Variant report

Variant	rs12803043
Chromosome Location	chr11:107881088-107881089
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:107859760..107861411-chr11:107880820..107882809,2	K562	blood:
2	chr11:107879617..107881507-chr11:108535769..108537352,2	K562	blood:
3	chr11:107879008..107882817-chr11:107991227..107994837,4	K562	blood:
4	chr11:107858533..107861411-chr11:107880096..107882320,2	K562	blood:
5	chr11:107878949..107881765-chr11:111797372..111799123,2	K562	blood:
6	chr11:107879008..107882104-chr11:107991227..107994837,4	K562	blood:

Variant related genes	Relation type
ENSG00000075239	Chromatin interaction
ENSG00000178105	Chromatin interaction
ENSG00000255467	Chromatin interaction
ENSG00000150764	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10789652	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10890810	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11212486	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11212490	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11212512	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11604711	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11823929	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12270224	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12277368	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12416788	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12418673	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12421527	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12793438	1.00[JPT][hapmap]
rs12796482	1.00[JPT][hapmap]
rs15677	1.00[CEU][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes]
rs17679325	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2271853	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35583347	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3858392	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3908131	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4753827	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56214765	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67456286	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7104942	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7105163	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7106930	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7120705	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7121568	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7122356	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7949655	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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	nsv1039425	chr11:107468681-107895836	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	nsv1049524	chr11:107540937-107954011	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	nsv521771	chr11:107590335-107904646	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv1048938	chr11:107604473-107929950	Flanking Active TSS Active TSS Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	18 gene(s)	inside rSNPs	diseases
6	esv2750980	chr11:107720941-107970986	Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
7	nsv1047984	chr11:107794729-107950746	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
8	nsv1040345	chr11:107824764-107924309	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	9 gene(s)	inside rSNPs	diseases
9	esv3415118	chr11:107844791-107881474	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
10	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

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:107878800-107881200	Active TSS	Rectal Mucosa Donor 29	rectum
2	chr11:107879000-107881200	Active TSS	Breast Myoepithelial Primary Cells	Breast
3	chr11:107879000-107881400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr11:107879000-107885200	Active TSS	GM12878-XiMat	blood
5	chr11:107879200-107881200	Active TSS	H1 Cell Line	embryonic stem cell
6	chr11:107879200-107881200	Active TSS	HUES48 Cell Line	embryonic stem cell
7	chr11:107879200-107881200	Active TSS	Primary hematopoietic stem cells short term culture	blood
8	chr11:107879200-107881200	Active TSS	Fetal Thymus	thymus
9	chr11:107879200-107881200	Active TSS	Hela-S3	cervix
10	chr11:107879200-107881200	Active TSS	HSMMtube	muscle
11	chr11:107879200-107881400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr11:107879200-107881400	Active TSS	Fetal Muscle Leg	muscle
13	chr11:107879200-107881400	Active TSS	Right Ventricle	heart
14	chr11:107879200-107881400	Active TSS	Thymus	Thymus
15	chr11:107879200-107881600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr11:107879200-107881600	Active TSS	Fetal Intestine Small	intestine
17	chr11:107879200-107881600	Active TSS	Psoas Muscle	Psoas
18	chr11:107879200-107881600	Active TSS	NHDF-Ad	bronchial
19	chr11:107879200-107881800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr11:107879200-107881800	Active TSS	HMEC	breast
21	chr11:107879200-107882000	Active TSS	HUES6 Cell Line	embryonic stem cell
22	chr11:107879200-107882000	Active TSS	Fetal Intestine Large	intestine
23	chr11:107879200-107882000	Active TSS	A549	lung
24	chr11:107879200-107882200	Active TSS	ES-I3 Cell Line	embryonic stem cell
25	chr11:107879200-107882200	Active TSS	HUES64 Cell Line	embryonic stem cell
26	chr11:107879200-107882200	Active TSS	Ovary	ovary
27	chr11:107879200-107882400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr11:107879400-107881200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr11:107879400-107881200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr11:107879400-107881400	Active TSS	HSMM	muscle
31	chr11:107879400-107881600	Active TSS	NHLF	lung
32	chr11:107879400-107882400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr11:107879400-107882800	Active TSS	K562	blood
34	chr11:107879600-107881200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
35	chr11:107879600-107881200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr11:107879600-107881400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr11:107879600-107881400	Active TSS	Stomach Mucosa	stomach
38	chr11:107879600-107881800	Active TSS	Aorta	Aorta
39	chr11:107879600-107882400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr11:107880200-107881400	Flanking Active TSS	Primary hematopoietic stem cells	blood
41	chr11:107880200-107882200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr11:107880400-107881200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr11:107880400-107881200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr11:107880400-107881200	Flanking Active TSS	Liver	Liver
45	chr11:107880400-107881400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
46	chr11:107880400-107881400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr11:107880400-107881400	Flanking Active TSS	Fetal Brain Female	brain
48	chr11:107880400-107881600	Flanking Active TSS	Primary B cells from cord blood	blood
49	chr11:107880400-107881600	Flanking Active TSS	Primary T cells from cord blood	blood
50	chr11:107880400-107881600	Flanking Active TSS	Adipose Nuclei	Adipose

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