Variant report

Variant	rs34043301
Chromosome Location	chr2:153613324-153613325
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:153612625..153615210-chr2:153618975..153622018,4	K562	blood:

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

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1036525	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10497116	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13012521	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13021349	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17328643	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17400610	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17400736	0.87[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs1986744	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34121167	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34419942	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6738344	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834421	chr2:153470109-153664235	Strong transcription Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	esv3693438	chr2:153505376-153718246	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv875293	chr2:153578900-153617420	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
4	nsv834422	chr2:153589448-153743069	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
5	nsv875294	chr2:153607506-153733325	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:153575800-153621400	Weak transcription	Pancreas	Pancrea
2	chr2:153576000-153615800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr2:153577200-153617600	Weak transcription	Rectal Smooth Muscle	rectum
4	chr2:153577600-153617800	Weak transcription	NHLF	lung
5	chr2:153587600-153618000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr2:153587600-153621600	Weak transcription	NHEK	skin
7	chr2:153588000-153617800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr2:153588200-153618600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr2:153588600-153619400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr2:153589400-153613600	Weak transcription	Brain Angular Gyrus	brain
11	chr2:153590200-153616800	Weak transcription	Right Ventricle	heart
12	chr2:153590400-153620400	Weak transcription	Brain Cingulate Gyrus	brain
13	chr2:153592200-153618800	Weak transcription	HSMMtube	muscle
14	chr2:153593200-153618800	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr2:153593200-153628400	Weak transcription	Fetal Kidney	kidney
16	chr2:153593600-153617000	Weak transcription	Brain Anterior Caudate	brain
17	chr2:153593600-153618600	Weak transcription	Osteobl	bone
18	chr2:153593600-153621800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr2:153593800-153613400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr2:153593800-153617600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr2:153593800-153617600	Weak transcription	NH-A	brain
22	chr2:153593800-153620000	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr2:153593800-153621400	Weak transcription	HMEC	breast
24	chr2:153593800-153621600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr2:153594200-153613400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr2:153594400-153615000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr2:153595200-153616800	Weak transcription	Colonic Mucosa	Colon
28	chr2:153595200-153618000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr2:153595200-153618000	Weak transcription	Brain Hippocampus Middle	brain
30	chr2:153595200-153621800	Weak transcription	Aorta	Aorta
31	chr2:153595200-153622000	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr2:153595400-153613400	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr2:153595400-153618400	Weak transcription	Left Ventricle	heart
34	chr2:153595400-153621600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr2:153595600-153613600	Weak transcription	Gastric	stomach
36	chr2:153596400-153619400	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr2:153596600-153617800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr2:153596600-153621400	Weak transcription	Ovary	ovary
39	chr2:153596600-153621400	Weak transcription	Stomach Smooth Muscle	stomach
40	chr2:153596800-153616000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr2:153597000-153617800	Weak transcription	Thymus	Thymus
42	chr2:153597000-153619800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr2:153597600-153620600	Strong transcription	Dnd41	blood
44	chr2:153600400-153613400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr2:153600600-153623400	Weak transcription	Colon Smooth Muscle	Colon
46	chr2:153601400-153619600	Strong transcription	Monocytes-CD14+_RO01746	blood
47	chr2:153602200-153620600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
48	chr2:153602200-153621200	Weak transcription	Fetal Brain Female	brain
49	chr2:153602400-153620600	Weak transcription	Fetal Brain Male	brain
50	chr2:153605200-153615200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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