Variant report

Variant	rs11820972
Chromosome Location	chr11:85747022-85747023
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:85746963..85747700-chr7:56119340..56119935,2	Hela-S3	cervix:
2	chr11:85741083..85743215-chr11:85744719..85747264,4	K562	blood:
3	chr11:85745012..85747754-chr11:85749922..85752779,3	MCF-7	breast:
4	chr11:85744986..85747847-chr11:85984634..85986736,2	K562	blood:
5	chr11:85746383..85749282-chr11:85752081..85754619,3	K562	blood:
6	chr11:85739064..85744454-chr11:85744719..85749528,8	K562	blood:
7	chr11:85743346..85745394-chr11:85746206..85747764,2	K562	blood:

Variant related genes	Relation type
ENSG00000146731	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs11820073	0.85[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11824464	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs11824532	1.00[AMR][1000 genomes]
rs11825354	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs11826206	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11827521	1.00[ASW][hapmap];0.93[LWK][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs11828355	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11828809	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs11828899	0.87[AFR][1000 genomes]
rs28762197	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55873745	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55918324	1.00[AMR][1000 genomes]
rs56012164	1.00[AMR][1000 genomes]
rs57062119	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58070075	1.00[AMR][1000 genomes]
rs58070723	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59034718	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60250801	1.00[AMR][1000 genomes]
rs60953189	1.00[AMR][1000 genomes]
rs61284324	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61676661	1.00[AMR][1000 genomes]
rs6592270	1.00[ASW][hapmap];0.93[LWK][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs7110817	1.00[AMR][1000 genomes]
rs7121487	1.00[AMR][1000 genomes]
rs7123605	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7929743	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7939690	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7948653	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7948822	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035489	chr11:85502953-85778229	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv1053808	chr11:85588919-85757693	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv468769	chr11:85683554-85757589	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv555641	chr11:85683554-85757589	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv898054	chr11:85683554-85772636	Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv468770	chr11:85688209-85751883	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv555642	chr11:85688209-85751883	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv468771	chr11:85688209-85757589	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	nsv468773	chr11:85688209-85757589	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	nsv555643	chr11:85688209-85757589	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
11	nsv468774	chr11:85688209-85775059	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
12	nsv555644	chr11:85688209-85775059	Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
13	esv1829985	chr11:85740319-85789350	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:85731600-85754200	Weak transcription	Brain Germinal Matrix	brain
2	chr11:85733200-85754000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr11:85737000-85752800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr11:85737200-85747800	Weak transcription	Spleen	Spleen
5	chr11:85737200-85751800	Weak transcription	NHLF	lung
6	chr11:85737200-85755200	Weak transcription	Lung	lung
7	chr11:85737200-85755600	Weak transcription	Esophagus	oesophagus
8	chr11:85738400-85752400	Weak transcription	Fetal Kidney	kidney
9	chr11:85738800-85752000	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr11:85739000-85749200	Weak transcription	Fetal Stomach	stomach
11	chr11:85740400-85751800	Weak transcription	Rectal Smooth Muscle	rectum
12	chr11:85740400-85755600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr11:85740600-85750400	Weak transcription	Colonic Mucosa	Colon
14	chr11:85740600-85752600	Weak transcription	NHEK	skin
15	chr11:85740800-85754000	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr11:85741400-85751800	Weak transcription	HMEC	breast
17	chr11:85742000-85752000	Weak transcription	NHDF-Ad	bronchial
18	chr11:85742000-85752200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr11:85742200-85749000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr11:85742200-85750000	Weak transcription	Fetal Muscle Trunk	muscle
21	chr11:85742200-85750000	Weak transcription	Thymus	Thymus
22	chr11:85742200-85751800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr11:85742200-85754000	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr11:85742200-85755000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr11:85742200-85755400	Weak transcription	Aorta	Aorta
26	chr11:85742400-85749200	Weak transcription	Fetal Thymus	thymus
27	chr11:85742400-85751800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr11:85742400-85752000	Weak transcription	Stomach Smooth Muscle	stomach
29	chr11:85742400-85752400	Weak transcription	Primary hematopoietic stem cells	blood
30	chr11:85742400-85752400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr11:85742400-85752800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr11:85742600-85747800	Enhancers	Primary T helper cells PMA-I stimulated	--
33	chr11:85742600-85749200	Weak transcription	Osteobl	bone
34	chr11:85742600-85751800	Weak transcription	Fetal Lung	lung
35	chr11:85742600-85751800	Weak transcription	Monocytes-CD14+_RO01746	blood
36	chr11:85742600-85752400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr11:85742600-85752800	Weak transcription	Primary B cells from peripheral blood	blood
38	chr11:85742600-85752800	Weak transcription	Dnd41	blood
39	chr11:85742600-85753800	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr11:85742600-85754000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr11:85742600-85755600	Weak transcription	Placenta	Placenta
42	chr11:85742800-85747200	Weak transcription	Primary monocytes fromperipheralblood	blood
43	chr11:85742800-85748400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr11:85742800-85758400	Weak transcription	Fetal Intestine Large	intestine
45	chr11:85743000-85747400	Weak transcription	NH-A	brain
46	chr11:85743000-85747800	Enhancers	Brain Cingulate Gyrus	brain
47	chr11:85743000-85752600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr11:85743600-85747800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr11:85744000-85747800	Enhancers	Pancreatic Islets	Pancreatic Islet
50	chr11:85744600-85748800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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