Variant report

Variant	rs192083098
Chromosome Location	chr2:127803890-127803891
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:127800876..127803938-chr2:127806149..127808710,3	MCF-7	breast:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999422	chr2:127464647-127956543	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv1004930	chr2:127477369-127938234	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv459230	chr2:127771006-127844735	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv583032	chr2:127771006-127844735	Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1003730	chr2:127794288-127860830	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
6	nsv1003461	chr2:127794288-127862257	Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Enhancers Weak transcription Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv516759	chr2:127796666-127859441	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
8	nsv1000994	chr2:127797089-127860830	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
9	esv1825024	chr2:127798138-127864285	Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	esv3407788	chr2:127799382-127804180	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
11	nsv459241	chr2:127800981-127868435	Genic enhancers Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	nsv583033	chr2:127800981-127868435	Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
13	nsv875011	chr2:127800981-127868435	Genic enhancers Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
14	nsv875012	chr2:127800981-127895573	Enhancers ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Strong transcription 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	5 gene(s)	inside rSNPs	diseases
15	nsv1002673	chr2:127801964-127860830	Enhancers Transcr. at gene 5' and 3' Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
16	nsv1010577	chr2:127801964-127862257	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
17	nsv1011224	chr2:127802375-127860830	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
18	nsv1003887	chr2:127802375-127862257	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
19	nsv1009309	chr2:127802730-127862257	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:127783800-127815600	Weak transcription	Aorta	Aorta
2	chr2:127793200-127805400	Weak transcription	Liver	Liver
3	chr2:127795800-127807600	Weak transcription	Brain Germinal Matrix	brain
4	chr2:127797600-127805200	Weak transcription	Primary B cells from peripheral blood	blood
5	chr2:127797800-127805600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr2:127798200-127811400	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr2:127799400-127804800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr2:127799600-127805800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr2:127799600-127805800	Weak transcription	Gastric	stomach
10	chr2:127799600-127806200	Weak transcription	Brain Angular Gyrus	brain
11	chr2:127800000-127807600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr2:127800200-127807400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr2:127801200-127806000	Weak transcription	NHLF	lung
14	chr2:127801600-127807600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr2:127802000-127804400	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr2:127802000-127818800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr2:127802200-127813600	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr2:127802400-127816000	Weak transcription	Fetal Brain Male	brain
19	chr2:127802400-127822800	Weak transcription	Fetal Kidney	kidney
20	chr2:127802600-127804200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr2:127802600-127804400	Enhancers	Fetal Muscle Trunk	muscle
22	chr2:127802600-127804600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr2:127802600-127804600	Enhancers	Fetal Muscle Leg	muscle
24	chr2:127802800-127804000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr2:127802800-127804000	Enhancers	Adipose Nuclei	Adipose
26	chr2:127802800-127804000	Enhancers	Brain Cingulate Gyrus	brain
27	chr2:127802800-127804200	Enhancers	Fetal Stomach	stomach
28	chr2:127802800-127804600	Weak transcription	Spleen	Spleen
29	chr2:127802800-127805400	Weak transcription	Primary T cells from cord blood	blood
30	chr2:127803000-127804000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr2:127803000-127804200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr2:127803000-127804600	Enhancers	Pancreas	Pancrea
33	chr2:127803200-127804000	Enhancers	Brain Hippocampus Middle	brain
34	chr2:127803200-127804000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
35	chr2:127803200-127804400	Enhancers	Muscle Satellite Cultured Cells	--
36	chr2:127803200-127804400	Enhancers	Fetal Lung	lung
37	chr2:127803200-127805400	Weak transcription	Fetal Heart	heart
38	chr2:127803400-127804400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
39	chr2:127803400-127804400	Weak transcription	Brain Anterior Caudate	brain
40	chr2:127803400-127804400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
41	chr2:127803400-127804800	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr2:127803400-127805200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr2:127803600-127804000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr2:127803600-127804400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr2:127803600-127804600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr2:127803600-127805400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr2:127803600-127805400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
48	chr2:127803600-127805400	Weak transcription	Primary T helper cells fromperipheralblood	blood
49	chr2:127803600-127805400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr2:127803600-127805400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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