Variant report

Variant	rs590978
Chromosome Location	chr12:121269702-121269703
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:121251970..121254055-chr12:121269166..121270703,2	K562	blood:
2	chr12:121262055..121264947-chr12:121269553..121271661,2	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10735074	1.00[AMR][1000 genomes]
rs1718210	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1732394	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1732406	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs478415	1.00[AMR][1000 genomes]
rs589210	1.00[AFR][1000 genomes];1.00[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	nsv521928	chr12:121041728-121761800	Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv1037070	chr12:121069938-121459047	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv560438	chr12:121194565-121352206	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv1045178	chr12:121231461-121271734	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121222200-121274000	Weak transcription	Lung	lung
2	chr12:121248200-121272200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr12:121248800-121270400	Weak transcription	Primary B cells from cord blood	blood
4	chr12:121248800-121271600	Weak transcription	Primary monocytes fromperipheralblood	blood
5	chr12:121248800-121271800	Weak transcription	Dnd41	blood
6	chr12:121255800-121270000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr12:121260400-121270400	Weak transcription	Fetal Muscle Leg	muscle
8	chr12:121260800-121272400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr12:121261600-121270600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr12:121261600-121274400	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr12:121264400-121271000	Weak transcription	Spleen	Spleen
12	chr12:121264600-121272800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr12:121264800-121275000	Enhancers	Brain Hippocampus Middle	brain
14	chr12:121265200-121272000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr12:121265400-121273800	Enhancers	Brain Substantia Nigra	brain
16	chr12:121265400-121274200	Enhancers	Brain Angular Gyrus	brain
17	chr12:121266000-121274200	Enhancers	Brain Cingulate Gyrus	brain
18	chr12:121266400-121274600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr12:121266600-121274000	Enhancers	Brain Anterior Caudate	brain
20	chr12:121266800-121271600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr12:121266800-121276200	Enhancers	Primary T helper cells PMA-I stimulated	--
22	chr12:121267200-121282800	Weak transcription	Fetal Muscle Trunk	muscle
23	chr12:121267400-121272000	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr12:121267400-121272600	Enhancers	Brain Inferior Temporal Lobe	brain
25	chr12:121267600-121271200	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr12:121267600-121274000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr12:121267600-121285800	Weak transcription	Colonic Mucosa	Colon
28	chr12:121267800-121274800	Enhancers	Skeletal Muscle Female	skeletal muscle
29	chr12:121268200-121269800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr12:121268400-121269800	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr12:121268400-121269800	Enhancers	Duodenum Smooth Muscle	Duodenum
32	chr12:121268400-121269800	Enhancers	Fetal Intestine Large	intestine
33	chr12:121268400-121269800	Enhancers	Fetal Intestine Small	intestine
34	chr12:121268400-121269800	Enhancers	K562	blood
35	chr12:121268400-121273800	Weak transcription	HSMM	muscle
36	chr12:121268400-121274000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr12:121268400-121274800	Enhancers	Rectal Smooth Muscle	rectum
38	chr12:121268600-121269800	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr12:121268600-121269800	Enhancers	Fetal Stomach	stomach
40	chr12:121268600-121270000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr12:121268600-121270000	Enhancers	Stomach Smooth Muscle	stomach
42	chr12:121268600-121272200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
43	chr12:121268600-121272600	Enhancers	Fetal Heart	heart
44	chr12:121268600-121272600	Weak transcription	NHEK	skin
45	chr12:121268600-121273200	Enhancers	Right Ventricle	heart
46	chr12:121268600-121274200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr12:121268600-121274600	Enhancers	Adipose Nuclei	Adipose
48	chr12:121268600-121274600	Enhancers	Skeletal Muscle Male	skeletal muscle
49	chr12:121268600-121274800	Enhancers	Colon Smooth Muscle	Colon
50	chr12:121268600-121276200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

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