Variant report

Variant	rs71518862
Chromosome Location	chr8:103391247-103391248
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:103388045..103393274-chr8:103422464..103425055,4	MCF-7	breast:
2	chr8:103383132..103388008-chr8:103389568..103392720,5	K562	blood:
3	chr8:103383966..103386029-chr8:103390326..103392823,3	MCF-7	breast:
4	chr8:103382240..103386598-chr8:103388176..103391903,4	K562	blood:
5	chr8:103386862..103390311-chr8:103391169..103396549,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000104517	Chromatin interaction

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10505020	0.80[EUR][1000 genomes]
rs10955286	1.00[ASN][1000 genomes]
rs10955287	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11369820	1.00[ASN][1000 genomes]
rs13248603	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13249355	1.00[ASN][1000 genomes]
rs13250998	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13259151	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13261528	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13262662	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13262857	1.00[ASN][1000 genomes]
rs13263132	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13268883	1.00[ASN][1000 genomes]
rs13269311	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13270908	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13271493	1.00[ASN][1000 genomes]
rs13278798	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13278875	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs28927991	0.83[EUR][1000 genomes]
rs28999669	0.82[EUR][1000 genomes]
rs34078231	1.00[ASN][1000 genomes]
rs34270914	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34278087	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34279135	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34297513	0.85[EUR][1000 genomes]
rs34351006	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34356268	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34676997	1.00[ASN][1000 genomes]
rs34730203	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34913297	1.00[ASN][1000 genomes]
rs34976508	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35166521	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35316247	0.86[EUR][1000 genomes]
rs35558370	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs35655607	1.00[ASN][1000 genomes]
rs35873559	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35969173	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35980679	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs36178006	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4483125	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs55804830	1.00[ASN][1000 genomes]
rs56003023	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs59572423	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71506353	1.00[ASN][1000 genomes]
rs71518852	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs71518861	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs71518868	1.00[ASN][1000 genomes]
rs7845877	0.81[EUR][1000 genomes]
rs9650000	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9650001	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9650002	0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033829	chr8:103110057-103525696	Strong transcription Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1021459	chr8:103163436-103401754	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv539701	chr8:103163436-103401754	Strong transcription Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	nsv1025935	chr8:103199207-103468322	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	nsv1028890	chr8:103207922-103401754	Weak transcription Genic enhancers Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
6	nsv891244	chr8:103309862-103483466	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
7	nsv831412	chr8:103337196-103536397	Genic enhancers Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
8	esv33118	chr8:103358567-104068172	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
9	nsv1023938	chr8:103369215-103538708	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103369800-103421000	Weak transcription	Colonic Mucosa	Colon
2	chr8:103371600-103394400	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr8:103372400-103394200	Weak transcription	Thymus	Thymus
4	chr8:103372400-103395200	Weak transcription	Fetal Brain Female	brain
5	chr8:103372400-103412600	Weak transcription	Fetal Intestine Large	intestine
6	chr8:103372600-103393000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr8:103372600-103393200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr8:103372800-103394200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr8:103372800-103394400	Weak transcription	Brain Germinal Matrix	brain
10	chr8:103372800-103403800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr8:103372800-103410200	Weak transcription	Fetal Kidney	kidney
12	chr8:103373000-103394400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr8:103373000-103395000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr8:103373000-103395400	Weak transcription	Fetal Muscle Leg	muscle
15	chr8:103373000-103402400	Weak transcription	Fetal Muscle Trunk	muscle
16	chr8:103373200-103401400	Weak transcription	Hela-S3	cervix
17	chr8:103373400-103394200	Weak transcription	Primary T cells from cord blood	blood
18	chr8:103373400-103394200	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr8:103373600-103394600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr8:103380200-103393200	Weak transcription	Primary T cells fromperipheralblood	blood
21	chr8:103380200-103397800	Weak transcription	Duodenum Mucosa	Duodenum
22	chr8:103381000-103393400	Weak transcription	Pancreas	Pancrea
23	chr8:103381000-103393400	Weak transcription	Right Atrium	heart
24	chr8:103381000-103393600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr8:103381000-103394400	Weak transcription	A549	lung
26	chr8:103381000-103394600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr8:103381000-103395200	Weak transcription	Primary hematopoietic stem cells	blood
28	chr8:103381000-103395200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr8:103381000-103395200	Weak transcription	Fetal Thymus	thymus
30	chr8:103381000-103395400	Weak transcription	Fetal Stomach	stomach
31	chr8:103381000-103396000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr8:103381000-103398400	Weak transcription	Fetal Intestine Small	intestine
33	chr8:103381600-103393600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr8:103382400-103394400	Weak transcription	Aorta	Aorta
35	chr8:103384200-103411600	Weak transcription	Lung	lung
36	chr8:103384200-103416800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr8:103384400-103394400	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr8:103386200-103393000	Weak transcription	NHEK	skin
39	chr8:103387000-103402800	Weak transcription	Dnd41	blood
40	chr8:103388200-103395200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr8:103388200-103407200	Weak transcription	Right Ventricle	heart
42	chr8:103388400-103393000	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr8:103388400-103393200	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr8:103388400-103393200	Weak transcription	Left Ventricle	heart
45	chr8:103388400-103393400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr8:103388400-103393400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr8:103388400-103393400	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr8:103388400-103393600	Weak transcription	HMEC	breast
49	chr8:103388400-103394200	Weak transcription	Fetal Lung	lung
50	chr8:103388400-103394400	Weak transcription	Muscle Satellite Cultured Cells	--

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