Variant report

Variant	rs4838447
Chromosome Location	chr10:50328539-50328540
allele	A/G
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:3)
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	chr10:50328538-50328588	Jurkat	blood:	n/a
2	chr10:50328538-50328588	K562	blood:	n/a
3	chr10:50328538-50328588	HL-60	blood:	n/a
4	chr10:50328538-50328588	HepG2	liver:	n/a
5	chr10:50328538-50328588	SKMC	muscle:	n/a
6	chr10:50328538-50328588	GM12891	blood:	n/a
7	chr10:50328538-50328588	AG04449	skin:	fetal
8	chr10:50328538-50328588	RPTEC	kidney:	n/a
9	chr10:50328538-50328588	IMR90	lung:	fetal
10	chr10:50328538-50328588	LNCaP	prostate:	n/a
11	chr10:50328538-50328588	HEK293	kidney:	embryo
12	chr10:50328538-50328588	HIPEpiC	eye:	n/a
13	chr10:50328538-50328588	HRCEpiC	kidney:	n/a
14	chr10:50328538-50328588	A549	lung:	n/a
15	chr10:50328538-50328588	ProgFib	skin:	n/a
16	chr10:50328538-50328588	U87	brain:	n/a
17	chr10:50328538-50328588	BJ	skin:	n/a
18	chr10:50328538-50328588	SK-N-SH_RA	brain:	n/a
19	chr10:50328538-50328588	AoSMC	blood vessel:	n/a
20	chr10:50328538-50328588	SAEC	small airway:	n/a
21	chr10:50328538-50328588	Hepatocyte	liver:	n/a
22	chr10:50328538-50328588	AG09319	gingival:	n/a
23	chr10:50328538-50328588	NHBE	bronchial:	n/a
24	chr10:50328538-50328588	HCF	heart:	n/a
25	chr10:50328538-50328588	GM12878	blood:	n/a
26	chr10:50328538-50328588	BE2_C	brain:	n/a
27	chr10:50328538-50328588	CMK	blood:	n/a
28	chr10:50328538-50328588	GM06990	blood:	n/a
29	chr10:50328538-50328588	NHDF-neo	bronchial:	n/a
30	chr10:50328538-50328588	H1-hESC	embryonic stem cell:	embryo
31	chr10:50328538-50328588	ECC-1	luminal epithelium:	n/a
32	chr10:50328538-50328588	AG10803	skin:	n/a
33	chr10:50328538-50328588	NT2-D1	testis:	n/a
34	chr10:50328538-50328588	HEEpiC	esophagus:	n/a
35	chr10:50328538-50328588	PANC-1	pancreas:	n/a
36	chr10:50328538-50328588	HCM	heart:	n/a
37	chr10:50328538-50328588	SK-N-MC	brain:	n/a
38	chr10:50328538-50328588	GM19239	blood:	n/a
39	chr10:50328538-50328588	Caco-2	colon:	n/a
40	chr10:50328538-50328588	AG04450	lung:	fetal
41	chr10:50328538-50328588	MCF-7	breast:	n/a
42	chr10:50328538-50328588	HRPEpiC	eye:	n/a
43	chr10:50328538-50328588	HAEpiC	amniotic membrane:	n/a
44	chr10:50328538-50328588	NH-A	brain:	n/a
45	chr10:50328538-50328588	NB4	blood:	n/a
46	chr10:50328538-50328588	PFSK-1	brain:	n/a
47	chr10:50328538-50328588	ovcar-3	ovarian:	n/a
48	chr10:50328538-50328588	HUVEC	blood vessel:	n/a
49	chr10:50328538-50328588	HPAEpiC	pulmonary alveolar:	n/a
50	chr10:50328538-50328588	T-47D	breast:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr10:50321527..50324998-chr10:50325157..50328658,6	K562	blood:
2	chr10:50327680..50329332-chr10:50338988..50341061,2	K562	blood:
3	chr10:50281055..50283973-chr10:50326395..50329291,2	K562	blood:

No data

Variant related genes	Relation type
VSTM4	CpG island
FAM170B-AS1	CpG island
ENSG00000165633	Chromatin interaction

