Variant report

Variant	rs62246142
Chromosome Location	chr3:46458394-46458395
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:46448370..46452594-chr3:46456008..46460093,7	K562	blood:
2	chr3:46447193..46451507-chr3:46453329..46458994,6	K562	blood:
3	chr3:46451682..46454304-chr3:46456370..46459250,2	K562	blood:
4	chr3:46457920..46459873-chr3:46460241..46461934,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000223552	Chromatin interaction
ENSG00000121797	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs17141081	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1894389	0.90[ASN][1000 genomes]
rs2097276	0.82[ASN][1000 genomes]
rs34001666	0.82[ASN][1000 genomes]
rs34127016	0.82[ASN][1000 genomes]
rs34158984	0.82[ASN][1000 genomes]
rs34376243	0.82[ASN][1000 genomes]
rs34474200	0.82[ASN][1000 genomes]
rs34629133	0.82[ASN][1000 genomes]
rs34783306	0.82[ASN][1000 genomes]
rs34932765	0.82[ASN][1000 genomes]
rs35217732	0.82[ASN][1000 genomes]
rs35832211	0.82[ASN][1000 genomes]
rs35895909	0.82[ASN][1000 genomes]
rs36056379	0.82[ASN][1000 genomes]
rs36082746	0.82[ASN][1000 genomes]
rs4345106	0.82[ASN][1000 genomes]
rs4607147	0.82[ASN][1000 genomes]
rs4630979	0.82[ASN][1000 genomes]
rs62246129	0.86[ASN][1000 genomes]
rs62246130	0.86[ASN][1000 genomes]
rs62246140	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6441978	0.81[ASN][1000 genomes]
rs7610554	0.81[ASN][1000 genomes]
rs7613140	0.82[ASN][1000 genomes]
rs7613142	0.82[ASN][1000 genomes]
rs7615686	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7632215	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7645961	0.82[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	nsv876734	chr3:45725031-46468467	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	esv3323840	chr3:46352348-46497196	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	esv3389382	chr3:46352798-46496696	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:46438800-46459800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr3:46448600-46460000	Weak transcription	Gastric	stomach
3	chr3:46451600-46458400	Enhancers	Fetal Heart	heart
4	chr3:46455800-46496800	Strong transcription	Primary neutrophils fromperipheralblood	blood
5	chr3:46456400-46458600	Enhancers	Lung	lung
6	chr3:46456600-46458600	Enhancers	Fetal Thymus	thymus
7	chr3:46456600-46469400	Weak transcription	Right Atrium	heart
8	chr3:46456800-46458600	Enhancers	K562	blood
9	chr3:46456800-46458800	Enhancers	Fetal Intestine Small	intestine
10	chr3:46456800-46459200	Enhancers	Fetal Intestine Large	intestine
11	chr3:46457000-46458600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr3:46457200-46458600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr3:46457400-46458400	Enhancers	Rectal Mucosa Donor 31	rectum
14	chr3:46457400-46458600	Enhancers	Right Ventricle	heart
15	chr3:46457400-46458800	Enhancers	Primary hematopoietic stem cells	blood
16	chr3:46457400-46459200	Enhancers	Dnd41	blood
17	chr3:46457400-46459600	Enhancers	Left Ventricle	heart
18	chr3:46457600-46458400	Enhancers	Stomach Mucosa	stomach
19	chr3:46457600-46458600	Enhancers	Primary T cells from cord blood	blood
20	chr3:46457600-46458600	Enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr3:46457800-46458400	Enhancers	Fetal Muscle Trunk	muscle
22	chr3:46457800-46458400	Enhancers	GM12878-XiMat	blood
23	chr3:46457800-46459200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr3:46458000-46458600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
25	chr3:46458000-46459000	Weak transcription	Spleen	Spleen
26	chr3:46458000-46459400	Enhancers	Skeletal Muscle Male	skeletal muscle
27	chr3:46458000-46459400	Enhancers	Skeletal Muscle Female	skeletal muscle
28	chr3:46458200-46458400	Enhancers	Rectal Mucosa Donor 29	rectum
29	chr3:46458200-46458600	Enhancers	Duodenum Mucosa	Duodenum
30	chr3:46458200-46458600	Enhancers	Psoas Muscle	Psoas
31	chr3:46458200-46463400	Weak transcription	Primary B cells from cord blood	blood

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