Variant report

Variant	rs540500727
Chromosome Location	chr2:100859594-100859595
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:100794586..100795120-chr2:100859430..100860008,2	MCF-7	breast:
2	chr2:100342067..100342601-chr2:100859227..100860029,2	MCF-7	breast:
3	chr2:100794357..100794858-chr2:100859167..100859857,2	MCF-7	breast:
4	chr2:100435460..100437082-chr2:100859108..100860161,5	MCF-7	breast:
5	chr2:100550269..100550963-chr2:100859433..100860005,2	MCF-7	breast:

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007777	chr2:100816913-101308914	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv535844	chr2:100816913-101308914	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv834311	chr2:100816917-100990036	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	esv3445033	chr2:100859514-100859774	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:100855200-100865600	Weak transcription	Thymus	Thymus
2	chr2:100856600-100862800	Weak transcription	Fetal Brain Male	brain
3	chr2:100857200-100862800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr2:100858000-100860400	Enhancers	Fetal Lung	lung
5	chr2:100858000-100862800	Enhancers	Primary B cells from peripheral blood	blood
6	chr2:100858200-100859800	Enhancers	Placenta	Placenta
7	chr2:100858400-100867800	Enhancers	Primary B cells from cord blood	blood
8	chr2:100858600-100859800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr2:100858600-100859800	Enhancers	Fetal Muscle Leg	muscle
10	chr2:100858600-100863000	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr2:100858800-100859800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr2:100858800-100859800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
13	chr2:100859000-100859600	Enhancers	Duodenum Mucosa	Duodenum
14	chr2:100859000-100859600	Enhancers	Fetal Intestine Small	intestine
15	chr2:100859000-100859600	Enhancers	Left Ventricle	heart
16	chr2:100859000-100859600	Enhancers	Lung	lung
17	chr2:100859000-100859600	Enhancers	Skeletal Muscle Male	skeletal muscle
18	chr2:100859000-100859600	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr2:100859000-100859800	Enhancers	Adipose Nuclei	Adipose
20	chr2:100859000-100859800	Enhancers	Liver	Liver
21	chr2:100859000-100859800	Enhancers	Fetal Thymus	thymus
22	chr2:100859200-100859600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr2:100859200-100859600	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr2:100859200-100859600	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr2:100859200-100859600	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr2:100859200-100859600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
27	chr2:100859200-100859600	Enhancers	Stomach Mucosa	stomach
28	chr2:100859200-100859600	Enhancers	GM12878-XiMat	blood
29	chr2:100859200-100859800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
30	chr2:100859200-100859800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
31	chr2:100859400-100859600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
32	chr2:100859400-100859600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr2:100859400-100860000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
34	chr2:100859400-100861600	Weak transcription	Osteobl	bone
35	chr2:100859400-100863000	Weak transcription	Right Ventricle	heart
36	chr2:100859400-100863600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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