Variant report

Variant	rs60242125
Chromosome Location	chr2:97523320-97523321
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:97516728..97547486-chr2:97588377..97628331,265	MCF-7	breast:
2	chr2:97522291..97526078-chr2:97561305..97564829,3	K562	blood:
3	chr2:97481330..97483685-chr2:97521136..97525158,3	K562	blood:
4	chr10:102757326..102759144-chr2:97522745..97524624,2	MCF-7	breast:
5	chr2:97522570..97524502-chr2:97776940..97779479,2	MCF-7	breast:
6	chr2:97480014..97482644-chr2:97518894..97524629,5	MCF-7	breast:
7	chr2:97488123..97491381-chr2:97522097..97525123,6	MCF-7	breast:
8	chr2:97522805..97523790-chr2:97534750..97535737,2	MCF-7	breast:
9	chr2:97521965..97524958-chr8:96280956..96282974,2	MCF-7	breast:
10	chr2:97523293..97524013-chr2:97535238..97535808,3	MCF-7	breast:
11	chr2:97481330..97485256-chr2:97521136..97525640,5	K562	blood:
12	chr2:97521500..97526453-chr2:97614513..97620136,8	K562	blood:
13	chr2:97521500..97526547-chr2:97614513..97619168,8	K562	blood:

No data

Variant related genes	Relation type
ENSG00000253773	Chromatin interaction
ENSG00000107816	Chromatin interaction
ENSG00000252845	Chromatin interaction
ENSG00000135976	Chromatin interaction
ENSG00000168758	Chromatin interaction
ENSG00000156172	Chromatin interaction
ENSG00000168763	Chromatin interaction
ENSG00000168754	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs17119606	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17119736	1.00[AMR][1000 genomes]
rs41530648	1.00[AMR][1000 genomes]
rs55806522	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56984105	1.00[AMR][1000 genomes]
rs57454641	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57505323	1.00[AMR][1000 genomes]
rs57993098	1.00[AMR][1000 genomes]
rs58219990	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59057644	1.00[AMR][1000 genomes]
rs59657357	1.00[AMR][1000 genomes]
rs59881596	1.00[AMR][1000 genomes]
rs61745438	1.00[AMR][1000 genomes]
rs72941255	1.00[AMR][1000 genomes]
rs73960687	1.00[AMR][1000 genomes]
rs7593245	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933671	chr2:96739308-97652262	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv1000780	chr2:96740430-97671395	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
3	nsv535826	chr2:96740430-97671395	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
4	nsv874677	chr2:96756547-97717345	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
5	nsv1001204	chr2:96766559-97728507	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
6	nsv535827	chr2:96766559-97728507	Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
7	nsv874680	chr2:97309574-97678319	Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
8	nsv526313	chr2:97333492-97660619	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
9	nsv874681	chr2:97410949-97577343	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
10	nsv874682	chr2:97423626-97567389	Transcr. at gene 5' and 3' Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:97521800-97524400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr2:97522000-97523400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr2:97522000-97523400	Flanking Active TSS	K562	blood
4	chr2:97522200-97523400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:97522200-97523400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
6	chr2:97522200-97523400	Flanking Active TSS	Fetal Brain Female	brain
7	chr2:97522200-97523600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr2:97522200-97523600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr2:97522400-97523400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
10	chr2:97522400-97523400	Flanking Active TSS	Primary T cells from cord blood	blood
11	chr2:97522400-97523400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
12	chr2:97522400-97523400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
13	chr2:97522400-97523400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
14	chr2:97522400-97523400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
15	chr2:97522400-97523400	Flanking Active TSS	Duodenum Mucosa	Duodenum
16	chr2:97522400-97523400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
17	chr2:97522400-97523400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
18	chr2:97522400-97523400	Flanking Active TSS	Hela-S3	cervix
19	chr2:97522400-97523600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
20	chr2:97522400-97523600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr2:97522400-97523800	Flanking Active TSS	Primary B cells from cord blood	blood
22	chr2:97522400-97523800	Flanking Active TSS	Stomach Smooth Muscle	stomach
23	chr2:97522400-97524800	Active TSS	ES-I3 Cell Line	embryonic stem cell
24	chr2:97522400-97525200	Active TSS	iPS-20b Cell Line	embryonic stem cell
25	chr2:97522600-97523400	Flanking Active TSS	Primary hematopoietic stem cells	blood
26	chr2:97522600-97523400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
27	chr2:97522600-97523400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
28	chr2:97522600-97523400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr2:97522600-97523400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
30	chr2:97522600-97523400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr2:97522600-97523400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr2:97522600-97523400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
33	chr2:97522600-97523400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
34	chr2:97522600-97523400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
35	chr2:97522600-97523400	Flanking Active TSS	HMEC	breast
36	chr2:97522600-97523400	Flanking Active TSS	NHEK	skin
37	chr2:97522600-97523600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
38	chr2:97522600-97523600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr2:97522600-97523600	Flanking Active TSS	Adipose Nuclei	Adipose
40	chr2:97522600-97523600	Flanking Active TSS	Fetal Thymus	thymus
41	chr2:97522600-97524600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr2:97522600-97524800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
43	chr2:97522600-97525200	Active TSS	H9 Cell Line	embryonic stem cell
44	chr2:97522800-97523400	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr2:97522800-97523400	Flanking Active TSS	Primary B cells from peripheral blood	blood
46	chr2:97522800-97523400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
47	chr2:97522800-97523400	Flanking Active TSS	Liver	Liver
48	chr2:97522800-97523400	Active TSS	Fetal Brain Male	brain
49	chr2:97522800-97523400	Flanking Active TSS	Fetal Muscle Leg	muscle
50	chr2:97522800-97523400	Flanking Active TSS	HUVEC	blood vessel

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