Variant report

Variant	rs62298965
Chromosome Location	chr4:48124838-48124839
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	chr4:48123791..48126043-chr4:48128232..48130518,2	MCF-7	breast:
2	chr4:48123606..48125834-chr4:48126808..48128865,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10938521	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12233700	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12647931	0.81[EUR][1000 genomes]
rs62298964	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62298967	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3447039	chr4:47822266-48285222	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:48106000-48129400	Weak transcription	Primary hematopoietic stem cells	blood
2	chr4:48118400-48129600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
3	chr4:48118600-48128200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
4	chr4:48118800-48127400	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr4:48118800-48128800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr4:48118800-48129000	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr4:48120600-48126200	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr4:48121600-48129400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
9	chr4:48121800-48128800	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr4:48122600-48129400	Enhancers	Primary T killer memory cells from peripheral blood	blood
11	chr4:48122800-48125600	Enhancers	Primary T helper naive cells from peripheral blood	blood
12	chr4:48122800-48129400	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr4:48123000-48137600	Weak transcription	Gastric	stomach
14	chr4:48123400-48125400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr4:48124000-48127200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr4:48124000-48129600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr4:48124200-48129800	Enhancers	Primary T cells fromperipheralblood	blood
18	chr4:48124400-48125600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr4:48124400-48125800	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
20	chr4:48124400-48127000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr4:48124400-48128800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr4:48124600-48125000	Enhancers	Fetal Heart	heart
23	chr4:48124800-48125000	Enhancers	K562	blood
24	chr4:48124800-48125200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr4:48124800-48125600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr4:48124800-48125800	Enhancers	Primary T helper cells PMA-I stimulated	--
27	chr4:48124800-48129400	Genic enhancers	Primary T cells from cord blood	blood

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