Variant report

Variant	rs17107166
Chromosome Location	chr14:70111936-70111937
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:70110747..70113182-chr14:70129071..70131111,2	MCF-7	breast:
2	chr14:70111658..70113188-chr14:70123507..70126017,2	MCF-7	breast:
3	chr14:70110578..70113027-chr14:70121882..70124631,2	K562	blood:
4	chr14:70110167..70112208-chr14:70116437..70117943,2	MCF-7	breast:
5	chr14:70110323..70113249-chr14:70160948..70165525,4	K562	blood:
6	chr14:70093575..70095940-chr14:70109923..70112166,2	K562	blood:

Variant related genes	Relation type
ENSG00000100647	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1275832	1.00[AMR][1000 genomes]
rs17107164	1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17107165	1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2783512	1.00[AMR][1000 genomes]
rs3784142	1.00[MEX][hapmap]
rs3784148	0.84[MKK][hapmap]
rs55954221	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56192566	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57105079	1.00[AMR][1000 genomes]
rs61636155	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74060221	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74060225	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74060228	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74060232	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74060235	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74060238	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74060242	0.87[AFR][1000 genomes]
rs74060243	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74060250	1.00[AMR][1000 genomes]
rs762049	1.00[MEX][hapmap]
rs9671513	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049280	chr14:70036804-70172630	Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv542124	chr14:70036804-70172630	Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv456336	chr14:70081956-70574149	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
4	nsv565007	chr14:70081956-70574149	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70104800-70125600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr14:70105000-70113800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr14:70105200-70115400	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr14:70105400-70114000	Weak transcription	Fetal Stomach	stomach
5	chr14:70105600-70115600	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr14:70105800-70113800	Weak transcription	Osteobl	bone
7	chr14:70105800-70114600	Weak transcription	Placenta	Placenta
8	chr14:70105800-70115600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr14:70106200-70113200	ZNF genes & repeats	GM12878-XiMat	blood
10	chr14:70106600-70115000	Weak transcription	Fetal Kidney	kidney
11	chr14:70108000-70113800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr14:70108200-70114000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr14:70108400-70121200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr14:70109000-70114600	Weak transcription	Fetal Muscle Trunk	muscle
15	chr14:70109000-70121400	Enhancers	Stomach Mucosa	stomach
16	chr14:70109200-70112200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
17	chr14:70109400-70112000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
18	chr14:70109400-70112000	Enhancers	Duodenum Mucosa	Duodenum
19	chr14:70109400-70112000	Enhancers	Duodenum Smooth Muscle	Duodenum
20	chr14:70109400-70112200	Enhancers	Primary T helper cells fromperipheralblood	blood
21	chr14:70109400-70112400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr14:70109400-70115400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr14:70109400-70121200	Enhancers	Small Intestine	intestine
24	chr14:70109600-70112000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr14:70109600-70112000	Enhancers	Brain Anterior Caudate	brain
26	chr14:70109600-70112000	Enhancers	Fetal Intestine Large	intestine
27	chr14:70109600-70112000	Enhancers	Psoas Muscle	Psoas
28	chr14:70109600-70112200	Enhancers	Brain Angular Gyrus	brain
29	chr14:70109600-70112200	Enhancers	HMEC	breast
30	chr14:70109600-70113000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr14:70109600-70113000	Enhancers	Pancreatic Islets	Pancreatic Islet
32	chr14:70109600-70113000	Enhancers	Sigmoid Colon	Sigmoid Colon
33	chr14:70109600-70121200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
34	chr14:70109800-70112000	Enhancers	Fetal Intestine Small	intestine
35	chr14:70109800-70112000	Enhancers	NHEK	skin
36	chr14:70109800-70112200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr14:70109800-70112200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
38	chr14:70109800-70115200	Weak transcription	Fetal Thymus	thymus
39	chr14:70109800-70125400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr14:70110000-70112400	Enhancers	Breast Myoepithelial Primary Cells	Breast
41	chr14:70110000-70112400	Enhancers	Primary hematopoietic stem cells	blood
42	chr14:70110000-70115200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr14:70110000-70122800	Enhancers	Primary monocytes fromperipheralblood	blood
44	chr14:70110200-70112000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
45	chr14:70110200-70112400	Enhancers	Primary hematopoietic stem cells short term culture	blood
46	chr14:70110200-70113800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr14:70110200-70121400	Enhancers	Primary T helper cells PMA-I stimulated	--
48	chr14:70110400-70112200	Genic enhancers	Primary B cells from cord blood	blood
49	chr14:70110400-70113600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr14:70110400-70113800	Weak transcription	NHLF	lung

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