Variant report

Variant	rs73252077
Chromosome Location	chr12:22220887-22220888
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:22219317..22222096-chr12:22223518..22225466,2	K562	blood:
2	chr12:22215672..22218062-chr12:22219622..22221151,2	MCF-7	breast:
3	chr12:22220400..22223004-chr12:22489207..22490731,2	K562	blood:

Variant related genes	Relation type
ENSG00000111728	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10770889	1.00[EUR][1000 genomes]
rs11046312	1.00[EUR][1000 genomes]
rs2098439	1.00[EUR][1000 genomes]
rs2909074	1.00[EUR][1000 genomes]
rs2909081	1.00[EUR][1000 genomes]
rs2955502	1.00[EUR][1000 genomes]
rs4072818	1.00[EUR][1000 genomes]
rs4762875	1.00[EUR][1000 genomes]
rs56796024	1.00[EUR][1000 genomes]
rs6487283	1.00[EUR][1000 genomes]
rs73252089	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73268247	1.00[EUR][1000 genomes]
rs7486136	1.00[EUR][1000 genomes]
rs7968117	1.00[EUR][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	nsv1051073	chr12:21910875-22271209	Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	esv2758298	chr12:22140834-22339299	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer 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	esv2759883	chr12:22140834-22736907	Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv438196	chr12:22195202-22234058	Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	esv1850259	chr12:22198865-22244741	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:22202200-22223800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr12:22203800-22235200	Weak transcription	Gastric	stomach
3	chr12:22204600-22223400	Weak transcription	Pancreas	Pancrea
4	chr12:22205200-22222200	Weak transcription	Fetal Intestine Small	intestine
5	chr12:22209800-22222000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr12:22209800-22223200	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr12:22209800-22229200	Weak transcription	Thymus	Thymus
8	chr12:22210000-22221200	Strong transcription	Liver	Liver
9	chr12:22210400-22221200	Weak transcription	Right Ventricle	heart
10	chr12:22211600-22221000	Weak transcription	Fetal Stomach	stomach
11	chr12:22213000-22221200	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr12:22216000-22221200	Weak transcription	Brain Cingulate Gyrus	brain
13	chr12:22216000-22221800	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr12:22216200-22222200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr12:22216200-22233200	Weak transcription	K562	blood
16	chr12:22216400-22221200	Weak transcription	Fetal Brain Female	brain
17	chr12:22216600-22221200	Weak transcription	NHDF-Ad	bronchial
18	chr12:22217800-22221200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr12:22217800-22222000	Strong transcription	Primary hematopoietic stem cells	blood
20	chr12:22218000-22221000	Strong transcription	Fetal Muscle Trunk	muscle
21	chr12:22218000-22221000	Strong transcription	Sigmoid Colon	Sigmoid Colon
22	chr12:22218400-22221200	Weak transcription	Colonic Mucosa	Colon
23	chr12:22218800-22221000	Weak transcription	Rectal Smooth Muscle	rectum
24	chr12:22218800-22221400	Weak transcription	HUVEC	blood vessel
25	chr12:22218800-22222000	Weak transcription	HSMM	muscle
26	chr12:22218800-22222400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr12:22218800-22222600	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr12:22218800-22223000	Weak transcription	Primary B cells from peripheral blood	blood
29	chr12:22219000-22222400	Weak transcription	A549	lung
30	chr12:22219000-22222600	Weak transcription	HSMMtube	muscle
31	chr12:22219200-22221000	Weak transcription	Primary neutrophils fromperipheralblood	blood
32	chr12:22219200-22221400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr12:22219200-22221400	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr12:22219200-22221800	Weak transcription	Primary B cells from cord blood	blood
35	chr12:22219200-22222800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr12:22219200-22223000	Weak transcription	Placenta	Placenta
37	chr12:22219400-22221000	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr12:22219400-22221000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr12:22219400-22221000	Weak transcription	Brain Hippocampus Middle	brain
40	chr12:22219400-22221000	Weak transcription	Ovary	ovary
41	chr12:22219400-22221000	Weak transcription	Psoas Muscle	Psoas
42	chr12:22219400-22221000	Weak transcription	Stomach Smooth Muscle	stomach
43	chr12:22219400-22221200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr12:22219400-22221200	Weak transcription	HMEC	breast
45	chr12:22219400-22221400	Weak transcription	Fetal Muscle Leg	muscle
46	chr12:22219400-22221800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr12:22219400-22222800	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr12:22219600-22221000	Weak transcription	Primary T helper cells PMA-I stimulated	--
49	chr12:22219600-22221200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr12:22219600-22221200	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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