Variant report

Variant	rs4651080
Chromosome Location	chr1:180934163-180934164
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:180930846..180933775-chr1:180934126..180936251,3	K562	blood:
2	chr1:180920141..180924832-chr1:180927695..180934337,6	MCF-7	breast:
3	chr1:180933034..180938105-chr1:180938834..180942220,6	MCF-7	breast:
4	chr1:180932996..180935455-chr1:180937795..180941673,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000232586	Chromatin interaction
ENSG00000251520	Chromatin interaction
ENSG00000270711	Chromatin interaction
ENSG00000234237	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10753229	0.92[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2068800	0.87[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.89[GIH][hapmap];0.94[JPT][hapmap];0.91[MEX][hapmap];0.90[TSI][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs58047756	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs870046	0.87[GIH][hapmap];0.83[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014404	chr1:180770155-181090200	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
2	esv2754938	chr1:180919343-180934343	Enhancers Genic enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	n/a
3	esv3342865	chr1:180933678-181018012	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs4651080	TOR1AIP1	cis	parietal	SCAN
rs4651080	C1orf14	cis	cerebellum	SCAN
rs4651080	CACNA1E	cis	parietal	SCAN

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:180905400-180940600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:180918600-180939800	Weak transcription	K562	blood
3	chr1:180918600-180944800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr1:180919800-180935800	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr1:180922600-180949400	Strong transcription	Dnd41	blood
6	chr1:180923000-180935800	Weak transcription	Fetal Heart	heart
7	chr1:180923600-180944800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr1:180923600-180958800	Weak transcription	Small Intestine	intestine
9	chr1:180923800-180938600	Weak transcription	Aorta	Aorta
10	chr1:180923800-180942800	Weak transcription	Fetal Lung	lung
11	chr1:180923800-180944800	Weak transcription	HUVEC	blood vessel
12	chr1:180923800-180944800	Weak transcription	NH-A	brain
13	chr1:180924000-180934400	Weak transcription	Left Ventricle	heart
14	chr1:180924000-180935000	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr1:180924000-180935600	Weak transcription	Primary B cells from peripheral blood	blood
16	chr1:180924000-180937800	Weak transcription	Right Ventricle	heart
17	chr1:180924000-180938400	Weak transcription	NHLF	lung
18	chr1:180924000-180938800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr1:180924000-180939000	Weak transcription	Colonic Mucosa	Colon
20	chr1:180924000-180939200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr1:180924000-180939400	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr1:180924000-180940000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr1:180924000-180940200	Weak transcription	Gastric	stomach
24	chr1:180924000-180941600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr1:180924200-180934400	Weak transcription	GM12878-XiMat	blood
26	chr1:180924200-180935000	Weak transcription	Primary T helper cells fromperipheralblood	blood
27	chr1:180924200-180936200	Weak transcription	Rectal Smooth Muscle	rectum
28	chr1:180924200-180939000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr1:180924200-180940000	Weak transcription	NHDF-Ad	bronchial
30	chr1:180924200-180941600	Weak transcription	Pancreas	Pancrea
31	chr1:180924200-180942000	Weak transcription	Liver	Liver
32	chr1:180924200-180943400	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr1:180924400-180934200	Weak transcription	Primary T helper cells PMA-I stimulated	--
34	chr1:180926000-180938200	Strong transcription	Monocytes-CD14+_RO01746	blood
35	chr1:180926600-180937000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr1:180927000-180935400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr1:180927600-180934400	Weak transcription	Primary neutrophils fromperipheralblood	blood
38	chr1:180929000-180956200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr1:180929400-180934200	Weak transcription	Fetal Intestine Large	intestine
40	chr1:180929600-180939200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr1:180930000-180934200	Weak transcription	Stomach Smooth Muscle	stomach
42	chr1:180930200-180939600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr1:180930200-180950200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
44	chr1:180930400-180934600	Enhancers	Thymus	Thymus
45	chr1:180930600-180935200	Weak transcription	HepG2	liver
46	chr1:180930800-180935600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr1:180930800-180939000	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr1:180930800-180939200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr1:180931000-180937000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr1:180931000-180938600	Weak transcription	HUES48 Cell Line	embryonic stem cell

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