Variant report

Variant	rs6486315
Chromosome Location	chr11:16872642-16872643
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:16869700..16872673-chr11:16876398..16878604,2	K562	blood:
2	chr11:16868421..16871195-chr11:16872286..16874051,3	MCF-7	breast:

Extended variants
information (count: 49 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11024078	1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs11024091	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs11024092	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs12275536	1.00[EUR][1000 genomes]
rs12276960	1.00[EUR][1000 genomes]
rs12278736	1.00[EUR][1000 genomes]
rs12278828	1.00[EUR][1000 genomes]
rs12280548	1.00[EUR][1000 genomes]
rs12292955	1.00[EUR][1000 genomes]
rs16933508	0.92[ASW][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs16933515	0.89[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16933529	0.84[ASW][hapmap];1.00[GIH][hapmap];0.81[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16933548	1.00[ASW][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16933592	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16933661	1.00[EUR][1000 genomes]
rs2190751	1.00[EUR][1000 genomes]
rs4757471	1.00[MEX][hapmap]
rs56721354	0.80[AFR][1000 genomes]
rs56918856	1.00[EUR][1000 genomes]
rs57289260	1.00[EUR][1000 genomes]
rs57818898	1.00[EUR][1000 genomes]
rs58540437	1.00[EUR][1000 genomes]
rs60553604	1.00[EUR][1000 genomes]
rs60977991	1.00[EUR][1000 genomes]
rs61129651	1.00[EUR][1000 genomes]
rs61217675	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs61475718	1.00[EUR][1000 genomes]
rs6486314	0.92[ASW][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap];0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6486316	1.00[EUR][1000 genomes]
rs7102075	1.00[EUR][1000 genomes]
rs7102357	1.00[EUR][1000 genomes]
rs7103382	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7117859	1.00[EUR][1000 genomes]
rs7119994	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7122601	0.95[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7129494	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73423200	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73425209	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73425215	1.00[EUR][1000 genomes]
rs73425221	1.00[EUR][1000 genomes]
rs73425302	1.00[EUR][1000 genomes]
rs73427252	1.00[EUR][1000 genomes]
rs73427255	1.00[EUR][1000 genomes]
rs73427263	1.00[EUR][1000 genomes]
rs7927866	1.00[EUR][1000 genomes]
rs7935333	1.00[EUR][1000 genomes]
rs7944088	1.00[EUR][1000 genomes]
rs7946609	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832077	chr11:16834545-17059176	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:16839200-16878800	Weak transcription	Thymus	Thymus
2	chr11:16842600-16873400	Weak transcription	Hela-S3	cervix
3	chr11:16843000-16874600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr11:16846600-16874000	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr11:16848200-16875200	Weak transcription	Right Ventricle	heart
6	chr11:16848400-16878600	Weak transcription	Small Intestine	intestine
7	chr11:16853400-16883800	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr11:16855200-16873000	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr11:16855200-16877600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr11:16855200-16878800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr11:16858000-16876800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr11:16858200-16878800	Weak transcription	Brain Cingulate Gyrus	brain
13	chr11:16858400-16876400	Weak transcription	Brain Germinal Matrix	brain
14	chr11:16861200-16879800	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr11:16861800-16877000	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr11:16861800-16880600	Weak transcription	HMEC	breast
17	chr11:16862200-16875200	Genic enhancers	Fetal Heart	heart
18	chr11:16862200-16876800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
19	chr11:16863400-16875600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr11:16863400-16875600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr11:16863400-16882000	Weak transcription	Stomach Mucosa	stomach
22	chr11:16863800-16875800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr11:16863800-16884800	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr11:16863800-16892600	Weak transcription	Fetal Kidney	kidney
25	chr11:16864000-16878800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr11:16864200-16882000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr11:16866800-16879000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr11:16867600-16879200	Strong transcription	Liver	Liver
29	chr11:16867800-16885000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr11:16868600-16873600	Strong transcription	Fetal Intestine Small	intestine
31	chr11:16869200-16876200	Weak transcription	HSMMtube	muscle
32	chr11:16869600-16876200	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr11:16869800-16875600	Weak transcription	Spleen	Spleen
34	chr11:16870000-16874000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr11:16870400-16878000	Strong transcription	Fetal Intestine Large	intestine
36	chr11:16870800-16873000	Strong transcription	Placenta Amnion	Placenta Amnion
37	chr11:16870800-16879000	Strong transcription	HepG2	liver
38	chr11:16871000-16874000	Strong transcription	Ovary	ovary
39	chr11:16871200-16874000	Strong transcription	Esophagus	oesophagus
40	chr11:16871200-16878000	Strong transcription	Rectal Mucosa Donor 31	rectum
41	chr11:16871400-16873000	Strong transcription	Fetal Stomach	stomach
42	chr11:16871400-16873400	Strong transcription	Pancreas	Pancrea
43	chr11:16871400-16873800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr11:16871400-16874000	Strong transcription	Gastric	stomach
45	chr11:16871400-16878800	Strong transcription	Rectal Mucosa Donor 29	rectum
46	chr11:16871400-16879000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr11:16871400-16879000	Strong transcription	Duodenum Mucosa	Duodenum
48	chr11:16871600-16872800	Strong transcription	Placenta	Placenta
49	chr11:16871600-16875000	Weak transcription	Left Ventricle	heart
50	chr11:16871600-16875000	Weak transcription	Right Atrium	heart

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