Variant report

Variant	rs2048498
Chromosome Location	chr12:122633456-122633457
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:122632041..122634965-chr12:122670942..122673294,2	K562	blood:
2	chr12:122609634..122612105-chr12:122631244..122633897,2	K562	blood:
3	chr12:122467382..122468928-chr12:122633431..122635226,2	K562	blood:
4	chr12:122631493..122633468-chr12:122636504..122639040,2	K562	blood:
5	chr12:122513440..122515141-chr12:122630792..122633616,2	K562	blood:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11058058	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2175531	0.82[ASN][1000 genomes]
rs7976422	0.89[EUR][1000 genomes]
rs925459	0.81[ASN][1000 genomes]
rs925460	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][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	nsv527450	chr12:122481290-122676531	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	nsv1038827	chr12:122627371-122687913	Bivalent/Poised TSS Genic enhancers Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122627000-122646800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr12:122627400-122636400	Weak transcription	K562	blood
3	chr12:122627600-122633800	Weak transcription	Primary B cells from cord blood	blood
4	chr12:122627800-122636000	Weak transcription	Psoas Muscle	Psoas
5	chr12:122628200-122633800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr12:122628200-122637400	Weak transcription	Brain Substantia Nigra	brain
7	chr12:122628400-122636400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr12:122628600-122640000	Weak transcription	Esophagus	oesophagus
9	chr12:122628800-122633600	Weak transcription	Adipose Nuclei	Adipose
10	chr12:122628800-122633800	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr12:122628800-122636200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr12:122628800-122636200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr12:122628800-122636200	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr12:122628800-122636400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr12:122628800-122636400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr12:122628800-122636400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr12:122628800-122636600	Weak transcription	A549	lung
18	chr12:122628800-122637400	Weak transcription	Brain Anterior Caudate	brain
19	chr12:122628800-122637600	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr12:122629000-122636600	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr12:122629200-122633600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr12:122629200-122640600	Weak transcription	Primary T cells from cord blood	blood
23	chr12:122629200-122643600	Weak transcription	Colon Smooth Muscle	Colon
24	chr12:122629800-122633600	Weak transcription	Fetal Intestine Large	intestine
25	chr12:122630200-122636200	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr12:122630200-122636400	Weak transcription	Brain Cingulate Gyrus	brain
27	chr12:122630400-122633600	Weak transcription	Fetal Muscle Leg	muscle
28	chr12:122630600-122633600	Weak transcription	Thymus	Thymus
29	chr12:122630600-122635000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr12:122630600-122641200	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr12:122630600-122655600	Weak transcription	Right Ventricle	heart
32	chr12:122630800-122634200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr12:122630800-122640200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr12:122631000-122635000	Weak transcription	Spleen	Spleen
35	chr12:122632000-122633600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr12:122632400-122633800	Weak transcription	Brain Germinal Matrix	brain
37	chr12:122632400-122634200	Weak transcription	Fetal Intestine Small	intestine
38	chr12:122632400-122636400	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr12:122632600-122636400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr12:122632800-122633800	Enhancers	NHLF	lung
41	chr12:122632800-122634000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr12:122633000-122633800	Enhancers	Fetal Lung	lung
43	chr12:122633000-122633800	Enhancers	Fetal Stomach	stomach
44	chr12:122633200-122633800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr12:122633200-122634000	Enhancers	Stomach Smooth Muscle	stomach
46	chr12:122633400-122633600	Enhancers	Rectal Mucosa Donor 29	rectum
47	chr12:122633400-122633600	Weak transcription	Right Atrium	heart
48	chr12:122633400-122633600	Enhancers	Small Intestine	intestine
49	chr12:122633400-122633800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr12:122633400-122633800	Enhancers	Duodenum Smooth Muscle	Duodenum

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