Variant report

Variant	rs12064434
Chromosome Location	chr1:149953471-149953472
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:149947171..149952733-chr1:149953125..149958126,9	MCF-7	breast:
2	chr1:149953342..149955769-chr1:149958708..149960353,2	K562	blood:
3	chr1:149951641..149954586-chr1:149979434..149983190,4	MCF-7	breast:
4	chr1:149949648..149953559-chr1:149958432..149961750,3	MCF-7	breast:
5	chr1:149939082..149940718-chr1:149951900..149953765,2	K562	blood:

Variant related genes	Relation type
ENSG00000163113	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10494259	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1061955	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11205313	0.86[YRI][hapmap];1.00[AMR][1000 genomes]
rs11205314	1.00[AMR][1000 genomes]
rs12022928	0.90[YRI][hapmap]
rs12060171	1.00[AMR][1000 genomes]
rs12060830	0.95[YRI][hapmap]
rs12082035	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12091025	0.90[YRI][hapmap];1.00[AMR][1000 genomes]
rs12091858	0.86[YRI][hapmap];1.00[AMR][1000 genomes]
rs12091904	1.00[AMR][1000 genomes]
rs16833063	0.90[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16833149	0.90[YRI][hapmap]
rs16833175	0.95[YRI][hapmap];1.00[AMR][1000 genomes]
rs16833178	0.95[YRI][hapmap];1.00[AMR][1000 genomes]
rs16838432	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4279885	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58342123	1.00[AMR][1000 genomes]
rs74126211	1.00[AMR][1000 genomes]
rs7517085	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9804143	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs9988489	0.90[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831537	chr1:149833357-150064655	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	431 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:149930800-149959000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr1:149934200-149958000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr1:149939600-149958000	Weak transcription	Aorta	Aorta
4	chr1:149941200-149957400	Weak transcription	Spleen	Spleen
5	chr1:149944800-149957800	Weak transcription	NHDF-Ad	bronchial
6	chr1:149946400-149957200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr1:149946400-149959000	Weak transcription	Gastric	stomach
8	chr1:149947600-149963600	Weak transcription	Rectal Smooth Muscle	rectum
9	chr1:149947800-149958200	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr1:149947800-149959200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr1:149948200-149957400	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr1:149948200-149958400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr1:149948200-149967600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr1:149948200-149967600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr1:149948200-149973000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr1:149948200-149977400	Weak transcription	Fetal Muscle Trunk	muscle
17	chr1:149948200-149981000	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr1:149948400-149958600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr1:149948400-149959000	Weak transcription	Ovary	ovary
20	chr1:149948400-149964600	Weak transcription	Lung	lung
21	chr1:149948400-149967800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr1:149948400-149969400	Weak transcription	Primary T helper cells fromperipheralblood	blood
23	chr1:149948400-149971600	Weak transcription	Fetal Brain Male	brain
24	chr1:149948400-149981400	Weak transcription	Esophagus	oesophagus
25	chr1:149949200-149956200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr1:149949400-149953800	Enhancers	Liver	Liver
27	chr1:149949400-149975400	Weak transcription	Placenta	Placenta
28	chr1:149949600-149953600	Enhancers	HepG2	liver
29	chr1:149949600-149956000	Weak transcription	Fetal Muscle Leg	muscle
30	chr1:149949600-149957200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr1:149949600-149958400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr1:149949600-149958400	Weak transcription	Fetal Lung	lung
33	chr1:149949600-149959200	Weak transcription	Left Ventricle	heart
34	chr1:149949600-149967000	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr1:149949600-149967000	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr1:149949600-149967600	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr1:149949600-149967600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr1:149949600-149968200	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr1:149949600-149968400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr1:149949600-149968600	Weak transcription	K562	blood
41	chr1:149949600-149974400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr1:149950600-149953600	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr1:149950600-149953600	Enhancers	Fetal Intestine Large	intestine
44	chr1:149950800-149953600	Enhancers	Brain Hippocampus Middle	brain
45	chr1:149950800-149957600	Weak transcription	HSMMtube	muscle
46	chr1:149951000-149957800	Weak transcription	Psoas Muscle	Psoas
47	chr1:149951200-149957800	Weak transcription	Fetal Kidney	kidney
48	chr1:149951200-149964800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr1:149951400-149957200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr1:149951400-149957600	Weak transcription	Adipose Nuclei	Adipose

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