Variant report

Variant	rs373447186
Chromosome Location	chr2:97426849-97426850
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:23)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:23 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:97300473..97305040-chr2:97425563..97430425,4	MCF-7	breast:
2	chr2:96990031..96992678-chr2:97425792..97428161,2	K562	blood:
3	chr2:97399050..97401934-chr2:97425434..97428071,2	MCF-7	breast:
4	chr2:97268720..97275117-chr2:97424272..97429412,8	MCF-7	breast:
5	chr2:97404813..97407675-chr2:97425727..97428415,3	K562	blood:
6	chr14:20923224..20923843-chr2:97426397..97427093,2	Hela-S3	cervix:
7	chr2:97426745..97429493-chr2:97493340..97495541,2	K562	blood:
8	chr2:97425678..97429518-chr2:97479689..97484495,7	MCF-7	breast:
9	chr2:97425294..97427081-chr2:97533526..97535772,2	K562	blood:
10	chr2:97299733..97305587-chr2:97425305..97429139,7	K562	blood:
11	chr2:97426655..97429624-chr2:97455358..97458056,3	MCF-7	breast:
12	chr2:97426251..97427245-chr3:20227662..20228331,2	Hela-S3	cervix:
13	chr2:97426686..97428593-chr2:97451659..97454147,2	MCF-7	breast:
14	chr2:97299733..97305587-chr2:97422203..97428186,8	K562	blood:
15	chr2:97426212..97427746-chr2:97532479..97534253,2	MCF-7	breast:
16	chr2:97426031..97428759-chr2:97617125..97619977,2	MCF-7	breast:
17	chr2:97403401..97407119-chr2:97425023..97428100,7	MCF-7	breast:
18	chr2:97402906..97407899-chr2:97425229..97430147,10	MCF-7	breast:
19	chr11:808341..811136-chr2:97426419..97428883,2	K562	blood:
20	chr19:59057645..59060088-chr2:97425289..97427469,2	MCF-7	breast:
21	chr2:97426560..97429669-chr2:97487357..97491316,3	MCF-7	breast:
22	chr2:97405153..97407675-chr2:97425109..97427390,3	K562	blood:
23	chr2:97301517..97305285-chr2:97426115..97429843,6	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000130726	Chromatin interaction
ENSG00000168763	Chromatin interaction
ENSG00000100823	Chromatin interaction
ENSG00000177595	Chromatin interaction
ENSG00000129810	Chromatin interaction
ENSG00000168758	Chromatin interaction
ENSG00000177600	Chromatin interaction
ENSG00000114982	Chromatin interaction
ENSG00000092094	Chromatin interaction
ENSG00000168754	Chromatin interaction
ENSG00000198885	Chromatin interaction
ENSG00000114988	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933671	chr2:96739308-97652262	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv1000780	chr2:96740430-97671395	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
3	nsv535826	chr2:96740430-97671395	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
4	nsv874677	chr2:96756547-97717345	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
5	nsv1001204	chr2:96766559-97728507	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
6	nsv535827	chr2:96766559-97728507	Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
7	esv3460902	chr2:97138421-97459342	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
8	esv3460903	chr2:97138421-97459342	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
9	nsv874680	chr2:97309574-97678319	Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
10	nsv834307	chr2:97321447-97479266	Active TSS Strong transcription Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
11	nsv526313	chr2:97333492-97660619	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
12	nsv874681	chr2:97410949-97577343	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
13	nsv874682	chr2:97423626-97567389	Transcr. at gene 5' and 3' Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
14	esv3438902	chr2:97425450-97427998	Enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
15	esv3445643	chr2:97425775-97427773	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:97426000-97427000	Active TSS	Brain Anterior Caudate	brain
2	chr2:97426000-97427000	Active TSS	Brain Germinal Matrix	brain
3	chr2:97426000-97427000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
4	chr2:97426000-97427200	Active TSS	H9 Cell Line	embryonic stem cell
5	chr2:97426000-97427200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr2:97426000-97427200	Active TSS	Brain Angular Gyrus	brain
7	chr2:97426000-97427200	Active TSS	Brain Hippocampus Middle	brain
8	chr2:97426000-97427200	Active TSS	Brain Substantia Nigra	brain
9	chr2:97426000-97427200	Active TSS	Fetal Brain Female	brain
10	chr2:97426000-97427200	Active TSS	Ovary	ovary
11	chr2:97426000-97427200	Active TSS	Psoas Muscle	Psoas
12	chr2:97426000-97427400	Active TSS	Fetal Kidney	kidney
13	chr2:97426000-97427600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr2:97426200-97427000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr2:97426200-97427000	Active TSS	iPS-15b Cell Line	embryonic stem cell
16	chr2:97426200-97427000	Active TSS	iPS-20b Cell Line	embryonic stem cell
17	chr2:97426200-97427000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
18	chr2:97426200-97427000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr2:97426200-97427000	Active TSS	Brain Cingulate Gyrus	brain
20	chr2:97426200-97427000	Active TSS	Duodenum Smooth Muscle	Duodenum
21	chr2:97426200-97427000	Active TSS	Fetal Lung	lung
22	chr2:97426200-97427000	Active TSS	Lung	lung
23	chr2:97426200-97427000	Active TSS	Spleen	Spleen
24	chr2:97426200-97427000	Active TSS	A549	lung
25	chr2:97426200-97427000	Active TSS	NHLF	lung
26	chr2:97426200-97427200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr2:97426200-97427200	Active TSS	Gastric	stomach
28	chr2:97426200-97427200	Active TSS	Left Ventricle	heart
29	chr2:97426200-97427200	Active TSS	Rectal Smooth Muscle	rectum
30	chr2:97426200-97427400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr2:97426200-97427400	Active TSS	Aorta	Aorta
32	chr2:97426200-97427400	Active TSS	Colon Smooth Muscle	Colon
33	chr2:97426200-97427400	Active TSS	Small Intestine	intestine
34	chr2:97426200-97428000	Active TSS	HUES64 Cell Line	embryonic stem cell
35	chr2:97426200-97430400	Active TSS	Pancreatic Islets	Pancreatic Islet
36	chr2:97426400-97427000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr2:97426400-97427000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr2:97426400-97427000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr2:97426400-97427000	Active TSS	Breast Myoepithelial Primary Cells	Breast
40	chr2:97426400-97427000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr2:97426400-97427000	Active TSS	Primary B cells from peripheral blood	blood
42	chr2:97426400-97427000	Active TSS	Primary T helper naive cells from peripheral blood	blood
43	chr2:97426400-97427000	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
44	chr2:97426400-97427000	Active TSS	Primary T helper cells PMA-I stimulated	--
45	chr2:97426400-97427000	Active TSS	Primary T regulatory cells fromperipheralblood	blood
46	chr2:97426400-97427000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr2:97426400-97427000	Active TSS	Primary T killer naive cells fromperipheralblood	blood
48	chr2:97426400-97427000	Active TSS	Primary T killer memory cells from peripheral blood	blood
49	chr2:97426400-97427000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr2:97426400-97427000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin

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