Variant report

Variant	rs28638170
Chromosome Location	chr2:152193470-152193471
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:152116855..152118703-chr2:152192854..152195590,2	K562	blood:

Variant related genes	Relation type
ENSG00000184898	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10204335	0.83[AMR][1000 genomes]
rs11694240	0.85[EUR][1000 genomes]
rs12622615	0.80[EUR][1000 genomes]
rs13383563	0.80[EUR][1000 genomes]
rs13408323	0.80[AMR][1000 genomes]
rs2113509	0.83[EUR][1000 genomes]
rs2161841	0.83[EUR][1000 genomes]
rs289830	0.80[EUR][1000 genomes]
rs289834	0.80[EUR][1000 genomes]
rs55946491	0.85[EUR][1000 genomes]
rs56206702	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60381734	0.85[EUR][1000 genomes]
rs6433369	0.83[AMR][1000 genomes]
rs6725961	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6734376	0.83[EUR][1000 genomes]
rs6744327	0.83[EUR][1000 genomes]
rs6744450	0.83[EUR][1000 genomes]
rs6747930	0.80[EUR][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	esv3693426	chr2:151725792-152295862	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv1012891	chr2:152019809-152306897	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	nsv1013484	chr2:152028515-152473913	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	nsv535983	chr2:152028515-152473913	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Bivalent/Poised 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 miRNA target site	24 gene(s)	inside rSNPs	diseases
5	nsv1012139	chr2:152114637-152389516	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
6	nsv1011339	chr2:152114637-152392940	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
7	nsv999748	chr2:152135514-152476396	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:152189400-152194800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr2:152190400-152194200	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr2:152191200-152194000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr2:152191200-152194600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr2:152191200-152194600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr2:152191200-152194800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr2:152191200-152195000	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr2:152191200-152195400	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr2:152191200-152195600	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr2:152191400-152193600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr2:152191400-152193600	Weak transcription	Fetal Muscle Leg	muscle
12	chr2:152191400-152195200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr2:152191400-152195600	Weak transcription	NH-A	brain
14	chr2:152191400-152195600	Weak transcription	NHLF	lung
15	chr2:152191400-152195600	Weak transcription	Osteobl	bone
16	chr2:152191600-152193600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr2:152191600-152194600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr2:152192200-152196000	Enhancers	Monocytes-CD14+_RO01746	blood
19	chr2:152192400-152193800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr2:152192400-152194000	Enhancers	Primary hematopoietic stem cells	blood
21	chr2:152193200-152194000	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr2:152193200-152196000	Enhancers	Primary neutrophils fromperipheralblood	blood
23	chr2:152193200-152196000	Enhancers	HUVEC	blood vessel
24	chr2:152193400-152193600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr2:152193400-152193600	Enhancers	Fetal Stomach	stomach
26	chr2:152193400-152193800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr2:152193400-152194000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr2:152193400-152194000	Enhancers	NHDF-Ad	bronchial
29	chr2:152193400-152195200	Enhancers	Primary monocytes fromperipheralblood	blood
30	chr2:152193400-152196000	Enhancers	Muscle Satellite Cultured Cells	--

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