Variant report

Variant	rs11598261
Chromosome Location	chr10:42526835-42526836
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:42526394..42527915-chr7:61967791..61969362,3	MCF-7	breast:
2	chr10:42526395..42527915-chr7:61967791..61969507,5	MCF-7	breast:
3	chr10:42525601..42527915-chr7:61967079..61969278,2	K562	blood:
4	chr10:42526475..42528192-chr19:27731227..27733212,2	MCF-7	breast:
5	chr10:42525601..42527915-chr7:61967079..61969468,3	K562	blood:

Extended variants
information (count: 72 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10797135	0.82[AMR][1000 genomes]
rs10908976	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10908977	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10908978	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11265989	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11265991	0.83[AMR][1000 genomes]
rs11266016	0.86[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs11266024	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11266025	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11266028	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11266180	0.84[AMR][1000 genomes]
rs11493016	0.80[AMR][1000 genomes]
rs11493021	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11517394	0.80[AMR][1000 genomes]
rs11522555	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11522557	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11528759	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11528772	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11528797	0.85[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs11528808	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11528887	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11528890	0.85[AMR][1000 genomes]
rs11599061	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12775935	0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs1581424	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1589591	0.86[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs1603829	0.84[AMR][1000 genomes]
rs1603832	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1603833	0.87[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs1608195	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1608200	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1846409	0.86[AMR][1000 genomes]
rs1846411	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2140208	0.86[AMR][1000 genomes]
rs2334906	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs34874577	0.83[AMR][1000 genomes]
rs61846586	0.86[AMR][1000 genomes]
rs9663131	0.88[AMR][1000 genomes]
rs9663147	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9663319	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9663326	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9664755	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9665316	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9702335	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9702505	0.87[AMR][1000 genomes]
rs9794438	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3381019	chr10:42379843-42797311	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	esv3327265	chr10:42383108-42800080	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	esv3381544	chr10:42385160-42597916	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv550608	chr10:42388730-42534628	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Active TSS Enhancers	Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	esv3353947	chr10:42396093-42662055	ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	esv3508721	chr10:42396414-42599602	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers	Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	esv3508722	chr10:42396414-42599602	Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	esv3527791	chr10:42396830-42596972	ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	esv3527792	chr10:42396830-42596972	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription	Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	esv3410118	chr10:42399439-42817641	ZNF genes & repeats Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
11	esv3149	chr10:42399672-42532552	Weak transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
12	esv4174	chr10:42408625-42539037	Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Strong transcription	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
13	nsv1035511	chr10:42433540-42636467	ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Enhancers	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
14	nsv1050409	chr10:42433540-42690550	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
15	nsv1041974	chr10:42433540-42760904	Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
16	nsv1052577	chr10:42433540-42827991	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
17	nsv1036341	chr10:42433540-42853111	ZNF genes & repeats Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
18	nsv1036366	chr10:42433540-42853690	ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
19	esv2757380	chr10:42433540-42929116	ZNF genes & repeats Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
20	esv2759745	chr10:42433540-42929116	Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
21	nsv1044537	chr10:42463534-42635506	Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
22	nsv1042307	chr10:42477859-42655660	Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
23	nsv482591	chr10:42492996-42642328	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
24	nsv437669	chr10:42523670-42608040	Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
25	nsv1049608	chr10:42525112-42820273	Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
26	esv4801	chr10:42526034-42534791	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Strong transcription	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs11598261	RP11-313J2.1	cis	Thyroid	GTEx
rs11598261	LINC00839	cis	lung	GTEx
rs11598261	LINC00839	cis	Artery Aorta	GTEx
rs11598261	RP11-313J2.1	cis	Nerve Tibial	GTEx

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:42525400-42533200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
2	chr10:42525800-42533600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
3	chr10:42526000-42527200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr10:42526200-42527000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr10:42526200-42527000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr10:42526200-42527000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr10:42526200-42527000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr10:42526200-42527000	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr10:42526200-42527000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr10:42526200-42527000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr10:42526200-42527000	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr10:42526200-42527000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr10:42526200-42527000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr10:42526200-42527000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr10:42526200-42527000	Weak transcription	Primary B cells from peripheral blood	blood
16	chr10:42526200-42527000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr10:42526200-42527000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr10:42526200-42527000	Weak transcription	Brain Anterior Caudate	brain
19	chr10:42526200-42527000	Weak transcription	Duodenum Mucosa	Duodenum
20	chr10:42526200-42527000	Weak transcription	Fetal Brain Male	brain
21	chr10:42526200-42527000	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr10:42526200-42527000	Weak transcription	A549	lung
23	chr10:42526200-42527000	Weak transcription	Dnd41	blood
24	chr10:42526200-42527000	Weak transcription	HepG2	liver
25	chr10:42526200-42527000	Weak transcription	HMEC	breast
26	chr10:42526200-42527000	Weak transcription	HUVEC	blood vessel
27	chr10:42526200-42527000	Weak transcription	Monocytes-CD14+_RO01746	blood
28	chr10:42526200-42527000	Weak transcription	Osteobl	bone
29	chr10:42526200-42527200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr10:42526200-42527200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr10:42526200-42527200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr10:42526200-42527200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr10:42526200-42527200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr10:42526200-42527200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr10:42526200-42527200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr10:42526200-42527200	Weak transcription	Primary T helper cells PMA-I stimulated	--
37	chr10:42526200-42527200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr10:42526200-42527200	Weak transcription	Primary T helper cells fromperipheralblood	blood
39	chr10:42526200-42527200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr10:42526200-42527200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr10:42526200-42527200	Weak transcription	Aorta	Aorta
42	chr10:42526200-42527200	Weak transcription	Brain Angular Gyrus	brain
43	chr10:42526200-42527200	Weak transcription	Brain Cingulate Gyrus	brain
44	chr10:42526200-42527200	Weak transcription	Brain Hippocampus Middle	brain
45	chr10:42526200-42527200	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr10:42526200-42527200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr10:42526200-42527200	Weak transcription	Colon Smooth Muscle	Colon
48	chr10:42526200-42527200	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr10:42526200-42527200	Weak transcription	Fetal Kidney	kidney
50	chr10:42526200-42527200	Weak transcription	Pancreatic Islets	Pancreatic Islet

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