Variant report

Variant	rs17742519
Chromosome Location	chr2:127461760-127461761
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TCF3	chr2:127461274-127461801	GM12878	blood:	n/a	chr2:127461612-127461628
2	BCL3	chr2:127461258-127461828	GM12878	blood:	n/a	n/a
3	NFATC1	chr2:127461248-127461896	GM12878	blood:	n/a	n/a
4	BCL3	chr2:127461267-127461800	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:127448304..127450684-chr2:127460998..127463238,2	K562	blood:

Variant related genes	Relation type
RNU6-675P	TF binding region

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs1000857	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1000858	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10174588	0.91[CEU][hapmap]
rs17742478	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]

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	nsv1002265	chr2:127029745-127733458	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv535919	chr2:127029745-127733458	Strong transcription Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv583011	chr2:127386211-127489031	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:127455800-127462400	Weak transcription	Fetal Intestine Large	intestine
2	chr2:127456200-127462000	Weak transcription	Aorta	Aorta
3	chr2:127456200-127462800	Weak transcription	Gastric	stomach
4	chr2:127456400-127463600	Enhancers	Fetal Muscle Leg	muscle
5	chr2:127456400-127466200	Weak transcription	Stomach Smooth Muscle	stomach
6	chr2:127456600-127462200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr2:127458200-127462400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr2:127458200-127464800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr2:127458400-127461800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr2:127458400-127461800	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr2:127458400-127462400	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr2:127458600-127462600	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr2:127458600-127465400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr2:127458600-127465600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr2:127458800-127462200	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr2:127458800-127462800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr2:127459200-127462200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr2:127459200-127463000	Weak transcription	Colon Smooth Muscle	Colon
19	chr2:127459800-127462000	Enhancers	Left Ventricle	heart
20	chr2:127460400-127462000	Enhancers	Fetal Muscle Trunk	muscle
21	chr2:127460800-127463400	Enhancers	Adipose Nuclei	Adipose
22	chr2:127461000-127461800	Enhancers	Right Ventricle	heart
23	chr2:127461000-127462200	Enhancers	Psoas Muscle	Psoas
24	chr2:127461200-127462000	Enhancers	Skeletal Muscle Male	skeletal muscle
25	chr2:127461200-127462400	Weak transcription	Fetal Stomach	stomach
26	chr2:127461200-127462800	Enhancers	Ovary	ovary
27	chr2:127461200-127469400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr2:127461400-127462000	Enhancers	Right Atrium	heart
29	chr2:127461600-127461800	Enhancers	Primary T killer memory cells from peripheral blood	blood
30	chr2:127461600-127461800	Enhancers	Brain Angular Gyrus	brain
31	chr2:127461600-127461800	Enhancers	Fetal Lung	lung
32	chr2:127461600-127463200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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