Variant report

Variant	rs62129867
Chromosome Location	chr2:9938259-9938260
allele	A/C
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:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:9937659..9941164-chr2:10094129..10096263,3	MCF-7	breast:
2	chr2:9910603..9912581-chr2:9936937..9939514,2	MCF-7	breast:
3	chr2:9897337..9900295-chr2:9937034..9939837,3	K562	blood:
4	chr2:9916806..9919291-chr2:9935461..9938460,2	MCF-7	breast:
5	chr2:9937119..9939659-chr2:10587098..10588893,2	K562	blood:
6	chr2:9936599..9939944-chr2:10182604..10184557,3	MCF-7	breast:
7	chr2:9936512..9939080-chr2:9983882..9985731,2	MCF-7	breast:
8	chr2:9907890..9909492-chr2:9937494..9939085,2	MCF-7	breast:
9	chr2:9937501..9941480-chr2:10089757..10093591,7	MCF-7	breast:
10	chr2:9919839..9921691-chr2:9937191..9939012,2	MCF-7	breast:
11	chr2:9932066..9933964-chr2:9935822..9938951,3	MCF-7	breast:
12	chr2:9933200..9936556-chr2:9937201..9939703,3	K562	blood:
13	chr2:9933790..9936191-chr2:9936744..9939600,3	MCF-7	breast:
14	chr2:9937709..9940451-chr2:10113926..10116803,3	MCF-7	breast:
15	chr2:9938188..9943513-chr2:9981101..9985006,11	MCF-7	breast:
16	chr2:9937133..9939802-chr2:9958329..9960666,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000257135	Chromatin interaction
ENSG00000134317	Chromatin interaction
ENSG00000172059	Chromatin interaction
ENSG00000115750	Chromatin interaction
ENSG00000115758	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10187701	1.00[ASN][1000 genomes]
rs10203320	1.00[ASN][1000 genomes]
rs10495568	1.00[ASN][1000 genomes]
rs11695174	1.00[ASN][1000 genomes]
rs1534043	1.00[ASN][1000 genomes]
rs16867104	1.00[ASN][1000 genomes]
rs17453871	1.00[ASN][1000 genomes]
rs55921604	1.00[ASN][1000 genomes]
rs62121160	1.00[ASN][1000 genomes]
rs62121164	1.00[ASN][1000 genomes]
rs62121165	1.00[ASN][1000 genomes]
rs62129868	1.00[ASN][1000 genomes]
rs72777055	1.00[ASN][1000 genomes]
rs72777067	1.00[ASN][1000 genomes]
rs72780951	1.00[ASN][1000 genomes]
rs868095	1.00[ASN][1000 genomes]
rs9750782	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:9932600-9938400	Weak transcription	Adipose Nuclei	Adipose
2	chr2:9933000-9939200	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr2:9933000-9939400	Weak transcription	Right Ventricle	heart
4	chr2:9933200-9953800	Weak transcription	Fetal Heart	heart
5	chr2:9933600-9938400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr2:9934000-9938800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr2:9934000-9939000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr2:9934000-9939600	Weak transcription	Right Atrium	heart
9	chr2:9934200-9938400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr2:9934200-9938600	Weak transcription	Primary B cells from cord blood	blood
11	chr2:9934200-9938800	Weak transcription	Lung	lung
12	chr2:9934200-9938800	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr2:9934200-9939000	Weak transcription	Spleen	Spleen
14	chr2:9934200-9941200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr2:9934200-9941600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr2:9934400-9938400	Weak transcription	Primary B cells from peripheral blood	blood
17	chr2:9934400-9938600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr2:9934400-9939000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr2:9934600-9939000	Weak transcription	GM12878-XiMat	blood
20	chr2:9935800-9939600	Weak transcription	Pancreas	Pancrea
21	chr2:9936000-9939400	Weak transcription	Fetal Muscle Leg	muscle
22	chr2:9936000-9939600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr2:9936400-9938600	Enhancers	Monocytes-CD14+_RO01746	blood
24	chr2:9936400-9939200	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr2:9936400-9939400	Enhancers	Placenta	Placenta
26	chr2:9936600-9939600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr2:9936600-9943800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr2:9936800-9938400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr2:9936800-9939600	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr2:9937000-9939600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr2:9937200-9939400	Enhancers	Fetal Intestine Large	intestine
32	chr2:9937200-9940000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr2:9937200-9943800	Enhancers	Esophagus	oesophagus
34	chr2:9937200-9944000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr2:9937200-9944200	Enhancers	Fetal Intestine Small	intestine
36	chr2:9937400-9938600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr2:9937400-9939000	Enhancers	NHEK	skin
38	chr2:9937600-9938600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr2:9937600-9939800	Weak transcription	Fetal Lung	lung
40	chr2:9937600-9941000	Enhancers	HMEC	breast
41	chr2:9937800-9939200	Enhancers	Duodenum Mucosa	Duodenum
42	chr2:9937800-9939200	Enhancers	Rectal Mucosa Donor 31	rectum
43	chr2:9937800-9939400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
44	chr2:9937800-9939400	Enhancers	Colonic Mucosa	Colon
45	chr2:9937800-9939600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr2:9937800-9940600	Enhancers	Sigmoid Colon	Sigmoid Colon
47	chr2:9937800-9943800	Enhancers	Breast Myoepithelial Primary Cells	Breast
48	chr2:9938000-9938400	Enhancers	Fetal Kidney	kidney
49	chr2:9938000-9938400	Enhancers	A549	lung
50	chr2:9938000-9939000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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