Variant report

Variant	rs2911441
Chromosome Location	chr16:81395453-81395454
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:81390538..81392781-chr16:81395034..81396692,2	K562	blood:
2	chr16:81346954..81352914-chr16:81389410..81396228,9	MCF-7	breast:
3	chr16:81392614..81395865-chr16:81398430..81401321,3	K562	blood:

Variant related genes	Relation type
ENSG00000261609	Chromatin interaction
ENSG00000260495	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs1035573	0.86[EUR][1000 genomes]
rs11647874	0.83[CEU][hapmap];0.89[EUR][1000 genomes]
rs12448327	0.94[CEU][hapmap];0.99[EUR][1000 genomes]
rs12925347	0.81[EUR][1000 genomes]
rs12925975	0.86[EUR][1000 genomes]
rs17188615	0.83[CEU][hapmap];0.82[EUR][1000 genomes]
rs1862843	0.89[CEU][hapmap];0.91[EUR][1000 genomes]
rs1895539	0.83[CEU][hapmap];0.90[EUR][1000 genomes]
rs1946285	0.84[CEU][hapmap];0.89[EUR][1000 genomes]
rs1946287	0.89[EUR][1000 genomes]
rs1981884	0.83[CEU][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes]
rs2216771	0.84[CEU][hapmap];0.84[EUR][1000 genomes]
rs2317127	0.86[EUR][1000 genomes]
rs2550738	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2608554	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2615701	0.82[JPT][hapmap];0.86[ASN][1000 genomes]
rs310032	0.89[CEU][hapmap]
rs310034	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs310035	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4888143	0.85[YRI][hapmap]
rs4889299	0.80[CEU][hapmap]
rs4889307	0.83[CEU][hapmap]
rs4889308	0.89[EUR][1000 genomes]
rs6564871	0.89[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6564873	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs7191409	0.83[CEU][hapmap];0.86[EUR][1000 genomes]
rs9673346	0.82[EUR][1000 genomes]
rs9673795	0.87[EUR][1000 genomes]
rs9923254	0.81[ASN][1000 genomes]
rs9935709	1.00[JPT][hapmap];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	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
3	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
4	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
5	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:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81379400-81410600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr16:81380600-81396200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr16:81381200-81396000	Weak transcription	Right Ventricle	heart
4	chr16:81382400-81396200	Weak transcription	Pancreas	Pancrea
5	chr16:81382400-81418400	Weak transcription	Small Intestine	intestine
6	chr16:81382600-81396000	Weak transcription	Primary B cells from peripheral blood	blood
7	chr16:81382600-81398600	Weak transcription	Fetal Thymus	thymus
8	chr16:81383000-81395800	Weak transcription	Brain Germinal Matrix	brain
9	chr16:81383000-81396200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr16:81383200-81396000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr16:81383400-81395800	Weak transcription	Colonic Mucosa	Colon
12	chr16:81383400-81398000	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr16:81383600-81398600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr16:81383800-81396200	Weak transcription	Spleen	Spleen
15	chr16:81384000-81395600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr16:81384000-81398400	Weak transcription	NH-A	brain
17	chr16:81384000-81404800	Weak transcription	Stomach Mucosa	stomach
18	chr16:81384000-81410600	Weak transcription	Fetal Kidney	kidney
19	chr16:81384200-81434600	Weak transcription	NHLF	lung
20	chr16:81384200-81437400	Weak transcription	Fetal Brain Male	brain
21	chr16:81385000-81406200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr16:81385400-81410800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr16:81385600-81418200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr16:81385800-81396000	Weak transcription	Brain Hippocampus Middle	brain
25	chr16:81385800-81399800	Strong transcription	Primary T cells from cord blood	blood
26	chr16:81386200-81396000	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr16:81386400-81424200	Weak transcription	Psoas Muscle	Psoas
28	chr16:81387000-81428600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr16:81387200-81407000	Strong transcription	Duodenum Mucosa	Duodenum
30	chr16:81387200-81408200	Strong transcription	HUES64 Cell Line	embryonic stem cell
31	chr16:81387400-81400200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr16:81387600-81405800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr16:81387600-81415200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr16:81388000-81397200	Weak transcription	Brain Anterior Caudate	brain
35	chr16:81388000-81400200	Strong transcription	HUES6 Cell Line	embryonic stem cell
36	chr16:81388000-81407600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr16:81388600-81396000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr16:81388800-81410200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr16:81389000-81395800	Weak transcription	Aorta	Aorta
40	chr16:81390000-81396200	Weak transcription	Brain Cingulate Gyrus	brain
41	chr16:81390200-81407200	Strong transcription	HUES48 Cell Line	embryonic stem cell
42	chr16:81390400-81395800	Weak transcription	Primary neutrophils fromperipheralblood	blood
43	chr16:81390600-81395600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr16:81390600-81396400	Weak transcription	Gastric	stomach
45	chr16:81390600-81405200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
46	chr16:81390600-81407800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
47	chr16:81391200-81417600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
48	chr16:81391600-81396600	Weak transcription	Primary hematopoietic stem cells	blood
49	chr16:81391800-81395800	Weak transcription	Monocytes-CD14+_RO01746	blood
50	chr16:81391800-81396200	Weak transcription	Rectal Smooth Muscle	rectum

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