Variant report

Variant	rs7194527
Chromosome Location	chr16:70761217-70761218
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:70718434..70719938-chr16:70760026..70761921,2	K562	blood:
2	chr16:70725942..70727688-chr16:70759419..70762080,2	K562	blood:
3	chr16:70749284..70751657-chr16:70760367..70762394,2	MCF-7	breast:
4	chr16:70760849..70763441-chr16:70769230..70771713,2	MCF-7	breast:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs13332988	0.84[YRI][hapmap]
rs13333447	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs13338727	0.92[YRI][hapmap]
rs16970442	0.85[AMR][1000 genomes]
rs16970464	1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs8059656	0.97[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs9302616	0.92[YRI][hapmap]
rs9922335	0.92[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv517391	chr16:70666410-70840490	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv457517	chr16:70666722-70840490	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv572945	chr16:70666722-70840490	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	nsv906877	chr16:70677785-70766378	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats 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	18 gene(s)	inside rSNPs	diseases
5	nsv906878	chr16:70677785-70782922	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
6	nsv906879	chr16:70677785-70790831	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
7	nsv906880	chr16:70677785-70796515	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
8	nsv1059226	chr16:70708698-70779144	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
9	nsv906889	chr16:70724001-70790831	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
10	nsv906890	chr16:70740707-70790831	Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
11	nsv1061191	chr16:70754975-71201367	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:70727000-70770800	Weak transcription	GM12878-XiMat	blood
2	chr16:70750400-70764800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr16:70750400-70767000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr16:70750600-70766600	Strong transcription	Primary monocytes fromperipheralblood	blood
5	chr16:70750800-70771800	Weak transcription	A549	lung
6	chr16:70752600-70770800	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr16:70753200-70766400	Strong transcription	Primary T cells from cord blood	blood
8	chr16:70753400-70767200	Strong transcription	Primary B cells from peripheral blood	blood
9	chr16:70753800-70761600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
10	chr16:70753800-70764800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr16:70754200-70761800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr16:70754200-70768800	Weak transcription	Osteobl	bone
13	chr16:70754400-70764800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr16:70754400-70776600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr16:70754400-70780000	Weak transcription	Hela-S3	cervix
16	chr16:70754600-70761600	Weak transcription	Primary hematopoietic stem cells	blood
17	chr16:70754600-70761600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr16:70754600-70761800	Weak transcription	Aorta	Aorta
19	chr16:70754600-70764800	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr16:70754800-70764800	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr16:70755200-70769600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr16:70755600-70774200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr16:70755800-70761800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr16:70755800-70772000	Weak transcription	Small Intestine	intestine
25	chr16:70756000-70762200	Weak transcription	Dnd41	blood
26	chr16:70756600-70768600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr16:70757200-70761600	Enhancers	Fetal Muscle Leg	muscle
28	chr16:70757600-70762200	Enhancers	Right Ventricle	heart
29	chr16:70757800-70766000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr16:70758000-70761600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr16:70758000-70761600	Enhancers	Fetal Muscle Trunk	muscle
32	chr16:70758200-70761800	Enhancers	Rectal Smooth Muscle	rectum
33	chr16:70758400-70768800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr16:70758600-70762200	Enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr16:70758800-70762200	Enhancers	Ovary	ovary
36	chr16:70759000-70761400	Enhancers	Fetal Brain Female	brain
37	chr16:70759000-70761600	Enhancers	Adipose Nuclei	Adipose
38	chr16:70759000-70761600	Enhancers	Fetal Brain Male	brain
39	chr16:70759000-70766400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr16:70759000-70766400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr16:70759200-70761600	Enhancers	Fetal Stomach	stomach
42	chr16:70759600-70762200	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
43	chr16:70759600-70762600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr16:70759800-70762400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
45	chr16:70759800-70766000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr16:70759800-70766200	Strong transcription	Thymus	Thymus
47	chr16:70759800-70766400	Strong transcription	Primary T helper cells PMA-I stimulated	--
48	chr16:70759800-70769600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
49	chr16:70759800-70770400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr16:70760000-70761600	Weak transcription	H1 Cell Line	embryonic stem cell

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