Variant report

Variant	rs908296
Chromosome Location	chr2:9954768-9954769
allele	C/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:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:9953957..9955549-chr2:9981308..9984882,3	MCF-7	breast:
2	chr2:9953510..9955032-chr2:9983493..9985198,2	MCF-7	breast:
3	chr2:9954341..9956671-chr2:9971127..9973681,2	K562	blood:
4	chr2:9951629..9954793-chr2:10090886..10093950,3	MCF-7	breast:
5	chr2:9694708..9697029-chr2:9954430..9956483,2	MCF-7	breast:
6	chr2:9954114..9958283-chr2:10172857..10175994,4	K562	blood:
7	chr2:9951073..9955556-chr2:10089913..10091836,5	MCF-7	breast:
8	chr2:9954551..9956379-chr2:9958340..9960055,2	K562	blood:
9	chr2:9949012..9952005-chr2:9952060..9955056,3	K562	blood:
10	chr2:9952816..9955217-chr2:10179305..10181124,2	K562	blood:
11	chr2:9953533..9955150-chr2:10188521..10190837,2	K562	blood:
12	chr2:9953518..9955551-chr2:9982187..9983983,2	K562	blood:
13	chr2:9954254..9954818-chr8:59963704..59964295,2	MCF-7	breast:
14	chr2:9952585..9955462-chr2:9959911..9962016,2	MCF-7	breast:
15	chr2:9953495..9955824-chr2:9964200..9966123,2	K562	blood:
16	chr2:9953775..9955121-chr2:10188515..10189751,8	K562	blood:
17	chr2:9953452..9957551-chr2:10260663..10263596,3	K562	blood:
18	chr2:9954494..9957108-chr2:10173352..10175994,2	K562	blood:
19	chr2:9952588..9955831-chr2:9967859..9972229,5	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000260077	Chromatin interaction
ENSG00000151694	Chromatin interaction
ENSG00000115750	Chromatin interaction
ENSG00000171848	Chromatin interaction
ENSG00000134317	Chromatin interaction
ENSG00000272524	Chromatin interaction
ENSG00000271855	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs56228327	0.91[ASN][1000 genomes]
rs7559852	1.00[CHB][hapmap];0.86[CHD][hapmap];0.91[JPT][hapmap]
rs7568887	0.94[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs883853	0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv469405	chr2:9814374-9964947	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
2	nsv580930	chr2:9814374-9964947	Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	nsv1003026	chr2:9854939-10012516	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
4	nsv470443	chr2:9857018-9975557	Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
5	nsv873619	chr2:9870631-9956981	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	nsv1013969	chr2:9888703-10023951	Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
7	nsv524327	chr2:9913515-9954768	Bivalent Enhancer Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
8	nsv948591	chr2:9922257-10141191	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
9	nsv517701	chr2:9933956-9954768	Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
10	nsv580958	chr2:9942159-9955047	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers	Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
11	nsv528645	chr2:9946213-9975557	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
12	nsv873622	chr2:9948404-9971366	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
13	nsv873623	chr2:9949464-9964947	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers	Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
14	nsv873624	chr2:9949464-9971366	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
15	nsv873625	chr2:9949464-9971366	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers	Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
16	nsv469416	chr2:9949464-9975557	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
17	nsv873626	chr2:9949464-9975557	Bivalent/Poised TSS Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
18	nsv873627	chr2:9949464-9982608	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
19	nsv873628	chr2:9949464-9985670	Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	25 gene(s)	inside rSNPs	diseases
20	nsv873629	chr2:9949464-10016627	Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	25 gene(s)	inside rSNPs	diseases
21	nsv469427	chr2:9951970-9975557	Enhancers Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
22	nsv580959	chr2:9951970-9975557	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
23	nsv873630	chr2:9953949-10030024	Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:9950800-9954800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr2:9951200-9954800	Enhancers	Esophagus	oesophagus
3	chr2:9951200-9955000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr2:9952200-9955600	Enhancers	Placenta	Placenta
5	chr2:9952800-9956000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr2:9953400-9954800	Enhancers	Right Ventricle	heart
7	chr2:9953400-9954800	Enhancers	Spleen	Spleen
8	chr2:9953400-9955000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
9	chr2:9953600-9954800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
10	chr2:9953600-9955000	Enhancers	Left Ventricle	heart
11	chr2:9953800-9954800	Enhancers	Brain Germinal Matrix	brain
12	chr2:9953800-9955000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr2:9953800-9955000	Enhancers	Lung	lung
14	chr2:9954000-9954800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr2:9954000-9956000	Weak transcription	Primary hematopoietic stem cells	blood
16	chr2:9954200-9954800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr2:9954200-9955200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr2:9954200-9956400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr2:9954200-9964200	Weak transcription	Right Atrium	heart
20	chr2:9954400-9954800	Bivalent Enhancer	Fetal Stomach	stomach
21	chr2:9954400-9955000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr2:9954400-9955000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr2:9954400-9955400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr2:9954400-9955800	Weak transcription	Fetal Brain Female	brain
25	chr2:9954400-9955800	Weak transcription	Fetal Thymus	thymus
26	chr2:9954400-9956000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr2:9954400-9956200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr2:9954400-9956200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr2:9954400-9956200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr2:9954400-9956600	Weak transcription	Primary T helper cells fromperipheralblood	blood
31	chr2:9954400-9958200	Weak transcription	NHEK	skin
32	chr2:9954400-9959800	Weak transcription	Pancreas	Pancrea
33	chr2:9954400-9959800	Weak transcription	HMEC	breast
34	chr2:9954400-9959800	Weak transcription	NH-A	brain
35	chr2:9954400-9960000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr2:9954600-9954800	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr2:9954600-9954800	Bivalent/Poised TSS	HepG2	liver
38	chr2:9954600-9955000	Bivalent Enhancer	Stomach Smooth Muscle	stomach
39	chr2:9954600-9955800	Weak transcription	K562	blood
40	chr2:9954600-9958200	Weak transcription	Hela-S3	cervix
41	chr2:9954600-9958400	Weak transcription	A549	lung
42	chr2:9954600-9959800	Weak transcription	Osteobl	bone

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