Variant report

Variant	rs3765515
Chromosome Location	chr14:56126026-56126027
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:56120266..56122635-chr14:56124757..56126273,2	K562	blood:
2	chr14:56113692..56116512-chr14:56123800..56126287,2	MCF-7	breast:
3	chr14:56118646..56123000-chr14:56124614..56127350,4	MCF-7	breast:
4	chr14:56123511..56126228-chr14:56130259..56133014,2	K562	blood:

Variant related genes	Relation type
ENSG00000126777	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10136386	0.88[CEU][hapmap]
rs10146870	1.00[CEU][hapmap]
rs10444721	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap]
rs10483644	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs10483649	0.81[JPT][hapmap]
rs12432887	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs12435643	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs12587735	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs12590388	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs12590936	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs12882850	0.96[CEU][hapmap];0.83[CHB][hapmap];0.82[JPT][hapmap]
rs12888809	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs12893162	0.95[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap]
rs12897227	1.00[CEU][hapmap];0.83[CHB][hapmap];0.82[JPT][hapmap]
rs17128614	0.82[JPT][hapmap]
rs17128657	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs17128684	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs17684959	0.96[CEU][hapmap];0.86[CHB][hapmap];0.87[YRI][hapmap]
rs1951887	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1951889	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs2252189	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs2274076	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs2274078	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs2296182	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3736877	0.80[CEU][hapmap]
rs3783654	0.84[CEU][hapmap]
rs4457912	1.00[CEU][hapmap];0.81[JPT][hapmap];0.80[YRI][hapmap]
rs6573053	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs6573054	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7150285	0.87[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap]
rs7156566	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs7158176	1.00[CEU][hapmap]
rs8007832	1.00[CEU][hapmap]
rs8011732	0.81[CEU][hapmap]
rs942317	0.80[CEU][hapmap]

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	nsv1051564	chr14:55895610-56130788	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	nsv542103	chr14:55895610-56130788	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv832804	chr14:56083850-56277632	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	esv1792376	chr14:56108007-56150151	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1283	chr14:56120059-56164729	Strong transcription Genic enhancers ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 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	chr14:56078600-56148600	Weak transcription	Stomach Mucosa	stomach
2	chr14:56087400-56132200	Strong transcription	Dnd41	blood
3	chr14:56087600-56145200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr14:56088200-56129400	Weak transcription	Spleen	Spleen
5	chr14:56088200-56132200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr14:56088400-56153200	Weak transcription	Gastric	stomach
7	chr14:56092800-56135400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr14:56094400-56132600	Strong transcription	HSMM	muscle
9	chr14:56095000-56142200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr14:56097600-56145200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr14:56097600-56155400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr14:56099000-56128000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr14:56100200-56131000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr14:56101000-56132800	Strong transcription	Primary B cells from peripheral blood	blood
15	chr14:56101800-56128800	Weak transcription	Fetal Stomach	stomach
16	chr14:56101800-56162800	Weak transcription	Brain Germinal Matrix	brain
17	chr14:56102400-56145200	Weak transcription	Lung	lung
18	chr14:56102400-56185400	Weak transcription	Right Ventricle	heart
19	chr14:56103400-56130600	Weak transcription	Thymus	Thymus
20	chr14:56104600-56127600	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr14:56104800-56128800	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr14:56104800-56157400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr14:56105000-56129200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr14:56105000-56138200	Weak transcription	Psoas Muscle	Psoas
25	chr14:56106000-56150200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr14:56109200-56132000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
27	chr14:56109200-56141800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr14:56109200-56164000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
29	chr14:56109600-56131400	Strong transcription	HUES64 Cell Line	embryonic stem cell
30	chr14:56109800-56128000	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr14:56109800-56139600	Weak transcription	Colonic Mucosa	Colon
32	chr14:56109800-56145400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr14:56111800-56127200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr14:56112800-56131200	Strong transcription	Primary T helper cells fromperipheralblood	blood
35	chr14:56113200-56131400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr14:56113400-56130000	Strong transcription	Rectal Mucosa Donor 31	rectum
37	chr14:56113400-56132000	Strong transcription	HUES48 Cell Line	embryonic stem cell
38	chr14:56113800-56155000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr14:56114600-56131400	Strong transcription	HUES6 Cell Line	embryonic stem cell
40	chr14:56114800-56127200	Strong transcription	Primary B cells from cord blood	blood
41	chr14:56114800-56128000	Strong transcription	Rectal Mucosa Donor 29	rectum
42	chr14:56114800-56128200	Strong transcription	Placenta	Placenta
43	chr14:56114800-56128400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr14:56114800-56131400	Strong transcription	Primary monocytes fromperipheralblood	blood
45	chr14:56114800-56131400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr14:56114800-56132200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr14:56115000-56127000	Strong transcription	Duodenum Mucosa	Duodenum
48	chr14:56115000-56131600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
49	chr14:56115000-56131600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr14:56115000-56131600	Strong transcription	Adipose Nuclei	Adipose

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