124460730,10	K562	blood:
5	chr12:124116659..124120709-chr12:124455290..124460616,5	K562	blood:

No data

Variant related genes	Relation type
ENSG00000270095	TF binding region
CCDC92	TF binding region
ENSG00000270061	TF binding region
ENSG00000270095	CpG island
ENSG00000270061	CpG island
CCDC92	CpG island
ENSG00000270048	Chromatin interaction
ENSG00000270061	Chromatin interaction
ENSG00000269938	Chromatin interaction
ENSG00000269997	Chromatin interaction
ENSG00000270130	Chromatin interaction
ENSG00000111361	Chromatin interaction
ENSG00000111358	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv498024	chr12:123994372-124459856	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	esv3493374	chr12:124458433-124496012	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	esv3493363	chr12:124458497-124495976	Strong transcription Genic enhancers Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	esv3493385	chr12:124458565-124495928	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:124454600-124459800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr12:124458400-124459600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr12:124458400-124459800	Flanking Active TSS	Dnd41	blood
4	chr12:124458600-124459600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
5	chr12:124458600-124459600	Transcr. at gene 5' and 3'	Rectal Mucosa Donor 29	rectum
6	chr12:124458600-124459600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
7	chr12:124458600-124459600	Flanking Active TSS	Osteobl	bone
8	chr12:124458600-124459800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr12:124458600-124459800	Flanking Active TSS	Fetal Brain Female	brain
10	chr12:124458800-124459600	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
11	chr12:124458800-124459600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr12:124458800-124459600	Enhancers	Primary T killer memory cells from peripheral blood	blood
13	chr12:124458800-124459600	Flanking Active TSS	Hela-S3	cervix
14	chr12:124458800-124459800	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr12:124458800-124459800	Flanking Active TSS	Fetal Lung	lung
16	chr12:124458800-124460200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr12:124458800-124460800	Weak transcription	Aorta	Aorta
18	chr12:124458800-124465600	Weak transcription	Psoas Muscle	Psoas
19	chr12:124458800-124466600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr12:124458800-124466600	Weak transcription	Spleen	Spleen
21	chr12:124459000-124459600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr12:124459000-124459600	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr12:124459000-124459600	Enhancers	Liver	Liver
24	chr12:124459000-124459600	Enhancers	Brain Hippocampus Middle	brain
25	chr12:124459000-124459600	Enhancers	Fetal Muscle Leg	muscle
26	chr12:124459000-124459800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
27	chr12:124459000-124459800	Enhancers	Primary T helper cells fromperipheralblood	blood
28	chr12:124459000-124459800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr12:124459000-124459800	Enhancers	Colon Smooth Muscle	Colon
30	chr12:124459000-124459800	Flanking Active TSS	Fetal Intestine Small	intestine
31	chr12:124459000-124459800	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
32	chr12:124459000-124460000	Enhancers	Primary T helper cells PMA-I stimulated	--
33	chr12:124459000-124460000	Weak transcription	Fetal Muscle Trunk	muscle
34	chr12:124459000-124460200	Enhancers	Small Intestine	intestine
35	chr12:124459000-124460600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr12:124459000-124460600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr12:124459000-124460600	Weak transcription	Lung	lung
38	chr12:124459000-124464200	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr12:124459000-124465800	Weak transcription	Left Ventricle	heart
40	chr12:124459000-124466000	Weak transcription	Right Ventricle	heart
41	chr12:124459000-124468400	Weak transcription	Ovary	ovary
42	chr12:124459000-124470800	Weak transcription	Primary B cells from peripheral blood	blood
43	chr12:124459000-124470800	Weak transcription	Stomach Smooth Muscle	stomach
44	chr12:124459000-124472200	Weak transcription	Primary T cells fromperipheralblood	blood
45	chr12:124459000-124472600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr12:124459000-124472800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr12:124459000-124473400	Weak transcription	Esophagus	oesophagus
48	chr12:124459200-124459600	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
49	chr12:124459200-124459600	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
50	chr12:124459200-124459600	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell

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