Variant report

Variant	rs2868919
Chromosome Location	chr4:85520643-85520644
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:85516667..85518357-chr4:85520389..85522832,2	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs1020278	1.00[CEU][hapmap];0.86[CHB][hapmap];0.82[GIH][hapmap];0.96[MEX][hapmap];0.85[MKK][hapmap];0.95[TSI][hapmap];0.86[YRI][hapmap]
rs10446695	1.00[CEU][hapmap];0.86[CHB][hapmap]
rs11097023	0.84[CEU][hapmap];0.82[CHD][hapmap];0.94[GIH][hapmap];0.88[JPT][hapmap];0.91[MEX][hapmap];0.87[TSI][hapmap]
rs11725539	0.85[CEU][hapmap];0.82[CHB][hapmap];0.89[JPT][hapmap]
rs11929910	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13102661	0.92[CEU][hapmap];0.86[CHB][hapmap];1.00[GIH][hapmap];0.96[MEX][hapmap];0.87[TSI][hapmap]
rs1372971	0.92[CEU][hapmap];0.86[CHB][hapmap];0.97[GIH][hapmap];0.96[MEX][hapmap];0.87[TSI][hapmap]
rs1443074	0.92[CEU][hapmap];0.86[CHB][hapmap];1.00[GIH][hapmap];0.90[TSI][hapmap]
rs2165786	0.92[CEU][hapmap];0.86[CHB][hapmap];0.82[GIH][hapmap];0.87[MEX][hapmap];0.85[MKK][hapmap];0.92[TSI][hapmap];0.85[YRI][hapmap]
rs28527489	0.87[ASW][hapmap];0.89[LWK][hapmap];0.81[MKK][hapmap];1.00[YRI][hapmap]
rs2868917	0.83[JPT][hapmap];0.87[MEX][hapmap]
rs2868920	0.82[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.82[TSI][hapmap]
rs4449405	0.85[CEU][hapmap];0.92[GIH][hapmap];0.83[JPT][hapmap];0.87[MEX][hapmap];0.82[TSI][hapmap]
rs6829806	0.92[CEU][hapmap];0.86[CHB][hapmap];0.97[GIH][hapmap];0.96[MEX][hapmap];0.87[TSI][hapmap]
rs7659340	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7677285	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap]
rs7678268	0.83[JPT][hapmap]
rs9784491	0.92[CEU][hapmap];0.86[CHB][hapmap];0.97[GIH][hapmap];0.87[MEX][hapmap];0.87[TSI][hapmap]

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	esv3389054	chr4:85520460-85520725	Weak transcription	Chromatin interactive region	n/a	inside rSNPs	n/a
2	esv2830333	chr4:85520643-85545644	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2868919	NCRNA00247	cis	cerebellum	SCAN
rs2868919	NKX6-1	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:85508800-85531000	Weak transcription	Pancreas	Pancrea
2	chr4:85512000-85531000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr4:85515400-85544400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr4:85515800-85530600	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr4:85517800-85531400	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr4:85518000-85530600	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr4:85518000-85531200	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr4:85518200-85529800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr4:85518600-85526000	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr4:85518600-85536200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr4:85518600-85574800	Weak transcription	Stomach Mucosa	stomach
12	chr4:85518800-85531000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr4:85519000-85530600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr4:85519000-85536000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr4:85519200-85527000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr4:85519600-85524400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr4:85519600-85527400	Weak transcription	NHEK	skin
18	chr4:85520200-85527400	Weak transcription	HMEC	breast
19	chr4:85520400-85527600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr4:85520400-85527800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr4:85520400-85527800	Weak transcription	Fetal Intestine Small	intestine
22	chr4:85520400-85529200	Weak transcription	Fetal Intestine Large	intestine
23	chr4:85520400-85529800	Weak transcription	Duodenum Mucosa	Duodenum
24	chr4:85520400-85559400	Weak transcription	Fetal Heart	heart

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