Variant report

Variant	rs57432780
Chromosome Location	chr4:48128552-48128553
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:48126444..48129748-chr4:48269948..48273540,4	MCF-7	breast:
2	chr4:48127393..48130014-chr4:48270047..48272078,2	MCF-7	breast:
3	chr4:48128237..48129739-chr4:48292379..48294258,2	K562	blood:
4	chr4:48123606..48125834-chr4:48126808..48128865,2	K562	blood:
5	chr4:48123791..48126043-chr4:48128232..48130518,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000135605	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs16860977	0.86[AFR][1000 genomes]
rs16860981	0.86[AFR][1000 genomes]
rs16861011	0.97[AFR][1000 genomes]
rs16861029	0.83[AFR][1000 genomes]
rs59378694	0.86[AFR][1000 genomes]
rs73136296	0.97[AFR][1000 genomes]
rs73136297	0.83[AFR][1000 genomes]
rs73136299	0.97[AFR][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:33 , 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	chr4:48118800-48128800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr4:48118800-48129000	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr4:48121600-48129400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
6	chr4:48121800-48128800	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr4:48122600-48129400	Enhancers	Primary T killer memory cells from peripheral blood	blood
8	chr4:48122800-48129400	Enhancers	Primary T helper cells fromperipheralblood	blood
9	chr4:48123000-48137600	Weak transcription	Gastric	stomach
10	chr4:48124000-48129600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr4:48124200-48129800	Enhancers	Primary T cells fromperipheralblood	blood
12	chr4:48124400-48128800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr4:48124800-48129400	Genic enhancers	Primary T cells from cord blood	blood
14	chr4:48125000-48129200	Weak transcription	Fetal Heart	heart
15	chr4:48125200-48129200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
16	chr4:48125600-48129600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
17	chr4:48126200-48129400	Enhancers	Primary T helper naive cells from peripheral blood	blood
18	chr4:48126400-48128800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr4:48126400-48129400	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr4:48126600-48128800	Weak transcription	HSMM	muscle
21	chr4:48126600-48133400	Enhancers	K562	blood
22	chr4:48127400-48129000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr4:48127400-48129600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
24	chr4:48127600-48128800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr4:48127600-48128800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr4:48127600-48129200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr4:48127800-48128600	Weak transcription	Placenta	Placenta
28	chr4:48127800-48128800	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr4:48127800-48128800	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr4:48127800-48128800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr4:48127800-48129000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr4:48127800-48129200	Enhancers	Primary T helper cells PMA-I stimulated	--
33	chr4:48128200-48129000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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