Variant report

Variant	rs4866831
Chromosome Location	chr5:43487508-43487509
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:61)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:43487508-43487558	T-47D	breast:	n/a
2	chr5:43487508-43487558	H1-hESC	embryonic stem cell:	embryo
3	chr5:43487508-43487558	PFSK-1	brain:	n/a
4	chr5:43487508-43487558	Hela-S3	cervix:	n/a
5	chr5:43487508-43487558	SK-N-MC	brain:	n/a
6	chr5:43487508-43487558	ECC-1	luminal epithelium:	n/a
7	chr5:43487508-43487558	HCPEpiC	choroid plexus:	n/a
8	chr5:43487508-43487558	LNCaP	prostate:	n/a
9	chr5:43487508-43487558	AG09309	skin:	n/a
10	chr5:43487508-43487558	A549	lung:	n/a
11	chr5:43487508-43487558	HepG2	liver:	n/a
12	chr5:43487508-43487558	AG09319	gingival:	n/a
13	chr5:43487508-43487558	GM06990	blood:	n/a
14	chr5:43487508-43487558	Caco-2	colon:	n/a
15	chr5:43487508-43487558	RPTEC	kidney:	n/a
16	chr5:43487508-43487558	SKMC	muscle:	n/a
17	chr5:43487508-43487558	AG04450	lung:	fetal
18	chr5:43487508-43487558	HCF	heart:	n/a
19	chr5:43487508-43487558	GM12891	blood:	n/a
20	chr5:43487508-43487558	NB4	blood:	n/a
21	chr5:43487508-43487558	Jurkat	blood:	n/a
22	chr5:43487508-43487558	NHBE	bronchial:	n/a
23	chr5:43487508-43487558	NT2-D1	testis:	n/a
24	chr5:43487508-43487558	HPAEpiC	pulmonary alveolar:	n/a
25	chr5:43487508-43487558	HMEC	breast:	n/a
26	chr5:43487508-43487558	SK-N-SH_RA	brain:	n/a
27	chr5:43487508-43487558	AoSMC	blood vessel:	n/a
28	chr5:43487508-43487558	U87	brain:	n/a
29	chr5:43487508-43487558	PrEC	prostate:	n/a
30	chr5:43487508-43487558	NH-A	brain:	n/a
31	chr5:43487508-43487558	IMR90	lung:	fetal
32	chr5:43487508-43487558	HRPEpiC	eye:	n/a
33	chr5:43487508-43487558	CMK	blood:	n/a
34	chr5:43487508-43487558	HL-60	blood:	n/a
35	chr5:43487508-43487558	Hepatocyte	liver:	n/a
36	chr5:43487508-43487558	AG10803	skin:	n/a
37	chr5:43487508-43487558	ProgFib	skin:	n/a
38	chr5:43487508-43487558	HNPCEpiC	eye:	n/a
39	chr5:43487508-43487558	HRE	kidney:	n/a
40	chr5:43487508-43487558	HCM	heart:	n/a
41	chr5:43487508-43487558	PANC-1	pancreas:	n/a
42	chr5:43487508-43487558	MCF-7	breast:	n/a
43	chr5:43487508-43487558	BE2_C	brain:	n/a
44	chr5:43487508-43487558	NHDF-neo	bronchial:	n/a
45	chr5:43487508-43487558	MCF10A-Er-Src	breast:	n/a
46	chr5:43487508-43487558	AG04449	skin:	fetal
47	chr5:43487508-43487558	HEK293	kidney:	embryo
48	chr5:43487508-43487558	HUVEC	blood vessel:	n/a
49	chr5:43487508-43487558	SAEC	small airway:	n/a
50	chr5:43487508-43487558	GM12892	blood:	n/a

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:172313798..172314343-chr5:43486643..43487623,2	MCF-7	breast:
2	chr5:43486106..43488978-chr5:43507270..43509825,2	K562	blood:
3	chr5:43283734..43286353-chr5:43486152..43488846,2	K562	blood:
4	chr5:43486040..43488414-chr5:43536255..43538183,2	MCF-7	breast:
5	chr5:43485676..43488495-chr5:43528382..43530215,2	K562	blood:

