Variant report

Variant	rs551004972
Chromosome Location	chr2:184530479-184530480
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

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	nsv1012672	chr2:184363204-184571778	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	esv2757843	chr2:184368473-184558908	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	esv2759105	chr2:184368473-184558908	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv428729	chr2:184368473-184558908	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv583952	chr2:184495927-184594404	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv869960	chr2:184502527-184639318	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv1010253	chr2:184508963-184573763	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:184529800-184530600	Enhancers	Pancreatic Islets	Pancreatic Islet
2	chr2:184529800-184531400	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr2:184529800-184531800	Enhancers	iPS-20b Cell Line	embryonic stem cell
4	chr2:184529800-184531800	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr2:184530000-184530800	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr2:184530000-184531200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr2:184530000-184531200	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr2:184530000-184531200	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr2:184530000-184531800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr2:184530200-184530600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr2:184530200-184530600	Active TSS	Rectal Mucosa Donor 31	rectum
12	chr2:184530200-184530600	Enhancers	Skeletal Muscle Female	skeletal muscle
13	chr2:184530200-184530800	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr2:184530200-184531200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
15	chr2:184530200-184531200	Enhancers	Muscle Satellite Cultured Cells	--
16	chr2:184530200-184531200	Enhancers	Fetal Stomach	stomach
17	chr2:184530200-184531600	Enhancers	Brain Anterior Caudate	brain
18	chr2:184530200-184531800	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr2:184530200-184531800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr2:184530200-184531800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr2:184530400-184530600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
22	chr2:184530400-184530800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr2:184530400-184530800	Enhancers	Colon Smooth Muscle	Colon
24	chr2:184530400-184530800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
25	chr2:184530400-184531200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr2:184530400-184531200	Enhancers	Duodenum Smooth Muscle	Duodenum
27	chr2:184530400-184531200	Enhancers	NH-A	brain
28	chr2:184530400-184531800	Enhancers	HSMMtube	muscle

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