Variant report

Variant	rs17322988
Chromosome Location	chr2:133106268-133106269
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr2:133106140-133106290	AG10803	skin:	n/a	n/a
2	POLR2A	chr2:133104446-133106878	MCF10A-Er-Src	breast:	n/a	n/a
3	CTCF	chr2:133105938-133107266	A549	lung:	n/a	chr2:133106849-133106865

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:133106208..133106974-chr2:133928762..133929385,2	MCF-7	breast:
2	chr19:44858569..44859729-chr2:133105937..133107575,6	MCF-7	breast:
3	chr2:133104869..133106905-chr2:133107987..133110603,2	K562	blood:
4	chr19:44859033..44861169-chr2:133104533..133106354,2	K562	blood:
5	chr2:133104482..133106618-chr2:133108927..133110502,2	MCF-7	breast:
6	chr2:133106241..133106888-chr2:134318328..134318856,2	K562	blood:

No data

Variant related genes	Relation type
FAM201B	TF binding region
ENSG00000272769	TF binding region
ENSG00000062370	Chromatin interaction
ENSG00000230992	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs62167581	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62167607	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv875123	chr2:132564973-133127075	Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	51 gene(s)	inside rSNPs	diseases
2	nsv999341	chr2:132714332-133358577	Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	52 gene(s)	inside rSNPs	diseases
3	nsv916487	chr2:132719325-133355859	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	51 gene(s)	inside rSNPs	diseases
4	nsv1009861	chr2:132719550-133358577	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	51 gene(s)	inside rSNPs	diseases
5	esv2763165	chr2:132719550-133358589	Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	51 gene(s)	inside rSNPs	diseases
6	nsv431701	chr2:132722012-133356398	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	51 gene(s)	inside rSNPs	diseases
7	nsv526029	chr2:132733281-133351415	Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	51 gene(s)	inside rSNPs	diseases
8	nsv999965	chr2:132743229-133358577	Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	49 gene(s)	inside rSNPs	diseases
9	nsv1011421	chr2:132895241-133682185	Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
10	nsv459418	chr2:133034154-133348083	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
11	nsv583149	chr2:133034154-133348083	Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
12	nsv583150	chr2:133034154-133351703	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
13	nsv870193	chr2:133036817-133127581	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
14	nsv875134	chr2:133043404-133127075	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Bivalent Enhancer 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
15	nsv962022	chr2:133046658-133110808	Weak transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
16	nsv875135	chr2:133066736-133158922	Transcr. at gene 5' and 3' Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
17	nsv979127	chr2:133105833-133124638	Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:133105400-133106800	Enhancers	Fetal Heart	heart
2	chr2:133105400-133109800	Weak transcription	Esophagus	oesophagus
3	chr2:133105400-133110000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr2:133105400-133110200	Weak transcription	Aorta	Aorta
5	chr2:133105400-133110200	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr2:133105600-133106800	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr2:133105800-133106400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr2:133105800-133106400	Enhancers	Brain Substantia Nigra	brain
9	chr2:133105800-133106600	Weak transcription	Fetal Brain Male	brain
10	chr2:133105800-133106800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr2:133105800-133110200	Weak transcription	NHLF	lung
12	chr2:133106000-133106400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr2:133106000-133106400	Enhancers	Brain Anterior Caudate	brain
14	chr2:133106000-133106400	Enhancers	Brain Cingulate Gyrus	brain
15	chr2:133106000-133106800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr2:133106000-133106800	Enhancers	Pancreatic Islets	Pancreatic Islet
17	chr2:133106000-133106800	Enhancers	NHEK	skin
18	chr2:133106000-133109400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr2:133106000-133109400	Weak transcription	Colon Smooth Muscle	Colon
20	chr2:133106000-133109400	Weak transcription	Duodenum Mucosa	Duodenum
21	chr2:133106000-133109400	Weak transcription	Pancreas	Pancrea
22	chr2:133106000-133109400	Weak transcription	Rectal Smooth Muscle	rectum
23	chr2:133106000-133109800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr2:133106000-133109800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr2:133106000-133109800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr2:133106200-133109400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr2:133106200-133109400	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr2:133106200-133109400	Weak transcription	HMEC	breast
29	chr2:133106200-133109800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr2:133106200-133109800	Weak transcription	Liver	Liver
31	chr2:133106200-133109800	Weak transcription	Brain Angular Gyrus	brain
32	chr2:133106200-133109800	Weak transcription	Fetal Intestine Small	intestine
33	chr2:133106200-133109800	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr2:133106200-133110200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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