Variant report

Variant	rs649208
Chromosome Location	chr11:64633935-64633936
allele	A/C
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	chr11:64633401..64635830-chr11:64781418..64782990,2	MCF-7	breast:
7	11:64415880-64426617..11:64631647-64642645	Hela-S3	cervix:
8	11:64530985-64535815..11:64631647-64642645	Hela-S3	cervix:
9	11:64610127-64612855..11:64631647-64642645	Hela-S3	cervix:

Variant related genes	Relation type
ENSG00000273003	Chromatin interaction
ENSG00000110076	Chromatin interaction
ENSG00000269290	Chromatin interaction
ENSG00000213465	Chromatin interaction
ENSG00000068831	Chromatin interaction
ENSG00000068976	Chromatin interaction
ENSG00000168066	Chromatin interaction
ENSG00000171219	Chromatin interaction
ENSG00000110047	Chromatin interaction
ENSG00000269038	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	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1211284	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12573	0.90[ASN][1000 genomes]
rs12801172	0.88[ASN][1000 genomes]
rs17146413	0.90[ASN][1000 genomes]
rs2007521	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2077026	0.87[ASN][1000 genomes]
rs3741391	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3893108	0.95[ASN][1000 genomes]
rs3937000	0.95[ASN][1000 genomes]
rs41381745	0.90[ASN][1000 genomes]
rs4930280	0.93[ASN][1000 genomes]
rs4930281	0.95[ASN][1000 genomes]
rs4930685	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57851864	0.88[ASN][1000 genomes]
rs589556	0.88[ASN][1000 genomes]
rs602347	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs607569	0.95[ASN][1000 genomes]
rs620066	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs621608	0.87[ASN][1000 genomes]
rs622611	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs635722	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs641623	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs653225	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs654580	0.88[ASN][1000 genomes]
rs656982	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7126744	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7926812	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7927560	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7943238	0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7944276	0.85[ASN][1000 genomes]
rs7952306	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7952567	0.93[EUR][1000 genomes];0.95[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	chr11:64625400-64634200	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr11:64626400-64644800	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr11:64629400-64634000	Enhancers	Psoas Muscle	Psoas
5	chr11:64629600-64638600	Enhancers	Left Ventricle	heart
6	chr11:64629800-64634000	Enhancers	Rectal Mucosa Donor 31	rectum
7	chr11:64629800-64634000	Flanking Active TSS	Stomach Smooth Muscle	stomach
8	chr11:64630200-64634000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr11:64630400-64634600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
10	chr11:64631000-64636200	Genic enhancers	Thymus	Thymus
11	chr11:64631200-64634000	Enhancers	Adipose Nuclei	Adipose
12	chr11:64631600-64634400	Enhancers	A549	lung
13	chr11:64631600-64636000	Weak transcription	Dnd41	blood
14	chr11:64631600-64639200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr11:64631600-64644400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr11:64631800-64634000	Enhancers	Brain Hippocampus Middle	brain
17	chr11:64631800-64634400	Genic enhancers	Fetal Intestine Small	intestine
18	chr11:64631800-64637000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr11:64632000-64634000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr11:64632000-64634000	Enhancers	NH-A	brain
21	chr11:64632000-64635600	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr11:64632000-64639200	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr11:64632200-64644200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr11:64632400-64637000	Weak transcription	HepG2	liver
25	chr11:64632400-64638400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr11:64632400-64640600	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr11:64632800-64634000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr11:64632800-64634000	Genic enhancers	Fetal Lung	lung
29	chr11:64632800-64635000	Enhancers	Fetal Muscle Trunk	muscle
30	chr11:64632800-64635200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr11:64632800-64635800	Genic enhancers	NHEK	skin
32	chr11:64632800-64636000	Genic enhancers	Muscle Satellite Cultured Cells	--
33	chr11:64632800-64636200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
34	chr11:64632800-64636600	Enhancers	Right Ventricle	heart
35	chr11:64632800-64637000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr11:64632800-64637400	Genic enhancers	Fetal Intestine Large	intestine
37	chr11:64633000-64634000	Enhancers	Colonic Mucosa	Colon
38	chr11:64633000-64634000	Enhancers	HSMM	muscle
39	chr11:64633000-64634200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
40	chr11:64633000-64634400	Enhancers	Colon Smooth Muscle	Colon
41	chr11:64633000-64634600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr11:64633000-64634600	Enhancers	Skeletal Muscle Female	skeletal muscle
43	chr11:64633000-64635000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr11:64633000-64635200	Weak transcription	Fetal Brain Female	brain
45	chr11:64633000-64635200	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr11:64633000-64635200	Weak transcription	HUVEC	blood vessel
47	chr11:64633000-64635400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr11:64633000-64635400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr11:64633000-64635400	Enhancers	Skeletal Muscle Male	skeletal muscle
50	chr11:64633000-64635600	Weak transcription	Hela-S3	cervix

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