Variant report

Variant	rs71516769
Chromosome Location	chr8:126230876-126230877
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:126230421..126233319-chr8:126238553..126242125,3	MCF-7	breast:
2	chr8:126229542..126240931-chr8:126439455..126445268,19	MCF-7	breast:
3	chr8:126229898..126232632-chr8:126442364..126444090,4	MCF-7	breast:
4	chr8:126225448..126228099-chr8:126228742..126231681,2	K562	blood:

Variant related genes	Relation type
ENSG00000173334	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs13253942	0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13254947	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13259062	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13262348	0.92[ASN][1000 genomes]
rs13264500	0.88[EUR][1000 genomes]
rs13267325	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13273034	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13273231	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13273421	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13277490	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16900452	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17310558	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17401283	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2384882	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34110249	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34246020	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34298715	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34427316	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34448805	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34461511	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34694976	0.92[ASN][1000 genomes]
rs34737949	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34903473	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35033076	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35140299	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35215140	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35336507	0.81[EUR][1000 genomes]
rs35401436	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35475899	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35564243	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35774093	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35822368	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35861494	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35955519	0.81[EUR][1000 genomes]
rs35991395	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs36081564	0.97[ASN][1000 genomes]
rs3923300	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4360308	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4477044	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4601329	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4871570	0.92[ASN][1000 genomes]
rs56135036	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs66561774	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs66826725	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs66929016	0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs71516763	0.89[ASN][1000 genomes]
rs72720550	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72720569	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891434	chr8:125630655-126324432	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv949614	chr8:126063646-126376699	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	nsv917158	chr8:126101990-126255266	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases
4	nsv1034798	chr8:126179383-126241525	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:126142600-126231400	Weak transcription	Stomach Smooth Muscle	stomach
2	chr8:126201600-126231200	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr8:126201600-126231600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr8:126201600-126236600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr8:126202200-126232200	Weak transcription	Primary B cells from cord blood	blood
6	chr8:126202600-126237400	Weak transcription	Fetal Thymus	thymus
7	chr8:126202800-126231600	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr8:126203200-126231400	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr8:126203800-126231000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr8:126204200-126231000	Weak transcription	Brain Angular Gyrus	brain
11	chr8:126204200-126231200	Weak transcription	Brain Hippocampus Middle	brain
12	chr8:126204400-126238600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr8:126204400-126239600	Weak transcription	Primary T cells from cord blood	blood
14	chr8:126205200-126231200	Weak transcription	Primary hematopoietic stem cells	blood
15	chr8:126214400-126237400	Weak transcription	Thymus	Thymus
16	chr8:126214400-126238600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr8:126214600-126231200	Weak transcription	Fetal Lung	lung
18	chr8:126214600-126231400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr8:126217400-126238600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr8:126218000-126231600	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr8:126220200-126231400	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr8:126220400-126231000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr8:126220400-126231200	Weak transcription	Brain Cingulate Gyrus	brain
24	chr8:126222800-126231200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr8:126226600-126231000	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr8:126226600-126231000	Weak transcription	Fetal Kidney	kidney
27	chr8:126226600-126231200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr8:126226600-126231200	Weak transcription	Colon Smooth Muscle	Colon
29	chr8:126226600-126235000	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr8:126226800-126231000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr8:126226800-126231000	Weak transcription	Adipose Nuclei	Adipose
32	chr8:126226800-126231000	Weak transcription	Duodenum Mucosa	Duodenum
33	chr8:126226800-126231000	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr8:126226800-126231000	Weak transcription	HSMMtube	muscle
35	chr8:126226800-126231200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr8:126226800-126231200	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr8:126226800-126231200	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr8:126226800-126231200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr8:126226800-126231200	Weak transcription	K562	blood
40	chr8:126226800-126231400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr8:126226800-126231400	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr8:126226800-126231400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr8:126226800-126231400	Weak transcription	Fetal Stomach	stomach
44	chr8:126226800-126231400	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr8:126226800-126231600	Weak transcription	Small Intestine	intestine
46	chr8:126226800-126232000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr8:126226800-126232000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr8:126226800-126232000	Weak transcription	Aorta	Aorta
49	chr8:126226800-126232200	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr8:126226800-126233400	Weak transcription	Esophagus	oesophagus

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