Variant report

Variant	rs12965332
Chromosome Location	chr18:43967598-43967599
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:43913578..43915113-chr18:43966541..43968563,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000141622	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs12606026	1.00[CEU][hapmap];0.81[JPT][hapmap];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12607371	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12607419	0.88[CEU][hapmap];0.85[MEX][hapmap]
rs12607488	0.87[CEU][hapmap]
rs12607970	1.00[CEU][hapmap];0.94[CHB][hapmap];0.90[CHD][hapmap];0.96[GIH][hapmap];0.89[JPT][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12608433	0.93[CEU][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12956271	0.94[CEU][hapmap];0.86[EUR][1000 genomes]
rs12956369	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12963221	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs16978558	0.84[ASW][hapmap];1.00[CEU][hapmap];0.87[CHB][hapmap];0.90[CHD][hapmap];0.96[GIH][hapmap];0.89[JPT][hapmap];0.95[LWK][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16978559	1.00[CEU][hapmap];0.87[CHB][hapmap];0.86[CHD][hapmap];0.96[GIH][hapmap];0.89[JPT][hapmap];0.91[LWK][hapmap];0.85[MEX][hapmap];0.96[TSI][hapmap];1.00[YRI][hapmap];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2886344	0.93[CEU][hapmap]
rs34026934	0.89[EUR][1000 genomes]
rs34046291	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34139708	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34271155	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34311565	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34472213	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34656919	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34960770	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35025356	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35044751	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35927866	0.95[AFR][1000 genomes]
rs35939778	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs36020946	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3889942	0.93[CEU][hapmap];0.83[EUR][1000 genomes]
rs57027858	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs58223751	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs58843633	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7229614	0.80[CEU][hapmap]
rs7236110	0.94[CEU][hapmap]
rs9949033	0.94[CEU][hapmap]
rs9949861	0.94[CEU][hapmap];0.80[GIH][hapmap];0.85[MEX][hapmap]
rs9962451	0.88[CEU][hapmap]

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	nsv576812	chr18:43946837-43976847	Genic enhancers Weak transcription Strong transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:43939400-43976600	Weak transcription	Hela-S3	cervix
2	chr18:43949400-43972600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr18:43956400-43978400	Weak transcription	Liver	Liver
4	chr18:43963000-43972600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr18:43964000-43970400	Enhancers	Fetal Muscle Leg	muscle
6	chr18:43964400-43980800	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr18:43965000-43967600	Enhancers	Fetal Brain Male	brain
8	chr18:43965000-43969400	Enhancers	Fetal Heart	heart
9	chr18:43965000-43969600	Enhancers	Fetal Brain Female	brain
10	chr18:43965800-43970000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr18:43966000-43968000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr18:43966200-43967600	Enhancers	Brain Inferior Temporal Lobe	brain
13	chr18:43966200-43968200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr18:43966200-43968400	Enhancers	HSMMtube	muscle
15	chr18:43966200-43968600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
16	chr18:43966200-43968800	Enhancers	Fetal Stomach	stomach
17	chr18:43966200-43970400	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr18:43966400-43968600	Enhancers	Fetal Lung	lung
19	chr18:43966400-43968600	Enhancers	Fetal Thymus	thymus
20	chr18:43966600-43968000	Enhancers	Aorta	Aorta
21	chr18:43966600-43968000	Enhancers	Brain Anterior Caudate	brain
22	chr18:43966600-43968200	Enhancers	Adipose Nuclei	Adipose
23	chr18:43966600-43968400	Enhancers	Duodenum Smooth Muscle	Duodenum
24	chr18:43966600-43968600	Enhancers	Lung	lung
25	chr18:43966600-43968600	Enhancers	Psoas Muscle	Psoas
26	chr18:43966600-43968600	Enhancers	Rectal Smooth Muscle	rectum
27	chr18:43966600-43968800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr18:43966600-43969200	Enhancers	Right Atrium	heart
29	chr18:43966800-43967600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr18:43966800-43967600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr18:43966800-43967600	Enhancers	Brain Cingulate Gyrus	brain
32	chr18:43966800-43967600	Flanking Active TSS	Stomach Smooth Muscle	stomach
33	chr18:43966800-43968000	Enhancers	Brain Germinal Matrix	brain
34	chr18:43966800-43968200	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr18:43966800-43968200	Enhancers	Esophagus	oesophagus
36	chr18:43966800-43968200	Enhancers	Right Ventricle	heart
37	chr18:43966800-43968600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr18:43966800-43968600	Enhancers	Brain Substantia Nigra	brain
39	chr18:43966800-43968600	Enhancers	Placenta	Placenta
40	chr18:43966800-43968600	Enhancers	Spleen	Spleen
41	chr18:43966800-43969000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr18:43966800-43969200	Enhancers	HMEC	breast
43	chr18:43967000-43967600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
44	chr18:43967000-43967800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr18:43967000-43967800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
46	chr18:43967000-43968000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr18:43967000-43968000	Enhancers	Brain Angular Gyrus	brain
48	chr18:43967000-43968400	Enhancers	Fetal Kidney	kidney
49	chr18:43967000-43968600	Enhancers	Left Ventricle	heart
50	chr18:43967200-43967600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland

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