Variant report

Variant	rs558744030
Chromosome Location	chr2:9950012-9950013
allele	A/G
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:9947583..9953611-chr2:9980461..9984922,8	MCF-7	breast:
2	chr2:9945041..9950358-chr2:10256783..10262735,6	K562	blood:
3	chr2:9949012..9952005-chr2:9952060..9955056,3	K562	blood:
4	chr2:9948913..9951655-chr2:9969307..9971290,2	MCF-7	breast:
5	chr2:9945375..9947276-chr2:9949205..9951851,2	K562	blood:
6	chr2:9948192..9950621-chr2:10182726..10184931,3	MCF-7	breast:
7	chr2:9949625..9951614-chr2:9969038..9971229,2	MCF-7	breast:
8	chr2:9948978..9951882-chr2:10166549..10169090,2	MCF-7	breast:
9	chr2:9949069..9951498-chr2:10025282..10028550,3	MCF-7	breast:
10	chr2:9947664..9950412-chr2:10090108..10093730,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000115750	Chromatin interaction
ENSG00000171848	Chromatin interaction
ENSG00000134317	Chromatin interaction
ENSG00000172059	Chromatin interaction
ENSG00000272524	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:22 , 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	nsv873620	chr2:9906145-9951970	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
8	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
9	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
10	nsv873621	chr2:9924387-9954598	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	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
21	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
22	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

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:9933200-9953800	Weak transcription	Fetal Heart	heart
2	chr2:9940400-9953600	Weak transcription	Right Atrium	heart
3	chr2:9941800-9951800	Weak transcription	Psoas Muscle	Psoas
4	chr2:9945400-9950200	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr2:9946000-9950200	Enhancers	Esophagus	oesophagus
6	chr2:9946000-9953600	Weak transcription	Osteobl	bone
7	chr2:9946600-9953400	Weak transcription	Right Ventricle	heart
8	chr2:9948000-9952000	Weak transcription	Spleen	Spleen
9	chr2:9948400-9950200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr2:9948400-9950200	Enhancers	Stomach Mucosa	stomach
11	chr2:9948400-9953200	Enhancers	NHEK	skin
12	chr2:9948600-9950400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr2:9949000-9950200	Enhancers	Duodenum Mucosa	Duodenum
14	chr2:9949000-9950200	Enhancers	Gastric	stomach
15	chr2:9949000-9950200	Enhancers	Rectal Mucosa Donor 31	rectum
16	chr2:9949200-9950200	Enhancers	Fetal Intestine Small	intestine
17	chr2:9949200-9950200	Enhancers	Fetal Thymus	thymus
18	chr2:9949400-9950200	Enhancers	Colonic Mucosa	Colon
19	chr2:9949400-9950200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
20	chr2:9949400-9950200	Enhancers	Skeletal Muscle Male	skeletal muscle
21	chr2:9949400-9950200	Enhancers	HSMMtube	muscle
22	chr2:9949400-9950600	Enhancers	Fetal Muscle Leg	muscle
23	chr2:9949600-9950200	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr2:9949800-9950200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr2:9949800-9950200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr2:9949800-9951400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr2:9949800-9954200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr2:9950000-9951800	Weak transcription	Pancreas	Pancrea
29	chr2:9950000-9952200	Weak transcription	Placenta	Placenta
30	chr2:9950000-9953400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr2:9950000-9953600	Weak transcription	Fetal Intestine Large	intestine
32	chr2:9950000-9953600	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr2:9950000-9953600	Weak transcription	HMEC	breast
34	chr2:9950000-9953800	Weak transcription	Lung	lung
35	chr2:9950000-9953800	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr2:9950000-9953800	Weak transcription	HSMM	muscle

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