Variant report

Variant	rs17049221
Chromosome Location	chr2:58108961-58108962
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	chr2:58108798..58111320-chr2:58112288..58115523,3	K562	blood:
2	chr2:58107882..58110920-chr2:58111613..58114646,4	MCF-7	breast:

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

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

rs_ID	r²[population]
rs17049274	1.00[YRI][hapmap]
rs72945341	1.00[AFR][1000 genomes]
rs72947159	0.83[AFR][1000 genomes]
rs72947163	0.83[AFR][1000 genomes]
rs72949133	0.88[AFR][1000 genomes]

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	nsv1007118	chr2:57562051-58147588	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv874196	chr2:57946148-58220320	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv834148	chr2:57979661-58119213	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv1010981	chr2:58013389-58205699	Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv874199	chr2:58031249-58161520	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv834159	chr2:58101262-58283655	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:58105800-58109200	Weak transcription	Colon Smooth Muscle	Colon
2	chr2:58106000-58109800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr2:58106000-58113000	Weak transcription	Brain Germinal Matrix	brain
4	chr2:58106000-58113400	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr2:58106000-58113400	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr2:58106000-58113400	Weak transcription	Pancreas	Pancrea
7	chr2:58106400-58109000	Weak transcription	HSMMtube	muscle
8	chr2:58106400-58113600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr2:58106800-58110000	Weak transcription	Fetal Brain Male	brain
10	chr2:58107000-58109600	Enhancers	Adipose Nuclei	Adipose
11	chr2:58107400-58109200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr2:58107600-58109400	Enhancers	Osteobl	bone
13	chr2:58108000-58109000	Enhancers	Hela-S3	cervix
14	chr2:58108000-58109200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr2:58108000-58109400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr2:58108000-58110600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr2:58108000-58110600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr2:58108000-58110600	Flanking Active TSS	GM12878-XiMat	blood
19	chr2:58108200-58109000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr2:58108200-58109000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr2:58108200-58109200	Enhancers	Brain Cingulate Gyrus	brain
22	chr2:58108200-58109200	Flanking Active TSS	A549	lung
23	chr2:58108200-58109400	Enhancers	Brain Hippocampus Middle	brain
24	chr2:58108200-58109400	Enhancers	Brain Inferior Temporal Lobe	brain
25	chr2:58108200-58109600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr2:58108200-58109600	Enhancers	Brain Anterior Caudate	brain
27	chr2:58108200-58109600	Enhancers	Brain Substantia Nigra	brain
28	chr2:58108200-58110000	Enhancers	HSMM	muscle
29	chr2:58108400-58109000	Enhancers	Pancreatic Islets	Pancreatic Islet
30	chr2:58108600-58109800	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr2:58108600-58109800	Enhancers	NHDF-Ad	bronchial
32	chr2:58108600-58110400	Enhancers	Sigmoid Colon	Sigmoid Colon
33	chr2:58108600-58111600	Weak transcription	Fetal Brain Female	brain
34	chr2:58108800-58109000	Enhancers	Fetal Intestine Large	intestine
35	chr2:58108800-58109000	Enhancers	NHLF	lung
36	chr2:58108800-58109600	Weak transcription	Brain Angular Gyrus	brain
37	chr2:58108800-58109800	Enhancers	HepG2	liver
38	chr2:58108800-58110200	Enhancers	HMEC	breast
39	chr2:58108800-58110400	Enhancers	iPS-15b Cell Line	embryonic stem cell
40	chr2:58108800-58110400	Flanking Active TSS	Muscle Satellite Cultured Cells	--

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