Variant report

Variant	rs680830
Chromosome Location	chr11:107417616-107417617
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	chr11:107411487..107414024-chr11:107415547..107418986,3	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10502095	1.00[EUR][1000 genomes]
rs11212247	1.00[EUR][1000 genomes]
rs11212249	1.00[EUR][1000 genomes]
rs11212252	1.00[EUR][1000 genomes]
rs11212267	1.00[EUR][1000 genomes]
rs1150195	1.00[YRI][hapmap]
rs12285786	1.00[EUR][1000 genomes]
rs12293353	1.00[EUR][1000 genomes]
rs12421850	1.00[EUR][1000 genomes]
rs17107135	1.00[EUR][1000 genomes]
rs478625	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs509186	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs529552	1.00[EUR][1000 genomes]
rs55928933	1.00[EUR][1000 genomes]
rs564837	1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs590334	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs602435	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61200975	1.00[EUR][1000 genomes]
rs617109	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs633192	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7121279	1.00[EUR][1000 genomes]
rs7123777	1.00[EUR][1000 genomes]
rs7928774	1.00[EUR][1000 genomes]
rs9943533	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv898365	chr11:106944975-107430300	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv898366	chr11:106944975-107433835	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv898367	chr11:106944975-107443420	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv898369	chr11:106958304-107443420	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv898370	chr11:107027991-107430300	Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv898372	chr11:107049968-107433835	Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv1038368	chr11:107116577-107664181	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
8	nsv541163	chr11:107116577-107664181	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
9	nsv898373	chr11:107124903-107433835	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv556376	chr11:107250851-107486598	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
11	nsv898376	chr11:107299631-107443420	Weak transcription Active TSS Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	nsv533794	chr11:107349817-108093259	Bivalent Enhancer Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:107370000-107433800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr11:107371200-107421200	Weak transcription	Right Ventricle	heart
3	chr11:107372000-107435600	Weak transcription	Colonic Mucosa	Colon
4	chr11:107372800-107434600	Weak transcription	Placenta	Placenta
5	chr11:107373000-107421000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr11:107373000-107421400	Weak transcription	Brain Germinal Matrix	brain
7	chr11:107373200-107421000	Weak transcription	Spleen	Spleen
8	chr11:107373200-107423200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr11:107376000-107421000	Weak transcription	Thymus	Thymus
10	chr11:107376600-107434600	Weak transcription	Lung	lung
11	chr11:107376800-107421000	Weak transcription	Aorta	Aorta
12	chr11:107376800-107434600	Weak transcription	Psoas Muscle	Psoas
13	chr11:107377000-107432600	Weak transcription	K562	blood
14	chr11:107378600-107433800	Weak transcription	Fetal Kidney	kidney
15	chr11:107382000-107434200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr11:107389800-107434600	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr11:107389800-107435600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr11:107390000-107421000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr11:107390000-107423000	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr11:107390600-107418800	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr11:107394400-107421000	Weak transcription	Fetal Stomach	stomach
22	chr11:107395200-107431800	Weak transcription	A549	lung
23	chr11:107396600-107418800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr11:107399800-107435600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr11:107400800-107418600	Weak transcription	Fetal Brain Male	brain
26	chr11:107401200-107434200	Weak transcription	Fetal Brain Female	brain
27	chr11:107402600-107418000	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr11:107402600-107430000	Weak transcription	Colon Smooth Muscle	Colon
29	chr11:107403000-107434600	Weak transcription	Fetal Thymus	thymus
30	chr11:107403200-107419200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr11:107403200-107421200	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr11:107406400-107427800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr11:107406800-107423200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr11:107406800-107433200	Weak transcription	HSMMtube	muscle
35	chr11:107407200-107434400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr11:107407400-107420200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr11:107407600-107420200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr11:107407600-107421200	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr11:107407800-107418000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr11:107407800-107418400	Weak transcription	Duodenum Mucosa	Duodenum
41	chr11:107407800-107418600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr11:107407800-107418600	Weak transcription	Fetal Muscle Trunk	muscle
43	chr11:107407800-107418800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr11:107407800-107418800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr11:107407800-107421200	Weak transcription	Fetal Intestine Small	intestine
46	chr11:107407800-107423800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr11:107407800-107433800	Weak transcription	Rectal Smooth Muscle	rectum
48	chr11:107408000-107420800	Weak transcription	Left Ventricle	heart
49	chr11:107408000-107421000	Weak transcription	Esophagus	oesophagus
50	chr11:107408000-107434600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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