Variant report

Variant	rs2242340
Chromosome Location	chr11:68214119-68214120
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:68213811-68215176	HepG2	liver:	n/a	n/a
2	POLR2A	chr11:68214103-68214332	HUVEC	blood vessel:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:68213038..68215869-chr11:68227703..68229994,2	K562	blood:
2	chr11:68206590..68210286-chr11:68212679..68215708,3	K562	blood:
3	chr11:68204961..68210848-chr11:68212670..68216087,6	K562	blood:

Variant related genes	Relation type
LRP5	TF binding region
ENSG00000162337	Chromatin interaction
ENSG00000110075	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11228270	1.00[YRI][hapmap]
rs11228271	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[EUR][1000 genomes]
rs11228296	1.00[CEU][hapmap]
rs12363572	1.00[CEU][hapmap]
rs1996	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs3781579	0.80[EUR][1000 genomes]
rs7123591	1.00[CEU][hapmap]
rs73504493	0.84[EUR][1000 genomes]
rs73516825	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 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	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:68182800-68222200	Weak transcription	Small Intestine	intestine
2	chr11:68197400-68214400	Strong transcription	Fetal Intestine Small	intestine
3	chr11:68197400-68214600	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr11:68197400-68214800	Weak transcription	Brain Cingulate Gyrus	brain
5	chr11:68197400-68216400	Strong transcription	Rectal Mucosa Donor 29	rectum
6	chr11:68197400-68217800	Strong transcription	Liver	Liver
7	chr11:68197600-68217800	Strong transcription	Fetal Intestine Large	intestine
8	chr11:68197600-68227000	Weak transcription	Brain Hippocampus Middle	brain
9	chr11:68198600-68215000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr11:68198800-68227000	Weak transcription	Brain Anterior Caudate	brain
11	chr11:68201000-68227400	Weak transcription	Fetal Brain Male	brain
12	chr11:68201600-68218800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr11:68205400-68218000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
14	chr11:68205600-68215200	Weak transcription	K562	blood
15	chr11:68205600-68215400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr11:68205800-68215800	Weak transcription	HMEC	breast
17	chr11:68206000-68214600	Strong transcription	Lung	lung
18	chr11:68206800-68214400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr11:68206800-68227200	Weak transcription	Fetal Kidney	kidney
20	chr11:68207000-68214400	Weak transcription	Stomach Mucosa	stomach
21	chr11:68207000-68214800	Weak transcription	Aorta	Aorta
22	chr11:68207000-68227400	Weak transcription	Brain Substantia Nigra	brain
23	chr11:68207200-68214400	Weak transcription	Fetal Thymus	thymus
24	chr11:68207200-68214600	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr11:68208000-68215600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr11:68208000-68227200	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr11:68208200-68214400	Weak transcription	Hela-S3	cervix
28	chr11:68209200-68214800	Weak transcription	Spleen	Spleen
29	chr11:68209400-68215000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr11:68209600-68215200	Weak transcription	GM12878-XiMat	blood
31	chr11:68209800-68214400	Weak transcription	Fetal Heart	heart
32	chr11:68209800-68218400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr11:68209800-68220200	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr11:68209800-68221200	Weak transcription	NHLF	lung
35	chr11:68209800-68222200	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr11:68209800-68222800	Weak transcription	Placenta	Placenta
37	chr11:68210000-68214400	Strong transcription	Fetal Stomach	stomach
38	chr11:68210000-68222600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr11:68210000-68223200	Weak transcription	Primary hematopoietic stem cells	blood
40	chr11:68210200-68215600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr11:68210200-68217400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr11:68210400-68214200	Weak transcription	HepG2	liver
43	chr11:68210400-68214400	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr11:68210400-68214400	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr11:68210400-68214600	Weak transcription	Primary B cells from peripheral blood	blood
46	chr11:68210400-68214600	Weak transcription	Fetal Lung	lung
47	chr11:68210400-68215000	Weak transcription	Right Ventricle	heart
48	chr11:68210400-68222200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
49	chr11:68210600-68214600	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr11:68210600-68215000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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