Variant report

Variant	rs1347597
Chromosome Location	chr5:81005907-81005908
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:80998159..81001011-chr5:81003180..81006000,3	K562	blood:
2	chr5:80997712..81001011-chr5:81003942..81006000,3	K562	blood:
3	chr5:81004548..81007464-chr5:81143257..81145481,2	K562	blood:
4	chr5:81004761..81007303-chr5:81009453..81011068,2	K562	blood:
5	chr5:81004271..81006886-chr5:81025659..81027853,2	K562	blood:

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs1023747	0.92[CEU][hapmap];0.85[CHB][hapmap]
rs11957810	0.92[CEU][hapmap]
rs12186581	0.80[ASN][1000 genomes]
rs13156146	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs13160079	0.84[ASN][1000 genomes]
rs2043646	0.89[CEU][hapmap]
rs34007998	0.84[ASN][1000 genomes]
rs365241	0.90[ASN][1000 genomes]
rs371705	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs374479	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs380946	0.82[CEU][hapmap]
rs382523	0.88[ASN][1000 genomes]
rs384433	0.88[CEU][hapmap]
rs385716	0.92[CEU][hapmap]
rs389860	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs390171	0.93[CEU][hapmap]
rs396231	0.85[CHB][hapmap]
rs398666	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs399104	0.92[CEU][hapmap]
rs402061	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs402352	0.89[CEU][hapmap];0.85[CHB][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs403777	1.00[CHB][hapmap];0.88[JPT][hapmap];0.93[ASN][1000 genomes]
rs403795	0.90[ASN][1000 genomes]
rs406283	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs406292	0.89[CEU][hapmap]
rs411520	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs411990	0.90[ASN][1000 genomes]
rs418033	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs419017	0.88[CEU][hapmap]
rs419435	0.93[ASN][1000 genomes]
rs420202	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs420412	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs421348	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs422523	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs424762	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs424844	0.93[ASN][1000 genomes]
rs425897	0.90[ASN][1000 genomes]
rs432617	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs435901	0.92[CEU][hapmap]
rs437417	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs446064	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs452314	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs453068	0.92[CEU][hapmap]
rs454487	0.89[CEU][hapmap]
rs585558	0.89[CEU][hapmap]
rs586695	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs6898782	0.85[CHB][hapmap]
rs827065	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs863772	0.92[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	nsv882233	chr5:80849084-81049187	ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv882235	chr5:80909132-81006061	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv830361	chr5:80909811-81080409	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	nsv882237	chr5:80938489-81006061	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv830362	chr5:80990787-81184249	Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:80983800-81011600	Weak transcription	Left Ventricle	heart
2	chr5:80984000-81011600	Weak transcription	Lung	lung
3	chr5:80984200-81032000	Weak transcription	Esophagus	oesophagus
4	chr5:80984400-81015000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr5:80996000-81014000	Weak transcription	Fetal Stomach	stomach
6	chr5:80996600-81007200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr5:80996600-81013600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr5:80996800-81011000	Weak transcription	Psoas Muscle	Psoas
9	chr5:80996800-81013400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr5:80996800-81014000	Weak transcription	Fetal Lung	lung
11	chr5:80997000-81013000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr5:80997200-81013600	Weak transcription	Primary B cells from cord blood	blood
13	chr5:80997200-81013800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr5:80997400-81008000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr5:80997800-81007400	Weak transcription	Primary T cells from cord blood	blood
16	chr5:80997800-81021600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr5:80999400-81013000	Weak transcription	Ovary	ovary
18	chr5:81000000-81014200	Weak transcription	Right Ventricle	heart
19	chr5:81000000-81014200	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr5:81000000-81015400	Weak transcription	Pancreas	Pancrea
21	chr5:81000400-81007400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr5:81000400-81017000	Weak transcription	Fetal Muscle Trunk	muscle
23	chr5:81000600-81013000	Weak transcription	Thymus	Thymus
24	chr5:81001200-81014200	Weak transcription	Brain Anterior Caudate	brain
25	chr5:81001800-81006200	Strong transcription	Fetal Thymus	thymus
26	chr5:81003400-81013200	Weak transcription	HSMM	muscle
27	chr5:81003800-81006000	Weak transcription	GM12878-XiMat	blood
28	chr5:81003800-81008800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr5:81003800-81013400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr5:81003800-81014000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr5:81004000-81009800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr5:81004000-81014000	Weak transcription	Primary hematopoietic stem cells	blood
33	chr5:81004400-81006600	Enhancers	Brain Angular Gyrus	brain
34	chr5:81004600-81006000	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr5:81004600-81006000	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr5:81004800-81006200	Enhancers	Fetal Brain Female	brain
37	chr5:81004800-81009400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr5:81005000-81006000	Weak transcription	Dnd41	blood
39	chr5:81005000-81006800	Enhancers	Primary T helper cells PMA-I stimulated	--
40	chr5:81005000-81007200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr5:81005200-81022000	Weak transcription	Brain Germinal Matrix	brain
42	chr5:81005400-81006400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr5:81005400-81006400	Weak transcription	Colon Smooth Muscle	Colon
44	chr5:81005400-81014200	Weak transcription	Rectal Smooth Muscle	rectum
45	chr5:81005400-81014400	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr5:81005400-81015000	Weak transcription	Brain Substantia Nigra	brain
47	chr5:81005400-81022000	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr5:81005800-81006000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr5:81005800-81006400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

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