Variant report

Variant	rs11934874
Chromosome Location	chr4:142134815-142134816
allele	A/C
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:0)
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	chr4:142134774-142134824	NH-A	brain:	n/a
2	chr4:142134774-142134824	HepG2	liver:	n/a
3	chr4:142134774-142134824	BJ	skin:	n/a
4	chr4:142134774-142134824	AG09309	skin:	n/a
5	chr4:142134774-142134824	HEK293	kidney:	embryo
6	chr4:142134774-142134824	GM12892	blood:	n/a
7	chr4:142134774-142134824	NT2-D1	testis:	n/a
8	chr4:142134774-142134824	CMK	blood:	n/a
9	chr4:142134774-142134824	GM06990	blood:	n/a
10	chr4:142134774-142134824	AG04450	lung:	fetal
11	chr4:142134774-142134824	Hepatocyte	liver:	n/a
12	chr4:142134774-142134824	A549	lung:	n/a
13	chr4:142134774-142134824	ovcar-3	ovarian:	n/a
14	chr4:142134774-142134824	HCF	heart:	n/a
15	chr4:142134774-142134824	Caco-2	colon:	n/a
16	chr4:142134774-142134824	HPAEpiC	pulmonary alveolar:	n/a
17	chr4:142134774-142134824	HRE	kidney:	n/a
18	chr4:142134774-142134824	ECC-1	luminal epithelium:	n/a
19	chr4:142134774-142134824	SKMC	muscle:	n/a
20	chr4:142134774-142134824	SK-N-MC	brain:	n/a
21	chr4:142134774-142134824	NHDF-neo	bronchial:	n/a
22	chr4:142134774-142134824	PANC-1	pancreas:	n/a
23	chr4:142134774-142134824	HCT-116	colon:	n/a
24	chr4:142134774-142134824	Jurkat	blood:	n/a
25	chr4:142134774-142134824	MCF10A-Er-Src	breast:	n/a
26	chr4:142134774-142134824	ProgFib	skin:	n/a
27	chr4:142134774-142134824	AG04449	skin:	fetal
28	chr4:142134774-142134824	HEEpiC	esophagus:	n/a
29	chr4:142134774-142134824	AG10803	skin:	n/a
30	chr4:142134774-142134824	HCPEpiC	choroid plexus:	n/a
31	chr4:142134774-142134824	HNPCEpiC	eye:	n/a
32	chr4:142134774-142134824	GM12878	blood:	n/a
33	chr4:142134774-142134824	HL-60	blood:	n/a
34	chr4:142134774-142134824	SK-N-SH_RA	brain:	n/a
35	chr4:142134774-142134824	H1-hESC	embryonic stem cell:	embryo
36	chr4:142134774-142134824	LNCaP	prostate:	n/a
37	chr4:142134774-142134824	HAEpiC	amniotic membrane:	n/a
38	chr4:142134774-142134824	AG09319	gingival:	n/a
39	chr4:142134774-142134824	PFSK-1	brain:	n/a
40	chr4:142134774-142134824	RPTEC	kidney:	n/a
41	chr4:142134774-142134824	HCM	heart:	n/a
42	chr4:142134774-142134824	NHBE	bronchial:	n/a
43	chr4:142134774-142134824	SAEC	small airway:	n/a
44	chr4:142134774-142134824	BE2_C	brain:	n/a
45	chr4:142134774-142134824	T-47D	breast:	n/a
46	chr4:142134774-142134824	U87	brain:	n/a
47	chr4:142134774-142134824	AoSMC	blood vessel:	n/a
48	chr4:142134774-142134824	HIPEpiC	eye:	n/a
49	chr4:142134774-142134824	IMR90	lung:	fetal
50	chr4:142134774-142134824	HRPEpiC	eye:	n/a

No data

Variant related genes	Relation type
RNF150	CpG island

Extended variants
information (count: 36 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs11100712	0.94[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11100713	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12646903	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12649778	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1435129	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1435134	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1550057	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17007017	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17007038	0.95[CEU][hapmap];0.94[JPT][hapmap];0.93[EUR][1000 genomes]
rs17350440	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34402449	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3733484	0.83[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3756106	0.94[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3775594	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4956527	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4956528	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4956529	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58253388	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs59162293	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62327562	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62327564	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62327566	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62327586	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6851044	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6855774	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6856137	0.94[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs715378	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7663811	0.94[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7679975	0.94[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7684664	0.94[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7697238	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7698661	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9637655	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.91[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	nsv880170	chr4:142046828-142137165	Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	esv2757959	chr4:142065661-142367951	Enhancers Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	esv2759287	chr4:142065661-142367951	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11934874	ZNF330	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:142133800-142141400	Weak transcription	Brain Hippocampus Middle	brain
2	chr4:142134600-142135200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr4:142134600-142135200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell

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