Variant report

Variant	rs12530488
Chromosome Location	chr7:97805814-97805815
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10250231	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10270045	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs10274910	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap]
rs10277717	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs10278570	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs10279396	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10499942	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10499943	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11534031	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs12530615	0.94[CHB][hapmap];0.89[JPT][hapmap]
rs12531245	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap]
rs12531599	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12535010	1.00[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap]
rs12536312	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs12537502	1.00[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap]
rs12539192	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12673143	1.00[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap]
rs1404131	1.00[CEU][hapmap]
rs1532379	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap]
rs17169293	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap]
rs17169304	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap]
rs17169314	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap]
rs17169320	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap]
rs17169329	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap]
rs17169369	1.00[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap]
rs17169408	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap]
rs17169414	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17169418	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17169422	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2177517	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs3735254	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs3801296	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap]
rs884896	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap]
rs9641230	1.00[CEU][hapmap]
rs9641231	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9641232	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9641233	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs968527	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1031371	chr7:97312452-98070538	Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	esv3500384	chr7:97527787-98015382	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
3	esv3500386	chr7:97527787-98015382	Bivalent Enhancer Flanking Active TSS Strong transcription Enhancers Genic enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
4	nsv1017481	chr7:97597641-98041043	Active TSS Weak transcription Flanking Active TSS Genic enhancers Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
5	nsv539031	chr7:97597641-98041043	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
6	nsv1019531	chr7:97653880-98034129	Weak transcription Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	nsv539032	chr7:97653880-98034129	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
8	esv1816676	chr7:97676259-97868033	Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	nsv831066	chr7:97726879-97890550	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
10	nsv1033029	chr7:97773232-98017992	Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
11	nsv539033	chr7:97773232-98017992	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:97763400-97821000	Weak transcription	NHLF	lung
2	chr7:97763600-97814200	Weak transcription	Osteobl	bone
3	chr7:97763600-97815800	Weak transcription	HSMM	muscle
4	chr7:97764000-97806200	Weak transcription	Psoas Muscle	Psoas
5	chr7:97765800-97840800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr7:97768800-97807000	Weak transcription	Stomach Mucosa	stomach
7	chr7:97772400-97821600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr7:97781800-97808200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr7:97782400-97819000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr7:97782400-97822000	Weak transcription	Fetal Kidney	kidney
11	chr7:97782400-97839800	Weak transcription	Fetal Brain Male	brain
12	chr7:97782600-97807400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr7:97784600-97815000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr7:97785200-97818600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr7:97787400-97808200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr7:97787400-97822000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr7:97789200-97829400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr7:97793200-97822400	Weak transcription	Small Intestine	intestine
19	chr7:97793400-97818200	Weak transcription	Fetal Lung	lung
20	chr7:97793400-97841000	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr7:97793800-97815600	Weak transcription	HUVEC	blood vessel
22	chr7:97794800-97807200	Weak transcription	HMEC	breast
23	chr7:97795600-97806200	Weak transcription	Right Atrium	heart
24	chr7:97795600-97807000	Weak transcription	Brain Substantia Nigra	brain
25	chr7:97798800-97811800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr7:97799400-97815800	Weak transcription	HSMMtube	muscle
27	chr7:97799400-97818400	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr7:97799600-97808200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr7:97800200-97806800	Strong transcription	Rectal Mucosa Donor 31	rectum
30	chr7:97800200-97808800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr7:97800400-97809200	Strong transcription	Primary T cells from cord blood	blood
32	chr7:97800600-97809600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr7:97800600-97809600	Strong transcription	Monocytes-CD14+_RO01746	blood
34	chr7:97800800-97807000	Strong transcription	HUES64 Cell Line	embryonic stem cell
35	chr7:97801000-97809400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr7:97801000-97809800	Strong transcription	Primary T helper cells fromperipheralblood	blood
37	chr7:97801200-97821000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr7:97801400-97807600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr7:97801800-97817000	Weak transcription	Colonic Mucosa	Colon
40	chr7:97802600-97816800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr7:97802800-97813200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr7:97803200-97809400	Strong transcription	Rectal Mucosa Donor 29	rectum
43	chr7:97803200-97809600	Strong transcription	HepG2	liver
44	chr7:97803400-97809400	Strong transcription	Primary neutrophils fromperipheralblood	blood
45	chr7:97803400-97809400	Strong transcription	Sigmoid Colon	Sigmoid Colon
46	chr7:97803600-97806400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
47	chr7:97803600-97807400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr7:97803600-97809200	Strong transcription	Primary T cells fromperipheralblood	blood
49	chr7:97803600-97809400	Strong transcription	Fetal Intestine Large	intestine
50	chr7:97803800-97807200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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