Variant report

Variant	rs607569
Chromosome Location	chr11:64632904-64632905
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	11:64538326-64543055..11:64631647-64642645	Hela-S3	cervix:
2	11:64501239-64517861..11:64631647-64642645	H1-hESC	embryonic stem cell:	embryo
3	11:64544826-64559210..11:64631647-64642645	GM12878	blood:
4	11:64523887-64530985..11:64631647-64642645	Hela-S3	cervix:
5	11:64620201-64626490..11:64631647-64642645	Hela-S3	cervix:
6	11:64415880-64426617..11:64631647-64642645	Hela-S3	cervix:
7	11:64530985-64535815..11:64631647-64642645	Hela-S3	cervix:
8	11:64610127-64612855..11:64631647-64642645	Hela-S3	cervix:

Variant related genes	Relation type
ENSG00000269038	Chromatin interaction
ENSG00000269290	Chromatin interaction
ENSG00000171219	Chromatin interaction
ENSG00000068976	Chromatin interaction
ENSG00000110076	Chromatin interaction
ENSG00000110047	Chromatin interaction
ENSG00000068831	Chromatin interaction
ENSG00000168066	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10897533	0.99[ASN][1000 genomes]
rs1211284	0.93[ASN][1000 genomes]
rs12573	0.95[ASN][1000 genomes]
rs12801172	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17146413	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2007521	0.99[ASN][1000 genomes]
rs2077026	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3741391	0.97[ASN][1000 genomes]
rs3893108	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3937000	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41381745	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4930280	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4930281	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4930685	1.00[ASN][1000 genomes]
rs57851864	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs589556	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs602347	0.91[ASN][1000 genomes]
rs620066	0.99[ASN][1000 genomes]
rs621608	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs622611	0.92[ASN][1000 genomes]
rs635722	1.00[ASN][1000 genomes]
rs641623	0.92[ASN][1000 genomes]
rs649208	0.95[ASN][1000 genomes]
rs653225	0.96[ASN][1000 genomes]
rs654580	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs656982	0.89[ASN][1000 genomes]
rs7126744	1.00[ASN][1000 genomes]
rs7926812	1.00[ASN][1000 genomes]
rs7927560	0.97[ASN][1000 genomes]
rs7943238	0.94[ASN][1000 genomes]
rs7944276	0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7952306	0.99[ASN][1000 genomes]
rs7952567	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv528506	chr11:64345448-64701030	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1075 gene(s)	inside rSNPs	diseases
2	nsv897695	chr11:64357072-64701030	Weak transcription Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1075 gene(s)	inside rSNPs	diseases
3	nsv897699	chr11:64447420-64638041	Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
4	nsv897700	chr11:64447420-64701030	Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1071 gene(s)	inside rSNPs	diseases
5	nsv897704	chr11:64584987-64701030	Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1028 gene(s)	inside rSNPs	diseases
6	nsv897705	chr11:64591679-64701030	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1028 gene(s)	inside rSNPs	diseases
7	nsv897706	chr11:64591679-64721908	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1028 gene(s)	inside rSNPs	diseases
8	nsv897707	chr11:64600002-64701030	Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1028 gene(s)	inside rSNPs	diseases
9	nsv897708	chr11:64602757-64695271	Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1028 gene(s)	inside rSNPs	diseases
10	nsv870106	chr11:64610698-64640067	Flanking Active TSS Genic enhancers Enhancers Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	38 gene(s)	inside rSNPs	diseases
11	nsv360	chr11:64632395-64659636	Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1003 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64612600-64639000	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr11:64623200-64633000	Enhancers	Primary hematopoietic stem cells	blood
3	chr11:64625400-64634200	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr11:64626400-64644800	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr11:64627400-64633000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr11:64627600-64633200	Enhancers	Fetal Thymus	thymus
7	chr11:64627800-64633200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr11:64628400-64633200	Enhancers	Right Atrium	heart
9	chr11:64628600-64633200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
10	chr11:64628600-64633200	Enhancers	Brain Substantia Nigra	brain
11	chr11:64628600-64633400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
12	chr11:64628600-64633600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
13	chr11:64628600-64633600	Enhancers	Placenta	Placenta
14	chr11:64628800-64633000	Flanking Active TSS	Primary T cells from cord blood	blood
15	chr11:64628800-64633400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
16	chr11:64629000-64633000	Enhancers	Small Intestine	intestine
17	chr11:64629400-64633000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr11:64629400-64633000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
19	chr11:64629400-64634000	Enhancers	Psoas Muscle	Psoas
20	chr11:64629600-64633000	Enhancers	Sigmoid Colon	Sigmoid Colon
21	chr11:64629600-64633800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr11:64629600-64638600	Enhancers	Left Ventricle	heart
23	chr11:64629800-64633000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr11:64629800-64633000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr11:64629800-64633000	Enhancers	Fetal Brain Female	brain
26	chr11:64629800-64633000	Enhancers	HUVEC	blood vessel
27	chr11:64629800-64633200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr11:64629800-64633200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
29	chr11:64629800-64633200	Enhancers	Placenta Amnion	Placenta Amnion
30	chr11:64629800-64633400	Enhancers	Brain Cingulate Gyrus	brain
31	chr11:64629800-64633400	Enhancers	Lung	lung
32	chr11:64629800-64633800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr11:64629800-64633800	Enhancers	Brain Angular Gyrus	brain
34	chr11:64629800-64634000	Enhancers	Rectal Mucosa Donor 31	rectum
35	chr11:64629800-64634000	Flanking Active TSS	Stomach Smooth Muscle	stomach
36	chr11:64630000-64633000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr11:64630000-64633800	Enhancers	Fetal Heart	heart
38	chr11:64630000-64633800	Enhancers	Stomach Mucosa	stomach
39	chr11:64630200-64633800	Enhancers	Liver	Liver
40	chr11:64630200-64634000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr11:64630400-64633000	Enhancers	HUES6 Cell Line	embryonic stem cell
42	chr11:64630400-64633000	Enhancers	HUES64 Cell Line	embryonic stem cell
43	chr11:64630400-64633000	Enhancers	Ovary	ovary
44	chr11:64630400-64634600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
45	chr11:64630600-64633000	Enhancers	Gastric	stomach
46	chr11:64630600-64633000	Enhancers	Pancreas	Pancrea
47	chr11:64630800-64633200	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr11:64630800-64633200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr11:64630800-64633800	Enhancers	Brain Inferior Temporal Lobe	brain
50	chr11:64631000-64633000	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin

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