Variant report

Variant	rs60068013
Chromosome Location	chr2:48435582-48435583
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	chr2:48434273..48436933-chr2:48509087..48510604,2	K562	blood:
2	chr2:48432585..48437809-chr2:48438116..48442314,6	K562	blood:

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

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10186770	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10197197	0.91[ASN][1000 genomes]
rs11678411	0.90[ASN][1000 genomes]
rs62137435	0.83[ASN][1000 genomes]
rs67114103	0.88[ASN][1000 genomes]
rs7578930	0.88[ASN][1000 genomes]
rs7583634	0.91[ASN][1000 genomes]
rs7589085	0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009769	chr2:47972642-48509765	Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv535680	chr2:47972642-48509765	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv530831	chr2:48059709-48632317	Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	nsv519831	chr2:48072855-48566031	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	nsv1003766	chr2:48102244-48559654	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
6	nsv581773	chr2:48277490-48443109	Flanking Active TSS Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
7	nsv1005241	chr2:48413134-48493182	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	esv2762552	chr2:48413146-48493182	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv457407	chr2:48414735-48493182	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv581774	chr2:48414735-48493182	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	nsv1001850	chr2:48421389-48492090	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
12	nsv535681	chr2:48421389-48492090	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:48423800-48435800	Weak transcription	Right Atrium	heart
2	chr2:48426200-48436200	Weak transcription	Right Ventricle	heart
3	chr2:48426800-48436400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr2:48432800-48436400	Weak transcription	HSMMtube	muscle
5	chr2:48432800-48438200	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr2:48433000-48435800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr2:48433000-48436200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr2:48433000-48436400	Weak transcription	Fetal Muscle Leg	muscle
9	chr2:48433000-48438200	Weak transcription	Gastric	stomach
10	chr2:48433200-48435800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr2:48433200-48435800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr2:48433200-48435800	Weak transcription	NHLF	lung
13	chr2:48433200-48437000	Enhancers	HepG2	liver
14	chr2:48433200-48437200	Enhancers	Brain Substantia Nigra	brain
15	chr2:48433400-48435800	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr2:48433400-48435800	Weak transcription	HSMM	muscle
17	chr2:48433400-48435800	Weak transcription	Osteobl	bone
18	chr2:48433400-48436000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr2:48433400-48436000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr2:48433400-48436200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr2:48433600-48435800	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr2:48433600-48435800	Weak transcription	NHEK	skin
23	chr2:48433600-48436000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr2:48433600-48436000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr2:48433800-48437000	Enhancers	Primary neutrophils fromperipheralblood	blood
26	chr2:48434000-48435800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr2:48434400-48435800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr2:48434600-48435600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr2:48434600-48435600	Enhancers	Primary hematopoietic stem cells short term culture	blood
30	chr2:48434600-48435800	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr2:48434600-48435800	Weak transcription	NHDF-Ad	bronchial
32	chr2:48434600-48436000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
33	chr2:48434600-48436200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr2:48434600-48436200	Weak transcription	Adipose Nuclei	Adipose
35	chr2:48434600-48436400	Weak transcription	Spleen	Spleen
36	chr2:48434600-48441600	Weak transcription	Psoas Muscle	Psoas
37	chr2:48434800-48435800	Weak transcription	Brain Anterior Caudate	brain
38	chr2:48434800-48435800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr2:48434800-48436000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr2:48434800-48436000	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr2:48434800-48436200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr2:48434800-48436200	Weak transcription	Primary B cells from cord blood	blood
43	chr2:48434800-48436200	Weak transcription	Brain Angular Gyrus	brain
44	chr2:48434800-48436200	Weak transcription	Fetal Intestine Small	intestine
45	chr2:48434800-48436200	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr2:48434800-48436400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr2:48434800-48436400	Weak transcription	Fetal Heart	heart
48	chr2:48434800-48436400	Weak transcription	Left Ventricle	heart
49	chr2:48434800-48437000	Enhancers	iPS-15b Cell Line	embryonic stem cell
50	chr2:48435000-48436000	Weak transcription	Brain Cingulate Gyrus	brain

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