Variant report

Variant	rs72713042
Chromosome Location	chr8:125478893-125478894
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:125473161..125475978-chr8:125476087..125479372,4	K562	blood:
2	chr8:125463054..125465256-chr8:125476799..125479524,2	K562	blood:
3	chr8:125470564..125475978-chr8:125476516..125479372,6	K562	blood:
4	chr8:125475979..125479688-chr8:125483655..125487950,7	K562	blood:
5	chr8:125461213..125466499-chr8:125476927..125481847,6	K562	blood:
6	chr8:125477278..125479238-chr8:125506832..125508856,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TATDN1-1	chr8:125474740-125479899	XLOC_007206
2	lnc-TATDN1-1	chr8:125474726-125479899	ENSG00000245149
3	lnc-TATDN1-1	chr8:125474738-125479899	NR_108047

No data

Variant related genes	Relation type
ENSG00000183665	Chromatin interaction
ENSG00000170881	Chromatin interaction
ENSG00000245149	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10195	0.89[EUR][1000 genomes]
rs10956186	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13253319	0.91[ASN][1000 genomes]
rs16899643	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16899656	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16899660	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17298171	0.86[EUR][1000 genomes]
rs3812470	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3812473	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3829033	0.89[EUR][1000 genomes]
rs4330675	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4527852	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4613980	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4621790	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57929284	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6981043	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6989097	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6997089	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7017148	0.94[ASN][1000 genomes]
rs71516748	0.91[ASN][1000 genomes]
rs72713019	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72713023	0.85[EUR][1000 genomes]
rs72713032	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72713045	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72713053	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72713055	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72713059	0.86[EUR][1000 genomes]
rs72713071	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72713073	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72713075	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72713077	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72713084	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72713096	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72713098	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72714708	0.89[EUR][1000 genomes]
rs73704274	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9643197	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2762769	chr8:125167256-125480574	Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv1034768	chr8:125323011-125481733	Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv531508	chr8:125390194-125587953	Flanking Active TSS Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
4	nsv891430	chr8:125431030-125485027	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv1017848	chr8:125432689-125489052	Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	60 gene(s)	inside rSNPs	diseases
6	nsv891431	chr8:125437811-125485027	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	nsv891432	chr8:125438093-125485027	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
8	nsv891433	chr8:125438093-125498547	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	61 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125463800-125483800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr8:125464000-125484800	Weak transcription	Aorta	Aorta
3	chr8:125464000-125485000	Weak transcription	Fetal Kidney	kidney
4	chr8:125464400-125479600	Weak transcription	Fetal Intestine Large	intestine
5	chr8:125464600-125483200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr8:125464600-125484600	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr8:125464600-125485200	Weak transcription	Colonic Mucosa	Colon
8	chr8:125464600-125485800	Weak transcription	Esophagus	oesophagus
9	chr8:125464600-125486000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr8:125464800-125484600	Weak transcription	Rectal Smooth Muscle	rectum
11	chr8:125464800-125484800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr8:125464800-125485400	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr8:125465000-125479000	Weak transcription	HUVEC	blood vessel
14	chr8:125465000-125484400	Weak transcription	NHLF	lung
15	chr8:125465000-125485400	Weak transcription	Gastric	stomach
16	chr8:125465200-125483000	Weak transcription	Fetal Brain Male	brain
17	chr8:125465200-125483200	Weak transcription	Fetal Lung	lung
18	chr8:125465600-125482800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr8:125465600-125484200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr8:125465600-125484600	Weak transcription	HMEC	breast
21	chr8:125465600-125485200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr8:125466000-125485400	Weak transcription	Lung	lung
23	chr8:125466200-125484600	Weak transcription	Right Ventricle	heart
24	chr8:125466400-125482800	Weak transcription	NHDF-Ad	bronchial
25	chr8:125466400-125483000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr8:125466400-125483000	Weak transcription	Brain Anterior Caudate	brain
27	chr8:125466400-125483200	Weak transcription	Spleen	Spleen
28	chr8:125466400-125484000	Weak transcription	Ovary	ovary
29	chr8:125466400-125484600	Weak transcription	A549	lung
30	chr8:125466400-125484800	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr8:125466400-125484800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr8:125466600-125484000	Weak transcription	Fetal Muscle Leg	muscle
33	chr8:125466800-125482800	Weak transcription	Colon Smooth Muscle	Colon
34	chr8:125467200-125484400	Weak transcription	Thymus	Thymus
35	chr8:125467200-125484600	Weak transcription	Brain Angular Gyrus	brain
36	chr8:125467200-125484600	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr8:125467200-125485400	Weak transcription	Left Ventricle	heart
38	chr8:125468000-125483000	Weak transcription	Hela-S3	cervix
39	chr8:125468200-125482800	Weak transcription	Primary T helper cells fromperipheralblood	blood
40	chr8:125468400-125483800	Weak transcription	NHEK	skin
41	chr8:125468400-125485200	Weak transcription	Brain Substantia Nigra	brain
42	chr8:125469000-125479200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr8:125469000-125482800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
44	chr8:125469200-125482800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr8:125469800-125484000	Weak transcription	Placenta	Placenta
46	chr8:125472400-125482800	Weak transcription	GM12878-XiMat	blood
47	chr8:125473400-125485200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr8:125473600-125484000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr8:125474400-125479600	Strong transcription	Fetal Brain Female	brain
50	chr8:125474400-125479800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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