Variant report

Variant	rs11988169
Chromosome Location	chr8:61478769-61478770
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:61471508..61475092-chr8:61475799..61479657,3	K562	blood:
2	chr8:61427866..61430946-chr8:61475959..61479177,3	MCF-7	breast:
3	chr8:61427882..61431077-chr8:61476306..61480801,4	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CA8-11	chr8:61478325-61480362	ucscGeneNc_uc003xuc_1

Variant related genes	Relation type
ENSG00000104388	Chromatin interaction
ENSG00000251396	Chromatin interaction

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs10504313	0.96[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11984591	1.00[ASN][1000 genomes]
rs11984682	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11985737	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11987024	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11988323	0.96[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11988389	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11991778	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11996337	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11997369	0.85[ASN][1000 genomes]
rs16926228	0.85[ASN][1000 genomes]
rs16926248	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16926250	0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs16926256	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16926277	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16926304	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16926305	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16926308	1.00[ASN][1000 genomes]
rs16926311	1.00[ASN][1000 genomes]
rs16926338	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2326572	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2930038	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2930041	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2946149	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2946150	1.00[ASN][1000 genomes]
rs2981283	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60075768	0.87[ASN][1000 genomes]
rs60440859	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs60504642	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs61174790	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61291329	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6471887	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6987831	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7000882	0.96[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7001063	0.96[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7005259	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7016173	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73243810	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73257409	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73257414	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73257427	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73257433	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73257434	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73257435	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73257440	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73257481	0.96[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73257484	0.95[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73257486	0.96[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73257487	0.96[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73257495	0.96[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs73257499	0.96[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73259425	0.96[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73259430	0.96[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73259438	0.96[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73259453	0.96[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73259488	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73259499	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73261204	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73261219	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73261234	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73261269	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7341555	0.98[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7341633	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7815886	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7816273	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7825285	0.96[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7827528	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7834982	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7839008	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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	nsv917756	chr8:60942299-61862796	Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS 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	74 gene(s)	inside rSNPs	diseases
2	nsv530383	chr8:61431756-61605551	Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	esv3384611	chr8:61461615-61480346	Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61434800-61480600	Weak transcription	HMEC	breast
2	chr8:61438000-61488600	Weak transcription	Fetal Brain Female	brain
3	chr8:61439400-61494600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr8:61440800-61480000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr8:61448600-61505400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr8:61451400-61482200	Weak transcription	Right Ventricle	heart
7	chr8:61458200-61480600	Weak transcription	Gastric	stomach
8	chr8:61458200-61497000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr8:61459400-61495800	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr8:61463600-61482200	Weak transcription	Esophagus	oesophagus
11	chr8:61466400-61516800	Weak transcription	Stomach Mucosa	stomach
12	chr8:61467200-61515400	Weak transcription	Fetal Brain Male	brain
13	chr8:61468000-61482200	Weak transcription	Aorta	Aorta
14	chr8:61468800-61488600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr8:61469000-61495000	Weak transcription	Brain Germinal Matrix	brain
16	chr8:61469400-61488600	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr8:61472000-61488800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr8:61472400-61479200	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr8:61473000-61480600	Weak transcription	Pancreas	Pancrea
20	chr8:61473200-61489200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr8:61473600-61480600	Weak transcription	NHEK	skin
22	chr8:61473600-61493800	Weak transcription	Rectal Smooth Muscle	rectum
23	chr8:61473600-61495000	Weak transcription	Spleen	Spleen
24	chr8:61473600-61497800	Weak transcription	Lung	lung
25	chr8:61474000-61480600	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr8:61474200-61482000	Weak transcription	Fetal Stomach	stomach
27	chr8:61474200-61482200	Weak transcription	HUVEC	blood vessel
28	chr8:61474200-61482400	Weak transcription	Fetal Intestine Large	intestine
29	chr8:61474200-61485600	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr8:61474200-61504000	Weak transcription	Colon Smooth Muscle	Colon
31	chr8:61474400-61480600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr8:61474400-61486600	Weak transcription	Stomach Smooth Muscle	stomach
33	chr8:61474600-61480600	Weak transcription	Left Ventricle	heart
34	chr8:61474600-61496200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr8:61474600-61496400	Weak transcription	Thymus	Thymus
36	chr8:61474800-61480600	Weak transcription	Right Atrium	heart
37	chr8:61474800-61482000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr8:61474800-61482200	Weak transcription	Fetal Muscle Leg	muscle
39	chr8:61474800-61483200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr8:61474800-61485600	Weak transcription	Small Intestine	intestine
41	chr8:61474800-61496000	Weak transcription	Brain Cingulate Gyrus	brain
42	chr8:61474800-61504000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
43	chr8:61475000-61481200	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr8:61475000-61481400	Weak transcription	Fetal Thymus	thymus
45	chr8:61475000-61482400	Weak transcription	HSMMtube	muscle
46	chr8:61475000-61493600	Weak transcription	Fetal Kidney	kidney
47	chr8:61475000-61495600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr8:61475400-61494600	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr8:61475400-61498200	Weak transcription	A549	lung
50	chr8:61475600-61482400	Weak transcription	Primary neutrophils fromperipheralblood	blood

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