Variant report

Variant	rs17382996
Chromosome Location	chr1:78412779-78412780
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:78403176-78414550	K562	blood:	n/a	n/a
2	POLR2A	chr1:78406261-78415106	HepG2	liver:	n/a	n/a
3	POLR2A	chr1:78412639-78413239	PFSK-1	brain:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:78411683..78415390-chr1:78442833..78445980,4	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FUBP1-2	chr1:78412215-78414018	NONHSAT004059
2	lnc-FUBP1-2	chr1:78412215-78413354	NONHSAT004060

No data

Variant related genes	Relation type
FUBP1	TF binding region
ENSG00000137960	Chromatin interaction
ENSG00000162613	Chromatin interaction
ENSG00000162616	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs1001070	1.00[CEU][hapmap]
rs1001103	1.00[CEU][hapmap]
rs10437022	1.00[CEU][hapmap]
rs11162400	1.00[CEU][hapmap]
rs1166702	1.00[CEU][hapmap]
rs11807240	1.00[CEU][hapmap]
rs12021502	1.00[AFR][1000 genomes]
rs12405212	1.00[CEU][hapmap]
rs12409561	1.00[CEU][hapmap]
rs12727569	1.00[CHD][hapmap]
rs1335481	1.00[CEU][hapmap]
rs1555798	1.00[CEU][hapmap]
rs17100984	1.00[CHD][hapmap]
rs17382879	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17383213	1.00[CEU][hapmap]
rs17387365	1.00[CEU][hapmap]
rs1855704	1.00[CEU][hapmap]
rs2274124	1.00[AFR][1000 genomes]
rs2274257	1.00[CEU][hapmap]
rs2296453	1.00[CEU][hapmap]
rs3767028	1.00[CEU][hapmap]
rs4949828	1.00[CEU][hapmap]
rs4949829	1.00[CEU][hapmap]
rs55947434	1.00[AFR][1000 genomes]
rs61729829	1.00[AFR][1000 genomes]
rs628451	1.00[CEU][hapmap]
rs6424664	1.00[CEU][hapmap]
rs6656888	1.00[CEU][hapmap]
rs6677890	1.00[CEU][hapmap]
rs750720	1.00[CEU][hapmap]
rs7514007	1.00[CEU][hapmap]
rs9659938	1.00[CEU][hapmap]
rs9660322	1.00[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1794082	chr1:78102426-78492221	Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	108 gene(s)	inside rSNPs	diseases
2	esv3434340	chr1:78153780-78607103	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:78371600-78413000	Weak transcription	Psoas Muscle	Psoas
2	chr1:78372800-78418600	Weak transcription	Pancreas	Pancrea
3	chr1:78383600-78418600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:78388600-78416800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr1:78389000-78414600	Strong transcription	NH-A	brain
6	chr1:78392200-78420400	Strong transcription	HSMM	muscle
7	chr1:78393000-78418600	Weak transcription	Lung	lung
8	chr1:78393200-78417400	Weak transcription	Small Intestine	intestine
9	chr1:78393400-78418000	Weak transcription	Stomach Mucosa	stomach
10	chr1:78396200-78414400	Strong transcription	Muscle Satellite Cultured Cells	--
11	chr1:78396800-78415800	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr1:78396800-78419600	Weak transcription	Ovary	ovary
13	chr1:78397800-78418600	Weak transcription	Spleen	Spleen
14	chr1:78398600-78418400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr1:78400400-78417200	Weak transcription	Gastric	stomach
16	chr1:78400600-78415800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr1:78402000-78413000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr1:78402000-78413000	Weak transcription	Primary T cells from cord blood	blood
19	chr1:78403000-78418800	Weak transcription	Rectal Smooth Muscle	rectum
20	chr1:78403200-78415800	Weak transcription	Fetal Stomach	stomach
21	chr1:78405000-78413000	Weak transcription	Colonic Mucosa	Colon
22	chr1:78405000-78418600	Weak transcription	Aorta	Aorta
23	chr1:78405200-78417800	Weak transcription	Fetal Intestine Small	intestine
24	chr1:78405600-78415800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr1:78405800-78414600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr1:78405800-78416600	Strong transcription	Monocytes-CD14+_RO01746	blood
27	chr1:78405800-78432200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr1:78405800-78442200	Strong transcription	Fetal Thymus	thymus
29	chr1:78406000-78414600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr1:78406000-78420200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr1:78406000-78426600	Weak transcription	Fetal Heart	heart
32	chr1:78406000-78436200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr1:78406200-78414400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr1:78406400-78413800	Strong transcription	A549	lung
35	chr1:78406400-78414600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr1:78406600-78413000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr1:78406600-78414200	Strong transcription	GM12878-XiMat	blood
38	chr1:78406600-78414600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr1:78406600-78414600	Strong transcription	Adipose Nuclei	Adipose
40	chr1:78406600-78414800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr1:78406600-78436200	Strong transcription	Liver	Liver
42	chr1:78406600-78440600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr1:78406800-78414800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
44	chr1:78406800-78436400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr1:78407000-78413400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr1:78407000-78414000	Strong transcription	Duodenum Smooth Muscle	Duodenum
47	chr1:78407000-78434400	Strong transcription	Dnd41	blood
48	chr1:78407000-78437200	Strong transcription	HUES6 Cell Line	embryonic stem cell
49	chr1:78407200-78413000	Weak transcription	Left Ventricle	heart
50	chr1:78407200-78415800	Weak transcription	Placenta Amnion	Placenta Amnion

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