Variant report

Variant	rs547759028
Chromosome Location	chr2:100104723-100104724
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:100099713..100102517-chr2:100102817..100104971,3	MCF-7	breast:
2	chr2:100075556..100080404-chr2:100103648..100108163,7	K562	blood:
3	chr2:100064922..100067755-chr2:100103657..100105818,3	MCF-7	breast:
4	chr2:99950324..99955285-chr2:100104603..100108030,8	MCF-7	breast:
5	chr2:99951055..99957153-chr2:100104418..100108530,14	K562	blood:
6	chr2:100104533..100107300-chr2:100936927..100940750,3	MCF-7	breast:
7	chr2:99951256..99955616-chr2:100104663..100107649,9	K562	blood:
8	chr2:100103127..100105220-chr2:100105235..100107072,2	MCF-7	breast:
9	chr2:100045644..100048567-chr2:100103283..100105124,2	K562	blood:
10	chr2:100091970..100094649-chr2:100104238..100106048,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000158417	Chromatin interaction
ENSG00000170500	Chromatin interaction
ENSG00000135945	Chromatin interaction
ENSG00000115514	Chromatin interaction

Extended variants
information (count: 67 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:67 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv431424	chr2:99652682-100494682	Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv962113	chr2:100022168-100317461	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv535841	chr2:100072790-100112121	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	esv1811477	chr2:100089078-100105013	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
5	esv1810220	chr2:100094799-100105013	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
6	esv1806302	chr2:100094799-100123030	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	esv3457028	chr2:100101720-100107018	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
8	esv3487602	chr2:100102570-100106918	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
9	esv2555492	chr2:100102701-100105388	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS	Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
10	esv3457027	chr2:100103045-100105893	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
11	esv3457029	chr2:100103118-100105501	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
12	esv3457031	chr2:100103350-100105315	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription	Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
13	nsv821279	chr2:100103534-100105532	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
14	nsv829580	chr2:100103534-100105532	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
15	esv2052109	chr2:100103541-100105185	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription	Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
16	nsv511799	chr2:100103603-100105064	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
17	esv3457025	chr2:100103606-100105112	Active TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Strong transcription	Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
18	esv3487603	chr2:100103611-100105038	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
19	esv3487605	chr2:100103613-100105121	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
20	esv3487601	chr2:100103627-100105069	Flanking Active TSS Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
21	esv3457032	chr2:100103637-100105103	Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
22	esv3457026	chr2:100103641-100105099	Active TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent/Poised TSS	Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
23	esv3457033	chr2:100103647-100105059	Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription	Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
24	esv3487604	chr2:100103661-100105082	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
25	esv4405	chr2:100103677-100105127	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
26	esv3457034	chr2:100103714-100105032	Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription	Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
27	esv3487606	chr2:100103714-100105032	Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
28	esv17174	chr2:100103724-100105212	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
29	esv1005386	chr2:100103724-100105472	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
30	esv1004873	chr2:100103740-100105065	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
31	nsv829582	chr2:100103740-100105065	Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS	Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
32	esv1843390	chr2:100103740-100106224	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription ZNF genes & repeats	Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
33	nsv582522	chr2:100103752-100104957	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
34	esv1797210	chr2:100103752-100105013	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS	Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
35	esv1797804	chr2:100103752-100105013	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
36	esv1801942	chr2:100103752-100105013	Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
37	esv1803780	chr2:100103752-100105013	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent/Poised TSS	Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
38	esv1804278	chr2:100103752-100105013	Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS	Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
39	esv1805043	chr2:100103752-100105013	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
40	esv1805145	chr2:100103752-100105013	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS	Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
41	esv1805292	chr2:100103752-100105013	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
42	esv1805330	chr2:100103752-100105013	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
43	esv1806324	chr2:100103752-100105013	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
44	esv1809570	chr2:100103752-100105013	Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent/Poised TSS	Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
45	esv1809675	chr2:100103752-100105013	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription	Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
46	esv1810458	chr2:100103752-100105013	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
47	esv1810655	chr2:100103752-100105013	Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
48	esv1811207	chr2:100103752-100105013	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers	Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
49	esv1812157	chr2:100103752-100105013	Enhancers Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS	Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
50	esv1813415	chr2:100103752-100105013	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:100076200-100105000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:100078800-100105000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr2:100088000-100104800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr2:100092800-100105000	Weak transcription	Placenta	Placenta
5	chr2:100094800-100104800	Weak transcription	Colonic Mucosa	Colon
6	chr2:100097200-100105000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr2:100098600-100105200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr2:100098600-100105200	Weak transcription	Gastric	stomach
9	chr2:100098800-100104800	Weak transcription	Spleen	Spleen
10	chr2:100098800-100105000	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr2:100098800-100105200	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr2:100099000-100105000	Weak transcription	Pancreas	Pancrea
13	chr2:100100800-100105000	Weak transcription	Esophagus	oesophagus
14	chr2:100101000-100105000	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr2:100101200-100105000	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr2:100101600-100105000	Weak transcription	Brain Angular Gyrus	brain
17	chr2:100102200-100105000	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr2:100102400-100104800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr2:100102400-100105000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr2:100102400-100105000	Enhancers	Colon Smooth Muscle	Colon
21	chr2:100102600-100105000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr2:100102600-100105000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr2:100102600-100105000	Weak transcription	Lung	lung
24	chr2:100102800-100104800	Enhancers	Liver	Liver
25	chr2:100103000-100105000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
26	chr2:100103000-100105000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
27	chr2:100103000-100105000	Enhancers	Brain Cingulate Gyrus	brain
28	chr2:100103200-100104800	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr2:100103200-100104800	Enhancers	Adipose Nuclei	Adipose
30	chr2:100103400-100104800	Enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr2:100103400-100104800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr2:100103600-100104800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr2:100103600-100104800	Weak transcription	Rectal Smooth Muscle	rectum
34	chr2:100103600-100105000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr2:100103600-100105000	Enhancers	Primary monocytes fromperipheralblood	blood
36	chr2:100103600-100105000	Enhancers	Primary T cells from cord blood	blood
37	chr2:100103600-100105000	Enhancers	Primary T cells fromperipheralblood	blood
38	chr2:100103600-100105000	Enhancers	Primary hematopoietic stem cells	blood
39	chr2:100103600-100105000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr2:100103600-100105000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
41	chr2:100103600-100105000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr2:100103600-100105000	Weak transcription	Fetal Muscle Leg	muscle
43	chr2:100103600-100105000	Weak transcription	Fetal Stomach	stomach
44	chr2:100103600-100105000	Weak transcription	Psoas Muscle	Psoas
45	chr2:100103600-100105000	Weak transcription	Small Intestine	intestine
46	chr2:100103600-100107400	Active TSS	HUES6 Cell Line	embryonic stem cell
47	chr2:100103800-100104800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr2:100103800-100104800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr2:100103800-100104800	Weak transcription	Primary neutrophils fromperipheralblood	blood
50	chr2:100103800-100104800	Enhancers	Primary T helper cells PMA-I stimulated	--

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