Variant report

Variant	rs73415630
Chromosome Location	chr12:122375140-122375141
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:122374906..122377528-chr12:122380651..122382178,2	K562	blood:

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11830915	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11832557	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73415646	0.93[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs73415652	0.92[AFR][1000 genomes];0.80[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
2	nsv916686	chr12:122240149-122714056	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
3	nsv899568	chr12:122254713-122456524	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	esv34001	chr12:122298737-122521637	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122357000-122380400	Weak transcription	Gastric	stomach
2	chr12:122357000-122383600	Weak transcription	Primary T cells from cord blood	blood
3	chr12:122363000-122384800	Weak transcription	Psoas Muscle	Psoas
4	chr12:122363000-122393400	Weak transcription	Brain Angular Gyrus	brain
5	chr12:122363200-122384600	Weak transcription	Brain Cingulate Gyrus	brain
6	chr12:122363400-122377000	Weak transcription	Fetal Intestine Small	intestine
7	chr12:122363600-122375400	Weak transcription	Right Atrium	heart
8	chr12:122363600-122377400	Weak transcription	Fetal Brain Female	brain
9	chr12:122363600-122383600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr12:122363600-122383800	Weak transcription	Fetal Brain Male	brain
11	chr12:122363600-122385600	Weak transcription	Fetal Lung	lung
12	chr12:122363600-122392200	Weak transcription	Left Ventricle	heart
13	chr12:122363600-122398600	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr12:122363600-122408000	Weak transcription	Right Ventricle	heart
15	chr12:122365600-122385800	Weak transcription	Fetal Muscle Trunk	muscle
16	chr12:122365600-122393400	Weak transcription	Brain Substantia Nigra	brain
17	chr12:122365800-122390200	Weak transcription	HUVEC	blood vessel
18	chr12:122365800-122405000	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr12:122366000-122376800	Weak transcription	HMEC	breast
20	chr12:122369600-122375800	Strong transcription	Skeletal Muscle Female	skeletal muscle
21	chr12:122369600-122376000	Strong transcription	Muscle Satellite Cultured Cells	--
22	chr12:122369600-122376000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr12:122369800-122376800	Weak transcription	Placenta	Placenta
24	chr12:122370600-122387800	Weak transcription	NHDF-Ad	bronchial
25	chr12:122370600-122403200	Weak transcription	Fetal Kidney	kidney
26	chr12:122371200-122375200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr12:122371800-122375200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr12:122372000-122375800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr12:122372000-122376000	Strong transcription	NHLF	lung
30	chr12:122372200-122375200	Weak transcription	NHEK	skin
31	chr12:122372200-122379600	Weak transcription	NH-A	brain
32	chr12:122372200-122396400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr12:122372400-122376200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr12:122372400-122377400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr12:122372400-122378600	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr12:122372800-122393600	Weak transcription	Brain Hippocampus Middle	brain
37	chr12:122373600-122375200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr12:122373800-122376000	Strong transcription	Brain Anterior Caudate	brain
39	chr12:122374000-122376200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr12:122374000-122402800	Weak transcription	HSMM	muscle
41	chr12:122374000-122405600	Weak transcription	Adipose Nuclei	Adipose
42	chr12:122374400-122375200	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr12:122374400-122375600	Strong transcription	Pancreas	Pancrea
44	chr12:122374600-122375200	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
45	chr12:122374600-122375200	ZNF genes & repeats	A549	lung
46	chr12:122374600-122375400	Strong transcription	Ovary	ovary
47	chr12:122374600-122376000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr12:122374800-122375200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr12:122374800-122375200	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
50	chr12:122374800-122375200	ZNF genes & repeats	Fetal Stomach	stomach

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