Variant report

Variant	rs2251264
Chromosome Location	chr2:96657196-96657197
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	chr2:96656872..96660081-chr2:96874473..96876452,3	MCF-7	breast:
2	chr2:96656483..96658831-chr2:96781728..96784486,2	K562	blood:

Variant related genes	Relation type
ENSG00000084090	Chromatin interaction
ENSG00000222040	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3416818	chr2:96072529-96680708	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
2	nsv874660	chr2:96091132-96669134	Strong transcription Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
3	nsv516044	chr2:96150959-96683378	Weak transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
4	nsv1003371	chr2:96326106-96684876	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv874666	chr2:96370571-96691125	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv961832	chr2:96453677-96671971	Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv834304	chr2:96493545-96667472	ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv1004486	chr2:96544604-96684876	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
9	nsv874669	chr2:96547820-96691125	Strong transcription Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
10	nsv818073	chr2:96554851-96683378	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
11	esv1840487	chr2:96582807-96836512	Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
12	nsv870250	chr2:96610946-96739308	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
13	esv1838669	chr2:96613136-96674509	Weak transcription Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
14	esv1839005	chr2:96613136-96674509	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
15	esv1836246	chr2:96622689-96674509	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
16	esv1837811	chr2:96622689-96730375	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
17	nsv874670	chr2:96637870-96693357	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
18	nsv874671	chr2:96637870-96727850	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
19	nsv874672	chr2:96637870-96809331	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
20	nsv874673	chr2:96647856-96825363	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
21	nsv874674	chr2:96651163-96741944	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
22	esv3425400	chr2:96655850-96658398	Weak transcription Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
23	esv3382403	chr2:96656125-96658223	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
24	esv3389270	chr2:96656575-96657673	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:96586000-96657200	Weak transcription	Ovary	ovary
2	chr2:96600600-96657200	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr2:96606400-96657200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr2:96607400-96657200	Weak transcription	Brain Hippocampus Middle	brain
5	chr2:96611400-96657200	Weak transcription	Primary B cells from peripheral blood	blood
6	chr2:96616800-96657200	Weak transcription	Fetal Muscle Trunk	muscle
7	chr2:96621800-96657200	Weak transcription	Rectal Smooth Muscle	rectum
8	chr2:96624000-96658200	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr2:96628000-96657200	Weak transcription	Stomach Smooth Muscle	stomach
10	chr2:96628200-96657200	Weak transcription	Left Ventricle	heart
11	chr2:96641600-96657200	Weak transcription	Fetal Heart	heart
12	chr2:96644800-96657200	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr2:96645800-96657200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr2:96645800-96657200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr2:96646000-96657200	Weak transcription	Adipose Nuclei	Adipose
16	chr2:96646400-96657200	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr2:96646600-96657200	Weak transcription	Primary T cells from cord blood	blood
18	chr2:96646600-96657200	Weak transcription	Primary T cells fromperipheralblood	blood
19	chr2:96646600-96657200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr2:96646600-96657200	Weak transcription	Liver	Liver
21	chr2:96646800-96657200	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr2:96653600-96657200	Weak transcription	Fetal Brain Male	brain
23	chr2:96655800-96658400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr2:96655800-96658600	Active TSS	Fetal Brain Female	brain
25	chr2:96655800-96658600	Active TSS	K562	blood
26	chr2:96656000-96658400	Active TSS	HUVEC	blood vessel
27	chr2:96656200-96657200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr2:96656400-96657200	Enhancers	Primary neutrophils fromperipheralblood	blood
29	chr2:96656400-96658400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr2:96656400-96658400	Active TSS	Primary hematopoietic stem cells short term culture	blood
31	chr2:96656400-96658400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr2:96656400-96658400	Active TSS	Muscle Satellite Cultured Cells	--
33	chr2:96656400-96658400	Active TSS	GM12878-XiMat	blood
34	chr2:96656400-96658400	Active TSS	HMEC	breast
35	chr2:96656400-96658600	Active TSS	NH-A	brain
36	chr2:96656400-96658800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr2:96656400-96658800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr2:96656400-96658800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr2:96656400-96658800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr2:96656400-96658800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr2:96656400-96658800	Active TSS	Brain Germinal Matrix	brain
42	chr2:96656400-96658800	Active TSS	Rectal Mucosa Donor 29	rectum
43	chr2:96656600-96657200	Enhancers	Primary B cells from cord blood	blood
44	chr2:96656600-96657200	Active TSS	Primary T helper cells PMA-I stimulated	--
45	chr2:96656600-96657200	Active TSS	HepG2	liver
46	chr2:96656600-96657600	Active TSS	Fetal Kidney	kidney
47	chr2:96656600-96658200	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr2:96656600-96658400	Active TSS	Breast Myoepithelial Primary Cells	Breast
49	chr2:96656600-96658400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr2:96656600-96658400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin

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