Variant report

Variant	rs60484388
Chromosome Location	chr12:56834695-56834696
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:56831091..56839552-chr12:56841407..56847301,11	K562	blood:
2	chr12:56831567..56836567-chr12:56841369..56843567,6	K562	blood:
3	chr12:56719599..56721723-chr12:56834630..56836801,2	MCF-7	breast:
4	chr12:56708497..56711440-chr12:56833927..56836738,2	K562	blood:

Variant related genes	Relation type
ENSG00000144785	Chromatin interaction
ENSG00000135473	Chromatin interaction
ENSG00000257727	Chromatin interaction
ENSG00000111602	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11575216	1.00[EUR][1000 genomes]
rs7303708	1.00[EUR][1000 genomes]
rs7304678	1.00[EUR][1000 genomes]
rs73326276	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9737784	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9739600	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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:56 , 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	chr12:56813200-56841200	Weak transcription	Fetal Kidney	kidney
4	chr12:56813800-56842400	Weak transcription	Right Atrium	heart
5	chr12:56816200-56842400	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr12:56816600-56836400	Weak transcription	HMEC	breast
7	chr12:56822600-56836000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr12:56822800-56836200	Weak transcription	Colonic Mucosa	Colon
9	chr12:56822800-56838000	Weak transcription	HUVEC	blood vessel
10	chr12:56825400-56842000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr12:56825800-56836600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr12:56826200-56842400	Weak transcription	NH-A	brain
13	chr12:56826400-56841800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr12:56826400-56842200	Weak transcription	HSMM	muscle
15	chr12:56826400-56842400	Weak transcription	NHDF-Ad	bronchial
16	chr12:56827200-56842600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr12:56827600-56836000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr12:56827800-56836000	Weak transcription	NHEK	skin
19	chr12:56827800-56836800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr12:56827800-56836800	Weak transcription	Fetal Intestine Small	intestine
21	chr12:56827800-56837800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr12:56827800-56841200	Weak transcription	HepG2	liver
23	chr12:56827800-56841800	Weak transcription	Primary B cells from cord blood	blood
24	chr12:56827800-56841800	Weak transcription	Lung	lung
25	chr12:56827800-56842200	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr12:56827800-56842400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr12:56827800-56842400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr12:56827800-56842400	Weak transcription	Fetal Muscle Leg	muscle
29	chr12:56827800-56842400	Weak transcription	Fetal Stomach	stomach
30	chr12:56827800-56842400	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr12:56827800-56842600	Weak transcription	Spleen	Spleen
32	chr12:56828000-56835000	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr12:56828000-56836000	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr12:56828000-56836000	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr12:56828000-56836200	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr12:56828000-56836400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr12:56828000-56841200	Weak transcription	A549	lung
38	chr12:56828000-56841200	Weak transcription	GM12878-XiMat	blood
39	chr12:56828000-56841400	Weak transcription	Liver	Liver
40	chr12:56828000-56842200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr12:56828000-56842400	Weak transcription	Fetal Thymus	thymus
42	chr12:56828000-56842400	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr12:56828000-56842400	Weak transcription	Thymus	Thymus
44	chr12:56828200-56836000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr12:56828200-56841200	Weak transcription	Hela-S3	cervix
46	chr12:56828600-56838400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr12:56828800-56836200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr12:56829000-56837400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr12:56829000-56838000	Weak transcription	Dnd41	blood
50	chr12:56831800-56837400	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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