Variant report

Variant	rs503813
Chromosome Location	chr11:65967730-65967731
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:65964002..65966014-chr11:65967353..65969293,2	K562	blood:

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs2430981	1.00[EUR][1000 genomes]
rs515184	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs532509	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7396531	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]

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	esv3335923	chr11:65741698-66175759	Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
2	esv1819302	chr11:65787660-66007018	Active TSS Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
3	esv3407551	chr11:65794503-66158322	Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
4	esv3332923	chr11:65961593-65981589	ZNF genes & repeats Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65929600-65977800	Weak transcription	HSMMtube	muscle
2	chr11:65938400-65978000	Weak transcription	Aorta	Aorta
3	chr11:65940000-65978000	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr11:65940400-65978000	Weak transcription	Esophagus	oesophagus
5	chr11:65944400-65977800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr11:65949800-65977800	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr11:65950200-65978400	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr11:65952400-65967800	Weak transcription	Brain Germinal Matrix	brain
9	chr11:65957000-65978400	Weak transcription	Brain Angular Gyrus	brain
10	chr11:65958800-65977800	Weak transcription	Lung	lung
11	chr11:65958800-65978600	Weak transcription	Pancreas	Pancrea
12	chr11:65958800-65983600	Weak transcription	Small Intestine	intestine
13	chr11:65958800-65989200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr11:65959200-65967800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr11:65959200-65989400	Weak transcription	K562	blood
16	chr11:65959400-65983400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr11:65959600-65968400	Strong transcription	Primary T helper cells fromperipheralblood	blood
18	chr11:65959600-65978400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr11:65959600-65983600	Weak transcription	Colonic Mucosa	Colon
20	chr11:65960200-65968000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr11:65960200-65977800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr11:65960200-65978000	Weak transcription	Right Ventricle	heart
23	chr11:65960200-65984000	Weak transcription	Fetal Heart	heart
24	chr11:65960400-65978000	Weak transcription	Gastric	stomach
25	chr11:65960400-65978000	Weak transcription	HMEC	breast
26	chr11:65960600-65976600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr11:65960600-65980600	Weak transcription	Fetal Kidney	kidney
28	chr11:65960600-65983600	Weak transcription	Fetal Brain Male	brain
29	chr11:65961200-65983600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr11:65961400-65978000	Weak transcription	Duodenum Mucosa	Duodenum
31	chr11:65961400-65978000	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr11:65961400-66011200	Weak transcription	Psoas Muscle	Psoas
33	chr11:65961600-65979000	Weak transcription	Dnd41	blood
34	chr11:65962000-65978000	Weak transcription	Spleen	Spleen
35	chr11:65962200-65970000	Weak transcription	Brain Anterior Caudate	brain
36	chr11:65962200-65983800	Weak transcription	Colon Smooth Muscle	Colon
37	chr11:65962400-65977800	Weak transcription	Placenta	Placenta
38	chr11:65962400-65983600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr11:65962800-65983600	Weak transcription	Brain Cingulate Gyrus	brain
40	chr11:65963000-65977800	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr11:65963000-65984200	Weak transcription	HUVEC	blood vessel
42	chr11:65963400-65976600	Weak transcription	HSMM	muscle
43	chr11:65963400-65977000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr11:65963400-65978000	Weak transcription	Ovary	ovary
45	chr11:65963600-65976600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr11:65963600-65976800	Weak transcription	Liver	Liver
47	chr11:65963600-65977600	Weak transcription	Stomach Smooth Muscle	stomach
48	chr11:65963800-65968600	Weak transcription	NHEK	skin
49	chr11:65963800-65978200	Weak transcription	Left Ventricle	heart
50	chr11:65964000-65978000	Weak transcription	Thymus	Thymus

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