Variant report

Variant	rs6839158
Chromosome Location	chr4:143771325-143771326
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:1)
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	chr4:143771325-143771375	HAEpiC	amniotic membrane:	n/a
2	chr4:143771325-143771375	GM12892	blood:	n/a
3	chr4:143771325-143771375	A549	lung:	n/a
4	chr4:143771325-143771375	H1-hESC	embryonic stem cell:	embryo
5	chr4:143771325-143771375	LNCaP	prostate:	n/a
6	chr4:143771325-143771375	IMR90	lung:	fetal
7	chr4:143771325-143771375	AG10803	skin:	n/a
8	chr4:143771325-143771375	PANC-1	pancreas:	n/a
9	chr4:143771325-143771375	HRCEpiC	kidney:	n/a
10	chr4:143771325-143771375	NB4	blood:	n/a
11	chr4:143771325-143771375	HepG2	liver:	n/a
12	chr4:143771325-143771375	HCT-116	colon:	n/a
13	chr4:143771325-143771375	NHBE	bronchial:	n/a
14	chr4:143771325-143771375	ECC-1	luminal epithelium:	n/a
15	chr4:143771325-143771375	HCPEpiC	choroid plexus:	n/a
16	chr4:143771325-143771375	HIPEpiC	eye:	n/a
17	chr4:143771325-143771375	HCF	heart:	n/a
18	chr4:143771325-143771375	AG04450	lung:	fetal
19	chr4:143771325-143771375	BJ	skin:	n/a
20	chr4:143771325-143771375	MCF10A-Er-Src	breast:	n/a
21	chr4:143771325-143771375	AoSMC	blood vessel:	n/a
22	chr4:143771325-143771375	BE2_C	brain:	n/a
23	chr4:143771325-143771375	NT2-D1	testis:	n/a
24	chr4:143771325-143771375	HEEpiC	esophagus:	n/a
25	chr4:143771325-143771375	Hepatocyte	liver:	n/a
26	chr4:143771325-143771375	RPTEC	kidney:	n/a
27	chr4:143771325-143771375	GM12891	blood:	n/a
28	chr4:143771325-143771375	AG09319	gingival:	n/a
29	chr4:143771325-143771375	Caco-2	colon:	n/a
30	chr4:143771325-143771375	HRPEpiC	eye:	n/a
31	chr4:143771325-143771375	HPAEpiC	pulmonary alveolar:	n/a
32	chr4:143771325-143771375	Jurkat	blood:	n/a
33	chr4:143771325-143771375	K562	blood:	n/a
34	chr4:143771325-143771375	PrEC	prostate:	n/a
35	chr4:143771325-143771375	HL-60	blood:	n/a
36	chr4:143771325-143771375	AG09309	skin:	n/a
37	chr4:143771325-143771375	GM06990	blood:	n/a
38	chr4:143771325-143771375	HNPCEpiC	eye:	n/a
39	chr4:143771325-143771375	HRE	kidney:	n/a
40	chr4:143771325-143771375	U87	brain:	n/a
41	chr4:143771325-143771375	GM19239	blood:	n/a
42	chr4:143771325-143771375	NHDF-neo	bronchial:	n/a
43	chr4:143771325-143771375	HEK293	kidney:	embryo
44	chr4:143771325-143771375	HCM	heart:	n/a
45	chr4:143771325-143771375	CMK	blood:	n/a
46	chr4:143771325-143771375	SKMC	muscle:	n/a
47	chr4:143771325-143771375	GM12878	blood:	n/a
48	chr4:143771325-143771375	HMEC	breast:	n/a
49	chr4:143771325-143771375	AG04449	skin:	fetal
50	chr4:143771325-143771375	MCF-7	breast:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:143766308..143769108-chr4:143769485..143773998,4	MCF-7	breast:

No data

Variant related genes	Relation type
INPP4B	CpG island
ENSG00000109452	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs1031104	1.00[CHB][hapmap]
rs10519666	0.80[ASN][1000 genomes]
rs10857399	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs11100761	0.81[ASN][1000 genomes]
rs11736709	0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11943397	0.90[CHB][hapmap]
rs11944455	0.81[CHB][hapmap]
rs13112916	0.86[ASN][1000 genomes]
rs13122287	0.87[ASN][1000 genomes]
rs13145724	0.86[ASN][1000 genomes]
rs1441411	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1441417	1.00[CHB][hapmap];0.93[JPT][hapmap];0.94[ASN][1000 genomes]
rs1441418	0.84[CEU][hapmap];0.81[ASN][1000 genomes]
rs1443187	1.00[CHB][hapmap]
rs1444949	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1444950	0.85[ASN][1000 genomes]
rs17016768	0.90[CHB][hapmap]
rs17732791	0.80[ASN][1000 genomes]
rs1899565	0.90[CHB][hapmap]
rs1992417	0.80[ASN][1000 genomes]
rs1992418	0.80[ASN][1000 genomes]
rs1992652	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2120158	0.90[CHB][hapmap]
rs2218240	0.88[CEU][hapmap];0.86[ASN][1000 genomes]
rs331945	0.90[CHB][hapmap]
rs34831472	0.80[ASN][1000 genomes]
rs4575951	0.86[ASN][1000 genomes]
rs4690728	0.88[CEU][hapmap];0.86[ASN][1000 genomes]
rs4690729	0.91[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs58445560	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs60263370	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6537129	0.90[CHB][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.92[TSI][hapmap];0.91[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6537130	0.86[ASN][1000 genomes]
rs6811022	0.84[CEU][hapmap];0.81[ASN][1000 genomes]
rs6822703	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs6823627	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6828896	0.91[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6830053	1.00[CHB][hapmap]
rs6831204	0.83[ASN][1000 genomes]
rs6838663	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6846609	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72728686	0.80[ASN][1000 genomes]
rs72728694	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs72728700	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72730409	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73850583	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7656375	0.90[CHB][hapmap];0.93[JPT][hapmap];0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7660533	0.81[ASN][1000 genomes]
rs7663475	0.90[CHB][hapmap];0.86[JPT][hapmap];0.85[ASN][1000 genomes]
rs7666140	0.90[CHB][hapmap]
rs7668552	0.80[ASN][1000 genomes]
rs7668786	0.80[ASN][1000 genomes]
rs7670139	0.86[ASN][1000 genomes]
rs7685997	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs978361	0.90[CHB][hapmap]
rs9994364	0.84[CEU][hapmap];0.83[ASN][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	nsv880174	chr4:143639498-143848024	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:143768600-143772400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:143768600-143781200	Weak transcription	Psoas Muscle	Psoas
3	chr4:143769000-143771800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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