Variant report

Variant	rs3822751
Chromosome Location	chr5:95154210-95154211
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:95152970..95154938-chr5:95156399..95158380,2	MCF-7	breast:
2	chr5:95148182..95149810-chr5:95152162..95154421,2	MCF-7	breast:
3	chr5:95151960..95154634-chr5:95154994..95157886,2	K562	blood:
4	chr5:95152689..95154883-chr5:95158180..95160300,2	K562	blood:

Variant related genes	Relation type
ENSG00000173221	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10040697	0.81[CHB][hapmap]
rs12109442	0.95[CHB][hapmap]
rs12109499	0.83[ASN][1000 genomes]
rs12651950	0.85[CHB][hapmap]
rs17085159	0.95[CHB][hapmap]
rs17085165	0.95[CHB][hapmap]
rs17085170	0.90[CHB][hapmap]
rs2007	0.87[CEU][hapmap]
rs2546193	0.80[CHB][hapmap]
rs4869251	0.95[CHB][hapmap]
rs60682160	0.94[ASN][1000 genomes]
rs6556883	0.91[CEU][hapmap];0.95[CHB][hapmap];0.89[JPT][hapmap]
rs7734301	0.81[CHB][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	nsv830409	chr5:95006686-95204496	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv1015180	chr5:95134357-95286446	Strong transcription Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv462255	chr5:95142817-95168155	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv598961	chr5:95142817-95168155	Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	7 gene(s)	inside rSNPs	diseases
5	nsv882389	chr5:95144952-95173887	Strong transcription Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:95115400-95157000	Weak transcription	Aorta	Aorta
2	chr5:95121000-95156800	Weak transcription	Brain Germinal Matrix	brain
3	chr5:95124600-95154400	Weak transcription	Brain Angular Gyrus	brain
4	chr5:95125000-95154400	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr5:95130000-95157400	Weak transcription	Ovary	ovary
6	chr5:95145600-95154400	Weak transcription	Esophagus	oesophagus
7	chr5:95146000-95157200	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr5:95146800-95157000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr5:95148200-95154400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr5:95148200-95156800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr5:95148200-95157800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr5:95148400-95156400	Weak transcription	Fetal Brain Male	brain
13	chr5:95148400-95156800	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr5:95151800-95156800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr5:95152200-95157000	Weak transcription	HUVEC	blood vessel
16	chr5:95152600-95154800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr5:95152600-95154800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
18	chr5:95152600-95155000	Transcr. at gene 5' and 3'	Primary T cells fromperipheralblood	blood
19	chr5:95152600-95155000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
20	chr5:95152600-95155000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr5:95152600-95155200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
22	chr5:95152600-95157200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
23	chr5:95152800-95154400	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr5:95152800-95154600	Enhancers	Lung	lung
25	chr5:95152800-95154600	Enhancers	Stomach Mucosa	stomach
26	chr5:95152800-95154800	Genic enhancers	Fetal Muscle Leg	muscle
27	chr5:95152800-95154800	Genic enhancers	Spleen	Spleen
28	chr5:95152800-95155400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
29	chr5:95152800-95155400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr5:95153000-95154400	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr5:95153000-95154400	Flanking Active TSS	HSMM	muscle
32	chr5:95153000-95154600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr5:95153000-95155000	Enhancers	Fetal Heart	heart
34	chr5:95153000-95155200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
35	chr5:95153000-95155200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr5:95153000-95155200	Transcr. at gene 5' and 3'	Placenta	Placenta
37	chr5:95153000-95155800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
38	chr5:95153000-95157600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
39	chr5:95153200-95154600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
40	chr5:95153200-95154600	Flanking Active TSS	Osteobl	bone
41	chr5:95153200-95154800	Flanking Active TSS	Duodenum Mucosa	Duodenum
42	chr5:95153200-95155000	Flanking Active TSS	Primary hematopoietic stem cells	blood
43	chr5:95153200-95156400	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr5:95153200-95157600	Transcr. at gene 5' and 3'	Dnd41	blood
45	chr5:95153200-95160400	Flanking Active TSS	Primary B cells from cord blood	blood
46	chr5:95153400-95154400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr5:95153400-95154400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
48	chr5:95153400-95154400	Enhancers	NHDF-Ad	bronchial
49	chr5:95153400-95154800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr5:95153400-95154800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood

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