Variant report

Variant	rs6706734
Chromosome Location	chr2:97429951-97429952
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:97300473..97305040-chr2:97425563..97430425,4	MCF-7	breast:
2	chr2:97428068..97433025-chr2:97480948..97483596,5	MCF-7	breast:
3	chr2:97416546..97418397-chr2:97428525..97431292,3	MCF-7	breast:
4	chr2:97404913..97406799-chr2:97429904..97432129,2	MCF-7	breast:
5	chr2:97426951..97430743-chr2:97481056..97485164,3	K562	blood:
6	chr2:97402906..97407899-chr2:97425229..97430147,10	MCF-7	breast:
7	chr2:97427163..97431078-chr2:97448758..97451089,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000114982	Chromatin interaction
ENSG00000114988	Chromatin interaction
ENSG00000168763	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs2678381	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs35071802	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 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

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:97426200-97430400	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr2:97426800-97430000	Flanking Active TSS	Primary T cells from cord blood	blood
3	chr2:97426800-97430000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
4	chr2:97426800-97430400	Flanking Active TSS	Primary B cells from cord blood	blood
5	chr2:97426800-97430400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
6	chr2:97426800-97430400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
7	chr2:97426800-97430400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr2:97426800-97430400	Flanking Active TSS	Adipose Nuclei	Adipose
9	chr2:97426800-97430400	Flanking Active TSS	Esophagus	oesophagus
10	chr2:97426800-97430400	Flanking Active TSS	Dnd41	blood
11	chr2:97426800-97430600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
12	chr2:97426800-97430600	Flanking Active TSS	Duodenum Mucosa	Duodenum
13	chr2:97426800-97430600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
14	chr2:97426800-97430600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
15	chr2:97426800-97430800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr2:97426800-97430800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr2:97427000-97430000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr2:97427000-97430000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
19	chr2:97427000-97430000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
20	chr2:97427000-97430000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
21	chr2:97427000-97430000	Flanking Active TSS	Pancreas	Pancrea
22	chr2:97427000-97430000	Flanking Active TSS	Stomach Smooth Muscle	stomach
23	chr2:97427000-97430200	Flanking Active TSS	Fetal Stomach	stomach
24	chr2:97427000-97430200	Flanking Active TSS	A549	lung
25	chr2:97427000-97430200	Flanking Active TSS	NHEK	skin
26	chr2:97427000-97430400	Flanking Active TSS	Primary B cells from peripheral blood	blood
27	chr2:97427000-97430400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
28	chr2:97427000-97430400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr2:97427000-97430400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr2:97427000-97430400	Flanking Active TSS	Brain Cingulate Gyrus	brain
31	chr2:97427000-97430400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
32	chr2:97427000-97430400	Flanking Active TSS	Hela-S3	cervix
33	chr2:97427000-97430600	Flanking Active TSS	K562	blood
34	chr2:97427000-97430600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
35	chr2:97427200-97430400	Flanking Active TSS	Brain Hippocampus Middle	brain
36	chr2:97427200-97430400	Flanking Active TSS	Brain Substantia Nigra	brain
37	chr2:97427200-97430400	Flanking Active TSS	Thymus	Thymus
38	chr2:97427200-97430600	Flanking Active TSS	Fetal Brain Female	brain
39	chr2:97427400-97430400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr2:97427400-97430400	Flanking Active TSS	Colon Smooth Muscle	Colon
41	chr2:97427600-97430400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr2:97427800-97430400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
43	chr2:97428000-97430200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
44	chr2:97428000-97430200	Flanking Active TSS	HMEC	breast
45	chr2:97428000-97430600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
46	chr2:97428000-97430600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr2:97428000-97430600	Active TSS	Sigmoid Colon	Sigmoid Colon
48	chr2:97428000-97431200	Active TSS	GM12878-XiMat	blood
49	chr2:97428200-97430000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr2:97428200-97430000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain

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