Variant report

Variant	rs72952128
Chromosome Location	chr2:113519774-113519775
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:113511556..113515494-chr2:113516132..113520858,6	K562	blood:
2	chr2:113508884..113510742-chr2:113519395..113521615,3	K562	blood:
3	chr2:113519458..113523816-chr2:113539890..113544534,4	K562	blood:
4	chr2:113497949..113500528-chr2:113517759..113519834,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000169607	Chromatin interaction
ENSG00000115008	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs17040306	0.81[AFR][1000 genomes]
rs17042289	0.90[AFR][1000 genomes]
rs17042293	0.90[AFR][1000 genomes]
rs17042296	0.87[AFR][1000 genomes]
rs17042298	0.90[AFR][1000 genomes]
rs55712130	0.87[AFR][1000 genomes]
rs55900444	0.87[AFR][1000 genomes]
rs56152754	0.90[AFR][1000 genomes]
rs60255523	0.90[AFR][1000 genomes]
rs72952103	0.90[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428724	chr2:113376894-113555421	Genic enhancers Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv1010106	chr2:113394981-113556071	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113491000-113520800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:113494400-113521000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr2:113494800-113520000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr2:113495800-113521400	Weak transcription	Small Intestine	intestine
5	chr2:113496000-113521200	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr2:113496000-113521200	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr2:113496800-113520800	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr2:113500200-113521200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr2:113506400-113520200	Strong transcription	HUES64 Cell Line	embryonic stem cell
10	chr2:113507200-113520200	Strong transcription	HUES48 Cell Line	embryonic stem cell
11	chr2:113507400-113520200	Strong transcription	HUES6 Cell Line	embryonic stem cell
12	chr2:113507800-113520000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
13	chr2:113508000-113520000	Weak transcription	Brain Germinal Matrix	brain
14	chr2:113508000-113521200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr2:113508200-113519800	Strong transcription	Fetal Thymus	thymus
16	chr2:113508200-113521000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr2:113508200-113521200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr2:113508400-113520600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr2:113509800-113521200	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr2:113510200-113521200	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr2:113510600-113520800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr2:113511400-113519800	Strong transcription	A549	lung
23	chr2:113512600-113520800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr2:113512600-113521400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr2:113512800-113520600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr2:113512800-113521200	Weak transcription	Primary B cells from cord blood	blood
27	chr2:113512800-113521200	Weak transcription	Placenta	Placenta
28	chr2:113514000-113521000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr2:113514200-113519800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr2:113514200-113521000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr2:113514400-113520400	Weak transcription	Fetal Brain Female	brain
32	chr2:113514400-113520600	Weak transcription	Fetal Lung	lung
33	chr2:113514400-113521200	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr2:113514600-113521200	Weak transcription	Duodenum Mucosa	Duodenum
35	chr2:113514600-113521200	Weak transcription	Fetal Kidney	kidney
36	chr2:113514800-113519800	Weak transcription	Hela-S3	cervix
37	chr2:113514800-113520600	Weak transcription	NH-A	brain
38	chr2:113514800-113520800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr2:113514800-113521200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr2:113515000-113520600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr2:113515200-113520400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr2:113515400-113520200	Weak transcription	Fetal Intestine Small	intestine
43	chr2:113515400-113520600	Weak transcription	Fetal Stomach	stomach
44	chr2:113515400-113521200	Weak transcription	Fetal Brain Male	brain
45	chr2:113515400-113521200	Weak transcription	Fetal Intestine Large	intestine
46	chr2:113515400-113521600	Weak transcription	Spleen	Spleen
47	chr2:113515600-113521600	Weak transcription	Colon Smooth Muscle	Colon
48	chr2:113516200-113519800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr2:113516200-113521000	Weak transcription	Primary neutrophils fromperipheralblood	blood
50	chr2:113516200-113521200	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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