Variant report

Variant	rs547140284
Chromosome Location	chr2:96013071-96013072
allele	C/G
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:
2	chr2:96012877..96014896-chr2:96015583..96018073,2	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:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:96011000-96013200	Active TSS	HSMM	muscle
2	chr2:96011200-96013200	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
3	chr2:96011200-96013200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
4	chr2:96011200-96013200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
5	chr2:96011200-96013400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
6	chr2:96011400-96013200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
7	chr2:96011400-96013200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
8	chr2:96011400-96013200	Active TSS	Left Ventricle	heart
9	chr2:96011400-96013200	Active TSS	Right Atrium	heart
10	chr2:96011800-96013200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
11	chr2:96011800-96013200	Active TSS	Skeletal Muscle Female	skeletal muscle
12	chr2:96012000-96013200	Enhancers	Liver	Liver
13	chr2:96012600-96013200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
14	chr2:96012600-96013200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
15	chr2:96012600-96013200	Flanking Active TSS	Right Ventricle	heart
16	chr2:96012600-96013200	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
17	chr2:96012600-96013400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
18	chr2:96012600-96013400	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
19	chr2:96012600-96014000	Flanking Active TSS	Stomach Smooth Muscle	stomach
20	chr2:96012600-96014200	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr2:96012800-96013200	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
22	chr2:96012800-96013200	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr2:96012800-96013200	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr2:96012800-96013200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
25	chr2:96012800-96013200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr2:96012800-96013200	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
27	chr2:96012800-96013200	Enhancers	Brain Substantia Nigra	brain
28	chr2:96012800-96013200	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
29	chr2:96012800-96013200	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
30	chr2:96012800-96013200	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
31	chr2:96012800-96013200	Flanking Active TSS	Ovary	ovary
32	chr2:96012800-96013200	Bivalent Enhancer	Spleen	Spleen
33	chr2:96012800-96013200	Flanking Active TSS	NHDF-Ad	bronchial
34	chr2:96012800-96013400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr2:96012800-96013400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr2:96012800-96013400	Flanking Active TSS	Rectal Smooth Muscle	rectum
37	chr2:96012800-96013400	Flanking Active TSS	HMEC	breast
38	chr2:96012800-96013600	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr2:96012800-96013600	Flanking Bivalent TSS/Enh	Placenta	Placenta
40	chr2:96012800-96013800	Bivalent/Poised TSS	Fetal Thymus	thymus
41	chr2:96012800-96014000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr2:96012800-96014200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr2:96013000-96013200	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr2:96013000-96013200	Flanking Bivalent TSS/Enh	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr2:96013000-96013200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr2:96013000-96013200	Active TSS	Brain Anterior Caudate	brain
47	chr2:96013000-96013200	Enhancers	Brain Cingulate Gyrus	brain
48	chr2:96013000-96013200	Bivalent Enhancer	Brain Germinal Matrix	brain
49	chr2:96013000-96013200	Active TSS	Brain Hippocampus Middle	brain
50	chr2:96013000-96013200	Enhancers	Esophagus	oesophagus

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