Variant report

Variant	rs17351999
Chromosome Location	chr4:130032843-130032844
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:130019234..130021165-chr4:130030871..130032869,2	K562	blood:
2	chr4:130017343..130020226-chr4:130031173..130032927,2	K562	blood:
3	chr4:130030784..130034303-chr4:130034493..130036505,5	K562	blood:
4	chr4:130028612..130032885-chr4:130034533..130038076,4	K562	blood:

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs11098995	0.83[AFR][1000 genomes]
rs11098996	1.00[CHB][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs11723520	0.83[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs11725174	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11726460	0.92[CHB][hapmap];1.00[YRI][hapmap]
rs11728895	1.00[CHB][hapmap];0.83[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs11728986	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11736968	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11737003	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11737495	1.00[CHB][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs11946237	0.87[EUR][1000 genomes]
rs12500480	0.82[ASN][1000 genomes]
rs12500938	1.00[CHB][hapmap];1.00[YRI][hapmap]
rs12501507	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12501997	1.00[CHB][hapmap];1.00[YRI][hapmap]
rs12505162	0.83[AFR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12505609	1.00[CHB][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs12508824	0.82[AMR][1000 genomes]
rs12509933	1.00[CHB][hapmap];1.00[YRI][hapmap]
rs13107038	1.00[CHB][hapmap];1.00[YRI][hapmap];0.82[ASN][1000 genomes]
rs13114398	0.85[CHB][hapmap]
rs13115576	1.00[CHB][hapmap];0.83[AFR][1000 genomes]
rs13124420	1.00[CHB][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs13134769	1.00[CHB][hapmap];0.83[AFR][1000 genomes]
rs13142673	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13144594	0.81[CHB][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs13146453	0.83[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs13148505	1.00[CHB][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs1446996	1.00[CHB][hapmap];0.83[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs17014099	1.00[CHB][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs17014259	0.87[EUR][1000 genomes]
rs17185515	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17789626	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17790511	0.84[CHB][hapmap]
rs1867951	0.82[AMR][1000 genomes]
rs34145504	0.82[ASN][1000 genomes]
rs34359646	0.95[ASN][1000 genomes]
rs34514942	0.83[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs34633860	0.83[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs35693043	0.83[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs35961303	0.83[AFR][1000 genomes]
rs35975200	0.83[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs3754476	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62316964	0.83[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs62316972	0.82[ASN][1000 genomes]
rs62317936	0.83[AFR][1000 genomes]
rs62318662	0.83[AFR][1000 genomes]
rs66737416	0.83[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869258	chr4:129191619-130138148	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
2	nsv534538	chr4:129799138-130431688	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv879931	chr4:129939775-130178102	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:130017600-130040400	Weak transcription	Lung	lung
2	chr4:130017800-130033400	Weak transcription	Brain Hippocampus Middle	brain
3	chr4:130017800-130033400	Weak transcription	Thymus	Thymus
4	chr4:130017800-130034200	Weak transcription	Colonic Mucosa	Colon
5	chr4:130018000-130033000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr4:130018000-130033200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr4:130018000-130033400	Weak transcription	Brain Cingulate Gyrus	brain
8	chr4:130018000-130034000	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr4:130018000-130038000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr4:130018800-130033800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr4:130023600-130033400	Strong transcription	Primary monocytes fromperipheralblood	blood
12	chr4:130025200-130033200	Weak transcription	Fetal Lung	lung
13	chr4:130025800-130035000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr4:130028400-130033600	Weak transcription	Fetal Brain Female	brain
15	chr4:130028800-130036600	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr4:130029200-130040000	Weak transcription	Esophagus	oesophagus
17	chr4:130029400-130035400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr4:130029400-130041200	Weak transcription	Spleen	Spleen
19	chr4:130029600-130038600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr4:130029800-130033000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr4:130030400-130033600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr4:130030400-130034000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr4:130030800-130034000	Weak transcription	NHEK	skin
24	chr4:130030800-130035600	Weak transcription	Gastric	stomach
25	chr4:130031400-130033000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr4:130031400-130036800	Weak transcription	Primary T helper cells fromperipheralblood	blood
27	chr4:130031800-130033400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr4:130031800-130034000	Weak transcription	Fetal Stomach	stomach
29	chr4:130031800-130034800	Weak transcription	K562	blood
30	chr4:130031800-130035800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr4:130031800-130035800	Weak transcription	Left Ventricle	heart
32	chr4:130031800-130036800	Weak transcription	Rectal Smooth Muscle	rectum
33	chr4:130031800-130037400	Weak transcription	Primary hematopoietic stem cells	blood
34	chr4:130031800-130037400	Weak transcription	Duodenum Mucosa	Duodenum
35	chr4:130031800-130039800	Weak transcription	Primary neutrophils fromperipheralblood	blood
36	chr4:130031800-130040000	Weak transcription	Dnd41	blood
37	chr4:130032000-130034600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr4:130032000-130034800	Weak transcription	Primary B cells from cord blood	blood
39	chr4:130032000-130035400	Weak transcription	Ovary	ovary
40	chr4:130032000-130037400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr4:130032200-130033800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr4:130032200-130033800	Weak transcription	Primary B cells from peripheral blood	blood
43	chr4:130032200-130033800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr4:130032200-130033800	Weak transcription	Fetal Thymus	thymus
45	chr4:130032200-130033800	Weak transcription	Stomach Smooth Muscle	stomach
46	chr4:130032200-130034400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr4:130032200-130034800	Weak transcription	Adipose Nuclei	Adipose
48	chr4:130032200-130034800	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr4:130032200-130035000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr4:130032400-130033000	Weak transcription	Skeletal Muscle Female	skeletal muscle

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