Variant report

Variant	rs774040
Chromosome Location	chr12:56826061-56826062
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:56824331..56826996-chr12:56831647..56834552,3	K562	blood:
2	chr12:56823780..56826763-chr12:56843201..56845054,2	MCF-7	breast:
3	chr12:56825502..56827188-chr12:56829411..56831009,2	K562	blood:
4	chr12:56752705..56755590-chr12:56824655..56827546,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000170581	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11829345	1.00[ASN][1000 genomes]
rs12306723	1.00[TSI][hapmap]
rs12318580	1.00[TSI][hapmap]
rs12321709	1.00[TSI][hapmap]
rs2638312	0.88[ASW][hapmap];1.00[MEX][hapmap];0.80[AFR][1000 genomes]
rs2657881	1.00[TSI][hapmap]
rs2657914	1.00[TSI][hapmap]
rs61748694	1.00[EUR][1000 genomes]
rs61753653	1.00[EUR][1000 genomes]
rs774028	0.88[ASW][hapmap];1.00[MEX][hapmap];0.83[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs774030	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs774051	0.81[AMR][1000 genomes]
rs774052	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7958609	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:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:56799400-56831600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr12:56805800-56828200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:56806000-56831200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr12:56806800-56828200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr12:56807000-56827800	Strong transcription	Fetal Muscle Leg	muscle
6	chr12:56807200-56828200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
7	chr12:56807200-56829000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr12:56807400-56828000	Strong transcription	H1 Cell Line	embryonic stem cell
9	chr12:56807400-56828000	Strong transcription	HUES6 Cell Line	embryonic stem cell
10	chr12:56807600-56828000	Strong transcription	H9 Cell Line	embryonic stem cell
11	chr12:56807600-56828000	Strong transcription	HUES48 Cell Line	embryonic stem cell
12	chr12:56807600-56828000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
13	chr12:56807600-56828200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr12:56809200-56828000	Strong transcription	Fetal Thymus	thymus
15	chr12:56809200-56828600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr12:56809600-56828000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr12:56809800-56827400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
18	chr12:56809800-56827600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr12:56809800-56827800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr12:56809800-56827800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr12:56809800-56829000	Strong transcription	Dnd41	blood
22	chr12:56810000-56828000	Strong transcription	HUES64 Cell Line	embryonic stem cell
23	chr12:56810000-56828800	Weak transcription	Small Intestine	intestine
24	chr12:56810000-56829400	Weak transcription	Brain Substantia Nigra	brain
25	chr12:56810200-56828000	Strong transcription	A549	lung
26	chr12:56810200-56829400	Weak transcription	HSMMtube	muscle
27	chr12:56811400-56828200	Strong transcription	Primary B cells from peripheral blood	blood
28	chr12:56811800-56830400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr12:56811800-56842400	Weak transcription	Colon Smooth Muscle	Colon
30	chr12:56813000-56842600	Weak transcription	Fetal Heart	heart
31	chr12:56813200-56841200	Weak transcription	Fetal Kidney	kidney
32	chr12:56813600-56827200	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr12:56813800-56842400	Weak transcription	Right Atrium	heart
34	chr12:56814000-56827800	Strong transcription	NHEK	skin
35	chr12:56814000-56828000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr12:56816200-56842400	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr12:56816600-56836400	Weak transcription	HMEC	breast
38	chr12:56816800-56828600	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr12:56817400-56826400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr12:56817400-56828000	Weak transcription	Rectal Smooth Muscle	rectum
41	chr12:56817400-56829000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr12:56817600-56829400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr12:56817800-56827000	Weak transcription	Osteobl	bone
44	chr12:56818600-56829600	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr12:56818800-56833200	Weak transcription	Left Ventricle	heart
46	chr12:56819200-56829000	Weak transcription	Stomach Smooth Muscle	stomach
47	chr12:56819400-56829400	Weak transcription	Primary T helper cells fromperipheralblood	blood
48	chr12:56819600-56828800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
49	chr12:56820200-56829400	Weak transcription	Primary T helper cells PMA-I stimulated	--
50	chr12:56820600-56827000	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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