Variant report

Variant	rs13414661
Chromosome Location	chr2:209040256-209040257
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:209039733..209040833-chr2:209118699..209120498,12	MCF-7	breast:
2	chr2:209039776..209040279-chr2:209119196..209119817,2	MCF-7	breast:
3	chr2:209033805..209035560-chr2:209037521..209040634,3	K562	blood:
4	chr2:209040053..209040651-chr2:209133538..209134369,3	K562	blood:
5	chr2:209039807..209040681-chr2:209119247..209120525,5	MCF-7	breast:
6	chr2:209040088..209040688-chr2:209118748..209120316,4	K562	blood:

Variant related genes	Relation type
ENSG00000231908	Chromatin interaction
ENSG00000138413	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs10178748	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010531	chr2:208610639-209176782	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv536130	chr2:208610639-209176782	Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv534496	chr2:208814372-209302791	Strong transcription Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking 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 miRNA target site	40 gene(s)	inside rSNPs	diseases
4	nsv875747	chr2:208990345-209042963	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv834517	chr2:209006797-209170269	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
6	nsv584297	chr2:209020181-209316760	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
7	nsv584298	chr2:209021232-209052303	Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv584299	chr2:209021232-209067051	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv875749	chr2:209022909-209062388	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv875750	chr2:209022909-209069303	Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	nsv869592	chr2:209029861-209060862	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	nsv584300	chr2:209033557-209054928	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
13	esv2763083	chr2:209033581-209058397	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
14	nsv584301	chr2:209034715-209054928	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:209028600-209040400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr2:209030600-209040400	Weak transcription	Fetal Brain Female	brain
3	chr2:209032800-209040600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr2:209035200-209040400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr2:209037200-209040800	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr2:209038000-209040600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr2:209038000-209048200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr2:209039000-209040800	Enhancers	K562	blood
9	chr2:209039400-209040600	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr2:209039400-209040600	Flanking Active TSS	HepG2	liver
11	chr2:209039600-209043800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr2:209039800-209040400	Enhancers	Primary hematopoietic stem cells	blood
13	chr2:209039800-209040600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
14	chr2:209039800-209040800	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr2:209040000-209040400	Active TSS	Brain Inferior Temporal Lobe	brain
16	chr2:209040000-209040600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr2:209040000-209040600	Enhancers	Brain Anterior Caudate	brain
18	chr2:209040000-209040800	Enhancers	Brain Germinal Matrix	brain
19	chr2:209040000-209040800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
20	chr2:209040000-209040800	Enhancers	Hela-S3	cervix
21	chr2:209040000-209041000	Enhancers	Liver	Liver
22	chr2:209040000-209064000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr2:209040200-209040400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr2:209040200-209040600	Active TSS	Brain Angular Gyrus	brain
25	chr2:209040200-209040600	Active TSS	Brain Hippocampus Middle	brain
26	chr2:209040200-209040600	Enhancers	A549	lung
27	chr2:209040200-209040800	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr2:209040200-209040800	Enhancers	Adipose Nuclei	Adipose
29	chr2:209040200-209040800	Enhancers	Dnd41	blood
30	chr2:209040200-209041000	Enhancers	Brain Cingulate Gyrus	brain

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