Variant report

Variant	rs2704401
Chromosome Location	chr4:48118202-48118203
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	chr4:48116908..48119075-chr4:48120990..48123464,3	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1003873	0.90[TSI][hapmap]
rs1159075	0.87[CHB][hapmap]
rs11942525	0.87[CHB][hapmap]
rs12640722	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1567217	1.00[ASW][hapmap];0.85[TSI][hapmap];0.85[AFR][1000 genomes]
rs16861044	0.87[CHB][hapmap]
rs16861106	0.87[CHB][hapmap]
rs16861108	0.87[CHB][hapmap]
rs2279965	0.85[TSI][hapmap]
rs2661528	1.00[CHB][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2704400	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2704439	0.89[GIH][hapmap];0.82[TSI][hapmap]
rs3792619	0.81[CHB][hapmap]
rs3792623	0.82[JPT][hapmap]
rs62301688	0.85[AFR][1000 genomes]
rs6829390	0.87[CHB][hapmap]

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:24 , 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	chr4:48111800-48118600	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr4:48113600-48121800	Genic enhancers	Primary T helper cells fromperipheralblood	blood
4	chr4:48114400-48118600	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr4:48114400-48121600	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr4:48114400-48123000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr4:48114600-48118400	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr4:48116400-48118400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr4:48116400-48118600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr4:48116600-48118400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr4:48116600-48118400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr4:48116600-48124000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr4:48116800-48118400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr4:48116800-48118400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr4:48116800-48119400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr4:48117000-48118600	Strong transcription	Primary T cells from cord blood	blood
17	chr4:48117200-48119200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr4:48117400-48118600	Strong transcription	Primary T cells fromperipheralblood	blood
19	chr4:48118000-48118400	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
20	chr4:48118000-48120800	Enhancers	Primary T helper naive cells from peripheral blood	blood
21	chr4:48118200-48118800	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr4:48118200-48119400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
23	chr4:48118200-48119600	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
24	chr4:48118200-48121600	Genic enhancers	Primary T helper cells PMA-I stimulated	--

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