Variant report

Variant	rs2708434
Chromosome Location	chr12:40488588-40488589
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:40487964..40490354-chr12:40491497..40493433,2	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1086487	1.00[AFR][1000 genomes]
rs2624245	1.00[AFR][1000 genomes]
rs2624247	1.00[AFR][1000 genomes]
rs2624248	1.00[AFR][1000 genomes]
rs2708413	1.00[AFR][1000 genomes]
rs2708448	1.00[AFR][1000 genomes]
rs2708452	1.00[AFR][1000 genomes]
rs2708459	1.00[AFR][1000 genomes]
rs476592	1.00[AFR][1000 genomes]
rs478527	1.00[AFR][1000 genomes]
rs489044	1.00[AFR][1000 genomes]
rs511097	1.00[AFR][1000 genomes]
rs518159	1.00[AFR][1000 genomes]
rs522895	1.00[AFR][1000 genomes]
rs525931	1.00[AFR][1000 genomes]
rs530071	1.00[AFR][1000 genomes]
rs545434	1.00[AFR][1000 genomes]
rs546083	1.00[AFR][1000 genomes]
rs578572	1.00[AFR][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	nsv558596	chr12:40413698-40591117	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv899028	chr12:40478652-40524180	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
3	nsv899029	chr12:40478652-40536061	Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40464400-40493200	Weak transcription	Colon Smooth Muscle	Colon
2	chr12:40466400-40498200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr12:40471400-40496800	Weak transcription	Stomach Smooth Muscle	stomach
4	chr12:40474400-40497000	Weak transcription	Ovary	ovary
5	chr12:40475400-40497200	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr12:40475600-40496400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr12:40476400-40492400	Weak transcription	K562	blood
8	chr12:40476400-40497400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr12:40476600-40492600	Weak transcription	Lung	lung
10	chr12:40476600-40498400	Weak transcription	Fetal Stomach	stomach
11	chr12:40476800-40497800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr12:40477000-40492000	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr12:40477000-40497000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr12:40477200-40495200	Weak transcription	Hela-S3	cervix
15	chr12:40477400-40496800	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr12:40478600-40492600	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr12:40479000-40493400	Weak transcription	Duodenum Mucosa	Duodenum
18	chr12:40479200-40493200	Weak transcription	Fetal Heart	heart
19	chr12:40480200-40493400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr12:40480600-40496800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr12:40481200-40492800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr12:40482000-40497800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr12:40482400-40493400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr12:40485000-40492600	Weak transcription	Fetal Intestine Large	intestine
25	chr12:40485600-40496800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr12:40486000-40492600	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr12:40486800-40492200	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr12:40487000-40497400	Weak transcription	Monocytes-CD14+_RO01746	blood
29	chr12:40487800-40492400	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr12:40487800-40492400	Weak transcription	Fetal Intestine Small	intestine
31	chr12:40488200-40492600	Weak transcription	Left Ventricle	heart
32	chr12:40488200-40498600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr12:40488400-40492600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr12:40488400-40492600	Weak transcription	Pancreas	Pancrea

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