Variant report

Variant	rs572207863
Chromosome Location	chr2:32533010-32533011
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:32531368..32534340-chr2:32540006..32541759,2	K562	blood:
2	chr2:32530589..32533146-chr2:32542840..32545363,2	K562	blood:
3	chr2:32531197..32533146-chr2:32542840..32545023,2	K562	blood:
4	chr2:32514023..32515900-chr2:32531740..32534378,2	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949102	chr2:32030307-33011548	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv817386	chr2:32332893-32724794	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv1001038	chr2:32333378-32657112	Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv1009359	chr2:32333378-32725117	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
5	nsv535613	chr2:32333378-32725117	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
6	esv2422335	chr2:32412330-33200581	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
7	nsv1002120	chr2:32470452-32539443	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv1004279	chr2:32470452-32543369	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	nsv533153	chr2:32514528-33249136	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
10	nsv979327	chr2:32532575-32554303	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:32504000-32537600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr2:32504000-32540200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr2:32504000-32549400	Weak transcription	HSMMtube	muscle
4	chr2:32504800-32537600	Weak transcription	Fetal Brain Male	brain
5	chr2:32507800-32550000	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr2:32508400-32534200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr2:32514000-32553000	Weak transcription	Small Intestine	intestine
8	chr2:32514200-32555800	Weak transcription	Colonic Mucosa	Colon
9	chr2:32514800-32541000	Weak transcription	Colon Smooth Muscle	Colon
10	chr2:32515000-32533400	Weak transcription	NHLF	lung
11	chr2:32515400-32538800	Weak transcription	NHEK	skin
12	chr2:32515800-32533200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr2:32517200-32536200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr2:32517400-32553200	Weak transcription	Stomach Mucosa	stomach
15	chr2:32519200-32533200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr2:32520200-32533400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr2:32520200-32537200	Strong transcription	Monocytes-CD14+_RO01746	blood
18	chr2:32520600-32535600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr2:32520600-32537400	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr2:32520600-32541800	Weak transcription	Brain Substantia Nigra	brain
21	chr2:32520800-32533400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr2:32521000-32535200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr2:32521000-32554600	Weak transcription	Ovary	ovary
24	chr2:32521200-32533600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr2:32521800-32552400	Weak transcription	Fetal Kidney	kidney
26	chr2:32522200-32533400	Strong transcription	Primary monocytes fromperipheralblood	blood
27	chr2:32523200-32533600	Strong transcription	Primary T cells fromperipheralblood	blood
28	chr2:32523400-32547200	Weak transcription	NH-A	brain
29	chr2:32525000-32537400	Weak transcription	Brain Cingulate Gyrus	brain
30	chr2:32525400-32548600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr2:32526200-32533800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr2:32526600-32533800	Weak transcription	K562	blood
33	chr2:32526600-32534200	Weak transcription	HUVEC	blood vessel
34	chr2:32526600-32536000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr2:32526600-32537000	Weak transcription	HMEC	breast
36	chr2:32526600-32541800	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr2:32526800-32548600	Weak transcription	Fetal Brain Female	brain
38	chr2:32528400-32544400	Weak transcription	NHDF-Ad	bronchial
39	chr2:32528600-32534200	Weak transcription	Primary T cells from cord blood	blood
40	chr2:32528600-32534200	Weak transcription	Osteobl	bone
41	chr2:32528600-32535400	Weak transcription	Esophagus	oesophagus
42	chr2:32528600-32556400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr2:32528800-32535400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr2:32528800-32535400	Weak transcription	Left Ventricle	heart
45	chr2:32528800-32535600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr2:32528800-32535600	Weak transcription	Fetal Lung	lung
47	chr2:32528800-32538400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
48	chr2:32528800-32538400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
49	chr2:32528800-32539400	Weak transcription	Pancreas	Pancrea
50	chr2:32528800-32547200	Weak transcription	Lung	lung

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