Variant report

Variant	rs653056
Chromosome Location	chr11:68203625-68203626
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:68192944..68194475-chr11:68202719..68205051,2	K562	blood:
2	chr11:68198542..68202152-chr11:68203500..68206057,4	K562	blood:
3	chr11:68199257..68202152-chr11:68202690..68206057,4	K562	blood:
4	chr11:68200745..68203688-chr11:68203810..68206580,3	MCF-7	breast:
5	chr11:68192236..68194475-chr11:68203551..68205457,2	K562	blood:

Variant related genes	Relation type
ENSG00000162337	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1785493	0.82[EUR][1000 genomes]
rs23691	0.87[EUR][1000 genomes]
rs314750	0.87[EUR][1000 genomes]
rs314751	0.87[EUR][1000 genomes]
rs3853616	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs471966	0.88[EUR][1000 genomes]
rs497261	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs525592	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs554734	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs556442	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs599083	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs599301	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs603129	0.86[EUR][1000 genomes]
rs607887	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs608343	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs630225	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs638076	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs683978	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs689075	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7950129	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs901823	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3347272	chr11:67969427-68218997	Strong transcription Flanking Active TSS Genic enhancers Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
2	nsv897857	chr11:68056770-68231240	Enhancers Genic enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	nsv897858	chr11:68077238-68293545	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
4	nsv897859	chr11:68102000-68231240	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv897860	chr11:68102000-68293545	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
6	nsv1047532	chr11:68103330-68239242	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	nsv541082	chr11:68103330-68239242	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
8	nsv1039671	chr11:68120571-68206630	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv1036561	chr11:68123135-68315685	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
10	nsv897862	chr11:68129606-68236389	Strong transcription Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
11	nsv469965	chr11:68140781-68217420	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
12	nsv555285	chr11:68144283-68231240	Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
13	nsv468618	chr11:68171013-68231240	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
14	nsv897863	chr11:68186392-68251460	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Genic enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
15	nsv555286	chr11:68192346-68207287	Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
16	nsv520841	chr11:68199008-68217420	Weak transcription Bivalent Enhancer Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
17	esv1792339	chr11:68199008-68299226	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
18	esv1803199	chr11:68199008-68299226	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
19	esv1842405	chr11:68199008-68299226	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
20	nsv526402	chr11:68201295-68217420	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:68176000-68210400	Strong transcription	HepG2	liver
2	chr11:68182000-68204400	Strong transcription	Stomach Smooth Muscle	stomach
3	chr11:68182800-68222200	Weak transcription	Small Intestine	intestine
4	chr11:68197400-68204000	Strong transcription	Adipose Nuclei	Adipose
5	chr11:68197400-68204000	Weak transcription	HMEC	breast
6	chr11:68197400-68204200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
7	chr11:68197400-68204200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr11:68197400-68204400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr11:68197400-68204600	Weak transcription	Psoas Muscle	Psoas
10	chr11:68197400-68204600	Weak transcription	NH-A	brain
11	chr11:68197400-68204600	Weak transcription	NHLF	lung
12	chr11:68197400-68207600	Weak transcription	Primary B cells from cord blood	blood
13	chr11:68197400-68208000	Strong transcription	Cortex derived primary cultured neurospheres	brain
14	chr11:68197400-68208800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr11:68197400-68210600	Strong transcription	Dnd41	blood
16	chr11:68197400-68214400	Strong transcription	Fetal Intestine Small	intestine
17	chr11:68197400-68214600	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr11:68197400-68214800	Weak transcription	Brain Cingulate Gyrus	brain
19	chr11:68197400-68216400	Strong transcription	Rectal Mucosa Donor 29	rectum
20	chr11:68197400-68217800	Strong transcription	Liver	Liver
21	chr11:68197600-68203800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
22	chr11:68197600-68204200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr11:68197600-68204200	Strong transcription	Duodenum Mucosa	Duodenum
24	chr11:68197600-68204400	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr11:68197600-68204400	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr11:68197600-68204400	Weak transcription	Stomach Mucosa	stomach
27	chr11:68197600-68204600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr11:68197600-68204600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr11:68197600-68204600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr11:68197600-68204600	Strong transcription	Duodenum Smooth Muscle	Duodenum
31	chr11:68197600-68204600	Strong transcription	Pancreas	Pancrea
32	chr11:68197600-68204800	Weak transcription	Primary hematopoietic stem cells	blood
33	chr11:68197600-68204800	Weak transcription	Osteobl	bone
34	chr11:68197600-68206200	Weak transcription	Fetal Kidney	kidney
35	chr11:68197600-68207000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr11:68197600-68207400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr11:68197600-68207600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr11:68197600-68208400	Strong transcription	Fetal Brain Female	brain
39	chr11:68197600-68210800	Strong transcription	Brain Germinal Matrix	brain
40	chr11:68197600-68217800	Strong transcription	Fetal Intestine Large	intestine
41	chr11:68197600-68227000	Weak transcription	Brain Hippocampus Middle	brain
42	chr11:68197800-68204000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr11:68197800-68204600	Strong transcription	Fetal Stomach	stomach
44	chr11:68197800-68204600	Strong transcription	Gastric	stomach
45	chr11:68197800-68206400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr11:68197800-68206600	Strong transcription	Ovary	ovary
47	chr11:68197800-68207000	Strong transcription	Aorta	Aorta
48	chr11:68197800-68208000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr11:68197800-68208800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr11:68198200-68209600	Strong transcription	Esophagus	oesophagus

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