Variant report

Variant	rs13427158
Chromosome Location	chr2:38841284-38841285
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:38838600..38841339-chr2:38925326..38927602,2	K562	blood:
2	chr2:38839551..38842960-chr2:38892269..38895636,5	K562	blood:

Variant related genes	Relation type
ENSG00000143891	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10166466	0.95[AFR][1000 genomes]
rs10186867	0.89[AFR][1000 genomes]
rs10192837	0.84[AFR][1000 genomes]
rs10197071	0.84[AFR][1000 genomes]
rs10204707	1.00[AFR][1000 genomes]
rs10204840	0.89[AFR][1000 genomes]
rs13388732	0.89[AFR][1000 genomes]
rs13391054	0.95[AFR][1000 genomes]
rs13391755	0.89[AFR][1000 genomes]
rs13392719	0.89[AFR][1000 genomes]
rs13396985	0.90[AFR][1000 genomes]
rs13398865	0.90[AFR][1000 genomes]
rs13401946	1.00[AFR][1000 genomes]
rs13413591	0.89[AFR][1000 genomes]
rs13423067	0.89[AFR][1000 genomes]
rs13424641	0.89[AFR][1000 genomes]
rs17022966	0.85[AFR][1000 genomes]
rs17022981	1.00[AFR][1000 genomes]
rs17022992	1.00[AFR][1000 genomes]
rs17023021	0.90[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916059	chr2:38332341-39119398	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	143 gene(s)	inside rSNPs	diseases
2	nsv9646	chr2:38358311-39082189	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	141 gene(s)	inside rSNPs	diseases
3	nsv873881	chr2:38745624-38877636	Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
4	nsv581482	chr2:38799820-38858669	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv581483	chr2:38799820-38862223	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv581484	chr2:38799820-38874177	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	nsv581485	chr2:38839323-38893660	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:38835200-38843400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr2:38835400-38842000	Weak transcription	HMEC	breast
3	chr2:38835400-38842200	Weak transcription	NHEK	skin
4	chr2:38835400-38843400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr2:38835400-38862400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr2:38837800-38842400	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr2:38838600-38842200	Enhancers	Stomach Mucosa	stomach
8	chr2:38838600-38845000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr2:38839000-38842000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr2:38839000-38847200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr2:38839200-38841800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr2:38839200-38842600	Enhancers	HepG2	liver
13	chr2:38839400-38842200	Enhancers	Primary hematopoietic stem cells	blood
14	chr2:38839600-38841400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr2:38839800-38843400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr2:38840000-38841800	Weak transcription	Lung	lung
17	chr2:38840200-38841400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr2:38840200-38842200	Weak transcription	GM12878-XiMat	blood
19	chr2:38840400-38841600	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr2:38840400-38842200	Weak transcription	Osteobl	bone
21	chr2:38840600-38841400	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr2:38840600-38841600	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr2:38840600-38841600	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr2:38840600-38841600	Enhancers	Fetal Kidney	kidney
25	chr2:38840600-38841600	Flanking Active TSS	K562	blood
26	chr2:38840600-38842000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr2:38840600-38842000	Weak transcription	NHDF-Ad	bronchial
28	chr2:38840800-38841600	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr2:38840800-38842000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr2:38841000-38841600	Weak transcription	Adipose Nuclei	Adipose
31	chr2:38841000-38842000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr2:38841000-38842000	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr2:38841000-38842200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr2:38841000-38842200	Weak transcription	HSMM	muscle
35	chr2:38841000-38846600	Weak transcription	HSMMtube	muscle
36	chr2:38841200-38843000	Enhancers	Monocytes-CD14+_RO01746	blood
37	chr2:38841200-38846200	Weak transcription	Primary neutrophils fromperipheralblood	blood
38	chr2:38841200-38846600	Weak transcription	NHLF	lung

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