Variant report

Variant	rs2062329
Chromosome Location	chr4:152795693-152795694
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:152791629..152793817-chr4:152795687..152797994,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11099832	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11099833	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11099834	0.81[AMR][1000 genomes]
rs11723898	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11724664	0.83[AMR][1000 genomes]
rs12640963	0.82[CEU][hapmap]
rs13109860	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13145151	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17028150	0.81[AMR][1000 genomes]
rs1872513	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1984854	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2007237	0.82[CEU][hapmap];0.87[JPT][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs3885815	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4696119	0.86[CEU][hapmap];0.86[JPT][hapmap]
rs4696300	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4696301	0.87[CEU][hapmap];0.88[GIH][hapmap];0.87[JPT][hapmap];0.83[MEX][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4696302	0.87[CEU][hapmap];0.88[GIH][hapmap];0.87[JPT][hapmap];0.83[MEX][hapmap];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4696304	0.82[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:39 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432644	chr4:152635395-153023402	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	esv2757086	chr4:152776271-152809738	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	esv2759289	chr4:152776271-152809738	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	esv2752466	chr4:152789393-152796767	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
5	esv2752955	chr4:152789393-152796767	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
6	esv2753159	chr4:152789393-152796767	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
7	esv2753180	chr4:152789393-152796767	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
8	esv2753602	chr4:152789393-152796767	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
9	esv2754031	chr4:152789393-152796767	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
10	esv2754203	chr4:152789393-152796767	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
11	esv2754258	chr4:152789393-152796767	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
12	esv2754606	chr4:152789393-152796767	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
13	esv2754843	chr4:152789393-152796767	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
14	esv2756543	chr4:152789393-152796767	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
15	nsv432645	chr4:152789393-152797766	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
16	esv2754342	chr4:152789393-152798621	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
17	esv2755596	chr4:152789393-152798621	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
18	esv2752477	chr4:152789393-152799374	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
19	esv2752342	chr4:152789393-152805443	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
20	esv2753274	chr4:152789393-152805609	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
21	esv3529239	chr4:152789452-152795750	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
22	esv3529241	chr4:152789452-152795750	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
23	nsv595731	chr4:152790580-152831309	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
24	esv2753482	chr4:152791533-152796767	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
25	esv2753858	chr4:152791533-152796767	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
26	esv2754549	chr4:152791533-152796767	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
27	esv2754615	chr4:152791533-152796767	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
28	esv2755352	chr4:152791533-152796767	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
29	esv2756138	chr4:152791533-152796767	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
30	esv2756397	chr4:152791533-152796767	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
31	nsv432648	chr4:152791533-152796767	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
32	esv2755684	chr4:152791533-152797766	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
33	nsv432654	chr4:152791533-152797766	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
34	esv2755381	chr4:152791533-152799374	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
35	esv2754023	chr4:152791533-152805609	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
36	nsv432650	chr4:152791533-152805609	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
37	nsv432652	chr4:152791533-152818018	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
38	nsv1030328	chr4:152791533-152875666	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
39	nsv1028836	chr4:152791680-152879097	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:152789000-152796200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr4:152791400-152800200	Weak transcription	Fetal Brain Male	brain
3	chr4:152794600-152796800	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr4:152794800-152796400	Enhancers	H9 Cell Line	embryonic stem cell
5	chr4:152794800-152796400	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr4:152794800-152796600	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr4:152794800-152796600	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr4:152794800-152796600	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr4:152794800-152797400	Enhancers	H1 Cell Line	embryonic stem cell
10	chr4:152795000-152796600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr4:152795000-152796600	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr4:152795000-152798000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr4:152795400-152796400	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr4:152795600-152796000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr4:152795600-152796000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
16	chr4:152795600-152796000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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