No data

Variant related genes	Relation type
C5orf28	CpG island

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10036954	0.86[ASN][1000 genomes]
rs10038545	0.82[ASN][1000 genomes]
rs10053229	0.86[ASN][1000 genomes]
rs10066408	0.86[ASN][1000 genomes]
rs10068064	0.86[ASN][1000 genomes]
rs10473311	0.82[ASN][1000 genomes]
rs2132001	0.82[ASN][1000 genomes]
rs2132003	0.86[ASN][1000 genomes]
rs3776423	0.86[ASN][1000 genomes]
rs4074777	0.86[ASN][1000 genomes]
rs4866830	0.95[ASN][1000 genomes]
rs56252541	0.86[ASN][1000 genomes]
rs56333629	0.81[ASN][1000 genomes]
rs57403343	0.86[ASN][1000 genomes]
rs6451699	0.82[ASN][1000 genomes]
rs6451704	0.86[ASN][1000 genomes]
rs6451705	0.86[ASN][1000 genomes]
rs66495712	0.82[ASN][1000 genomes]
rs67466542	0.86[ASN][1000 genomes]
rs6858942	0.81[ASN][1000 genomes]
rs6878770	0.82[ASN][1000 genomes]
rs6895327	0.86[ASN][1000 genomes]
rs6896693	0.86[ASN][1000 genomes]
rs72756535	0.86[ASN][1000 genomes]
rs72758674	0.89[ASN][1000 genomes]
rs754301	0.82[ASN][1000 genomes]
rs7710628	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv881017	chr5:43444826-43731692	Weak transcription Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	222 gene(s)	inside rSNPs	diseases
2	nsv830275	chr5:43469511-43639384	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	220 gene(s)	inside rSNPs	diseases
3	esv1802134	chr5:43476545-43492449	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	142 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:43484800-43487600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
2	chr5:43484800-43498000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr5:43484800-43502800	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr5:43484800-43502800	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr5:43484800-43502800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr5:43484800-43502800	Weak transcription	Fetal Muscle Trunk	muscle
7	chr5:43484800-43505600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr5:43484800-43511000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr5:43484800-43514000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr5:43484800-43514600	Weak transcription	Ovary	ovary
11	chr5:43484800-43514800	Weak transcription	Spleen	Spleen
12	chr5:43485000-43488200	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr5:43485000-43488200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr5:43485000-43488400	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr5:43485000-43497800	Weak transcription	Placenta	Placenta
16	chr5:43485000-43501000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr5:43485000-43501000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr5:43485000-43502600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr5:43485000-43503000	Weak transcription	NHEK	skin
20	chr5:43485000-43503400	Weak transcription	Brain Germinal Matrix	brain
21	chr5:43485000-43504600	Weak transcription	Fetal Muscle Leg	muscle
22	chr5:43485000-43505000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr5:43485000-43513400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr5:43485000-43513800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr5:43485000-43514200	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr5:43485200-43488000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr5:43485200-43488200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr5:43485200-43488200	Weak transcription	HUVEC	blood vessel
29	chr5:43485200-43488800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr5:43485200-43489200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr5:43485200-43489400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr5:43485200-43490200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr5:43485200-43502800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr5:43485200-43505400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr5:43485200-43505400	Weak transcription	Fetal Intestine Large	intestine
36	chr5:43485200-43505400	Weak transcription	Fetal Stomach	stomach
37	chr5:43485200-43506000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr5:43485200-43506000	Weak transcription	Adipose Nuclei	Adipose
39	chr5:43485200-43513200	Weak transcription	NHDF-Ad	bronchial
40	chr5:43485200-43513200	Weak transcription	NHLF	lung
41	chr5:43485200-43513400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr5:43485200-43513400	Weak transcription	Fetal Lung	lung
43	chr5:43485200-43513600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr5:43485200-43513600	Weak transcription	Fetal Intestine Small	intestine
45	chr5:43485200-43513600	Weak transcription	HSMM	muscle
46	chr5:43485200-43513600	Weak transcription	NH-A	brain
47	chr5:43485200-43514200	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr5:43485400-43495800	Weak transcription	Colon Smooth Muscle	Colon
49	chr5:43485400-43501200	Weak transcription	A549	lung
50	chr5:43485400-43502800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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