Variant report

Variant	rs6589030
Chromosome Location	chr11:108606188-108606189
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:108599910..108603583-chr11:108604628..108606555,4	K562	blood:
2	chr11:108599709..108601627-chr11:108604162..108606701,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000254730	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11212756	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12279185	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs12281684	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73554972	0.89[AFR][1000 genomes]
rs7929960	0.89[AMR][1000 genomes]
rs7934946	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7939884	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7948143	1.00[AMR][1000 genomes]
rs7951395	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1052254	chr11:108122683-108845008	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv541164	chr11:108122683-108845008	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv898386	chr11:108409442-108831875	Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv898388	chr11:108440814-108724639	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv832264	chr11:108449613-108623720	ZNF genes & repeats Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:108578800-108614400	Weak transcription	Stomach Smooth Muscle	stomach
2	chr11:108581600-108626600	Weak transcription	Rectal Smooth Muscle	rectum
3	chr11:108581800-108609800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr11:108581800-108610800	Weak transcription	Thymus	Thymus
5	chr11:108581800-108611400	Weak transcription	Brain Substantia Nigra	brain
6	chr11:108581800-108616200	Weak transcription	Esophagus	oesophagus
7	chr11:108583000-108610600	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr11:108583200-108611600	Weak transcription	Fetal Lung	lung
9	chr11:108587200-108608800	Weak transcription	Fetal Stomach	stomach
10	chr11:108589000-108611800	Weak transcription	Fetal Intestine Large	intestine
11	chr11:108591400-108610600	Weak transcription	Fetal Muscle Leg	muscle
12	chr11:108592000-108620000	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr11:108594000-108612800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr11:108594200-108608400	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr11:108594200-108611400	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr11:108594200-108615400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr11:108594400-108613600	Weak transcription	HSMMtube	muscle
18	chr11:108594400-108625400	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr11:108594800-108607600	Weak transcription	Duodenum Mucosa	Duodenum
20	chr11:108596400-108610800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr11:108596400-108610800	Weak transcription	Dnd41	blood
22	chr11:108596400-108614400	Weak transcription	Right Ventricle	heart
23	chr11:108596400-108621000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr11:108596600-108607200	Weak transcription	Liver	Liver
25	chr11:108600600-108609600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr11:108603400-108607200	Weak transcription	Aorta	Aorta
27	chr11:108603400-108611200	Weak transcription	Fetal Muscle Trunk	muscle
28	chr11:108603600-108607200	Weak transcription	Primary B cells from cord blood	blood
29	chr11:108603600-108607200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr11:108603600-108607400	Weak transcription	Lung	lung
31	chr11:108603600-108610600	Weak transcription	Gastric	stomach
32	chr11:108603600-108617600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr11:108604000-108606200	Enhancers	HUVEC	blood vessel
34	chr11:108604400-108608000	Weak transcription	Fetal Brain Female	brain
35	chr11:108604400-108611200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr11:108604600-108606200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
37	chr11:108604600-108607400	Weak transcription	Ovary	ovary
38	chr11:108604600-108609400	Weak transcription	Psoas Muscle	Psoas
39	chr11:108604600-108611800	Weak transcription	Fetal Intestine Small	intestine
40	chr11:108604600-108616000	Weak transcription	Right Atrium	heart
41	chr11:108604600-108625600	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr11:108604600-108625800	Weak transcription	Primary T cells from cord blood	blood
43	chr11:108604800-108607400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr11:108604800-108610200	Weak transcription	Primary T cells fromperipheralblood	blood
45	chr11:108604800-108610400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
46	chr11:108604800-108610600	Weak transcription	Primary B cells from peripheral blood	blood
47	chr11:108604800-108627800	Weak transcription	Left Ventricle	heart
48	chr11:108605000-108606200	Enhancers	GM12878-XiMat	blood
49	chr11:108605000-108608600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr11:108605000-108609400	Weak transcription	NH-A	brain

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