Variant report

Variant	rs558139230
Chromosome Location	chr2:127805919-127805920
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	chr2:127805679..127808550-chr2:127820998..127823785,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000136717	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:20 , 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	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	nsv1014290	chr2:127805366-127860830	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
20	nsv1010084	chr2:127805366-127862257	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:127783800-127815600	Weak transcription	Aorta	Aorta
2	chr2:127795800-127807600	Weak transcription	Brain Germinal Matrix	brain
3	chr2:127798200-127811400	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr2:127799600-127806200	Weak transcription	Brain Angular Gyrus	brain
5	chr2:127800000-127807600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr2:127800200-127807400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr2:127801200-127806000	Weak transcription	NHLF	lung
8	chr2:127801600-127807600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr2:127802000-127818800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr2:127802200-127813600	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr2:127802400-127816000	Weak transcription	Fetal Brain Male	brain
12	chr2:127802400-127822800	Weak transcription	Fetal Kidney	kidney
13	chr2:127803800-127806000	Weak transcription	Colon Smooth Muscle	Colon
14	chr2:127803800-127807400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr2:127803800-127814200	Weak transcription	HSMM	muscle
16	chr2:127804000-127806000	Weak transcription	Brain Cingulate Gyrus	brain
17	chr2:127804000-127807600	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr2:127804000-127808000	Weak transcription	Right Ventricle	heart
19	chr2:127804000-127810600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr2:127804000-127813400	Weak transcription	Primary B cells from cord blood	blood
21	chr2:127804000-127814400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr2:127804200-127806600	Strong transcription	Brain Hippocampus Middle	brain
23	chr2:127804200-127818200	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr2:127804200-127819600	Weak transcription	Osteobl	bone
25	chr2:127804400-127806000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr2:127804400-127806400	Weak transcription	Fetal Thymus	thymus
27	chr2:127804400-127806600	Strong transcription	Brain Anterior Caudate	brain
28	chr2:127804400-127807200	Strong transcription	Brain Inferior Temporal Lobe	brain
29	chr2:127804400-127807200	Strong transcription	Fetal Stomach	stomach
30	chr2:127804400-127807400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr2:127804400-127807400	Strong transcription	Fetal Intestine Small	intestine
32	chr2:127804400-127820000	Genic enhancers	Fetal Muscle Trunk	muscle
33	chr2:127804600-127806800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr2:127804600-127806800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr2:127804600-127806800	Weak transcription	Colonic Mucosa	Colon
36	chr2:127804600-127807200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr2:127804600-127807400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr2:127804600-127807400	Strong transcription	Spleen	Spleen
39	chr2:127804600-127807600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr2:127804600-127807600	Weak transcription	Pancreas	Pancrea
41	chr2:127804600-127810000	Strong transcription	Muscle Satellite Cultured Cells	--
42	chr2:127804600-127811400	Weak transcription	Duodenum Mucosa	Duodenum
43	chr2:127804600-127817400	Genic enhancers	Fetal Muscle Leg	muscle
44	chr2:127804600-127819200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
45	chr2:127804800-127807000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr2:127804800-127807400	Strong transcription	Adipose Nuclei	Adipose
47	chr2:127804800-127808000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
48	chr2:127804800-127809200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr2:127804800-127809400	Genic enhancers	Skeletal Muscle Male	skeletal muscle
50	chr2:127804800-127818200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland

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