Variant report

Variant	rs554330109
Chromosome Location	chr1:180749858-180749859
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv872578	chr1:180510771-180842344	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv3777	chr1:180741213-180780313	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv548346	chr1:180747033-180755321	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	esv3492942	chr1:180748679-180756477	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
5	esv3492947	chr1:180749054-180756402	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
6	esv3492945	chr1:180749543-180756750	Enhancers Weak transcription Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
7	esv3492946	chr1:180749637-180755448	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
8	esv3452584	chr1:180749640-180755552	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
9	esv3492943	chr1:180749676-180755458	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
10	esv3492944	chr1:180749764-180755403	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
11	nsv498695	chr1:180749768-180755398	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
12	esv3452585	chr1:180749769-180755398	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
13	esv3492948	chr1:180749769-180755398	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:180713000-180814200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr1:180722600-180751000	Weak transcription	Left Ventricle	heart
3	chr1:180738000-180751200	Weak transcription	Brain Anterior Caudate	brain
4	chr1:180740200-180751000	Weak transcription	Fetal Brain Female	brain
5	chr1:180740200-180753000	Weak transcription	Small Intestine	intestine
6	chr1:180740200-180761000	Weak transcription	Psoas Muscle	Psoas
7	chr1:180740800-180775600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr1:180741000-180757200	Weak transcription	Primary B cells from cord blood	blood
9	chr1:180741600-180784000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr1:180743400-180757200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr1:180743400-180763000	Weak transcription	HSMM	muscle
12	chr1:180744000-180757200	Weak transcription	Primary T cells from cord blood	blood
13	chr1:180744400-180751000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr1:180746600-180751400	Weak transcription	Fetal Brain Male	brain
15	chr1:180747000-180756800	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr1:180747800-180761000	Weak transcription	Aorta	Aorta
17	chr1:180748200-180755800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr1:180749400-180761200	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr1:180749600-180761200	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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