Variant report

Variant	rs11869283
Chromosome Location	chr17:17132948-17132949
allele	A/G
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	chr17:17132876-17132970	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:17131671..17134526-chr17:17137834..17141080,5	MCF-7	breast:
2	chr17:17132573..17135085-chr17:17184051..17185920,2	K562	blood:

Variant related genes	Relation type
FLCN	TF binding region
ENSG00000154803	Chromatin interaction
ENSG00000266498	Chromatin interaction
ENSG00000141030	Chromatin interaction
ENSG00000264187	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs11867522	1.00[CEU][hapmap];1.00[MEX][hapmap];0.83[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11868052	1.00[CEU][hapmap]
rs11868392	1.00[CEU][hapmap];1.00[MEX][hapmap]
rs11868908	1.00[CEU][hapmap]
rs11869415	1.00[CEU][hapmap];1.00[MEX][hapmap]
rs11869423	1.00[CEU][hapmap]
rs11870335	1.00[CEU][hapmap]
rs11871120	1.00[CEU][hapmap]
rs3744123	0.85[AMR][1000 genomes]
rs57800482	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61750032	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6502556	1.00[CEU][hapmap]
rs6502558	1.00[CEU][hapmap]
rs6502559	1.00[CEU][hapmap]
rs6502560	1.00[CEU][hapmap]
rs7209447	1.00[MEX][hapmap]
rs7215207	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7216705	1.00[CEU][hapmap]
rs7220492	1.00[CEU][hapmap]
rs7223773	1.00[CEU][hapmap]
rs7225977	1.00[CEU][hapmap]
rs8064533	1.00[AMR][1000 genomes]
rs8066280	1.00[CEU][hapmap]
rs8067672	1.00[CEU][hapmap]
rs8068587	1.00[CEU][hapmap]
rs8073346	1.00[CEU][hapmap]
rs8075194	1.00[CEU][hapmap];0.83[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8080972	1.00[CEU][hapmap]
rs9890700	1.00[CEU][hapmap];0.83[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9891435	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9891561	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9900416	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9905615	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9908943	1.00[AMR][1000 genomes]
rs9910071	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833380	chr17:17088416-17241206	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv1065811	chr17:17104760-17225204	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv833382	chr17:17124329-17305683	Genic enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv469777	chr17:17127385-17272698	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv482546	chr17:17127385-17272698	Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17113200-17135200	Strong transcription	Fetal Intestine Small	intestine
2	chr17:17113200-17136600	Strong transcription	Fetal Stomach	stomach
3	chr17:17113400-17134600	Strong transcription	Fetal Muscle Trunk	muscle
4	chr17:17113400-17136200	Strong transcription	Primary neutrophils fromperipheralblood	blood
5	chr17:17113800-17134600	Strong transcription	Fetal Muscle Leg	muscle
6	chr17:17113800-17137600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr17:17114000-17134800	Strong transcription	Fetal Intestine Large	intestine
8	chr17:17114000-17135200	Strong transcription	Rectal Mucosa Donor 29	rectum
9	chr17:17114000-17136200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr17:17114000-17136200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr17:17114000-17136400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr17:17114000-17136400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr17:17114000-17136400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
14	chr17:17114000-17136400	Strong transcription	Placenta	Placenta
15	chr17:17114000-17136600	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr17:17114200-17136600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr17:17114400-17136200	Strong transcription	Primary T cells from cord blood	blood
18	chr17:17114400-17136200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr17:17114400-17136400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr17:17114400-17136600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr17:17114600-17134800	Strong transcription	Duodenum Mucosa	Duodenum
22	chr17:17114600-17136000	Strong transcription	Fetal Brain Female	brain
23	chr17:17114600-17136200	Strong transcription	NHLF	lung
24	chr17:17114600-17136400	Strong transcription	HUES6 Cell Line	embryonic stem cell
25	chr17:17114600-17136400	Strong transcription	HUES64 Cell Line	embryonic stem cell
26	chr17:17114600-17136400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr17:17114600-17136400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr17:17114600-17136400	Strong transcription	Primary monocytes fromperipheralblood	blood
29	chr17:17114600-17136400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr17:17114600-17136600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr17:17114800-17136400	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr17:17114800-17136400	Strong transcription	Osteobl	bone
33	chr17:17115000-17136200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr17:17115000-17136200	Strong transcription	Primary T helper cells fromperipheralblood	blood
35	chr17:17115200-17139600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
36	chr17:17115400-17136200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr17:17115600-17136400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr17:17115800-17136000	Strong transcription	Sigmoid Colon	Sigmoid Colon
39	chr17:17116000-17133800	Strong transcription	Esophagus	oesophagus
40	chr17:17116000-17135400	Strong transcription	Stomach Smooth Muscle	stomach
41	chr17:17116000-17135800	Strong transcription	Thymus	Thymus
42	chr17:17116000-17136000	Strong transcription	H1 Cell Line	embryonic stem cell
43	chr17:17116000-17136000	Strong transcription	Primary B cells from peripheral blood	blood
44	chr17:17116000-17136000	Strong transcription	Muscle Satellite Cultured Cells	--
45	chr17:17116000-17136200	Strong transcription	HUES48 Cell Line	embryonic stem cell
46	chr17:17116000-17136200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
47	chr17:17116000-17136200	Strong transcription	Primary T helper cells PMA-I stimulated	--
48	chr17:17116000-17136400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
49	chr17:17116000-17136400	Strong transcription	Cortex derived primary cultured neurospheres	brain
50	chr17:17116000-17136400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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