Variant report

Variant	rs12464036
Chromosome Location	chr2:149371609-149371610
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:149366818..149368565-chr2:149369705..149372516,2	MCF-7	breast:
2	chr2:149371306..149373545-chr2:149401234..149403326,2	MCF-7	breast:
3	chr2:149370215..149372318-chr2:149401556..149403529,3	K562	blood:
4	chr2:149366286..149369702-chr2:149370979..149374487,6	K562	blood:
5	chr2:149368855..149371718-chr2:149401753..149403322,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000135999	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs1020468	0.87[ASN][1000 genomes]
rs1031290	1.00[ASN][1000 genomes]
rs10454124	0.90[ASN][1000 genomes]
rs10928404	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10928407	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12468186	0.87[EUR][1000 genomes]
rs12472738	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12616115	0.88[EUR][1000 genomes]
rs12619201	0.87[ASN][1000 genomes]
rs12997473	0.83[EUR][1000 genomes]
rs12997838	0.86[EUR][1000 genomes]
rs13003132	0.87[EUR][1000 genomes]
rs13004738	0.89[ASN][1000 genomes]
rs13008203	0.85[EUR][1000 genomes]
rs13010027	0.80[AFR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13029692	0.92[EUR][1000 genomes]
rs16828791	0.87[EUR][1000 genomes]
rs16828816	0.92[EUR][1000 genomes]
rs16828836	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16828954	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16828967	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16829006	0.87[ASN][1000 genomes]
rs16829034	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1809051	0.92[EUR][1000 genomes]
rs2382231	0.86[EUR][1000 genomes]
rs34324924	0.91[EUR][1000 genomes]
rs34671855	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34881950	0.92[EUR][1000 genomes]
rs35057193	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35076661	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35154707	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35168772	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs36067597	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4972375	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4972380	0.87[ASN][1000 genomes]
rs4972381	0.87[ASN][1000 genomes]
rs4972383	0.90[ASN][1000 genomes]
rs6430323	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6709767	0.80[AFR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6743835	0.86[ASN][1000 genomes]
rs6746352	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs71413623	0.80[AFR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs720844	0.90[ASN][1000 genomes]
rs7571333	0.87[ASN][1000 genomes]
rs7578059	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7590549	0.87[ASN][1000 genomes]
rs7597133	0.80[AFR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7606475	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs930651	0.80[AFR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs930652	0.80[AFR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2751831	chr2:149151358-150105603	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv868861	chr2:149198443-149434604	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv917109	chr2:149198443-149948302	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	nsv1004663	chr2:149214090-149373061	Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	esv1827161	chr2:149352353-149475737	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:149368400-149372000	Weak transcription	Pancreas	Pancrea
2	chr2:149371000-149372400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr2:149371000-149372400	Enhancers	Left Ventricle	heart
4	chr2:149371000-149372600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr2:149371000-149372800	Enhancers	Hela-S3	cervix
6	chr2:149371000-149373600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr2:149371000-149373600	Enhancers	Placenta	Placenta
8	chr2:149371000-149373800	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr2:149371000-149374000	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr2:149371000-149374600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:149371000-149374800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr2:149371200-149372400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr2:149371200-149372400	Enhancers	Lung	lung
14	chr2:149371200-149373600	Enhancers	H9 Cell Line	embryonic stem cell
15	chr2:149371200-149373600	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr2:149371200-149373600	Enhancers	Fetal Muscle Leg	muscle
17	chr2:149371200-149374800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr2:149371200-149374800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr2:149371200-149374800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr2:149371400-149371800	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr2:149371400-149371800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr2:149371400-149371800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr2:149371400-149371800	Enhancers	Skeletal Muscle Male	skeletal muscle
24	chr2:149371400-149371800	Enhancers	Spleen	Spleen
25	chr2:149371400-149371800	Enhancers	Osteobl	bone
26	chr2:149371400-149372000	Enhancers	Fetal Heart	heart
27	chr2:149371400-149372000	Enhancers	K562	blood
28	chr2:149371400-149372000	Enhancers	NHEK	skin
29	chr2:149371400-149372400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr2:149371400-149372400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr2:149371400-149372600	Enhancers	HepG2	liver
32	chr2:149371400-149373000	Enhancers	Brain Anterior Caudate	brain
33	chr2:149371400-149373000	Enhancers	Brain Inferior Temporal Lobe	brain
34	chr2:149371400-149373200	Enhancers	NH-A	brain
35	chr2:149371400-149373400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr2:149371400-149373400	Enhancers	Primary B cells from peripheral blood	blood
37	chr2:149371400-149373400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr2:149371400-149373400	Enhancers	Duodenum Smooth Muscle	Duodenum
39	chr2:149371400-149373600	Enhancers	Breast Myoepithelial Primary Cells	Breast
40	chr2:149371400-149373600	Enhancers	Colon Smooth Muscle	Colon
41	chr2:149371400-149373600	Enhancers	Fetal Lung	lung
42	chr2:149371400-149373600	Enhancers	HMEC	breast
43	chr2:149371400-149373800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr2:149371400-149373800	Enhancers	iPS-18 Cell Line	embryonic stem cell
45	chr2:149371400-149373800	Enhancers	Cortex derived primary cultured neurospheres	brain
46	chr2:149371400-149373800	Enhancers	Brain Cingulate Gyrus	brain
47	chr2:149371400-149374000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr2:149371400-149374000	Enhancers	HUES64 Cell Line	embryonic stem cell
49	chr2:149371400-149374600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr2:149371600-149371800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell

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