Variant report

Variant	rs2470621
Chromosome Location	chr15:40743945-40743946
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:40743916..40746207-chr15:40767844..40769362,2	K562	blood:
2	chr15:40687439..40689879-chr15:40742501..40744433,2	K562	blood:
3	chr15:40743208..40745711-chr15:40766264..40768804,2	MCF-7	breast:
4	chr15:40741001..40744042-chr15:40747728..40752510,5	K562	blood:

Variant related genes	Relation type
ENSG00000140320	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs2470620	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2959540	1.00[AMR][1000 genomes]
rs6492950	1.00[AMR][1000 genomes]
rs659443	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs670107	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7178426	1.00[AMR][1000 genomes]
rs73309	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs930768	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	esv34145	chr15:40549617-40889824	Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40734800-40746400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr15:40734800-40747000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr15:40734800-40751000	Weak transcription	Aorta	Aorta
4	chr15:40735000-40744000	Weak transcription	Primary B cells from cord blood	blood
5	chr15:40735000-40746600	Weak transcription	HSMM	muscle
6	chr15:40735200-40747800	Weak transcription	Brain Cingulate Gyrus	brain
7	chr15:40735800-40744400	Weak transcription	Hela-S3	cervix
8	chr15:40736800-40748600	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr15:40737000-40744400	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr15:40738000-40750400	Weak transcription	Brain Germinal Matrix	brain
11	chr15:40738200-40746600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr15:40738200-40746800	Weak transcription	Adipose Nuclei	Adipose
13	chr15:40738200-40747000	Weak transcription	Fetal Muscle Leg	muscle
14	chr15:40738200-40751000	Weak transcription	Rectal Smooth Muscle	rectum
15	chr15:40738400-40744000	Weak transcription	Stomach Smooth Muscle	stomach
16	chr15:40738400-40744400	Weak transcription	Placenta	Placenta
17	chr15:40738400-40744400	Weak transcription	Small Intestine	intestine
18	chr15:40738400-40746800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr15:40738400-40747000	Weak transcription	Colon Smooth Muscle	Colon
20	chr15:40738400-40747200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr15:40738600-40744400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr15:40738600-40746000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr15:40738600-40746200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr15:40738600-40746400	Weak transcription	NHEK	skin
25	chr15:40738600-40746800	Weak transcription	NHLF	lung
26	chr15:40738800-40746800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr15:40740400-40745000	Enhancers	Primary T helper cells PMA-I stimulated	--
28	chr15:40740600-40745600	Enhancers	Primary T cells fromperipheralblood	blood
29	chr15:40740600-40749600	Enhancers	Rectal Mucosa Donor 31	rectum
30	chr15:40741000-40745200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
31	chr15:40741200-40747800	Enhancers	K562	blood
32	chr15:40741400-40745200	Enhancers	Primary T killer memory cells from peripheral blood	blood
33	chr15:40741400-40746400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
34	chr15:40741600-40746600	Weak transcription	A549	lung
35	chr15:40741800-40745600	Weak transcription	HMEC	breast
36	chr15:40741800-40746000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr15:40741800-40746200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr15:40741800-40746200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr15:40741800-40746600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr15:40741800-40746600	Weak transcription	NH-A	brain
41	chr15:40741800-40746600	Weak transcription	NHDF-Ad	bronchial
42	chr15:40741800-40746600	Weak transcription	Osteobl	bone
43	chr15:40742000-40744200	Enhancers	Primary hematopoietic stem cells short term culture	blood
44	chr15:40742000-40744400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
45	chr15:40742000-40745000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr15:40742000-40745400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr15:40742000-40745800	Enhancers	HUES64 Cell Line	embryonic stem cell
48	chr15:40742200-40745400	Enhancers	Primary T helper naive cells from peripheral blood	blood
49	chr15:40742200-40745600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr15:40742200-40745600	Enhancers	Left Ventricle	heart

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