Variant report

Variant	rs11581837
Chromosome Location	chr1:180894946-180894947
allele	A/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	chr1:180894658-180895173	HepG2	liver:	n/a	n/a
2	RXRA	chr1:180894638-180895094	HepG2	liver:	n/a	chr1:180894845-180894861 chr1:180894894-180894908 chr1:180894847-180894861
3	ZBTB7A	chr1:180894790-180895102	HepG2	liver:	n/a	n/a
4	MAX	chr1:180894740-180895015	H1-hESC	embryonic stem cell:	n/a	n/a
5	EP300	chr1:180894708-180895028	HepG2	liver:	n/a	n/a
6	SP1	chr1:180894577-180895170	HepG2	liver:	n/a	chr1:180894892-180894906
7	ZBTB7A	chr1:180894740-180895100	HepG2	liver:	n/a	n/a
8	HNF4G	chr1:180894620-180895078	HepG2	liver:	n/a	chr1:180894847-180894859 chr1:180894704-180894716 chr1:180894699-180894714 chr1:180894848-180894856 chr1:180894846-180894860 chr1:180894847-180894859 chr1:180894846-180894859 chr1:180894846-180894861 chr1:180894847-180894860 chr1:180894846-180894860 chr1:180894844-180894862 chr1:180894847-180894859
9	EP300	chr1:180894092-180899177	SK-N-SH	brain:	n/a	chr1:180896188-180896202
10	HEY1	chr1:180894612-180895000	HepG2	liver:	n/a	n/a
11	HDAC2	chr1:180894612-180895067	HepG2	liver:	n/a	n/a
12	MYC	chr1:180894753-180894958	HepG2	liver:	n/a	n/a
13	MAX	chr1:180894545-180895183	HepG2	liver:	n/a	n/a
14	MYBL2	chr1:180894582-180895126	HepG2	liver:	n/a	n/a
15	NFIC	chr1:180894718-180895027	HepG2	liver:	n/a	n/a
16	RCOR1	chr1:180894752-180895078	HepG2	liver:	n/a	n/a
17	TCF12	chr1:180894737-180894963	H1-hESC	embryonic stem cell:	n/a	chr1:180894749-180894756
18	HNF4A	chr1:180894552-180895126	HepG2	liver:	n/a	chr1:180894847-180894859 chr1:180894704-180894716 chr1:180894699-180894714 chr1:180894848-180894856 chr1:180894846-180894860 chr1:180894847-180894859 chr1:180894845-180894860 chr1:180894846-180894859 chr1:180894847-180894860 chr1:180894846-180894860 chr1:180894844-180894862 chr1:180894847-180894859
19	RXRA	chr1:180894530-180895166	HepG2	liver:	n/a	chr1:180894845-180894861 chr1:180894894-180894908 chr1:180894847-180894861
20	TBP	chr1:180894737-180895003	HepG2	liver:	n/a	n/a
21	MAX	chr1:180894636-180895054	H1-hESC	embryonic stem cell:	n/a	n/a
22	ARID3A	chr1:180894667-180895049	HepG2	liver:	n/a	n/a
23	MAX	chr1:180894622-180894987	H1-hESC	embryonic stem cell:	n/a	n/a
24	CHD2	chr1:180894701-180895029	HepG2	liver:	n/a	n/a
25	HNF4A	chr1:180894636-180895079	HepG2	liver:	n/a	chr1:180894847-180894859 chr1:180894704-180894716 chr1:180894699-180894714 chr1:180894848-180894856 chr1:180894846-180894860 chr1:180894847-180894859 chr1:180894845-180894860 chr1:180894846-180894859 chr1:180894847-180894860 chr1:180894846-180894860 chr1:180894844-180894862 chr1:180894847-180894859
26	RAD21	chr1:180894486-180894996	HepG2	liver:	n/a	chr1:180894742-180894756 chr1:180894915-180894922
27	ZNF263	chr1:180894869-180896749	K562	blood:	n/a	n/a
28	HNF4G	chr1:180894619-180895080	HepG2	liver:	n/a	chr1:180894847-180894859 chr1:180894704-180894716 chr1:180894699-180894714 chr1:180894848-180894856 chr1:180894846-180894860 chr1:180894847-180894859 chr1:180894846-180894859 chr1:180894846-180894861 chr1:180894847-180894860 chr1:180894846-180894860 chr1:180894844-180894862 chr1:180894847-180894859
29	GATA2	chr1:180894667-180896194	SH-SY5Y	brain:	n/a	n/a
30	MAZ	chr1:180894685-180895164	HepG2	liver:	n/a	n/a
31	EP300	chr1:180894576-180895134	HepG2	liver:	n/a	n/a
32	MAX	chr1:180894700-180895079	HepG2	liver:	n/a	n/a
33	NFIC	chr1:180894642-180895118	HepG2	liver:	n/a	n/a
34	EP300	chr1:180894594-180895087	HepG2	liver:	n/a	n/a
35	HNF4A	chr1:180894690-180895088	HepG2	liver:	n/a	chr1:180894847-180894859 chr1:180894704-180894716 chr1:180894699-180894714 chr1:180894848-180894856 chr1:180894846-180894860 chr1:180894847-180894859 chr1:180894845-180894860 chr1:180894846-180894859 chr1:180894847-180894860 chr1:180894846-180894860 chr1:180894844-180894862 chr1:180894847-180894859
36	MYBL2	chr1:180894370-180895231	HepG2	liver:	n/a	n/a
37	REST	chr1:180894599-180895018	HepG2	liver:	n/a	chr1:180894755-180894768

