Variant report

Variant	rs74094742
Chromosome Location	chr12:56841736-56841737
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:56751886..56753976-chr12:56841675..56844416,2	MCF-7	breast:
2	chr12:56839562..56844740-chr12:56860089..56866019,9	MCF-7	breast:
3	chr12:56841673..56844476-chr12:56882161..56884243,2	MCF-7	breast:
4	chr12:56841526..56846188-chr12:56861608..56864760,4	K562	blood:
5	chr12:56815165..56817428-chr12:56841549..56843141,2	MCF-7	breast:
6	chr12:56836758..56838367-chr12:56840273..56842942,2	K562	blood:
7	chr12:56753203..56755632-chr12:56841567..56843289,3	MCF-7	breast:
8	chr12:56707797..56709815-chr12:56841516..56843203,2	MCF-7	breast:
9	chr12:56838620..56841203-chr12:56841279..56843088,2	MCF-7	breast:
10	chr12:56693766..56695727-chr12:56841370..56844312,2	K562	blood:
11	chr12:56827122..56829878-chr12:56841273..56843034,2	K562	blood:
12	chr12:56753916..56755760-chr12:56841528..56845904,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000176422	Chromatin interaction
ENSG00000135423	Chromatin interaction
ENSG00000135517	Chromatin interaction
ENSG00000144785	Chromatin interaction
ENSG00000062485	Chromatin interaction
ENSG00000111602	Chromatin interaction
ENSG00000170581	Chromatin interaction
ENSG00000257727	Chromatin interaction
ENSG00000257303	Chromatin interaction

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

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

rs_ID	r²[population]
rs17118651	0.83[AFR][1000 genomes]
rs17118655	0.83[AFR][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	nsv1043622	chr12:56571476-56974448	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
2	nsv541500	chr12:56571476-56974448	Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:56811800-56842400	Weak transcription	Colon Smooth Muscle	Colon
2	chr12:56813000-56842600	Weak transcription	Fetal Heart	heart
3	chr12:56813800-56842400	Weak transcription	Right Atrium	heart
4	chr12:56816200-56842400	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr12:56825400-56842000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr12:56826200-56842400	Weak transcription	NH-A	brain
7	chr12:56826400-56841800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr12:56826400-56842200	Weak transcription	HSMM	muscle
9	chr12:56826400-56842400	Weak transcription	NHDF-Ad	bronchial
10	chr12:56827200-56842600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr12:56827800-56841800	Weak transcription	Primary B cells from cord blood	blood
12	chr12:56827800-56841800	Weak transcription	Lung	lung
13	chr12:56827800-56842200	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr12:56827800-56842400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr12:56827800-56842400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr12:56827800-56842400	Weak transcription	Fetal Muscle Leg	muscle
17	chr12:56827800-56842400	Weak transcription	Fetal Stomach	stomach
18	chr12:56827800-56842400	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr12:56827800-56842600	Weak transcription	Spleen	Spleen
20	chr12:56828000-56842200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr12:56828000-56842400	Weak transcription	Fetal Thymus	thymus
22	chr12:56828000-56842400	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr12:56828000-56842400	Weak transcription	Thymus	Thymus
24	chr12:56836600-56842400	Weak transcription	HMEC	breast
25	chr12:56837000-56842600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr12:56837600-56842400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr12:56838000-56841800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr12:56838200-56842400	Weak transcription	NHEK	skin
29	chr12:56838400-56842400	Weak transcription	Primary hematopoietic stem cells	blood
30	chr12:56838600-56842000	Weak transcription	Fetal Intestine Large	intestine
31	chr12:56838600-56842400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr12:56838600-56842600	Weak transcription	Left Ventricle	heart
33	chr12:56838800-56842200	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr12:56838800-56842200	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr12:56838800-56842200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr12:56838800-56842400	Weak transcription	Fetal Intestine Small	intestine
37	chr12:56838800-56842400	Weak transcription	Placenta	Placenta
38	chr12:56839000-56842400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr12:56839800-56842200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr12:56841200-56841800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr12:56841200-56841800	Strong transcription	HUES48 Cell Line	embryonic stem cell
42	chr12:56841200-56841800	Enhancers	Primary hematopoietic stem cells short term culture	blood
43	chr12:56841200-56841800	Genic enhancers	A549	lung
44	chr12:56841200-56841800	Transcr. at gene 5' and 3'	Dnd41	blood
45	chr12:56841200-56841800	Enhancers	Hela-S3	cervix
46	chr12:56841200-56842000	Enhancers	iPS-18 Cell Line	embryonic stem cell
47	chr12:56841200-56842000	Flanking Active TSS	GM12878-XiMat	blood
48	chr12:56841200-56842200	Enhancers	HepG2	liver
49	chr12:56841200-56842400	Enhancers	HUVEC	blood vessel
50	chr12:56841400-56841800	Transcr. at gene 5' and 3'	HUES64 Cell Line	embryonic stem cell

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