Variant report

Variant	rs2615701
Chromosome Location	chr16:81399305-81399306
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	chr16:81399271..81400806-chr16:81410047..81412446,2	K562	blood:
2	chr16:81347950..81350114-chr16:81397372..81401433,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000261609	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11647874	0.91[CEU][hapmap]
rs12448327	0.82[CEU][hapmap]
rs17188615	0.91[CEU][hapmap]
rs1862843	0.87[CEU][hapmap]
rs1895539	0.91[CEU][hapmap]
rs1946285	0.91[CEU][hapmap]
rs1946287	0.82[CEU][hapmap]
rs1981884	0.91[CEU][hapmap]
rs2216771	0.91[CEU][hapmap]
rs2446084	0.80[CEU][hapmap]
rs2550738	0.83[CEU][hapmap];0.82[JPT][hapmap];0.86[ASN][1000 genomes]
rs2550749	0.83[CEU][hapmap]
rs2608554	0.86[ASN][1000 genomes]
rs2608557	0.94[EUR][1000 genomes]
rs2608559	0.93[EUR][1000 genomes]
rs2608560	0.92[EUR][1000 genomes]
rs2911441	0.82[JPT][hapmap];0.86[ASN][1000 genomes]
rs310025	0.95[CEU][hapmap];0.80[EUR][1000 genomes]
rs310032	0.91[CEU][hapmap];0.88[EUR][1000 genomes]
rs310034	0.86[ASN][1000 genomes]
rs310035	0.90[CEU][hapmap];0.82[JPT][hapmap];0.86[ASN][1000 genomes]
rs4889299	0.84[CEU][hapmap]
rs4889307	0.91[CEU][hapmap]
rs6564871	0.86[CEU][hapmap]
rs6564873	0.82[JPT][hapmap]
rs7191409	0.91[CEU][hapmap]
rs7630	0.91[CEU][hapmap];0.82[JPT][hapmap]
rs9928509	0.80[EUR][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	chr16:81382400-81418400	Weak transcription	Small Intestine	intestine
3	chr16:81384000-81404800	Weak transcription	Stomach Mucosa	stomach
4	chr16:81384000-81410600	Weak transcription	Fetal Kidney	kidney
5	chr16:81384200-81434600	Weak transcription	NHLF	lung
6	chr16:81384200-81437400	Weak transcription	Fetal Brain Male	brain
7	chr16:81385000-81406200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr16:81385400-81410800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr16:81385600-81418200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr16:81385800-81399800	Strong transcription	Primary T cells from cord blood	blood
11	chr16:81386400-81424200	Weak transcription	Psoas Muscle	Psoas
12	chr16:81387000-81428600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr16:81387200-81407000	Strong transcription	Duodenum Mucosa	Duodenum
14	chr16:81387200-81408200	Strong transcription	HUES64 Cell Line	embryonic stem cell
15	chr16:81387400-81400200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr16:81387600-81405800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr16:81387600-81415200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr16:81388000-81400200	Strong transcription	HUES6 Cell Line	embryonic stem cell
19	chr16:81388000-81407600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr16:81388800-81410200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr16:81390200-81407200	Strong transcription	HUES48 Cell Line	embryonic stem cell
22	chr16:81390600-81405200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr16:81390600-81407800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
24	chr16:81391200-81417600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr16:81391800-81401200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr16:81392000-81411000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr16:81392000-81428400	Weak transcription	Fetal Heart	heart
28	chr16:81392400-81408200	Strong transcription	Dnd41	blood
29	chr16:81392600-81400000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
30	chr16:81393600-81400000	Strong transcription	Ovary	ovary
31	chr16:81393600-81402400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr16:81394400-81405600	Strong transcription	Fetal Stomach	stomach
33	chr16:81394400-81406400	Strong transcription	Primary T cells fromperipheralblood	blood
34	chr16:81394600-81402600	Strong transcription	Fetal Intestine Large	intestine
35	chr16:81394800-81399600	Strong transcription	Primary T helper cells fromperipheralblood	blood
36	chr16:81394800-81400200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr16:81395000-81400200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr16:81395000-81400200	Strong transcription	Primary monocytes fromperipheralblood	blood
39	chr16:81395000-81400200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr16:81395000-81404200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr16:81395200-81399400	Strong transcription	Primary T helper cells PMA-I stimulated	--
42	chr16:81395200-81400000	Strong transcription	Fetal Brain Female	brain
43	chr16:81395200-81400000	Strong transcription	Skeletal Muscle Female	skeletal muscle
44	chr16:81395200-81400200	Strong transcription	Rectal Mucosa Donor 29	rectum
45	chr16:81395200-81403000	Strong transcription	Fetal Intestine Small	intestine
46	chr16:81395200-81404000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr16:81395200-81406800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr16:81395400-81400000	Strong transcription	Adipose Nuclei	Adipose
49	chr16:81395400-81400000	Strong transcription	Sigmoid Colon	Sigmoid Colon
50	chr16:81395400-81400200	Strong transcription	HepG2	liver

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