Variant report

Variant	rs17407696
Chromosome Location	chr2:63115895-63115896
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	chr2:63113535..63116069-chr2:63274358..63277343,2	K562	blood:

Variant related genes	Relation type
ENSG00000231609	Chromatin interaction
ENSG00000115507	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs12612046	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[ASN][1000 genomes]
rs12613453	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12614162	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs17347994	0.88[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs17432559	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs17432566	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17432580	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs17432615	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs17432663	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17473084	0.84[EUR][1000 genomes]
rs17598689	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs17598881	0.95[ASN][1000 genomes]
rs17657533	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[ASN][1000 genomes]
rs17657580	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[ASN][1000 genomes]
rs1877027	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv535767	chr2:62461582-63413596	Bivalent Enhancer Strong transcription Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	esv3417336	chr2:62957866-63749654	Strong transcription Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv428041	chr2:63027947-63206574	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1006848	chr2:63061816-63631407	Weak transcription Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
5	esv2756598	chr2:63085848-63491438	Strong transcription Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:63102400-63119000	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr2:63102400-63146200	Weak transcription	Aorta	Aorta
3	chr2:63102600-63149800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr2:63102800-63130600	Weak transcription	Fetal Intestine Small	intestine
5	chr2:63102800-63150200	Weak transcription	Esophagus	oesophagus
6	chr2:63104000-63147800	Weak transcription	Fetal Stomach	stomach
7	chr2:63104200-63126600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr2:63104400-63125000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr2:63104600-63133200	Weak transcription	Colon Smooth Muscle	Colon
10	chr2:63105200-63126400	Weak transcription	Rectal Smooth Muscle	rectum
11	chr2:63105800-63130000	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr2:63105800-63130800	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr2:63105800-63134000	Weak transcription	Osteobl	bone
14	chr2:63106000-63121600	Weak transcription	HMEC	breast
15	chr2:63106000-63131600	Weak transcription	Fetal Intestine Large	intestine
16	chr2:63106000-63149600	Weak transcription	Stomach Smooth Muscle	stomach
17	chr2:63106200-63149400	Weak transcription	Ovary	ovary
18	chr2:63106400-63138000	Weak transcription	Fetal Muscle Leg	muscle
19	chr2:63106600-63117000	Weak transcription	NH-A	brain
20	chr2:63107000-63150200	Weak transcription	HSMM	muscle
21	chr2:63107200-63116000	Weak transcription	NHEK	skin
22	chr2:63107200-63122000	Weak transcription	NHLF	lung
23	chr2:63107200-63141600	Weak transcription	Primary B cells from cord blood	blood
24	chr2:63107200-63146000	Weak transcription	Primary hematopoietic stem cells	blood
25	chr2:63107200-63146000	Weak transcription	Left Ventricle	heart
26	chr2:63107400-63121400	Weak transcription	NHDF-Ad	bronchial
27	chr2:63107600-63125800	Weak transcription	Primary T cells from cord blood	blood
28	chr2:63108000-63116600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr2:63108000-63122400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr2:63108000-63126200	Weak transcription	Adipose Nuclei	Adipose
31	chr2:63108200-63122200	Weak transcription	A549	lung
32	chr2:63108200-63129000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr2:63108200-63130000	Weak transcription	Brain Germinal Matrix	brain
34	chr2:63108200-63149200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr2:63108200-63149600	Weak transcription	Fetal Lung	lung
36	chr2:63108400-63123400	Weak transcription	Fetal Kidney	kidney
37	chr2:63108800-63124400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr2:63110600-63127200	Weak transcription	Dnd41	blood
39	chr2:63111400-63121800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr2:63111400-63125600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr2:63112000-63119200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr2:63113000-63121200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr2:63114600-63116000	Genic enhancers	HepG2	liver
44	chr2:63114600-63116200	Enhancers	Liver	Liver
45	chr2:63115400-63116000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr2:63115400-63123200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr2:63115600-63116000	Enhancers	Cortex derived primary cultured neurospheres	brain
48	chr2:63115800-63116000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr2:63115800-63116200	Enhancers	Small Intestine	intestine

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