Variant report

Variant	rs3867142
Chromosome Location	chr11:68198289-68198290
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:68188525..68191371-chr11:68196102..68200184,3	K562	blood:
2	chr11:68194684..68197011-chr11:68198113..68201482,3	K562	blood:
3	chr11:68182756..68184397-chr11:68198017..68199878,2	MCF-7	breast:

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs11228195	1.00[EUR][1000 genomes]
rs11824970	1.00[EUR][1000 genomes]
rs11828144	1.00[EUR][1000 genomes]
rs12273064	1.00[EUR][1000 genomes]
rs12276515	1.00[EUR][1000 genomes]
rs12280773	1.00[EUR][1000 genomes]
rs12280982	1.00[EUR][1000 genomes]
rs12285801	1.00[EUR][1000 genomes]
rs12294855	1.00[EUR][1000 genomes]
rs2017727	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2155729	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28369501	1.00[EUR][1000 genomes]
rs28670727	1.00[EUR][1000 genomes]
rs314747	1.00[EUR][1000 genomes]
rs495137	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs55859249	1.00[EUR][1000 genomes]
rs55932241	1.00[EUR][1000 genomes]
rs56014941	1.00[EUR][1000 genomes]
rs56715418	1.00[EUR][1000 genomes]
rs57488954	1.00[EUR][1000 genomes]
rs57557564	1.00[EUR][1000 genomes]
rs57669893	1.00[EUR][1000 genomes]
rs59876914	1.00[EUR][1000 genomes]
rs60170908	1.00[EUR][1000 genomes]
rs60487218	1.00[EUR][1000 genomes]
rs7120407	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7121045	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73511095	1.00[EUR][1000 genomes]
rs754418	1.00[EUR][1000 genomes]
rs7936958	1.00[EUR][1000 genomes]
rs7937163	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 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

No data

Chromatin state (count:101 , 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	chr11:68192200-68199600	Strong transcription	Hela-S3	cervix
5	chr11:68195400-68198800	Strong transcription	iPS-15b Cell Line	embryonic stem cell
6	chr11:68195600-68198400	ZNF genes & repeats	GM12878-XiMat	blood
7	chr11:68196600-68198400	Strong transcription	Placenta Amnion	Placenta Amnion
8	chr11:68196600-68198600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr11:68196600-68198600	ZNF genes & repeats	Lung	lung
10	chr11:68196800-68198600	ZNF genes & repeats	Brain Angular Gyrus	brain
11	chr11:68196800-68198600	ZNF genes & repeats	HSMM	muscle
12	chr11:68197400-68198400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr11:68197400-68198400	Weak transcription	Thymus	Thymus
14	chr11:68197400-68198600	Strong transcription	HUES48 Cell Line	embryonic stem cell
15	chr11:68197400-68198600	Strong transcription	Fetal Brain Male	brain
16	chr11:68197400-68198800	Weak transcription	Placenta	Placenta
17	chr11:68197400-68199600	Weak transcription	Fetal Heart	heart
18	chr11:68197400-68200200	Weak transcription	Rectal Smooth Muscle	rectum
19	chr11:68197400-68200600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr11:68197400-68201000	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr11:68197400-68201800	Strong transcription	H1 Cell Line	embryonic stem cell
22	chr11:68197400-68203600	Weak transcription	K562	blood
23	chr11:68197400-68204000	Strong transcription	Adipose Nuclei	Adipose
24	chr11:68197400-68204000	Weak transcription	HMEC	breast
25	chr11:68197400-68204200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
26	chr11:68197400-68204200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr11:68197400-68204400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr11:68197400-68204600	Weak transcription	Psoas Muscle	Psoas
29	chr11:68197400-68204600	Weak transcription	NH-A	brain
30	chr11:68197400-68204600	Weak transcription	NHLF	lung
31	chr11:68197400-68207600	Weak transcription	Primary B cells from cord blood	blood
32	chr11:68197400-68208000	Strong transcription	Cortex derived primary cultured neurospheres	brain
33	chr11:68197400-68208800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr11:68197400-68210600	Strong transcription	Dnd41	blood
35	chr11:68197400-68214400	Strong transcription	Fetal Intestine Small	intestine
36	chr11:68197400-68214600	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr11:68197400-68214800	Weak transcription	Brain Cingulate Gyrus	brain
38	chr11:68197400-68216400	Strong transcription	Rectal Mucosa Donor 29	rectum
39	chr11:68197400-68217800	Strong transcription	Liver	Liver
40	chr11:68197600-68198400	Weak transcription	Brain Substantia Nigra	brain
41	chr11:68197600-68198400	Strong transcription	Fetal Muscle Trunk	muscle
42	chr11:68197600-68198600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr11:68197600-68198600	Strong transcription	HUES64 Cell Line	embryonic stem cell
44	chr11:68197600-68198600	Strong transcription	Left Ventricle	heart
45	chr11:68197600-68199000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr11:68197600-68199000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr11:68197600-68199200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr11:68197600-68199400	Weak transcription	Colon Smooth Muscle	Colon
49	chr11:68197600-68199400	Strong transcription	Skeletal Muscle Male	skeletal muscle
50	chr11:68197600-68199600	Strong transcription	Primary T cells from cord blood	blood

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