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs10218995	0.83[JPT][hapmap]
rs11100988	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11100989	1.00[CEU][hapmap];0.88[CHB][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11100990	0.95[CEU][hapmap];0.87[CHB][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11592975	0.94[YRI][hapmap]
rs12240534	0.91[CEU][hapmap];0.88[CHB][hapmap];0.82[AMR][1000 genomes]
rs12246766	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12255055	0.93[CHB][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12267388	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12269023	0.86[CEU][hapmap]
rs12765281	0.88[CHB][hapmap]
rs12776553	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13088	0.91[CEU][hapmap];0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17773851	0.88[CHB][hapmap]
rs17782733	0.87[CHB][hapmap]
rs1986725	0.96[CEU][hapmap];0.88[CHB][hapmap];0.95[EUR][1000 genomes]
rs2246463	0.82[CEU][hapmap]
rs2466756	0.83[JPT][hapmap]
rs2725179	0.82[CHB][hapmap]
rs2725180	0.83[JPT][hapmap]
rs2725181	0.82[CHB][hapmap]
rs2725192	0.83[JPT][hapmap]
rs2725200	1.00[JPT][hapmap]
rs2804933	0.83[JPT][hapmap]
rs2804934	0.86[CEU][hapmap];0.82[CHB][hapmap]
rs2804937	0.88[CHB][hapmap]
rs2804939	0.95[CEU][hapmap];0.87[CHB][hapmap];0.92[EUR][1000 genomes]
rs2804940	0.93[EUR][1000 genomes]
rs34056748	0.81[ASN][1000 genomes]
rs34786393	0.81[ASN][1000 genomes]
rs35007047	0.80[ASN][1000 genomes]
rs35666409	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs36015645	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4073711	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4073712	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4128908	0.86[CEU][hapmap]
rs4240499	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4240500	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4284329	0.83[YRI][hapmap]
rs4319434	0.83[JPT][hapmap]
rs4344406	0.91[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4350286	1.00[CEU][hapmap];0.88[CHB][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4403731	0.87[CEU][hapmap];0.80[AMR][1000 genomes]
rs4412679	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4417190	1.00[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4497320	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4509682	0.92[CEU][hapmap];0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4532948	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4558091	0.91[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4559606	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4620641	1.00[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4838365	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4838367	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4838446	0.91[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58893558	0.81[ASN][1000 genomes]
rs6537493	0.82[CEU][hapmap]
rs6537497	0.87[CEU][hapmap]
rs6537499	0.83[JPT][hapmap]
rs7072243	0.91[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7094217	0.83[JPT][hapmap]
rs7097933	0.86[CEU][hapmap];0.80[AMR][1000 genomes]
rs7100655	0.87[CHB][hapmap]
rs7897289	0.83[CEU][hapmap]
rs7906722	0.83[CEU][hapmap]
rs7916825	0.83[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831866	chr10:50165180-50335276	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
2	esv2761593	chr10:50276812-50336129	Weak transcription Genic enhancers Flanking Active TSS Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv895375	chr10:50306386-51028871	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
4	esv1824894	chr10:50309905-50340304	Genic enhancers Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv534410	chr10:50317458-50826916	Weak transcription Bivalent Enhancer Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
6	esv1818143	chr10:50323229-50332930	Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:50324000-50343600	Weak transcription	Right Atrium	heart
2	chr10:50325000-50338600	Weak transcription	Fetal Muscle Trunk	muscle
3	chr10:50325000-50339400	Weak transcription	Ovary	ovary
4	chr10:50326800-50328800	Weak transcription	Thymus	Thymus
5	chr10:50327600-50328600	Enhancers	Fetal Muscle Leg	muscle
6	chr10:50327600-50330200	Enhancers	Fetal Thymus	thymus
7	chr10:50328000-50328600	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr10:50328000-50329000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr10:50328400-50328600	Enhancers	Fetal Stomach	stomach
10	chr10:50328400-50328800	Weak transcription	HSMMtube	muscle
11	chr10:50328400-50329000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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