Variant report

Variant	rs12830351
Chromosome Location	chr12:122475739-122475740
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10840637	0.80[AMR][1000 genomes]
rs10840640	0.88[AMR][1000 genomes]
rs10840641	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11043280	0.80[AMR][1000 genomes]
rs11043288	0.86[AMR][1000 genomes]
rs11043294	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12230841	0.97[ASN][1000 genomes]
rs12809676	0.84[AMR][1000 genomes]
rs12827036	0.81[AMR][1000 genomes]
rs7298990	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7969138	0.84[ASN][1000 genomes]
rs7976716	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs9739381	0.81[AMR][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	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	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:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122461600-122492400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr12:122461800-122476600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr12:122462000-122492400	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chr12:122462200-122489000	Weak transcription	HUVEC	blood vessel
5	chr12:122462400-122477800	Weak transcription	Fetal Kidney	kidney
6	chr12:122462400-122481800	Weak transcription	Rectal Smooth Muscle	rectum
7	chr12:122462400-122489000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr12:122462400-122490400	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr12:122462400-122492200	Weak transcription	Stomach Mucosa	stomach
10	chr12:122462400-122500000	Weak transcription	Hela-S3	cervix
11	chr12:122462600-122478000	Weak transcription	Colon Smooth Muscle	Colon
12	chr12:122466200-122500800	Weak transcription	Primary T helper cells fromperipheralblood	blood
13	chr12:122466400-122489000	Weak transcription	NHLF	lung
14	chr12:122466800-122490200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr12:122467000-122480600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr12:122467800-122478000	Strong transcription	Fetal Intestine Small	intestine
17	chr12:122467800-122488800	Weak transcription	Right Atrium	heart
18	chr12:122467800-122500000	Strong transcription	Thymus	Thymus
19	chr12:122467800-122500200	Strong transcription	Dnd41	blood
20	chr12:122468000-122489200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr12:122468200-122492800	Weak transcription	NHDF-Ad	bronchial
22	chr12:122468400-122486000	Weak transcription	NH-A	brain
23	chr12:122468400-122489000	Strong transcription	Fetal Stomach	stomach
24	chr12:122468400-122489000	Weak transcription	Psoas Muscle	Psoas
25	chr12:122468600-122478000	Weak transcription	HepG2	liver
26	chr12:122469800-122481800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
27	chr12:122470000-122482600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr12:122470000-122488800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr12:122470000-122492400	Strong transcription	Fetal Thymus	thymus
30	chr12:122470000-122492400	Weak transcription	K562	blood
31	chr12:122470200-122478000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr12:122470600-122488800	Weak transcription	Fetal Heart	heart
33	chr12:122470600-122489800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr12:122471000-122483000	Weak transcription	GM12878-XiMat	blood
35	chr12:122471600-122481800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr12:122472000-122478000	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr12:122472000-122507200	Weak transcription	Fetal Brain Male	brain
38	chr12:122472400-122481800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr12:122472400-122484800	Strong transcription	Primary B cells from peripheral blood	blood
40	chr12:122472400-122489600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr12:122472600-122481800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr12:122472600-122486000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr12:122472800-122476000	Strong transcription	Brain Cingulate Gyrus	brain
44	chr12:122472800-122477000	Strong transcription	Brain Germinal Matrix	brain
45	chr12:122472800-122478400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr12:122472800-122479400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr12:122472800-122488800	Strong transcription	Fetal Muscle Trunk	muscle
48	chr12:122472800-122488800	Strong transcription	Fetal Muscle Leg	muscle
49	chr12:122472800-122489600	Strong transcription	Cortex derived primary cultured neurospheres	brain
50	chr12:122473000-122475800	Strong transcription	H1 Cell Line	embryonic stem cell

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