Variant report

Variant	rs11992957
Chromosome Location	chr8:131414632-131414633
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:131414614-131414664	Caco-2	colon:	n/a
2	chr8:131414614-131414664	GM19239	blood:	n/a
3	chr8:131414614-131414664	HL-60	blood:	n/a
4	chr8:131414614-131414664	AG04449	skin:	fetal
5	chr8:131414614-131414664	GM12891	blood:	n/a
6	chr8:131414614-131414664	LNCaP	prostate:	n/a
7	chr8:131414614-131414664	HEK293	kidney:	embryo
8	chr8:131414614-131414664	ECC-1	luminal epithelium:	n/a
9	chr8:131414614-131414664	U87	brain:	n/a
10	chr8:131414614-131414664	BE2_C	brain:	n/a
11	chr8:131414614-131414664	HUVEC	blood vessel:	n/a
12	chr8:131414614-131414664	GM12892	blood:	n/a
13	chr8:131414614-131414664	NHBE	bronchial:	n/a
14	chr8:131414614-131414664	MCF10A-Er-Src	breast:	n/a
15	chr8:131414614-131414664	SKMC	muscle:	n/a
16	chr8:131414614-131414664	CMK	blood:	n/a
17	chr8:131414614-131414664	HAEpiC	amniotic membrane:	n/a
18	chr8:131414614-131414664	NHDF-neo	bronchial:	n/a
19	chr8:131414614-131414664	BJ	skin:	n/a
20	chr8:131414614-131414664	GM06990	blood:	n/a
21	chr8:131414614-131414664	NH-A	brain:	n/a
22	chr8:131414614-131414664	SK-N-SH	brain:	n/a
23	chr8:131414614-131414664	K562	blood:	n/a
24	chr8:131414614-131414664	HMEC	breast:	n/a
25	chr8:131414614-131414664	Hepatocyte	liver:	n/a
26	chr8:131414614-131414664	HCM	heart:	n/a
27	chr8:131414614-131414664	GM12878	blood:	n/a
28	chr8:131414614-131414664	HRE	kidney:	n/a
29	chr8:131414614-131414664	HEEpiC	esophagus:	n/a
30	chr8:131414614-131414664	SK-N-SH_RA	brain:	n/a
31	chr8:131414614-131414664	SAEC	small airway:	n/a
32	chr8:131414614-131414664	HRPEpiC	eye:	n/a
33	chr8:131414614-131414664	Hela-S3	cervix:	n/a
34	chr8:131414614-131414664	HepG2	liver:	n/a
35	chr8:131414614-131414664	HPAEpiC	pulmonary alveolar:	n/a
36	chr8:131414614-131414664	HCF	heart:	n/a
37	chr8:131414614-131414664	AG04450	lung:	fetal
38	chr8:131414614-131414664	A549	lung:	n/a
39	chr8:131414614-131414664	HCT-116	colon:	n/a
40	chr8:131414614-131414664	HRCEpiC	kidney:	n/a
41	chr8:131414614-131414664	NB4	blood:	n/a
42	chr8:131414614-131414664	PANC-1	pancreas:	n/a
43	chr8:131414614-131414664	Jurkat	blood:	n/a
44	chr8:131414614-131414664	H1-hESC	embryonic stem cell:	embryo
45	chr8:131414614-131414664	SK-N-MC	brain:	n/a
46	chr8:131414614-131414664	AG09319	gingival:	n/a
47	chr8:131414614-131414664	HIPEpiC	eye:	n/a
48	chr8:131414614-131414664	NT2-D1	testis:	n/a
49	chr8:131414614-131414664	HNPCEpiC	eye:	n/a
50	chr8:131414614-131414664	AG09309	skin:	n/a

