Variant report

Variant	rs116068042
Chromosome Location	chr11:68201316-68201317
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:61)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:68201164-68201600	HepG2	liver:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:68201305-68201355	RPTEC	kidney:	n/a
2	chr11:68201305-68201355	GM12891	blood:	n/a
3	chr11:68201305-68201355	AG10803	skin:	n/a
4	chr11:68201305-68201355	HCF	heart:	n/a
5	chr11:68201305-68201355	SK-N-MC	brain:	n/a
6	chr11:68201305-68201355	SK-N-SH_RA	brain:	n/a
7	chr11:68201305-68201355	MCF10A-Er-Src	breast:	n/a
8	chr11:68201305-68201355	ECC-1	luminal epithelium:	n/a
9	chr11:68201305-68201355	SKMC	muscle:	n/a
10	chr11:68201305-68201355	ovcar-3	ovarian:	n/a
11	chr11:68201305-68201355	AG04450	lung:	fetal
12	chr11:68201305-68201355	PrEC	prostate:	n/a
13	chr11:68201305-68201355	HMEC	breast:	n/a
14	chr11:68201305-68201355	T-47D	breast:	n/a
15	chr11:68201305-68201355	HIPEpiC	eye:	n/a
16	chr11:68201305-68201355	K562	blood:	n/a
17	chr11:68201305-68201355	HCPEpiC	choroid plexus:	n/a
18	chr11:68201305-68201355	AG09319	gingival:	n/a
19	chr11:68201305-68201355	AG04449	skin:	fetal
20	chr11:68201305-68201355	HCT-116	colon:	n/a
21	chr11:68201305-68201355	SAEC	small airway:	n/a
22	chr11:68201305-68201355	NT2-D1	testis:	n/a
23	chr11:68201305-68201355	PFSK-1	brain:	n/a
24	chr11:68201305-68201355	HL-60	blood:	n/a
25	chr11:68201305-68201355	HPAEpiC	pulmonary alveolar:	n/a
26	chr11:68201305-68201355	ProgFib	skin:	n/a
27	chr11:68201305-68201355	GM19239	blood:	n/a
28	chr11:68201305-68201355	HCM	heart:	n/a
29	chr11:68201305-68201355	Caco-2	colon:	n/a
30	chr11:68201305-68201355	HRE	kidney:	n/a
31	chr11:68201305-68201355	A549	lung:	n/a
32	chr11:68201305-68201355	HRPEpiC	eye:	n/a
33	chr11:68201305-68201355	AG09309	skin:	n/a
34	chr11:68201305-68201355	BJ	skin:	n/a
35	chr11:68201305-68201355	HEK293	kidney:	embryo
36	chr11:68201305-68201355	H1-hESC	embryonic stem cell:	embryo
37	chr11:68201305-68201355	AoSMC	blood vessel:	n/a
38	chr11:68201305-68201355	GM06990	blood:	n/a
39	chr11:68201305-68201355	IMR90	lung:	fetal
40	chr11:68201305-68201355	NHBE	bronchial:	n/a
41	chr11:68201305-68201355	U87	brain:	n/a
42	chr11:68201305-68201355	HepG2	liver:	n/a
43	chr11:68201305-68201355	HUVEC	blood vessel:	n/a
44	chr11:68201305-68201355	BE2_C	brain:	n/a
45	chr11:68201305-68201355	HEEpiC	esophagus:	n/a
46	chr11:68201305-68201355	NB4	blood:	n/a
47	chr11:68201305-68201355	HAEpiC	amniotic membrane:	n/a
48	chr11:68201305-68201355	Jurkat	blood:	n/a
49	chr11:68201305-68201355	Hepatocyte	liver:	n/a
50	chr11:68201305-68201355	Hela-S3	cervix:	n/a

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:68198567..68200565-chr11:68200854..68203104,2	K562	blood:
2	chr11:68198542..68202152-chr11:68203500..68206057,4	K562	blood:
3	chr11:68200745..68203688-chr11:68203810..68206580,3	MCF-7	breast:
4	chr11:68189170..68193221-chr11:68199268..68202860,4	MCF-7	breast:
5	chr11:68194684..68197011-chr11:68198113..68201482,3	K562	blood:
6	chr11:68199257..68202152-chr11:68202690..68206057,4	K562	blood:

No data

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

Extended variants
information (count: 20 )
Associated
traits (count: 0)

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	chr11:68197400-68201800	Strong transcription	H1 Cell Line	embryonic stem cell
5	chr11:68197400-68203600	Weak transcription	K562	blood
6	chr11:68197400-68204000	Strong transcription	Adipose Nuclei	Adipose
7	chr11:68197400-68204000	Weak transcription	HMEC	breast
8	chr11:68197400-68204200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
9	chr11:68197400-68204200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr11:68197400-68204400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr11:68197400-68204600	Weak transcription	Psoas Muscle	Psoas
12	chr11:68197400-68204600	Weak transcription	NH-A	brain
13	chr11:68197400-68204600	Weak transcription	NHLF	lung
14	chr11:68197400-68207600	Weak transcription	Primary B cells from cord blood	blood
15	chr11:68197400-68208000	Strong transcription	Cortex derived primary cultured neurospheres	brain
16	chr11:68197400-68208800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr11:68197400-68210600	Strong transcription	Dnd41	blood
18	chr11:68197400-68214400	Strong transcription	Fetal Intestine Small	intestine
19	chr11:68197400-68214600	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr11:68197400-68214800	Weak transcription	Brain Cingulate Gyrus	brain
21	chr11:68197400-68216400	Strong transcription	Rectal Mucosa Donor 29	rectum
22	chr11:68197400-68217800	Strong transcription	Liver	Liver
23	chr11:68197600-68203000	Strong transcription	HUES6 Cell Line	embryonic stem cell
24	chr11:68197600-68203200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr11:68197600-68203400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr11:68197600-68203600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr11:68197600-68203800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
28	chr11:68197600-68204200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr11:68197600-68204200	Strong transcription	Duodenum Mucosa	Duodenum
30	chr11:68197600-68204400	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr11:68197600-68204400	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr11:68197600-68204400	Weak transcription	Stomach Mucosa	stomach
33	chr11:68197600-68204600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr11:68197600-68204600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr11:68197600-68204600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr11:68197600-68204600	Strong transcription	Duodenum Smooth Muscle	Duodenum
37	chr11:68197600-68204600	Strong transcription	Pancreas	Pancrea
38	chr11:68197600-68204800	Weak transcription	Primary hematopoietic stem cells	blood
39	chr11:68197600-68204800	Weak transcription	Osteobl	bone
40	chr11:68197600-68206200	Weak transcription	Fetal Kidney	kidney
41	chr11:68197600-68207000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr11:68197600-68207400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr11:68197600-68207600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr11:68197600-68208400	Strong transcription	Fetal Brain Female	brain
45	chr11:68197600-68210800	Strong transcription	Brain Germinal Matrix	brain
46	chr11:68197600-68217800	Strong transcription	Fetal Intestine Large	intestine
47	chr11:68197600-68227000	Weak transcription	Brain Hippocampus Middle	brain
48	chr11:68197800-68204000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr11:68197800-68204600	Strong transcription	Fetal Stomach	stomach
50	chr11:68197800-68204600	Strong transcription	Gastric	stomach

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