Variant report

Variant	rs6884442
Chromosome Location	chr5:75988434-75988435
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:75987359..75989456-chr5:75991308..75993702,2	K562	blood:
2	chr5:75987956..75990820-chr5:75991308..75992869,2	K562	blood:
3	chr5:75986793..75988568-chr5:75989789..75992230,2	MCF-7	breast:

Extended variants
information (count: 11 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10514070	0.81[CEU][hapmap];0.82[AMR][1000 genomes]
rs10514071	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12735	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2227750	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs2243004	1.00[ASW][hapmap]
rs59373894	0.87[ASN][1000 genomes]
rs62363009	0.96[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62363038	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6887764	0.94[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	nsv1019669	chr5:75836365-76477788	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv1035135	chr5:75927027-76092058	Strong transcription Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6884442	F2RL1	cis	multi-tissue	Pritchard

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:75945200-76001000	Strong transcription	Monocytes-CD14+_RO01746	blood
2	chr5:75946400-76001000	Strong transcription	Primary monocytes fromperipheralblood	blood
3	chr5:75947800-75992000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
4	chr5:75948000-76004600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr5:75950800-75999400	Weak transcription	Ovary	ovary
6	chr5:75951800-76001400	Weak transcription	Rectal Smooth Muscle	rectum
7	chr5:75955000-75996600	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr5:75967000-75991200	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr5:75969800-75999600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr5:75971200-75991000	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr5:75971400-75991200	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr5:75973200-75989600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr5:75973800-75991400	Weak transcription	Fetal Thymus	thymus
14	chr5:75975000-75989000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr5:75975600-75999600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr5:75977600-75991000	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr5:75977600-76003400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr5:75978400-75989600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr5:75978400-76001600	Strong transcription	Primary T cells fromperipheralblood	blood
20	chr5:75978400-76004400	Strong transcription	Primary T helper cells fromperipheralblood	blood
21	chr5:75978600-76003400	Strong transcription	Primary T helper cells PMA-I stimulated	--
22	chr5:75979800-75996200	Strong transcription	Liver	Liver
23	chr5:75980600-76002600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr5:75980800-75989600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr5:75980800-76000200	Strong transcription	Primary hematopoietic stem cells	blood
26	chr5:75981000-75988600	Weak transcription	Pancreas	Pancrea
27	chr5:75981200-76001600	Weak transcription	Primary B cells from peripheral blood	blood
28	chr5:75982000-75988600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr5:75983200-75988800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr5:75983400-75989000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr5:75984000-75989000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr5:75984200-75988600	Enhancers	Fetal Intestine Large	intestine
33	chr5:75984200-75989600	Enhancers	Fetal Intestine Small	intestine
34	chr5:75984400-75988600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr5:75985400-75989000	Enhancers	NHLF	lung
36	chr5:75985400-75989200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr5:75985600-75988800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr5:75985600-75989000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr5:75985800-76004400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr5:75986200-75988600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr5:75986200-75988800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr5:75986200-75988800	Enhancers	NHDF-Ad	bronchial
43	chr5:75986400-75989000	Enhancers	HSMMtube	muscle
44	chr5:75986600-75988800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr5:75986600-75988800	Enhancers	Lung	lung
46	chr5:75986600-75996800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr5:75986600-76000000	Strong transcription	Primary B cells from cord blood	blood
48	chr5:75987000-75988800	Enhancers	HSMM	muscle
49	chr5:75987400-75988800	Enhancers	Fetal Muscle Trunk	muscle
50	chr5:75987400-75993800	Weak transcription	HepG2	liver

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