No data

Variant related genes	Relation type
ASAP1	CpG island

Extended variants
information (count: 83 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs10086454	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10086773	0.98[ASN][1000 genomes]
rs10087626	0.82[ASN][1000 genomes]
rs1008819	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10090106	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10090231	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10090767	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10099549	0.88[CEU][hapmap];0.89[CHB][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs10099586	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10103132	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10107054	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10111650	0.86[ASN][1000 genomes]
rs10956520	0.82[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs10956522	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10956523	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11784638	0.98[AFR][1000 genomes];0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs11984909	0.84[CEU][hapmap];0.93[YRI][hapmap];0.88[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs11992217	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11992885	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11992932	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11993714	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11993741	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11997462	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12678030	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12678062	0.95[AFR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12678808	0.88[ASN][1000 genomes]
rs12680178	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12680697	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12681664	0.94[ASN][1000 genomes]
rs13249894	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13255178	0.82[CEU][hapmap];0.89[CHB][hapmap];0.90[JPT][hapmap];0.92[ASN][1000 genomes]
rs13260346	0.84[CEU][hapmap];0.89[CHB][hapmap];0.90[JPT][hapmap];0.84[ASN][1000 genomes]
rs13275147	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13276168	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1340020	0.89[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes]
rs16904260	0.82[CEU][hapmap];0.88[CHB][hapmap];0.89[JPT][hapmap];0.84[ASN][1000 genomes]
rs16904267	0.98[AFR][1000 genomes];0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs16904268	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17215817	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17287702	0.82[CEU][hapmap];0.89[CHB][hapmap];0.90[JPT][hapmap];0.84[ASN][1000 genomes]
rs1978551	0.94[CEU][hapmap];0.90[CHB][hapmap];0.90[JPT][hapmap]
rs2791346	0.88[CEU][hapmap]
rs2791349	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs28545757	0.82[ASN][1000 genomes]
rs28559741	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28562521	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28707621	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28716119	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2994298	0.84[CEU][hapmap]
rs34003529	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34019017	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34188408	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34542318	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34676374	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34737610	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34987314	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35123370	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35229803	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35592532	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4504679	0.94[ASN][1000 genomes]
rs4574884	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes]
rs4609234	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs5027392	0.98[ASN][1000 genomes]
rs56677646	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6470819	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6986119	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6986163	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6990443	0.89[CHB][hapmap];0.90[JPT][hapmap];0.84[ASN][1000 genomes]
rs7011509	0.89[CEU][hapmap];0.93[YRI][hapmap];0.88[EUR][1000 genomes]
rs7014098	0.84[CEU][hapmap];0.89[CHB][hapmap];0.90[JPT][hapmap];0.84[ASN][1000 genomes]
rs7016144	0.89[CEU][hapmap];0.93[YRI][hapmap];0.88[EUR][1000 genomes]
rs7812299	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7812469	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7822259	0.94[ASN][1000 genomes]
rs7822957	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7823146	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7828824	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7838650	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7844582	0.82[CEU][hapmap];0.88[CHB][hapmap];0.89[JPT][hapmap]
rs9297807	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[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	nsv869334	chr8:131025093-131651487	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv915580	chr8:131025093-131667578	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv533085	chr8:131042781-131755007	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131371600-131419800	Weak transcription	Aorta	Aorta
2	chr8:131395600-131434200	Weak transcription	Hela-S3	cervix
3	chr8:131398800-131417000	Weak transcription	Esophagus	oesophagus
4	chr8:131399400-131419600	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr8:131401600-131421800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr8:131402600-131418000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr8:131405600-131422800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr8:131405600-131423600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr8:131406800-131417000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr8:131407200-131414800	Strong transcription	A549	lung
11	chr8:131407400-131419600	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr8:131407800-131416800	Weak transcription	HepG2	liver
13	chr8:131407800-131417000	Weak transcription	Lung	lung
14	chr8:131407800-131419400	Weak transcription	Spleen	Spleen
15	chr8:131408000-131422200	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr8:131409000-131416800	Weak transcription	Fetal Kidney	kidney
17	chr8:131409200-131416800	Weak transcription	NH-A	brain
18	chr8:131409200-131422400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr8:131409200-131424000	Weak transcription	Right Ventricle	heart
20	chr8:131409200-131426400	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr8:131409200-131431800	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr8:131409400-131416200	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr8:131409400-131416600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr8:131409400-131421800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr8:131409600-131428400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr8:131409800-131415000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr8:131409800-131417000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr8:131410000-131416600	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr8:131410000-131423200	Weak transcription	Adipose Nuclei	Adipose
30	chr8:131410000-131423200	Weak transcription	Ovary	ovary
31	chr8:131411200-131420400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr8:131411400-131416600	Weak transcription	HMEC	breast
33	chr8:131411400-131418400	Weak transcription	Fetal Lung	lung
34	chr8:131411400-131419400	Weak transcription	Left Ventricle	heart
35	chr8:131411600-131416000	Weak transcription	NHLF	lung
36	chr8:131411600-131416600	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr8:131411800-131416400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr8:131412600-131417600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr8:131413600-131415200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr8:131414000-131414800	Enhancers	HSMMtube	muscle
41	chr8:131414000-131416400	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr8:131414000-131417000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr8:131414000-131417600	Weak transcription	Fetal Muscle Trunk	muscle
44	chr8:131414200-131414800	Enhancers	Fetal Heart	heart
45	chr8:131414200-131414800	Enhancers	HSMM	muscle
46	chr8:131414200-131416200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr8:131414200-131416400	Weak transcription	Fetal Stomach	stomach
48	chr8:131414200-131416400	Weak transcription	Osteobl	bone
49	chr8:131414400-131415000	Enhancers	Fetal Muscle Leg	muscle
50	chr8:131414400-131415000	Enhancers	Psoas Muscle	Psoas

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