Variant report

Variant	rs34125829
Chromosome Location	chr2:33362671-33362672
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:33357374..33360115-chr2:33361788..33364595,2	K562	blood:
2	chr2:33360698..33363585-chr2:33365349..33368333,2	K562	blood:
3	chr2:33360506..33363015-chr2:33369952..33372450,2	K562	blood:
4	chr2:33355814..33359074-chr2:33359730..33364790,5	K562	blood:

Variant related genes	Relation type
ENSG00000049323	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10196459	1.00[AFR][1000 genomes]
rs12712334	1.00[AFR][1000 genomes]
rs12712336	1.00[AFR][1000 genomes]
rs13022793	1.00[AFR][1000 genomes]
rs71446093	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv998167	chr2:33074313-33541100	Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	nsv535623	chr2:33074313-33541100	Genic enhancers Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv1005435	chr2:33136117-33747159	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
4	nsv535624	chr2:33136117-33747159	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
5	esv33628	chr2:33257484-33455355	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv1012946	chr2:33294522-33370391	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	nsv535626	chr2:33294522-33370391	Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
8	nsv873789	chr2:33297967-33390188	Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:33358800-33363200	Active TSS	Duodenum Smooth Muscle	Duodenum
2	chr2:33358800-33371600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:33359000-33362800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr2:33359000-33362800	Active TSS	Aorta	Aorta
5	chr2:33359000-33363000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr2:33359000-33363000	Active TSS	Stomach Smooth Muscle	stomach
7	chr2:33359200-33362800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr2:33359200-33362800	Active TSS	NHDF-Ad	bronchial
9	chr2:33359200-33362800	Active TSS	NHLF	lung
10	chr2:33360000-33363000	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr2:33360000-33363200	Enhancers	Primary neutrophils fromperipheralblood	blood
12	chr2:33360000-33367400	Weak transcription	Lung	lung
13	chr2:33360000-33373000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr2:33360000-33378400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr2:33360200-33362800	Enhancers	Fetal Heart	heart
16	chr2:33360200-33362800	Active TSS	NH-A	brain
17	chr2:33360200-33372600	Weak transcription	Liver	Liver
18	chr2:33360200-33385800	Weak transcription	Placenta	Placenta
19	chr2:33360600-33366600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr2:33361000-33366000	Weak transcription	K562	blood
21	chr2:33361200-33363600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr2:33361200-33367400	Weak transcription	Brain Cingulate Gyrus	brain
23	chr2:33361400-33363400	Enhancers	Colon Smooth Muscle	Colon
24	chr2:33361400-33366200	Weak transcription	Left Ventricle	heart
25	chr2:33361600-33363200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr2:33361800-33363000	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr2:33361800-33366600	Weak transcription	Fetal Brain Male	brain
28	chr2:33361800-33367400	Weak transcription	Fetal Muscle Trunk	muscle
29	chr2:33362000-33362800	Weak transcription	Fetal Muscle Leg	muscle
30	chr2:33362000-33363000	Weak transcription	Right Ventricle	heart
31	chr2:33362000-33363200	Enhancers	Fetal Lung	lung
32	chr2:33362000-33363400	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr2:33362000-33364400	Weak transcription	Fetal Stomach	stomach
34	chr2:33362000-33367800	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr2:33362000-33368400	Weak transcription	Brain Hippocampus Middle	brain
36	chr2:33362200-33367800	Weak transcription	Brain Anterior Caudate	brain
37	chr2:33362400-33362800	Weak transcription	Rectal Smooth Muscle	rectum
38	chr2:33362400-33363000	Flanking Active TSS	Osteobl	bone
39	chr2:33362400-33363200	Enhancers	Right Atrium	heart
40	chr2:33362600-33362800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr2:33362600-33363000	Weak transcription	Psoas Muscle	Psoas
42	chr2:33362600-33363200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr2:33362600-33363200	Enhancers	Ovary	ovary
44	chr2:33362600-33363400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr2:33362600-33363400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
46	chr2:33362600-33382400	Weak transcription	HUVEC	blood vessel

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