Variant report

Variant	rs547259026
Chromosome Location	chr2:99088476-99088477
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:99067851..99070035-chr2:99087756..99089685,2	MCF-7	breast:
2	chr2:99087794..99090481-chr2:99092257..99095199,3	K562	blood:
3	chr2:99088177..99090481-chr2:99093421..99095199,2	K562	blood:

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	nsv518056	chr2:98586842-99156296	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv1006328	chr2:98977192-99210376	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv1007244	chr2:99063753-99136472	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	esv3404703	chr2:99087420-99091918	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:99072400-99095000	Weak transcription	Fetal Intestine Large	intestine
2	chr2:99072600-99119600	Weak transcription	Aorta	Aorta
3	chr2:99075600-99091800	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr2:99076400-99095400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr2:99078400-99095600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr2:99080200-99094200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:99080400-99091400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr2:99081400-99095800	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr2:99081800-99091400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr2:99082200-99089800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr2:99082200-99091400	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr2:99082400-99088600	Weak transcription	Psoas Muscle	Psoas
13	chr2:99082400-99090200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
14	chr2:99082600-99088600	Weak transcription	Gastric	stomach
15	chr2:99082600-99096200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr2:99083000-99089600	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr2:99083000-99091000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr2:99083200-99090000	Enhancers	Primary T cells fromperipheralblood	blood
19	chr2:99083200-99091400	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr2:99083200-99091400	Weak transcription	HMEC	breast
21	chr2:99083200-99091800	Weak transcription	NHEK	skin
22	chr2:99083200-99093000	Weak transcription	Fetal Heart	heart
23	chr2:99083200-99094200	Weak transcription	Placenta	Placenta
24	chr2:99083400-99088600	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr2:99083600-99090000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr2:99083600-99090800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr2:99083800-99090000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr2:99083800-99094400	Weak transcription	Dnd41	blood
29	chr2:99084000-99088800	Weak transcription	Brain Angular Gyrus	brain
30	chr2:99084000-99088800	Weak transcription	Colon Smooth Muscle	Colon
31	chr2:99084000-99090000	Enhancers	Primary T helper cells PMA-I stimulated	--
32	chr2:99084000-99090400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
33	chr2:99084000-99091600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr2:99084200-99090000	Weak transcription	Primary hematopoietic stem cells	blood
35	chr2:99084200-99090000	Enhancers	Primary T killer memory cells from peripheral blood	blood
36	chr2:99084200-99090600	Weak transcription	Fetal Brain Female	brain
37	chr2:99084800-99095600	Weak transcription	Fetal Kidney	kidney
38	chr2:99085200-99089400	Enhancers	Fetal Muscle Leg	muscle
39	chr2:99085200-99090200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
40	chr2:99085400-99088600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr2:99085400-99089800	Enhancers	Primary T helper naive cells from peripheral blood	blood
42	chr2:99085400-99090000	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr2:99085400-99091000	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr2:99085600-99088600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr2:99085600-99088600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr2:99085600-99089000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr2:99085600-99091400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr2:99085600-99091600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr2:99085600-99092800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr2:99085800-99095600	Weak transcription	Muscle Satellite Cultured Cells	--

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