Variant report

Variant	rs16949584
Chromosome Location	chr12:120153748-120153749
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr12:120153659-120154028	T-47D	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:120152234..120154211-chr12:120155623..120157163,2	K562	blood:
2	chr12:120147560..120151700-chr12:120152140..120156829,4	MCF-7	breast:
3	chr12:120152789..120154437-chr12:120157591..120159706,2	K562	blood:

Variant related genes	Relation type
MIR1178	TF binding region
CIT	TF binding region
ENSG00000122966	Chromatin interaction
ENSG00000221323	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs11064888	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1541345	0.81[ASN][1000 genomes]
rs17527257	1.00[CEU][hapmap]
rs17527306	1.00[CEU][hapmap]
rs2285594	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs278121	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs280586	1.00[CEU][hapmap]
rs35490437	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3759400	1.00[CHB][hapmap];0.85[JPT][hapmap];0.81[ASN][1000 genomes]
rs4269	0.94[ASN][1000 genomes]
rs55775618	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56074206	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56096252	0.94[ASN][1000 genomes]
rs56972459	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs59595036	0.87[ASN][1000 genomes]
rs61068064	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7136614	0.87[ASN][1000 genomes]
rs7297192	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs7297487	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7302793	0.87[ASN][1000 genomes]
rs7308115	0.94[ASN][1000 genomes]
rs7309710	0.94[ASN][1000 genomes]
rs7311975	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs73215355	0.94[ASN][1000 genomes]
rs73221264	0.81[ASN][1000 genomes]
rs73221268	0.81[ASN][1000 genomes]
rs7953527	0.93[EUR][1000 genomes]
rs9737704	0.81[ASN][1000 genomes]

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs16949584	ADAD2	trans	brain	seeQTL
rs16949584	INHBA	trans	brain	seeQTL

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120108200-120161000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:120116800-120201800	Weak transcription	Fetal Heart	heart
3	chr12:120121200-120173400	Weak transcription	Primary B cells from cord blood	blood
4	chr12:120122200-120160800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
5	chr12:120123400-120182000	Strong transcription	Dnd41	blood
6	chr12:120126000-120154000	Weak transcription	Right Ventricle	heart
7	chr12:120126600-120158000	Weak transcription	Colonic Mucosa	Colon
8	chr12:120130800-120182200	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr12:120131200-120154200	Weak transcription	Stomach Smooth Muscle	stomach
10	chr12:120131200-120161600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr12:120131600-120154400	Weak transcription	Small Intestine	intestine
12	chr12:120132800-120162000	Strong transcription	Primary neutrophils fromperipheralblood	blood
13	chr12:120134800-120154400	Strong transcription	HUES6 Cell Line	embryonic stem cell
14	chr12:120136000-120156000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr12:120137000-120159800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr12:120139600-120159600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr12:120141000-120159600	Strong transcription	Fetal Thymus	thymus
18	chr12:120142600-120154200	Weak transcription	HSMMtube	muscle
19	chr12:120142600-120154400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr12:120143600-120160200	Strong transcription	HUES64 Cell Line	embryonic stem cell
21	chr12:120143800-120159800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
22	chr12:120143800-120160800	Strong transcription	Thymus	Thymus
23	chr12:120143800-120211200	Weak transcription	Fetal Brain Male	brain
24	chr12:120144200-120160000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr12:120144400-120160200	Strong transcription	HUES48 Cell Line	embryonic stem cell
26	chr12:120144600-120159800	Strong transcription	H1 Cell Line	embryonic stem cell
27	chr12:120144800-120153800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr12:120144800-120159400	Strong transcription	Primary monocytes fromperipheralblood	blood
29	chr12:120145000-120154200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr12:120145000-120154200	Strong transcription	NHDF-Ad	bronchial
31	chr12:120145000-120158200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
32	chr12:120145000-120168600	Strong transcription	Monocytes-CD14+_RO01746	blood
33	chr12:120145400-120153800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr12:120146000-120154800	Strong transcription	GM12878-XiMat	blood
35	chr12:120146200-120154200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
36	chr12:120146200-120154400	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr12:120148400-120154400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr12:120148400-120156000	Weak transcription	Brain Angular Gyrus	brain
39	chr12:120148400-120163400	Weak transcription	Brain Substantia Nigra	brain
40	chr12:120149400-120224800	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr12:120149600-120153800	Weak transcription	Stomach Mucosa	stomach
42	chr12:120149600-120154000	Strong transcription	ES-I3 Cell Line	embryonic stem cell
43	chr12:120149800-120153800	Weak transcription	Fetal Kidney	kidney
44	chr12:120149800-120156000	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr12:120150600-120154400	Strong transcription	K562	blood
46	chr12:120151000-120156000	Weak transcription	Lung	lung
47	chr12:120151200-120154400	Weak transcription	Brain Anterior Caudate	brain
48	chr12:120151600-120153800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr12:120151600-120154000	Weak transcription	Placenta	Placenta
50	chr12:120151600-120154600	Weak transcription	Left Ventricle	heart

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