Variant report

Variant	rs586785
Chromosome Location	chr11:17208714-17208715
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:17200195..17203044-chr11:17207705..17210741,3	K562	blood:
2	chr11:17207589..17210389-chr11:17212889..17214960,2	MCF-7	breast:
3	chr11:17201544..17204843-chr11:17207859..17210741,3	K562	blood:
4	chr11:17206803..17209141-chr11:17217436..17220407,2	MCF-7	breast:

Extended variants
information (count: 49 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10832731	0.82[EUR][1000 genomes]
rs11024149	0.83[EUR][1000 genomes]
rs11608038	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1236311	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12420958	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12577388	1.00[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12577418	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12577525	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12577815	0.88[EUR][1000 genomes]
rs17472942	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17473243	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17560341	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17561348	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17641418	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1987694	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs214070	0.80[CHB][hapmap]
rs214091	0.81[CHB][hapmap];0.82[JPT][hapmap]
rs214903	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs214932	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs214933	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs214934	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs214938	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34724588	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34941502	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3950680	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs476890	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs492263	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs522619	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs569780	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60173525	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs615424	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61879692	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61881877	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs61881881	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs644419	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs664382	0.98[EUR][1000 genomes]
rs665311	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs679201	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7108067	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7478986	0.90[CHB][hapmap];0.83[JPT][hapmap];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv467711	chr11:17027555-17320797	Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv553568	chr11:17027555-17320797	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv469762	chr11:17170690-17320691	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
4	nsv482905	chr11:17170690-17320691	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
5	nsv553569	chr11:17201219-17211182	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv553570	chr11:17203765-17210885	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	esv3453719	chr11:17207776-17212474	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
8	esv3492050	chr11:17208176-17212624	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
9	esv3492054	chr11:17208676-17212324	Strong transcription Genic enhancers Weak transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs586785	NUCB2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:17156600-17219200	Weak transcription	HSMMtube	muscle
2	chr11:17158000-17215600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr11:17165200-17215200	Weak transcription	Rectal Smooth Muscle	rectum
4	chr11:17167400-17212600	Weak transcription	Stomach Smooth Muscle	stomach
5	chr11:17167400-17228000	Weak transcription	Fetal Thymus	thymus
6	chr11:17172600-17214600	Weak transcription	Fetal Brain Female	brain
7	chr11:17184800-17228800	Weak transcription	Esophagus	oesophagus
8	chr11:17185800-17212800	Weak transcription	Pancreas	Pancrea
9	chr11:17187000-17212600	Weak transcription	Brain Hippocampus Middle	brain
10	chr11:17187000-17228000	Weak transcription	Colonic Mucosa	Colon
11	chr11:17187200-17210000	Weak transcription	Psoas Muscle	Psoas
12	chr11:17187200-17210000	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr11:17187200-17212600	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr11:17187200-17214000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr11:17187200-17214200	Weak transcription	Right Ventricle	heart
16	chr11:17187200-17226800	Weak transcription	Small Intestine	intestine
17	chr11:17191000-17210000	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr11:17191000-17210200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr11:17191000-17220600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr11:17191200-17209800	Weak transcription	Fetal Muscle Leg	muscle
21	chr11:17191200-17210000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr11:17191200-17210000	Weak transcription	Fetal Muscle Trunk	muscle
23	chr11:17191200-17212200	Weak transcription	Primary hematopoietic stem cells	blood
24	chr11:17191200-17212400	Weak transcription	Primary B cells from peripheral blood	blood
25	chr11:17191200-17212600	Weak transcription	Duodenum Mucosa	Duodenum
26	chr11:17191200-17213000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr11:17191200-17213000	Weak transcription	Dnd41	blood
28	chr11:17191200-17227800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr11:17191400-17212800	Weak transcription	Primary T cells fromperipheralblood	blood
30	chr11:17191400-17213000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr11:17191400-17214400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr11:17191600-17212200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr11:17191800-17212400	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr11:17191800-17212800	Weak transcription	Fetal Kidney	kidney
35	chr11:17192000-17214400	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr11:17192400-17214400	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr11:17192400-17217800	Weak transcription	Stomach Mucosa	stomach
38	chr11:17193200-17212400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr11:17193800-17213000	Weak transcription	NH-A	brain
40	chr11:17194000-17209800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr11:17194000-17210200	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr11:17194000-17212400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr11:17194000-17212400	Weak transcription	Hela-S3	cervix
44	chr11:17194000-17212600	Weak transcription	Placenta	Placenta
45	chr11:17194000-17212800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr11:17194000-17212800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr11:17194000-17212800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr11:17194000-17212800	Weak transcription	Ovary	ovary
49	chr11:17194000-17212800	Weak transcription	Right Atrium	heart
50	chr11:17194000-17212800	Weak transcription	Osteobl	bone

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