Variant report

Variant	rs72681171
Chromosome Location	chr8:103299879-103299880
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:103292030..103294873-chr8:103298040..103300852,2	MCF-7	breast:
2	chr8:103299064..103302464-chr8:103303139..103305515,3	MCF-7	breast:
3	chr8:103255240..103257395-chr8:103298115..103300069,2	MCF-7	breast:
4	chr8:103298397..103300610-chr8:103306655..103309037,2	MCF-7	breast:
5	chr8:103298686..103300294-chr8:103304892..103306650,2	K562	blood:

Variant related genes	Relation type
ENSG00000246263	Chromatin interaction
ENSG00000104517	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10505022	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10505025	0.92[EUR][1000 genomes]
rs10505027	0.90[EUR][1000 genomes]
rs10955285	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs16869398	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17434675	0.92[EUR][1000 genomes]
rs17511370	0.88[EUR][1000 genomes]
rs17512186	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17512800	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35297255	0.85[EUR][1000 genomes]
rs4489304	0.82[EUR][1000 genomes]
rs56096838	0.92[EUR][1000 genomes]
rs56111669	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs56152628	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62523061	0.87[AFR][1000 genomes]
rs72554091	0.86[ASN][1000 genomes]
rs72681179	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72681183	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72681190	0.85[EUR][1000 genomes]
rs72681191	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72681196	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72681200	0.80[AMR][1000 genomes];0.85[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	nsv1020359	chr8:103109921-103318415	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	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
6	nsv1018990	chr8:103207922-103357742	Genic enhancers Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
7	nsv539702	chr8:103207922-103357742	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
8	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
9	nsv528486	chr8:103279922-103373304	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103252200-103318800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr8:103262600-103329800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr8:103263400-103327800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr8:103263400-103327800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr8:103266800-103329000	Strong transcription	HUES6 Cell Line	embryonic stem cell
6	chr8:103267400-103327800	Strong transcription	HUES48 Cell Line	embryonic stem cell
7	chr8:103267400-103329000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
8	chr8:103267600-103327800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
9	chr8:103268000-103327200	Strong transcription	H1 Cell Line	embryonic stem cell
10	chr8:103268200-103327600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr8:103268200-103328000	Strong transcription	HUES64 Cell Line	embryonic stem cell
12	chr8:103268800-103308400	Strong transcription	Fetal Muscle Leg	muscle
13	chr8:103286200-103300000	Strong transcription	HepG2	liver
14	chr8:103286600-103302000	Strong transcription	Primary neutrophils fromperipheralblood	blood
15	chr8:103287800-103302200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr8:103287800-103312800	Strong transcription	Cortex derived primary cultured neurospheres	brain
17	chr8:103293800-103329200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr8:103295800-103301800	Strong transcription	Fetal Muscle Trunk	muscle
19	chr8:103296000-103312600	Strong transcription	Muscle Satellite Cultured Cells	--
20	chr8:103296200-103301000	Strong transcription	Fetal Brain Female	brain
21	chr8:103296400-103300400	Strong transcription	HMEC	breast
22	chr8:103296600-103302000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
23	chr8:103296600-103303800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr8:103296600-103327000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr8:103296800-103300600	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr8:103296800-103300600	Strong transcription	NH-A	brain
27	chr8:103296800-103300800	Strong transcription	Gastric	stomach
28	chr8:103296800-103301800	Strong transcription	Fetal Stomach	stomach
29	chr8:103296800-103301800	Strong transcription	Sigmoid Colon	Sigmoid Colon
30	chr8:103296800-103304200	Strong transcription	ES-I3 Cell Line	embryonic stem cell
31	chr8:103296800-103311400	Strong transcription	HUVEC	blood vessel
32	chr8:103297000-103301800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr8:103297000-103301800	Strong transcription	Placenta Amnion	Placenta Amnion
34	chr8:103297000-103302200	Strong transcription	Left Ventricle	heart
35	chr8:103297000-103304000	Strong transcription	Brain Germinal Matrix	brain
36	chr8:103297000-103312600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr8:103297000-103315400	Strong transcription	H9 Cell Line	embryonic stem cell
38	chr8:103297200-103300000	Strong transcription	Brain Substantia Nigra	brain
39	chr8:103297200-103300600	Strong transcription	Fetal Brain Male	brain
40	chr8:103297200-103300800	Strong transcription	Pancreas	Pancrea
41	chr8:103297400-103300400	Strong transcription	Fetal Lung	lung
42	chr8:103297400-103300600	Strong transcription	NHEK	skin
43	chr8:103297400-103302400	Strong transcription	A549	lung
44	chr8:103298200-103301000	Strong transcription	Psoas Muscle	Psoas
45	chr8:103298400-103300000	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
46	chr8:103298800-103300000	Genic enhancers	Osteobl	bone
47	chr8:103298800-103303000	Weak transcription	Small Intestine	intestine
48	chr8:103298800-103303000	Strong transcription	Hela-S3	cervix
49	chr8:103298800-103305800	Weak transcription	Esophagus	oesophagus
50	chr8:103298800-103307200	Weak transcription	Spleen	Spleen

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