Variant report

Variant	rs17049414
Chromosome Location	chr2:58440169-58440170
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:58438532..58441136-chr2:58448840..58451034,2	K562	blood:
2	chr2:58437256..58439739-chr2:58439899..58441401,2	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10174202	1.00[ASN][1000 genomes]
rs10176681	1.00[ASN][1000 genomes]
rs10176942	1.00[ASN][1000 genomes]
rs10178025	1.00[ASN][1000 genomes]
rs11883874	1.00[ASN][1000 genomes]
rs17049333	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17049337	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17049338	1.00[ASN][1000 genomes]
rs17049350	1.00[AMR][1000 genomes]
rs2030236	1.00[AMR][1000 genomes]
rs57344611	0.85[AFR][1000 genomes]
rs57442059	1.00[AMR][1000 genomes]
rs57535590	1.00[EUR][1000 genomes]
rs60956789	1.00[AMR][1000 genomes]
rs6739344	1.00[AMR][1000 genomes]
rs72810375	0.85[AFR][1000 genomes]
rs7566805	1.00[AMR][1000 genomes]
rs7574694	1.00[ASN][1000 genomes]
rs7577402	1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9973345	1.00[ASN][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	nsv999042	chr2:58326123-58530903	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv535734	chr2:58326123-58530903	ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1007527	chr2:58386271-58477536	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv535735	chr2:58386271-58477536	Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv458052	chr2:58388696-58450569	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv582098	chr2:58388696-58450569	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	nsv817995	chr2:58390538-58450569	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:58359000-58454000	Weak transcription	Stomach Smooth Muscle	stomach
2	chr2:58391000-58467000	Weak transcription	HMEC	breast
3	chr2:58397800-58442600	Weak transcription	Brain Anterior Caudate	brain
4	chr2:58414000-58461400	Weak transcription	NHEK	skin
5	chr2:58416200-58454200	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr2:58416600-58467200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr2:58421600-58452400	Weak transcription	NH-A	brain
8	chr2:58422000-58442800	Weak transcription	Brain Angular Gyrus	brain
9	chr2:58422000-58454200	Weak transcription	Left Ventricle	heart
10	chr2:58425000-58442200	Weak transcription	Fetal Heart	heart
11	chr2:58425600-58446600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr2:58425800-58446600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr2:58430000-58440400	Weak transcription	Hela-S3	cervix
14	chr2:58431400-58440200	Weak transcription	NHDF-Ad	bronchial
15	chr2:58432000-58445600	Weak transcription	Osteobl	bone
16	chr2:58432000-58466400	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr2:58432200-58442400	Weak transcription	HUVEC	blood vessel
18	chr2:58433600-58454200	Weak transcription	Gastric	stomach
19	chr2:58437000-58460200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr2:58437200-58440800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr2:58437200-58440800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
22	chr2:58437200-58440800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr2:58437200-58441200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr2:58437200-58442400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr2:58437200-58442800	ZNF genes & repeats	GM12878-XiMat	blood
26	chr2:58437200-58459000	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr2:58437400-58440600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
28	chr2:58437400-58440600	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
29	chr2:58437400-58440800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
30	chr2:58437400-58440800	Strong transcription	Rectal Mucosa Donor 29	rectum
31	chr2:58437400-58441000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr2:58437400-58441000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
33	chr2:58437400-58441000	Strong transcription	Fetal Lung	lung
34	chr2:58437400-58441600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr2:58437600-58443200	Weak transcription	Right Atrium	heart
36	chr2:58437800-58456800	Weak transcription	Fetal Kidney	kidney
37	chr2:58438000-58440600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
38	chr2:58438200-58440600	Strong transcription	Rectal Mucosa Donor 31	rectum
39	chr2:58438600-58440800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr2:58438600-58440800	Strong transcription	Fetal Intestine Large	intestine
41	chr2:58438600-58442000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr2:58438600-58442000	Weak transcription	Ovary	ovary
43	chr2:58438600-58442200	Weak transcription	Brain Hippocampus Middle	brain
44	chr2:58438600-58442400	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr2:58438600-58442600	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr2:58438600-58442600	Weak transcription	Brain Cingulate Gyrus	brain
47	chr2:58438600-58443000	Weak transcription	Brain Germinal Matrix	brain
48	chr2:58438600-58443800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr2:58438600-58443800	Weak transcription	Primary neutrophils fromperipheralblood	blood
50	chr2:58438600-58444000	Strong transcription	A549	lung

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