Variant report

Variant	rs61228049
Chromosome Location	chr2:37618914-37618915
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:37618498..37621396-chr2:37621786..37624740,2	K562	blood:
2	chr2:37569671..37572468-chr2:37617600..37620463,2	MCF-7	breast:
3	chr2:37617148..37619096-chr2:37640287..37642419,2	K562	blood:
4	chr2:37550683..37552401-chr2:37616317..37619162,3	MCF-7	breast:
5	chr2:37616988..37619309-chr2:37620004..37622156,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000115825	Chromatin interaction
ENSG00000115828	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs56659365	0.91[AFR][1000 genomes]
rs61512772	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430724	chr2:37546820-37628704	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:37614800-37623000	Weak transcription	Rectal Smooth Muscle	rectum
2	chr2:37615200-37619200	Enhancers	Primary B cells from peripheral blood	blood
3	chr2:37616000-37619000	Enhancers	Primary B cells from cord blood	blood
4	chr2:37616000-37619800	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr2:37616800-37619000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
6	chr2:37616800-37619000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr2:37617200-37619200	Weak transcription	Gastric	stomach
8	chr2:37617800-37619000	Enhancers	Primary T cells from cord blood	blood
9	chr2:37617800-37621400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr2:37617800-37623000	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr2:37617800-37623200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr2:37617800-37623200	Weak transcription	Fetal Muscle Leg	muscle
13	chr2:37618000-37619000	Enhancers	Muscle Satellite Cultured Cells	--
14	chr2:37618000-37620600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr2:37618000-37621000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr2:37618200-37619800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr2:37618200-37623400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr2:37618200-37623400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr2:37618400-37619000	Enhancers	GM12878-XiMat	blood
20	chr2:37618400-37619800	Enhancers	Monocytes-CD14+_RO01746	blood
21	chr2:37618400-37621000	Weak transcription	Right Atrium	heart
22	chr2:37618400-37623000	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr2:37618400-37623200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr2:37618400-37623200	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr2:37618400-37623200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr2:37618400-37623400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr2:37618600-37619000	Weak transcription	Primary T cells fromperipheralblood	blood
28	chr2:37618600-37619600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr2:37618600-37622800	Weak transcription	A549	lung
30	chr2:37618800-37621000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr2:37618800-37622200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr2:37618800-37623000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr2:37618800-37623000	Weak transcription	HUVEC	blood vessel

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