Variant report

Variant	rs17012767
Chromosome Location	chr2:33517122-33517123
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	chr2:33508125..33510502-chr2:33516735..33518824,2	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11895736	1.00[YRI][hapmap]
rs17012811	1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs17038526	1.00[AFR][1000 genomes]
rs17644939	1.00[YRI][hapmap]
rs7557776	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 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	nsv873791	chr2:33489975-33586776	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
6	nsv1011020	chr2:33508811-33527784	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:33492400-33547400	Weak transcription	Fetal Intestine Small	intestine
2	chr2:33501200-33528800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr2:33501800-33517800	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr2:33502600-33537000	Weak transcription	Fetal Intestine Large	intestine
5	chr2:33503600-33518200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr2:33505000-33526200	Weak transcription	Placenta	Placenta
7	chr2:33507000-33528600	Weak transcription	Fetal Muscle Trunk	muscle
8	chr2:33515200-33519200	Enhancers	Fetal Heart	heart
9	chr2:33515800-33517200	Enhancers	Fetal Brain Female	brain
10	chr2:33515800-33517800	Enhancers	Sigmoid Colon	Sigmoid Colon
11	chr2:33516000-33517200	Flanking Active TSS	A549	lung
12	chr2:33516000-33517400	Flanking Active TSS	HUVEC	blood vessel
13	chr2:33516000-33517800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr2:33516200-33517200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr2:33516200-33517200	Flanking Active TSS	NH-A	brain
16	chr2:33516400-33517200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr2:33516400-33517200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
18	chr2:33516400-33517200	Active TSS	Pancreatic Islets	Pancreatic Islet
19	chr2:33516400-33517200	Active TSS	Rectal Mucosa Donor 29	rectum
20	chr2:33516400-33517200	Flanking Active TSS	Rectal Smooth Muscle	rectum
21	chr2:33516400-33517200	Enhancers	HMEC	breast
22	chr2:33516400-33517200	Flanking Active TSS	NHDF-Ad	bronchial
23	chr2:33516400-33517200	Flanking Active TSS	NHLF	lung
24	chr2:33516400-33517200	Flanking Active TSS	Osteobl	bone
25	chr2:33516400-33517600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr2:33516400-33522000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr2:33516600-33517200	Active TSS	Colonic Mucosa	Colon
28	chr2:33516600-33517200	Flanking Active TSS	Duodenum Mucosa	Duodenum
29	chr2:33516600-33517200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
30	chr2:33516600-33517200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
31	chr2:33516600-33517200	Flanking Active TSS	Stomach Mucosa	stomach
32	chr2:33516600-33517200	Flanking Active TSS	Stomach Smooth Muscle	stomach
33	chr2:33516600-33517200	Flanking Active TSS	Hela-S3	cervix
34	chr2:33516600-33517200	Flanking Active TSS	HSMMtube	muscle
35	chr2:33516800-33517200	Flanking Active TSS	Brain Angular Gyrus	brain
36	chr2:33516800-33517200	Active TSS	Brain Anterior Caudate	brain
37	chr2:33516800-33517200	Flanking Active TSS	Brain Substantia Nigra	brain
38	chr2:33516800-33517200	Active TSS	Colon Smooth Muscle	Colon
39	chr2:33517000-33517200	Active TSS	Adipose Nuclei	Adipose
40	chr2:33517000-33517200	Enhancers	Liver	Liver
41	chr2:33517000-33517200	Enhancers	Brain Hippocampus Middle	brain
42	chr2:33517000-33517200	Active TSS	Brain Inferior Temporal Lobe	brain
43	chr2:33517000-33517200	Active TSS	Fetal Brain Male	brain
44	chr2:33517000-33517200	Flanking Active TSS	Fetal Kidney	kidney
45	chr2:33517000-33517200	Enhancers	Fetal Lung	lung
46	chr2:33517000-33517200	Active TSS	Ovary	ovary
47	chr2:33517000-33517200	Active TSS	Skeletal Muscle Male	skeletal muscle
48	chr2:33517000-33517200	Enhancers	HepG2	liver
49	chr2:33517000-33517200	Enhancers	HSMM	muscle
50	chr2:33517000-33517600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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