Variant report

Variant	rs559005826
Chromosome Location	chr2:96012703-96012704
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	chr2:95831424..95833102-chr2:96012448..96013993,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000163067	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817258	chr2:95618109-96340788	Enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Weak transcription 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	59 gene(s)	inside rSNPs	diseases
2	nsv1008945	chr2:95745367-96062107	Weak transcription Enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv817299	chr2:95799814-96159275	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
4	nsv998370	chr2:95897299-96074071	Flanking Active TSS Active TSS Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv535823	chr2:95897299-96074071	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	nsv998014	chr2:95913278-96296630	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
7	nsv528011	chr2:95931218-96057011	ZNF genes & repeats Enhancers Bivalent Enhancer Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv1010831	chr2:95935648-96074213	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
9	nsv535824	chr2:95935648-96074213	Enhancers Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
10	nsv482871	chr2:95936531-96036880	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
11	esv2757818	chr2:95970138-96152559	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
12	esv2759076	chr2:95970138-96152559	Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
13	nsv998543	chr2:95979772-96074212	Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
14	nsv535825	chr2:95979772-96074212	Strong transcription Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
15	nsv582496	chr2:95999856-96020029	Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
16	nsv829578	chr2:96010192-96015186	Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
17	esv3321815	chr2:96010750-96013598	Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
18	esv3437070	chr2:96011450-96013998	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
19	esv3504135	chr2:96011525-96013598	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
20	esv3504136	chr2:96011525-96013598	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
21	nsv829579	chr2:96011563-96014374	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:96010800-96012800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr2:96011000-96012800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr2:96011000-96012800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr2:96011000-96012800	Active TSS	Brain Anterior Caudate	brain
5	chr2:96011000-96012800	Active TSS	Rectal Smooth Muscle	rectum
6	chr2:96011000-96013000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr2:96011000-96013000	Active TSS	Aorta	Aorta
8	chr2:96011000-96013200	Active TSS	HSMM	muscle
9	chr2:96011200-96012800	Active TSS	Breast Myoepithelial Primary Cells	Breast
10	chr2:96011200-96012800	Active TSS	Gastric	stomach
11	chr2:96011200-96012800	Active TSS	NHDF-Ad	bronchial
12	chr2:96011200-96013000	Bivalent/Poised TSS	Thymus	Thymus
13	chr2:96011200-96013000	Active TSS	NHLF	lung
14	chr2:96011200-96013200	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
15	chr2:96011200-96013200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
16	chr2:96011200-96013200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
17	chr2:96011200-96013400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
18	chr2:96011400-96012800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
19	chr2:96011400-96012800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr2:96011400-96012800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr2:96011400-96012800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr2:96011400-96012800	Active TSS	Esophagus	oesophagus
23	chr2:96011400-96012800	Active TSS	Pancreatic Islets	Pancreatic Islet
24	chr2:96011400-96012800	Active TSS	Ovary	ovary
25	chr2:96011400-96012800	Active TSS	A549	lung
26	chr2:96011400-96013000	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr2:96011400-96013000	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr2:96011400-96013000	Active TSS	Brain Angular Gyrus	brain
29	chr2:96011400-96013000	Active TSS	Brain Cingulate Gyrus	brain
30	chr2:96011400-96013000	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
31	chr2:96011400-96013000	Active TSS	Placenta Amnion	Placenta Amnion
32	chr2:96011400-96013200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
33	chr2:96011400-96013200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
34	chr2:96011400-96013200	Active TSS	Left Ventricle	heart
35	chr2:96011400-96013200	Active TSS	Right Atrium	heart
36	chr2:96011600-96012800	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
37	chr2:96011600-96012800	Bivalent/Poised TSS	Fetal Brain Female	brain
38	chr2:96011800-96012800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr2:96011800-96012800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr2:96011800-96012800	Active TSS	Rectal Mucosa Donor 31	rectum
41	chr2:96011800-96012800	Active TSS	Sigmoid Colon	Sigmoid Colon
42	chr2:96011800-96012800	Active TSS	HMEC	breast
43	chr2:96011800-96013000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr2:96011800-96013200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
45	chr2:96011800-96013200	Active TSS	Skeletal Muscle Female	skeletal muscle
46	chr2:96012000-96012800	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr2:96012000-96012800	Active TSS	Brain Hippocampus Middle	brain
48	chr2:96012000-96012800	Weak transcription	Brain Substantia Nigra	brain
49	chr2:96012000-96013000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr2:96012000-96013000	Active TSS	NH-A	brain

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