Variant report

Variant	rs11150385
Chromosome Location	chr16:81357425-81357426
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:81355446..81358020-chr16:81366179..81367886,2	K562	blood:
2	chr16:81302492..81305396-chr16:81357218..81358966,2	MCF-7	breast:
3	chr16:81307371..81310396-chr16:81356696..81360378,4	MCF-7	breast:
4	chr16:81357398..81359804-chr16:81378365..81379960,2	MCF-7	breast:
5	chr16:81040427..81042775-chr16:81356563..81358580,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000166451	Chromatin interaction
ENSG00000103121	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs11643220	1.00[MEX][hapmap]
rs11862778	1.00[MEX][hapmap]
rs11866374	1.00[MEX][hapmap]
rs12149852	1.00[CEU][hapmap]
rs12924233	1.00[CEU][hapmap]
rs16955031	1.00[MEX][hapmap]
rs16955059	1.00[MEX][hapmap]
rs16955067	1.00[MEX][hapmap]
rs16955109	1.00[MEX][hapmap]
rs16955113	1.00[MEX][hapmap]
rs2059281	1.00[CEU][hapmap];0.90[JPT][hapmap];0.92[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3809632	1.00[CEU][hapmap]
rs4598907	1.00[CEU][hapmap]
rs4888135	1.00[CEU][hapmap]
rs4888138	1.00[CEU][hapmap];0.90[JPT][hapmap];0.92[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4889304	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6564866	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6564868	1.00[CEU][hapmap]
rs7184259	1.00[CEU][hapmap]
rs7196075	1.00[CEU][hapmap]
rs7196278	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7200201	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7200204	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7203686	1.00[CEU][hapmap];0.87[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7499639	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9925624	0.89[CHB][hapmap];0.90[JPT][hapmap];0.93[YRI][hapmap];0.81[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs9934395	1.00[CEU][hapmap];0.88[JPT][hapmap];0.91[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9935105	1.00[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532569	chr16:80980356-81700149	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv532597	chr16:81009718-81388348	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
3	nsv1058519	chr16:81177767-81735333	Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
4	nsv948448	chr16:81198147-81906766	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	37 gene(s)	inside rSNPs	diseases
5	nsv1061359	chr16:81349826-81471867	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
6	nsv542992	chr16:81349826-81471867	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81349800-81357800	Weak transcription	Lung	lung
2	chr16:81349800-81358000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr16:81349800-81358400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr16:81349800-81358400	Weak transcription	Ovary	ovary
5	chr16:81349800-81365800	Weak transcription	Aorta	Aorta
6	chr16:81350000-81358000	Weak transcription	Fetal Intestine Small	intestine
7	chr16:81350000-81358200	Weak transcription	Primary T cells from cord blood	blood
8	chr16:81350000-81358400	Weak transcription	Brain Cingulate Gyrus	brain
9	chr16:81350000-81361400	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr16:81350000-81361600	Weak transcription	Primary B cells from peripheral blood	blood
11	chr16:81350000-81364800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr16:81350000-81365800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr16:81350000-81371200	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr16:81350000-81372000	Weak transcription	Primary B cells from cord blood	blood
15	chr16:81350000-81373200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr16:81350000-81375000	Weak transcription	Fetal Intestine Large	intestine
17	chr16:81350200-81358400	Weak transcription	Right Atrium	heart
18	chr16:81350400-81357800	Weak transcription	Brain Hippocampus Middle	brain
19	chr16:81350400-81357800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr16:81350400-81358400	Weak transcription	Spleen	Spleen
21	chr16:81350400-81367600	Weak transcription	Duodenum Mucosa	Duodenum
22	chr16:81350400-81370400	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr16:81350400-81373200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr16:81350600-81358000	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr16:81350600-81363000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr16:81350600-81367600	Weak transcription	Primary T cells fromperipheralblood	blood
27	chr16:81350600-81372800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr16:81350800-81365800	Weak transcription	Fetal Brain Male	brain
29	chr16:81351000-81357800	Weak transcription	Brain Anterior Caudate	brain
30	chr16:81351000-81358000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr16:81351200-81357800	Weak transcription	Brain Angular Gyrus	brain
32	chr16:81351200-81359400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr16:81351200-81369800	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr16:81351400-81368800	Weak transcription	Dnd41	blood
35	chr16:81351400-81371200	Weak transcription	Primary T helper cells PMA-I stimulated	--
36	chr16:81352200-81358000	Weak transcription	Brain Substantia Nigra	brain
37	chr16:81352600-81362800	Weak transcription	Gastric	stomach
38	chr16:81352800-81357800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr16:81352800-81357800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr16:81352800-81357800	Weak transcription	Esophagus	oesophagus
41	chr16:81352800-81366000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr16:81352800-81367400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr16:81353200-81357800	Weak transcription	Left Ventricle	heart
44	chr16:81353200-81357800	Weak transcription	Right Ventricle	heart
45	chr16:81353200-81367800	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr16:81353400-81358000	Weak transcription	HepG2	liver
47	chr16:81353400-81373200	Weak transcription	HUVEC	blood vessel
48	chr16:81353400-81390400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr16:81353600-81357800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr16:81353600-81366200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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