Variant report

Variant	rs72952124
Chromosome Location	chr2:113511830-113511831
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:113510501..113512344-chr2:113514021..113515645,2	K562	blood:
2	chr2:113499878..113502377-chr2:113510716..113513053,2	K562	blood:
3	chr2:113509910..113512793-chr2:113641037..113644558,4	K562	blood:

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs3783570	0.92[AFR][1000 genomes]
rs3783583	0.92[AFR][1000 genomes]
rs61190947	0.93[AFR][1000 genomes]
rs72952121	1.00[AFR][1000 genomes]
rs73955265	0.93[AFR][1000 genomes]
rs884659	0.93[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:88 , 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	chr2:113492200-113512000	Weak transcription	Fetal Heart	heart
3	chr2:113494200-113519600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:113494400-113521000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr2:113494800-113520000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr2:113495800-113521400	Weak transcription	Small Intestine	intestine
7	chr2:113496000-113521200	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr2:113496000-113521200	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr2:113496800-113520800	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr2:113498800-113513800	Weak transcription	Fetal Lung	lung
11	chr2:113499200-113512000	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr2:113500200-113521200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr2:113505600-113513400	Weak transcription	Hela-S3	cervix
14	chr2:113506400-113520200	Strong transcription	HUES64 Cell Line	embryonic stem cell
15	chr2:113507200-113520200	Strong transcription	HUES48 Cell Line	embryonic stem cell
16	chr2:113507400-113513000	Enhancers	Liver	Liver
17	chr2:113507400-113513800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr2:113507400-113519200	Strong transcription	K562	blood
19	chr2:113507400-113520200	Strong transcription	HUES6 Cell Line	embryonic stem cell
20	chr2:113507600-113518200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
21	chr2:113507800-113512200	Weak transcription	Primary B cells from peripheral blood	blood
22	chr2:113507800-113513600	Weak transcription	Fetal Brain Female	brain
23	chr2:113507800-113520000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
24	chr2:113508000-113512400	Weak transcription	Primary B cells from cord blood	blood
25	chr2:113508000-113514800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr2:113508000-113520000	Weak transcription	Brain Germinal Matrix	brain
27	chr2:113508000-113521200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr2:113508200-113512400	Weak transcription	Primary T cells fromperipheralblood	blood
29	chr2:113508200-113515400	Enhancers	Fetal Intestine Small	intestine
30	chr2:113508200-113517800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr2:113508200-113519600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr2:113508200-113519800	Strong transcription	Fetal Thymus	thymus
33	chr2:113508200-113521000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr2:113508200-113521200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr2:113508400-113515600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr2:113508400-113520600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr2:113508600-113514800	Strong transcription	GM12878-XiMat	blood
38	chr2:113508800-113512200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr2:113508800-113516400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr2:113508800-113519200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr2:113509000-113513800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
42	chr2:113509000-113516000	Weak transcription	Rectal Smooth Muscle	rectum
43	chr2:113509400-113514800	Strong transcription	H1 Cell Line	embryonic stem cell
44	chr2:113509600-113512800	Strong transcription	HSMM	muscle
45	chr2:113509600-113518600	Weak transcription	Stomach Mucosa	stomach
46	chr2:113509800-113513000	Weak transcription	Duodenum Mucosa	Duodenum
47	chr2:113509800-113513400	Weak transcription	Fetal Kidney	kidney
48	chr2:113509800-113521200	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr2:113510200-113515200	Strong transcription	Fetal Muscle Trunk	muscle
50	chr2:113510200-113518400	Strong transcription	NHEK	skin

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