Variant report

Variant	rs1873224
Chromosome Location	chr12:124491904-124491905
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:124485640..124488869-chr12:124491698..124495418,5	K562	blood:
2	chr12:124490934..124492514-chr12:124492515..124494381,2	K562	blood:
3	chr12:124491034..124493507-chr12:124494589..124496940,2	MCF-7	breast:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11608738	1.00[ASW][hapmap];1.00[LWK][hapmap];0.85[MKK][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes]
rs11829426	1.00[EUR][1000 genomes]
rs11835416	1.00[MEX][hapmap]
rs12099459	1.00[MEX][hapmap];1.00[EUR][1000 genomes]
rs1343668	1.00[MEX][hapmap];1.00[EUR][1000 genomes]
rs55680811	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55996758	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56169314	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57352016	1.00[EUR][1000 genomes]
rs57531416	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57818143	1.00[AFR][1000 genomes]
rs58157153	0.94[AFR][1000 genomes]
rs58498731	1.00[EUR][1000 genomes]
rs58556542	1.00[EUR][1000 genomes]
rs58621770	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58788131	1.00[EUR][1000 genomes]
rs59002473	1.00[EUR][1000 genomes]
rs59035549	1.00[EUR][1000 genomes]
rs60560821	1.00[EUR][1000 genomes]
rs60980349	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61151021	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61740383	1.00[EUR][1000 genomes]
rs61749063	1.00[EUR][1000 genomes]
rs7301547	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73409428	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7976904	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs939464	0.82[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs952631	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3493374	chr12:124458433-124496012	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	esv3493363	chr12:124458497-124495976	Strong transcription Genic enhancers Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	esv3493385	chr12:124458565-124495928	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:124461200-124496800	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr12:124469000-124492600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr12:124476200-124492400	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr12:124479400-124493400	Strong transcription	Dnd41	blood
5	chr12:124479800-124493000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
6	chr12:124480600-124496200	Weak transcription	Small Intestine	intestine
7	chr12:124481200-124492400	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr12:124481600-124492800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr12:124483200-124492400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr12:124483600-124494800	Weak transcription	HUVEC	blood vessel
11	chr12:124483600-124495000	Weak transcription	NH-A	brain
12	chr12:124483800-124493000	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr12:124484400-124498400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr12:124485000-124498800	Strong transcription	Hela-S3	cervix
15	chr12:124486000-124496400	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr12:124486400-124496200	Weak transcription	HMEC	breast
17	chr12:124486800-124492600	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr12:124486800-124496200	Weak transcription	Rectal Smooth Muscle	rectum
19	chr12:124486800-124496200	Weak transcription	NHLF	lung
20	chr12:124487000-124495200	Weak transcription	Osteobl	bone
21	chr12:124487000-124495800	Weak transcription	Ovary	ovary
22	chr12:124487200-124495400	Weak transcription	Esophagus	oesophagus
23	chr12:124487400-124492400	Weak transcription	Fetal Kidney	kidney
24	chr12:124487600-124492400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr12:124488200-124492600	Strong transcription	Aorta	Aorta
26	chr12:124488400-124498400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr12:124488600-124493400	Genic enhancers	Fetal Muscle Leg	muscle
28	chr12:124488800-124492000	Weak transcription	NHDF-Ad	bronchial
29	chr12:124488800-124493200	Genic enhancers	Fetal Intestine Small	intestine
30	chr12:124489200-124492200	Strong transcription	Adipose Nuclei	Adipose
31	chr12:124489200-124493400	Enhancers	Skeletal Muscle Female	skeletal muscle
32	chr12:124489200-124495000	Weak transcription	A549	lung
33	chr12:124489200-124510400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr12:124489400-124492200	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr12:124489400-124492400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr12:124489400-124495000	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr12:124489800-124493000	Enhancers	Fetal Heart	heart
38	chr12:124489800-124493600	Enhancers	Brain Hippocampus Middle	brain
39	chr12:124489800-124496200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr12:124490000-124493600	Enhancers	Brain Anterior Caudate	brain
41	chr12:124490000-124493600	Enhancers	Brain Cingulate Gyrus	brain
42	chr12:124490000-124493600	Enhancers	Right Atrium	heart
43	chr12:124490200-124492000	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr12:124490200-124492000	Enhancers	Spleen	Spleen
45	chr12:124490200-124492200	Enhancers	Primary B cells from peripheral blood	blood
46	chr12:124490200-124492200	Genic enhancers	Left Ventricle	heart
47	chr12:124490200-124492800	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr12:124490200-124493000	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr12:124490200-124493000	Genic enhancers	K562	blood
50	chr12:124490200-124493200	Enhancers	Primary T killer naive cells fromperipheralblood	blood

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