Variant report

Variant	rs114312575
Chromosome Location	chr11:94145964-94145965
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:61)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:94145963-94146013	HCM	heart:	n/a
2	chr11:94145963-94146013	NHBE	bronchial:	n/a
3	chr11:94145963-94146013	A549	lung:	n/a
4	chr11:94145963-94146013	HEK293	kidney:	embryo
5	chr11:94145963-94146013	Hela-S3	cervix:	n/a
6	chr11:94145963-94146013	ovcar-3	ovarian:	n/a
7	chr11:94145963-94146013	AG04450	lung:	fetal
8	chr11:94145963-94146013	NT2-D1	testis:	n/a
9	chr11:94145963-94146013	AG04449	skin:	fetal
10	chr11:94145963-94146013	PrEC	prostate:	n/a
11	chr11:94145963-94146013	BJ	skin:	n/a
12	chr11:94145963-94146013	HRPEpiC	eye:	n/a
13	chr11:94145963-94146013	GM12892	blood:	n/a
14	chr11:94145963-94146013	HL-60	blood:	n/a
15	chr11:94145963-94146013	PFSK-1	brain:	n/a
16	chr11:94145963-94146013	HPAEpiC	pulmonary alveolar:	n/a
17	chr11:94145963-94146013	GM19239	blood:	n/a
18	chr11:94145963-94146013	HUVEC	blood vessel:	n/a
19	chr11:94145963-94146013	HCF	heart:	n/a
20	chr11:94145963-94146013	CMK	blood:	n/a
21	chr11:94145963-94146013	HAEpiC	amniotic membrane:	n/a
22	chr11:94145963-94146013	RPTEC	kidney:	n/a
23	chr11:94145963-94146013	HNPCEpiC	eye:	n/a
24	chr11:94145963-94146013	HRE	kidney:	n/a
25	chr11:94145963-94146013	MCF-7	breast:	n/a
26	chr11:94145963-94146013	NHDF-neo	bronchial:	n/a
27	chr11:94145963-94146013	GM12891	blood:	n/a
28	chr11:94145963-94146013	SKMC	muscle:	n/a
29	chr11:94145963-94146013	MCF10A-Er-Src	breast:	n/a
30	chr11:94145963-94146013	GM06990	blood:	n/a
31	chr11:94145963-94146013	AG10803	skin:	n/a
32	chr11:94145963-94146013	LNCaP	prostate:	n/a
33	chr11:94145963-94146013	GM12878	blood:	n/a
34	chr11:94145963-94146013	SK-N-SH_RA	brain:	n/a
35	chr11:94145963-94146013	AG09309	skin:	n/a
36	chr11:94145963-94146013	HMEC	breast:	n/a
37	chr11:94145963-94146013	HEEpiC	esophagus:	n/a
38	chr11:94145963-94146013	SK-N-MC	brain:	n/a
39	chr11:94145963-94146013	K562	blood:	n/a
40	chr11:94145963-94146013	H1-hESC	embryonic stem cell:	embryo
41	chr11:94145963-94146013	HCT-116	colon:	n/a
42	chr11:94145963-94146013	SAEC	small airway:	n/a
43	chr11:94145963-94146013	HRCEpiC	kidney:	n/a
44	chr11:94145963-94146013	HIPEpiC	eye:	n/a
45	chr11:94145963-94146013	NH-A	brain:	n/a
46	chr11:94145963-94146013	HCPEpiC	choroid plexus:	n/a
47	chr11:94145963-94146013	Caco-2	colon:	n/a
48	chr11:94145963-94146013	ECC-1	luminal epithelium:	n/a
49	chr11:94145963-94146013	ProgFib	skin:	n/a
50	chr11:94145963-94146013	AG09319	gingival:	n/a

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:94144560..94146468-chr11:94146702..94148418,2	MCF-7	breast:
2	chr11:94089973..94092679-chr11:94143907..94145994,2	K562	blood:
3	chr11:94143610..94146567-chr11:94146624..94148573,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000263966	CpG island

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv523083	chr11:93962121-94150790	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv832233	chr11:93981434-94158471	Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	esv1795745	chr11:94144987-94227993	Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	esv1798271	chr11:94144987-94227993	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:94135200-94161400	Weak transcription	Placenta	Placenta
2	chr11:94135200-94162200	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr11:94138600-94162200	Weak transcription	Brain Cingulate Gyrus	brain
4	chr11:94141200-94155000	Weak transcription	Primary T cells from cord blood	blood
5	chr11:94141800-94156600	Weak transcription	Spleen	Spleen
6	chr11:94142000-94154800	Weak transcription	Primary hematopoietic stem cells	blood
7	chr11:94142400-94161200	Weak transcription	Brain Anterior Caudate	brain
8	chr11:94142600-94154800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr11:94142800-94152200	Weak transcription	Liver	Liver
10	chr11:94142800-94156000	Weak transcription	Thymus	Thymus
11	chr11:94143000-94150400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr11:94143200-94156400	Weak transcription	Fetal Stomach	stomach
13	chr11:94143400-94156400	Weak transcription	Gastric	stomach
14	chr11:94143600-94147400	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr11:94143600-94154800	Weak transcription	Fetal Muscle Trunk	muscle
16	chr11:94143600-94156400	Weak transcription	Lung	lung
17	chr11:94143800-94148600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr11:94143800-94151600	Weak transcription	Primary T cells fromperipheralblood	blood
19	chr11:94143800-94156200	Weak transcription	Fetal Intestine Small	intestine
20	chr11:94143800-94156400	Weak transcription	Ovary	ovary
21	chr11:94144000-94147400	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr11:94144200-94169200	Weak transcription	Aorta	Aorta
23	chr11:94144400-94153600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr11:94145000-94156400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr11:94145000-94161800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr11:94145200-94152800	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr11:94145400-94154800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr11:94145400-94162000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr11:94145600-94147200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr11:94145800-94146600	Strong transcription	Dnd41	blood

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