Variant report

Variant	rs563344
Chromosome Location	chr11:66420361-66420362
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	chr11:66420097..66424743-chr11:66425989..66430549,5	MCF-7	breast:
2	chr11:66416826..66421657-chr11:66443752..66448212,5	K562	blood:

Variant related genes	Relation type
ENSG00000173914	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs13897	0.86[ASN][1000 genomes]
rs17147749	0.86[ASN][1000 genomes]
rs2290463	0.86[ASN][1000 genomes]
rs3782079	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs477335	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs478807	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs479261	0.82[AMR][1000 genomes]
rs519380	0.88[ASN][1000 genomes]
rs527550	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55662252	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56680801	0.86[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs56848911	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs57206977	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs57220229	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs573673	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs575797	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60084486	0.89[ASN][1000 genomes]
rs60395535	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs623022	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs639938	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs645307	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs648491	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs744465	0.81[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	nsv522277	chr11:66234023-66493825	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
2	nsv897789	chr11:66372390-66634397	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
3	nsv518919	chr11:66409409-66468469	Genic enhancers Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv897790	chr11:66414915-66626234	Transcr. at gene 5' and 3' Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 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	chr11:66407000-66434400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:66409800-66421600	Strong transcription	Primary monocytes fromperipheralblood	blood
3	chr11:66410600-66421200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
4	chr11:66411000-66421600	Strong transcription	HUES6 Cell Line	embryonic stem cell
5	chr11:66411400-66421600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr11:66411600-66420600	Strong transcription	NHLF	lung
7	chr11:66411600-66421200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
8	chr11:66411800-66421000	Strong transcription	Fetal Intestine Large	intestine
9	chr11:66411800-66436200	Strong transcription	Fetal Muscle Trunk	muscle
10	chr11:66411800-66436400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr11:66411800-66442800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr11:66412000-66434400	Strong transcription	Fetal Thymus	thymus
13	chr11:66412000-66438800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr11:66412200-66421200	Strong transcription	HUES48 Cell Line	embryonic stem cell
15	chr11:66412600-66421600	Strong transcription	Rectal Mucosa Donor 29	rectum
16	chr11:66412600-66421800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr11:66412600-66424800	Strong transcription	Monocytes-CD14+_RO01746	blood
18	chr11:66412800-66420600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
19	chr11:66412800-66430600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr11:66412800-66435800	Strong transcription	Thymus	Thymus
21	chr11:66412800-66436800	Strong transcription	Fetal Intestine Small	intestine
22	chr11:66413000-66420600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr11:66413000-66421200	Strong transcription	Muscle Satellite Cultured Cells	--
24	chr11:66413000-66421600	Strong transcription	HUES64 Cell Line	embryonic stem cell
25	chr11:66413000-66423400	Strong transcription	Cortex derived primary cultured neurospheres	brain
26	chr11:66413000-66435800	Strong transcription	Fetal Muscle Leg	muscle
27	chr11:66413000-66436600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr11:66413000-66440400	Strong transcription	Fetal Stomach	stomach
29	chr11:66413000-66442600	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr11:66413400-66421400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr11:66413400-66438400	Strong transcription	Dnd41	blood
32	chr11:66413600-66420600	Strong transcription	GM12878-XiMat	blood
33	chr11:66413600-66420800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr11:66413600-66420800	Strong transcription	HSMM	muscle
35	chr11:66413600-66438400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr11:66413800-66420800	Strong transcription	Sigmoid Colon	Sigmoid Colon
37	chr11:66413800-66422400	Strong transcription	Duodenum Mucosa	Duodenum
38	chr11:66413800-66430400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr11:66414000-66427000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr11:66414200-66425400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr11:66414200-66426200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr11:66414400-66420400	Strong transcription	Primary T cells from cord blood	blood
43	chr11:66414400-66427200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr11:66414600-66421600	Strong transcription	Liver	Liver
45	chr11:66414800-66427000	Weak transcription	Fetal Heart	heart
46	chr11:66414800-66432600	Weak transcription	Aorta	Aorta
47	chr11:66414800-66436000	Weak transcription	Right Ventricle	heart
48	chr11:66414800-66442600	Weak transcription	Small Intestine	intestine
49	chr11:66415000-66438800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr11:66415200-66432200	Weak transcription	Psoas Muscle	Psoas

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