Variant report

Variant	rs28948672
Chromosome Location	chr2:234901334-234901335
allele	A/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	2:234494396-234495604..2:234898811-234918017	K562	blood:
2	2:234498935-234505513..2:234898811-234918017	Hela-S3	cervix:
3	2:234772667-234780240..2:234898811-234918017	Hela-S3	cervix:

Variant related genes	Relation type
ENSG00000224287	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17864759	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17868396	0.82[EUR][1000 genomes]
rs28948673	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6752001	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013712	chr2:234558457-235495825	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv532476	chr2:234595695-235134381	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234893400-234904800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:234896600-234903400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
3	chr2:234896800-234903200	Enhancers	Primary T cells fromperipheralblood	blood
4	chr2:234896800-234903600	Enhancers	Primary T helper naive cells from peripheral blood	blood
5	chr2:234896800-234905000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
6	chr2:234898200-234903400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr2:234898600-234912400	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr2:234899200-234901800	Enhancers	Primary T killer memory cells from peripheral blood	blood
9	chr2:234899200-234903600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
10	chr2:234899200-234904400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr2:234899400-234901400	Weak transcription	HepG2	liver
12	chr2:234899400-234902000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
13	chr2:234899400-234902400	Enhancers	Primary T helper cells PMA-I stimulated	--
14	chr2:234899600-234905200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
15	chr2:234899800-234903600	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr2:234900000-234901600	Enhancers	Primary T cells from cord blood	blood
17	chr2:234900000-234908000	Strong transcription	Liver	Liver
18	chr2:234901000-234901400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr2:234901000-234901400	Bivalent Enhancer	NHDF-Ad	bronchial
20	chr2:234901200-234901400	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr2:234901200-234901400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr2:234901200-234901600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr2:234901200-234902000	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr2:234901200-234903000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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