Variant report

Variant	rs11212515
Chromosome Location	chr11:107997465-107997466
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:107990918..107994188-chr11:107994628..107998431,6	K562	blood:
2	chr11:107990918..107994596-chr11:107994628..107998415,6	K562	blood:
3	chr11:107991960..107994458-chr11:107997090..107998988,4	MCF-7	breast:
4	chr11:107995883..108000006-chr11:108001500..108005772,6	K562	blood:
5	chr11:107995936..108000006-chr11:108001647..108004743,4	K562	blood:

Variant related genes	Relation type
ENSG00000255467	Chromatin interaction
ENSG00000075239	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10890813	0.94[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10890819	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10890820	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12226047	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12226342	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs228593	0.94[CEU][hapmap]
rs228606	0.85[JPT][hapmap]
rs3741056	0.95[CEU][hapmap];0.90[CHB][hapmap];0.86[JPT][hapmap]
rs4754297	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4987913	1.00[YRI][hapmap]
rs7114794	0.94[CEU][hapmap];0.89[CHB][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7928764	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs920679	0.94[CEU][hapmap];0.85[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533794	chr11:107349817-108093259	Bivalent Enhancer Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	esv3372573	chr11:107880365-108022895	Weak transcription Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv1039549	chr11:107950572-108034548	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv1040522	chr11:107969357-108049672	Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11212515	KDELC2	cis	Skin Sun Exposed Lower leg	GTEx
rs11212515	ACAT1	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:107993000-108002600	Weak transcription	Placenta	Placenta
2	chr11:107993200-107998800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:107993200-108002800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr11:107993200-108013200	Weak transcription	Fetal Thymus	thymus
5	chr11:107993200-108018600	Weak transcription	Thymus	Thymus
6	chr11:107993200-108021800	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr11:107993200-108030000	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr11:107993200-108069600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr11:107993400-107998600	Weak transcription	Fetal Muscle Trunk	muscle
10	chr11:107993400-108004000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr11:107993400-108004200	Weak transcription	Primary T cells from cord blood	blood
12	chr11:107993400-108006000	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr11:107993400-108009600	Weak transcription	Colonic Mucosa	Colon
14	chr11:107993400-108011200	Weak transcription	Esophagus	oesophagus
15	chr11:107993400-108012600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr11:107993400-108013200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr11:107993400-108014000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr11:107993400-108017800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr11:107993600-107998400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr11:107993600-107998600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr11:107993600-108004000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr11:107993600-108004600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr11:107993600-108005800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr11:107993600-108005800	Weak transcription	NH-A	brain
25	chr11:107993600-108006600	Weak transcription	HMEC	breast
26	chr11:107993600-108006800	Weak transcription	HSMMtube	muscle
27	chr11:107993600-108013200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr11:107993600-108018800	Weak transcription	Fetal Kidney	kidney
29	chr11:107993800-107998200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr11:107993800-108010800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr11:107994000-108029600	Weak transcription	Fetal Brain Male	brain
32	chr11:107994200-108005800	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr11:107994400-108003800	Weak transcription	Fetal Intestine Large	intestine
34	chr11:107994600-108002800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr11:107994600-108009400	Weak transcription	Fetal Brain Female	brain
36	chr11:107994600-108013800	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr11:107994800-108002800	Weak transcription	Fetal Lung	lung
38	chr11:107994800-108002800	Weak transcription	HSMM	muscle
39	chr11:107994800-108009400	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr11:107994800-108011600	Weak transcription	Fetal Intestine Small	intestine
41	chr11:107995000-107998800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr11:107995000-108002200	Weak transcription	Brain Substantia Nigra	brain
43	chr11:107995000-108002800	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr11:107995000-108002800	Weak transcription	Osteobl	bone
45	chr11:107995000-108003800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr11:107995000-108004000	Weak transcription	Primary hematopoietic stem cells	blood
47	chr11:107995000-108004000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr11:107995000-108004000	Weak transcription	NHDF-Ad	bronchial
49	chr11:107995000-108004200	Weak transcription	HUVEC	blood vessel
50	chr11:107995000-108005800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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