Variant report

Variant	rs9997649
Chromosome Location	chr4:152987444-152987445
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1019638	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11099840	0.91[ASN][1000 genomes]
rs13106080	0.91[ASN][1000 genomes]
rs13107216	1.00[CHB][hapmap]
rs13123917	0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs13130547	0.91[ASN][1000 genomes]
rs13130730	0.91[ASN][1000 genomes]
rs13143024	0.91[ASN][1000 genomes]
rs13149643	0.91[ASN][1000 genomes]
rs1469241	0.91[ASN][1000 genomes]
rs17276212	0.91[ASN][1000 genomes]
rs17361055	0.81[AMR][1000 genomes]
rs28437668	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs28713731	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34961631	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4696128	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7683987	0.83[ASN][1000 genomes]
rs7695495	0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	nsv880341	chr4:152861685-153110256	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv931416	chr4:152877808-153440553	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	nsv461679	chr4:152935555-152992741	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv595734	chr4:152935555-152992741	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:152983800-153000800	Enhancers	Fetal Thymus	thymus
2	chr4:152984000-152988000	Enhancers	Dnd41	blood
3	chr4:152984000-152988200	Enhancers	Thymus	Thymus
4	chr4:152984400-152987600	Enhancers	Fetal Muscle Leg	muscle
5	chr4:152985200-152990000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr4:152985200-152993400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr4:152985200-152996200	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr4:152985200-153000000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr4:152986200-152990000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr4:152986400-152987600	Enhancers	Primary T cells fromperipheralblood	blood
11	chr4:152986400-152987600	Enhancers	Primary T helper cells PMA-I stimulated	--
12	chr4:152986400-152989800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr4:152986600-152988400	Weak transcription	Right Atrium	heart
14	chr4:152986600-152988600	Weak transcription	Psoas Muscle	Psoas
15	chr4:152986600-152989600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr4:152986600-152993200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr4:152986800-152988000	Enhancers	Primary T cells from cord blood	blood
18	chr4:152986800-152998000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr4:152987200-152987600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
20	chr4:152987200-152989400	Weak transcription	Primary T helper cells fromperipheralblood	blood

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