Variant report

Variant	rs4785523
Chromosome Location	chr16:48609155-48609156
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:48607171..48609962-chr16:48643575..48646048,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000102921	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs1039340	0.81[JPT][hapmap]
rs1039342	0.81[JPT][hapmap]
rs1039344	0.81[JPT][hapmap]
rs11076572	0.81[JPT][hapmap]
rs11076574	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1120275	0.81[JPT][hapmap]
rs1120276	0.81[JPT][hapmap]
rs11647048	0.81[JPT][hapmap]
rs11649236	0.81[JPT][hapmap]
rs1224	0.81[JPT][hapmap]
rs12443672	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12443883	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12597314	0.82[EUR][1000 genomes]
rs1486411	0.81[JPT][hapmap]
rs1825684	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1906047	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3743778	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3743779	0.81[JPT][hapmap]
rs3817029	0.81[JPT][hapmap]
rs3843724	0.80[JPT][hapmap]
rs4785522	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4785524	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55987128	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61268951	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6500395	0.81[JPT][hapmap]
rs7188741	0.81[JPT][hapmap]
rs7196823	0.81[JPT][hapmap]
rs8052640	0.81[JPT][hapmap]
rs8059905	0.81[JPT][hapmap]
rs904818	0.81[JPT][hapmap]
rs989070	0.81[JPT][hapmap]
rs9922734	0.81[JPT][hapmap]
rs9930199	0.81[JPT][hapmap]
rs9931123	0.81[JPT][hapmap]
rs9931737	0.81[JPT][hapmap]
rs9933976	0.81[JPT][hapmap]
rs9934626	0.81[JPT][hapmap]
rs9936445	0.80[JPT][hapmap]
rs9937568	0.81[JPT][hapmap]
rs9939103	0.81[JPT][hapmap]
rs9941275	0.81[JPT][hapmap]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4785523	ABCC12	cis	parietal	SCAN

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:48583800-48617800	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr16:48589400-48609400	Weak transcription	Thymus	Thymus
3	chr16:48589400-48609600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr16:48591200-48611400	Weak transcription	Fetal Intestine Small	intestine
5	chr16:48591200-48611600	Weak transcription	Fetal Brain Female	brain
6	chr16:48591400-48617200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr16:48592600-48613400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr16:48592800-48611000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr16:48594000-48617800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr16:48595200-48609600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr16:48595200-48624000	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr16:48595800-48609600	Weak transcription	Rectal Smooth Muscle	rectum
13	chr16:48595800-48610600	Weak transcription	Primary B cells from cord blood	blood
14	chr16:48596000-48609400	Weak transcription	Fetal Thymus	thymus
15	chr16:48596000-48613600	Weak transcription	Fetal Intestine Large	intestine
16	chr16:48596000-48624400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr16:48596200-48610800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr16:48596200-48612800	Weak transcription	Fetal Muscle Trunk	muscle
19	chr16:48596200-48612800	Weak transcription	Placenta	Placenta
20	chr16:48596200-48615200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr16:48596400-48609600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr16:48596400-48610600	Weak transcription	Primary B cells from peripheral blood	blood
23	chr16:48596400-48611800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr16:48596400-48613400	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr16:48596400-48615000	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr16:48596400-48617200	Weak transcription	NH-A	brain
27	chr16:48596600-48612200	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr16:48596800-48609400	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr16:48596800-48610600	Weak transcription	HSMM	muscle
30	chr16:48596800-48624400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr16:48600800-48609600	Weak transcription	Monocytes-CD14+_RO01746	blood
32	chr16:48601200-48610600	Weak transcription	HepG2	liver
33	chr16:48602000-48611600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr16:48603000-48614200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr16:48603400-48611000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr16:48604000-48609400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr16:48604000-48609400	Weak transcription	Esophagus	oesophagus
38	chr16:48604000-48609600	Weak transcription	Primary neutrophils fromperipheralblood	blood
39	chr16:48604000-48611400	Weak transcription	Fetal Stomach	stomach
40	chr16:48604200-48610200	Weak transcription	Primary monocytes fromperipheralblood	blood
41	chr16:48604400-48611800	Weak transcription	Fetal Muscle Leg	muscle
42	chr16:48604800-48611600	Enhancers	Primary T helper cells PMA-I stimulated	--
43	chr16:48605000-48609400	Weak transcription	Lung	lung
44	chr16:48605000-48613000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
45	chr16:48605000-48613200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr16:48605000-48630200	Weak transcription	Spleen	Spleen
47	chr16:48605200-48612400	Enhancers	Primary T helper cells fromperipheralblood	blood
48	chr16:48605400-48613400	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr16:48605800-48610600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr16:48606000-48611200	Enhancers	Primary T cells from cord blood	blood

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