Variant report

Variant	rs4689148
Chromosome Location	chr4:7637297-7637298
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:7631134..7633371-chr4:7634868..7637393,3	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10212709	0.97[ASN][1000 genomes]
rs11722364	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11725335	0.90[ASN][1000 genomes]
rs2158276	1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2285790	0.97[ASN][1000 genomes]
rs4689147	0.87[ASN][1000 genomes]
rs4689149	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4689811	0.87[ASN][1000 genomes]
rs4689813	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4689814	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4689815	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56022132	0.97[ASN][1000 genomes]
rs7674184	0.90[ASN][1000 genomes]
rs7679741	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7685583	0.97[ASN][1000 genomes]
rs9991951	0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916610	chr4:7238883-7731946	Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
2	nsv1011547	chr4:7318232-7637410	Active TSS ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
3	nsv537017	chr4:7318232-7637410	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
4	esv34156	chr4:7526515-7750588	Active TSS Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
5	nsv878570	chr4:7534603-7836835	Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
6	nsv491712	chr4:7582506-8155069	Enhancers Bivalent Enhancer Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
7	nsv461213	chr4:7584560-7637297	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv593618	chr4:7584560-7637297	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv508272	chr4:7591967-7722112	Strong transcription Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	nsv517503	chr4:7632330-7639906	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
11	esv3371702	chr4:7633552-7637750	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
12	nsv878571	chr4:7637297-7743283	Enhancers Bivalent Enhancer ZNF genes & repeats Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7633200-7643800	Weak transcription	Brain Anterior Caudate	brain
2	chr4:7633400-7644400	Weak transcription	Ovary	ovary
3	chr4:7633800-7646000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr4:7634600-7644200	Weak transcription	Brain Substantia Nigra	brain
5	chr4:7634600-7644800	Weak transcription	Brain Angular Gyrus	brain
6	chr4:7634600-7645000	Weak transcription	Brain Hippocampus Middle	brain
7	chr4:7635000-7641600	Weak transcription	Fetal Brain Male	brain
8	chr4:7635000-7644600	Weak transcription	Brain Germinal Matrix	brain
9	chr4:7635200-7639800	Weak transcription	HepG2	liver
10	chr4:7635200-7645000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr4:7636000-7638800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr4:7636400-7638000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr4:7636400-7638200	Enhancers	Stomach Mucosa	stomach
14	chr4:7636400-7638200	Enhancers	Spleen	Spleen
15	chr4:7636400-7638400	Enhancers	Primary neutrophils fromperipheralblood	blood
16	chr4:7636600-7637800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
17	chr4:7636600-7638000	Enhancers	Pancreas	Pancrea
18	chr4:7636800-7637600	Enhancers	Primary B cells from cord blood	blood
19	chr4:7636800-7637600	Bivalent Enhancer	Adipose Nuclei	Adipose
20	chr4:7636800-7637800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr4:7636800-7646000	Weak transcription	Duodenum Mucosa	Duodenum
22	chr4:7637000-7641000	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr4:7637000-7641200	Weak transcription	Esophagus	oesophagus
24	chr4:7637200-7637400	Bivalent Enhancer	NHEK	skin

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