Variant report

Variant	rs11217399
Chromosome Location	chr11:119559361-119559362
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	chr11:119558943-119559518	HL-60	blood:	n/a	n/a
2	POLR2A	chr11:119558988-119559510	HL-60	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:119558592..119561187-chr11:119565214..119567507,2	MCF-7	breast:
2	chr11:119553949..119556596-chr11:119559313..119561537,3	MCF-7	breast:

Variant related genes	Relation type
PVRL1	TF binding region

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10892430	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10892431	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10892432	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11217386	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11217389	1.00[ASN][1000 genomes]
rs11217391	1.00[EUR][1000 genomes]
rs11217394	1.00[ASN][1000 genomes]
rs11217396	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11217398	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11217400	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11217401	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11217402	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11217403	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11217406	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11217407	1.00[ASN][1000 genomes]
rs11217409	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11217412	0.93[ASN][1000 genomes]
rs11217425	1.00[EUR][1000 genomes]
rs11217485	1.00[EUR][1000 genomes]
rs11217498	1.00[EUR][1000 genomes]
rs11600941	1.00[EUR][1000 genomes]
rs11822242	1.00[EUR][1000 genomes]
rs12222517	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12279707	1.00[EUR][1000 genomes]
rs12281756	1.00[EUR][1000 genomes]
rs12282037	1.00[EUR][1000 genomes]
rs17123203	1.00[ASN][1000 genomes]
rs4424680	1.00[EUR][1000 genomes]
rs57088022	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58117702	1.00[ASN][1000 genomes]
rs59997117	1.00[EUR][1000 genomes]
rs60295158	1.00[EUR][1000 genomes]
rs60865388	0.96[ASN][1000 genomes]
rs73575046	1.00[EUR][1000 genomes]
rs7927749	1.00[EUR][1000 genomes]
rs7936254	1.00[EUR][1000 genomes]

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	nsv898421	chr11:119499014-119631325	Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv984471	chr11:119505802-119568473	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv898422	chr11:119518006-119601779	Bivalent Enhancer Enhancers Bivalent/Poised TSS ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv898423	chr11:119541332-119659753	Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:119550200-119567400	Enhancers	Esophagus	oesophagus
2	chr11:119550800-119559400	Enhancers	Brain Inferior Temporal Lobe	brain
3	chr11:119551600-119567400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr11:119552000-119560000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr11:119553800-119565200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr11:119554600-119560200	Enhancers	Brain Cingulate Gyrus	brain
7	chr11:119554600-119560400	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr11:119554600-119566400	Enhancers	Fetal Muscle Leg	muscle
9	chr11:119554800-119559400	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr11:119554800-119559400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr11:119554800-119559600	Enhancers	Brain Germinal Matrix	brain
12	chr11:119554800-119560000	Enhancers	Brain Angular Gyrus	brain
13	chr11:119554800-119561000	Enhancers	H1 Cell Line	embryonic stem cell
14	chr11:119555000-119559400	Bivalent Enhancer	Fetal Stomach	stomach
15	chr11:119555200-119559400	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr11:119555200-119559800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr11:119555200-119560000	Enhancers	Fetal Muscle Trunk	muscle
18	chr11:119555200-119562600	Enhancers	HMEC	breast
19	chr11:119555400-119560000	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr11:119555600-119561000	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr11:119555600-119563000	Weak transcription	Gastric	stomach
22	chr11:119555800-119561800	Weak transcription	Fetal Lung	lung
23	chr11:119555800-119563000	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
24	chr11:119555800-119563800	Weak transcription	Small Intestine	intestine
25	chr11:119555800-119564200	Weak transcription	Stomach Mucosa	stomach
26	chr11:119555800-119568800	Weak transcription	Left Ventricle	heart
27	chr11:119556000-119561200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr11:119556000-119562000	Weak transcription	Adipose Nuclei	Adipose
29	chr11:119556000-119568600	Weak transcription	Right Atrium	heart
30	chr11:119556000-119571600	Weak transcription	NHLF	lung
31	chr11:119556400-119562200	Weak transcription	Right Ventricle	heart
32	chr11:119556600-119559800	Weak transcription	Fetal Kidney	kidney
33	chr11:119556600-119561600	Weak transcription	GM12878-XiMat	blood
34	chr11:119556600-119564800	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr11:119556600-119565200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr11:119556800-119561000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr11:119557000-119559600	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr11:119557000-119560600	Enhancers	Brain Hippocampus Middle	brain
39	chr11:119557200-119559400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
40	chr11:119557200-119560200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
41	chr11:119557400-119559400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr11:119557400-119559800	Enhancers	Primary B cells from cord blood	blood
43	chr11:119557400-119560000	Weak transcription	HepG2	liver
44	chr11:119557400-119561200	Enhancers	Brain Substantia Nigra	brain
45	chr11:119557400-119561400	Enhancers	Placenta	Placenta
46	chr11:119557600-119559400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr11:119557600-119559400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr11:119557600-119559600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr11:119557600-119562000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr11:119557600-119562000	Weak transcription	Duodenum Mucosa	Duodenum

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