Variant report

Variant	rs547459501
Chromosome Location	chr2:48548768-48548769
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 5 )
Associated
traits (count: 0)

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	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
2	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
3	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
4	nsv874001	chr2:48534363-48624007	Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	12 gene(s)	inside rSNPs	diseases
5	nsv874002	chr2:48547751-48610367	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:48543200-48553200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr2:48543400-48551800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr2:48543400-48552000	Weak transcription	Stomach Mucosa	stomach
4	chr2:48543400-48553000	Weak transcription	Lung	lung
5	chr2:48543400-48553000	Weak transcription	Psoas Muscle	Psoas
6	chr2:48543400-48568600	Weak transcription	HSMM	muscle
7	chr2:48543600-48549200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr2:48543600-48550000	Enhancers	Primary T helper cells fromperipheralblood	blood
9	chr2:48543600-48550200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr2:48543600-48551000	Enhancers	Primary T helper naive cells from peripheral blood	blood
11	chr2:48543600-48552000	Weak transcription	Duodenum Mucosa	Duodenum
12	chr2:48543600-48552200	Weak transcription	Osteobl	bone
13	chr2:48543600-48553200	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr2:48543600-48553400	Weak transcription	Rectal Smooth Muscle	rectum
15	chr2:48543600-48554400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
16	chr2:48543600-48555400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr2:48543600-48556600	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr2:48543600-48559400	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr2:48543600-48561000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
20	chr2:48543600-48570600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr2:48543800-48550000	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr2:48544000-48549800	Enhancers	Primary B cells from peripheral blood	blood
23	chr2:48544000-48550000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
24	chr2:48544200-48549000	Enhancers	Primary B cells from cord blood	blood
25	chr2:48544200-48549400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr2:48544200-48550000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr2:48544200-48559600	Weak transcription	Fetal Kidney	kidney
28	chr2:48544400-48549400	Enhancers	Brain Hippocampus Middle	brain
29	chr2:48544400-48549800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
30	chr2:48544400-48551200	Weak transcription	HUVEC	blood vessel
31	chr2:48544400-48552000	Weak transcription	Hela-S3	cervix
32	chr2:48544400-48556200	Weak transcription	NHDF-Ad	bronchial
33	chr2:48544400-48558600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr2:48544400-48570400	Weak transcription	NHEK	skin
35	chr2:48544400-48570800	Weak transcription	HMEC	breast
36	chr2:48544600-48558600	Weak transcription	Spleen	Spleen
37	chr2:48544600-48564400	Weak transcription	Fetal Intestine Small	intestine
38	chr2:48544800-48559400	Weak transcription	Right Atrium	heart
39	chr2:48545200-48551000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
40	chr2:48545800-48552000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr2:48546000-48550600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr2:48546000-48551800	Weak transcription	Brain Anterior Caudate	brain
43	chr2:48546000-48552000	Weak transcription	Brain Angular Gyrus	brain
44	chr2:48546200-48550200	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr2:48546400-48549200	Weak transcription	Dnd41	blood
46	chr2:48546400-48550000	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr2:48546400-48552000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr2:48546400-48552000	Enhancers	Primary T helper cells PMA-I stimulated	--
49	chr2:48546400-48552000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr2:48546600-48551400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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