Variant report

Variant	rs13417676
Chromosome Location	chr2:33383754-33383755
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:33383408..33387314-chr2:33391651..33394582,3	K562	blood:
2	chr2:33382825..33385246-chr2:33385612..33388538,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11903420	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13398513	1.00[EUR][1000 genomes]
rs13413448	1.00[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17012822	1.00[EUR][1000 genomes]
rs41470344	1.00[EUR][1000 genomes]
rs58911278	0.83[AMR][1000 genomes]
rs72855711	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7584658	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7591623	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	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
7	nsv873790	chr2:33369582-33466483	Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:33360200-33385800	Weak transcription	Placenta	Placenta
2	chr2:33367200-33384000	Weak transcription	K562	blood
3	chr2:33369600-33389800	Weak transcription	Right Atrium	heart
4	chr2:33369800-33404000	Weak transcription	Right Ventricle	heart
5	chr2:33371600-33383800	Weak transcription	HSMMtube	muscle
6	chr2:33371600-33395600	Weak transcription	Psoas Muscle	Psoas
7	chr2:33374000-33384000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr2:33375000-33408400	Weak transcription	Fetal Muscle Leg	muscle
9	chr2:33378600-33384000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr2:33381200-33384000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr2:33382000-33385000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr2:33382000-33386200	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr2:33382200-33383800	Enhancers	NHDF-Ad	bronchial
14	chr2:33382200-33384000	Enhancers	Muscle Satellite Cultured Cells	--
15	chr2:33382200-33384200	Enhancers	NHLF	lung
16	chr2:33382400-33383800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr2:33382400-33384600	Enhancers	NHEK	skin
18	chr2:33382600-33384800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr2:33382600-33384800	Enhancers	Fetal Heart	heart
20	chr2:33382600-33385000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr2:33382800-33384400	Enhancers	Left Ventricle	heart
22	chr2:33382800-33385400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr2:33383000-33384400	Enhancers	Aorta	Aorta
24	chr2:33383000-33385400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr2:33383200-33384400	Enhancers	HSMM	muscle
26	chr2:33383400-33384000	Flanking Active TSS	Osteobl	bone
27	chr2:33383400-33384200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr2:33383400-33384200	Flanking Active TSS	HUVEC	blood vessel
29	chr2:33383400-33384400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr2:33383400-33384400	Enhancers	Fetal Stomach	stomach
31	chr2:33383400-33384400	Enhancers	Ovary	ovary
32	chr2:33383400-33384400	Enhancers	Placenta Amnion	Placenta Amnion
33	chr2:33383400-33384400	Enhancers	HMEC	breast
34	chr2:33383400-33384600	Enhancers	Colon Smooth Muscle	Colon
35	chr2:33383400-33385200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr2:33383600-33383800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr2:33383600-33383800	Enhancers	Stomach Smooth Muscle	stomach
38	chr2:33383600-33383800	Enhancers	NH-A	brain
39	chr2:33383600-33384000	Enhancers	Rectal Smooth Muscle	rectum

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