Variant report

Variant	rs80228657
Chromosome Location	chr3:195848911-195848912
allele	A/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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:195805159..195810209-chr3:195847550..195859709,26	K562	blood:
2	chr3:195848558..195851598-chr3:195859122..195863059,3	K562	blood:
3	chr3:195827209..195829366-chr3:195848602..195851417,2	K562	blood:
4	chr3:195845503..195851425-chr3:195859330..195864075,7	K562	blood:
5	chr3:195847228..195849755-chr3:195852083..195855531,3	K562	blood:
6	chr3:195845862..195849621-chr3:195867758..195871280,4	K562	blood:
7	chr3:195845862..195855651-chr3:195867758..195873687,15	K562	blood:
8	chr3:195807559..195809816-chr3:195846125..195849050,2	K562	blood:
9	chr3:195806016..195810377-chr3:195847208..195852318,8	MCF-7	breast:
10	chr3:195844985..195846760-chr3:195848231..195850908,2	K562	blood:
11	chr3:195806735..195810296-chr3:195847657..195851080,6	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000072274	Chromatin interaction
ENSG00000224652	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2759213	chr3:195102787-196071593	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
2	esv2757913	chr3:195379484-196071593	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	108 gene(s)	inside rSNPs	diseases
3	nsv532213	chr3:195643944-196063636	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
4	nsv997797	chr3:195658360-196212958	Weak transcription Flanking Active TSS Genic enhancers Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
5	nsv878170	chr3:195677895-195871388	Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
6	nsv878171	chr3:195677895-195959924	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
7	nsv1008512	chr3:195709662-195974936	Strong transcription Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
8	nsv1002584	chr3:195734933-195910772	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
9	nsv432543	chr3:195746690-196015690	Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
10	nsv532214	chr3:195762648-195916068	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
11	nsv1002065	chr3:195769609-195877692	Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
12	nsv1009105	chr3:195769609-195984388	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
13	nsv461130	chr3:195776240-195907653	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
14	nsv593069	chr3:195776240-195907653	Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
15	nsv1005558	chr3:195789462-195919077	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
16	nsv536890	chr3:195789462-195919077	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
17	nsv998042	chr3:195840858-195934070	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
18	nsv878173	chr3:195848264-195889626	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:195835600-195850000	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr3:195835800-195853800	Weak transcription	Duodenum Mucosa	Duodenum
3	chr3:195842600-195851200	Enhancers	Primary hematopoietic stem cells	blood
4	chr3:195845200-195849800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr3:195845200-195854400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr3:195846200-195852000	Enhancers	Placenta	Placenta
7	chr3:195846400-195850200	Enhancers	Fetal Thymus	thymus
8	chr3:195846800-195849600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
9	chr3:195846800-195849600	Enhancers	Fetal Lung	lung
10	chr3:195847000-195849000	Enhancers	Primary T killer memory cells from peripheral blood	blood
11	chr3:195847000-195849800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
12	chr3:195847000-195850200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr3:195847000-195850200	Enhancers	Ovary	ovary
14	chr3:195847000-195850400	Enhancers	Primary B cells from peripheral blood	blood
15	chr3:195847000-195850400	Enhancers	Primary T cells fromperipheralblood	blood
16	chr3:195847000-195850400	Enhancers	Dnd41	blood
17	chr3:195847000-195850600	Enhancers	Primary neutrophils fromperipheralblood	blood
18	chr3:195847000-195851000	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr3:195847200-195849000	Enhancers	Primary T helper cells PMA-I stimulated	--
20	chr3:195847200-195849000	Enhancers	Primary T helper cells fromperipheralblood	blood
21	chr3:195847200-195849000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr3:195847200-195849000	Enhancers	HepG2	liver
23	chr3:195847200-195849600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
24	chr3:195847200-195849600	Enhancers	Fetal Intestine Large	intestine
25	chr3:195847200-195849600	Enhancers	Thymus	Thymus
26	chr3:195847200-195850000	Enhancers	Primary T cells from cord blood	blood
27	chr3:195847200-195850200	Enhancers	Adipose Nuclei	Adipose
28	chr3:195847400-195849800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
29	chr3:195847400-195851400	Weak transcription	Right Atrium	heart
30	chr3:195847600-195849400	Enhancers	Primary T helper naive cells from peripheral blood	blood
31	chr3:195847800-195850000	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr3:195848400-195853800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr3:195848400-195853800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr3:195848600-195849400	Weak transcription	Fetal Intestine Small	intestine
35	chr3:195848600-195850200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr3:195848600-195853400	Weak transcription	Lung	lung
37	chr3:195848600-195853600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr3:195848600-195854000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr3:195848600-195861400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr3:195848800-195849000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr3:195848800-195849000	Flanking Active TSS	K562	blood
42	chr3:195848800-195849200	Weak transcription	Primary B cells from cord blood	blood
43	chr3:195848800-195849200	Weak transcription	Fetal Muscle Trunk	muscle
44	chr3:195848800-195849200	Weak transcription	Spleen	Spleen
45	chr3:195848800-195849200	Weak transcription	GM12878-XiMat	blood
46	chr3:195848800-195849400	Enhancers	Primary hematopoietic stem cells short term culture	blood
47	chr3:195848800-195849600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
48	chr3:195848800-195850200	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr3:195848800-195854000	Weak transcription	Esophagus	oesophagus

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