Variant report

Variant	rs2440943
Chromosome Location	chr15:57603221-57603222
allele	G/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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:57602461..57607778-chr15:57612282..57619576,11	K562	blood:
2	chr15:57595866..57598853-chr15:57602406..57604089,3	K562	blood:
3	chr15:57601950..57604007-chr15:57607354..57609319,2	K562	blood:
4	chr15:57600919..57606103-chr15:57620754..57624822,5	K562	blood:
5	chr15:57599033..57602011-chr15:57602301..57604910,2	MCF-7	breast:
6	chr15:57598904..57601336-chr15:57602570..57606633,5	K562	blood:
7	chr15:57595866..57598518-chr15:57602406..57603938,2	K562	blood:
8	chr15:57603147..57604831-chr15:57626994..57629042,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000247982	Chromatin interaction
ENSG00000260870	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11629673	1.00[JPT][hapmap]
rs17819964	1.00[JPT][hapmap]
rs2243451	1.00[JPT][hapmap]
rs2244509	1.00[JPT][hapmap]
rs2244772	1.00[JPT][hapmap]
rs2247485	1.00[JPT][hapmap]
rs2248205	0.82[EUR][1000 genomes]
rs2249219	1.00[JPT][hapmap]
rs2431019	0.96[ASN][1000 genomes]
rs4774929	0.88[CEU][hapmap];0.83[EUR][1000 genomes]
rs4774930	0.88[CEU][hapmap];0.81[EUR][1000 genomes]
rs6493912	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045611	chr15:57350965-58070807	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv833021	chr15:57495413-57751366	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv1054547	chr15:57600488-57977659	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2440943	RSL24D1	cis	parietal	SCAN

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:57599400-57604600	Weak transcription	Right Ventricle	heart
2	chr15:57599400-57605000	Weak transcription	Fetal Brain Female	brain
3	chr15:57599400-57612800	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr15:57599600-57603800	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr15:57599600-57604600	Weak transcription	Fetal Thymus	thymus
6	chr15:57599600-57604600	Weak transcription	Left Ventricle	heart
7	chr15:57599600-57604600	Weak transcription	Pancreas	Pancrea
8	chr15:57599600-57604600	Weak transcription	Psoas Muscle	Psoas
9	chr15:57599600-57604600	Weak transcription	Right Atrium	heart
10	chr15:57599600-57604800	Weak transcription	Fetal Brain Male	brain
11	chr15:57599600-57612400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr15:57599600-57612800	Weak transcription	GM12878-XiMat	blood
13	chr15:57599600-57614200	Weak transcription	Small Intestine	intestine
14	chr15:57599600-57617800	Weak transcription	Spleen	Spleen
15	chr15:57600000-57604400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr15:57600200-57604400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr15:57600200-57605000	Weak transcription	Fetal Kidney	kidney
18	chr15:57600600-57604200	Weak transcription	Fetal Lung	lung
19	chr15:57600800-57603800	Weak transcription	HepG2	liver
20	chr15:57601400-57605200	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr15:57602000-57605600	Enhancers	Fetal Stomach	stomach
22	chr15:57602000-57605800	Enhancers	Fetal Muscle Trunk	muscle
23	chr15:57602000-57606800	Enhancers	Fetal Intestine Large	intestine
24	chr15:57602400-57604000	Enhancers	Rectal Mucosa Donor 29	rectum
25	chr15:57602400-57604800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr15:57602400-57605000	Enhancers	Rectal Mucosa Donor 31	rectum
27	chr15:57602400-57606800	Enhancers	Fetal Intestine Small	intestine
28	chr15:57602400-57607200	Enhancers	Fetal Muscle Leg	muscle
29	chr15:57602600-57604000	Enhancers	Gastric	stomach
30	chr15:57602600-57604600	Weak transcription	Primary B cells from peripheral blood	blood
31	chr15:57602800-57617000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr15:57603000-57603800	Weak transcription	Primary B cells from cord blood	blood
33	chr15:57603000-57604200	Enhancers	Duodenum Mucosa	Duodenum
34	chr15:57603000-57604400	Enhancers	K562	blood
35	chr15:57603000-57605600	Enhancers	Stomach Mucosa	stomach
36	chr15:57603200-57603400	Enhancers	Placenta	Placenta
37	chr15:57603200-57604000	Enhancers	Colonic Mucosa	Colon
38	chr15:57603200-57605000	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr15:57603200-57611400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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