No.	Distal block	Cell Line	Cell type
1	chr1:180894020..180896970-chr1:180921543..180923993,2	MCF-7	breast:
2	chr1:180893452..180895106-chr1:180898363..180900238,2	K562	blood:
3	chr1:180892738..180895948-chr1:181056431..181059504,3	K562	blood:
4	chr1:180888347..180891443-chr1:180893391..180896382,5	K562	blood:
5	chr1:180893588..180895646-chr1:181053051..181055501,3	MCF-7	breast:
6	chr1:180865980..180867777-chr1:180893565..180896342,2	K562	blood:

Variant related genes	Relation type
KIAA1614	TF binding region
ENSG00000162783	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11582550	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11584360	1.00[CEU][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11587899	1.00[CEU][hapmap];0.95[JPT][hapmap];0.85[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12735084	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12748054	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12753478	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13374657	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]

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	nsv872579	chr1:180881148-180931508	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv1001918	chr1:180886750-180908005	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:180883600-180895000	Weak transcription	Rectal Smooth Muscle	rectum
2	chr1:180885800-180895000	Weak transcription	NHLF	lung
3	chr1:180886000-180911000	Enhancers	Fetal Thymus	thymus
4	chr1:180887600-180915800	Weak transcription	Osteobl	bone
5	chr1:180888400-180897600	Weak transcription	Aorta	Aorta
6	chr1:180888600-180917200	Weak transcription	Gastric	stomach
7	chr1:180890400-180895600	Enhancers	Thymus	Thymus
8	chr1:180890400-180898200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr1:180890600-180898000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr1:180890800-180898200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr1:180890800-180898600	Enhancers	Placenta	Placenta
12	chr1:180891000-180897800	Enhancers	H1 Cell Line	embryonic stem cell
13	chr1:180891400-180896600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr1:180891600-180901000	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr1:180891800-180895200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr1:180891800-180898200	Enhancers	Fetal Muscle Trunk	muscle
17	chr1:180892400-180895400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr1:180892600-180895000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr1:180892600-180895200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr1:180892600-180895400	Enhancers	Brain Anterior Caudate	brain
21	chr1:180892800-180895200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr1:180892800-180895200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr1:180892800-180895200	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr1:180892800-180895200	Weak transcription	NHDF-Ad	bronchial
25	chr1:180893000-180895200	Enhancers	H9 Cell Line	embryonic stem cell
26	chr1:180893000-180895200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr1:180893000-180895200	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr1:180893000-180895600	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr1:180893000-180896600	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr1:180893000-180897400	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr1:180893000-180897400	Weak transcription	Lung	lung
32	chr1:180893000-180897800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr1:180893000-180898000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr1:180893200-180895400	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr1:180893200-180896800	Enhancers	K562	blood
36	chr1:180893600-180895000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr1:180893600-180895600	Weak transcription	NHEK	skin
38	chr1:180893600-180897800	Enhancers	Fetal Muscle Leg	muscle
39	chr1:180893800-180895000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr1:180893800-180895200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr1:180894000-180895600	Weak transcription	NH-A	brain
42	chr1:180894000-180897800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr1:180894200-180895200	Enhancers	HUES64 Cell Line	embryonic stem cell
44	chr1:180894200-180895200	Enhancers	Adipose Nuclei	Adipose
45	chr1:180894200-180895400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr1:180894200-180895400	Enhancers	Primary hematopoietic stem cells short term culture	blood
47	chr1:180894200-180895400	Enhancers	Brain Inferior Temporal Lobe	brain
48	chr1:180894200-180895400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
49	chr1:180894200-180895400	Enhancers	Skeletal Muscle Male	skeletal muscle
50	chr1:180894200-180895400	Enhancers	Skeletal Muscle Female	skeletal muscle

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