Variant report

Variant	rs11265310
Chromosome Location	chr1:154197126-154197127
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	chr1:154196914-154197373	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr1:154196786-154197455	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr1:154196178-154197163	K562	blood:	n/a	n/a
4	USF1	chr1:154196896-154197157	K562	blood:	n/a	n/a
5	POLR2A	chr1:154196727-154197142	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:154161421..154168420-chr1:154191340..154198003,13	MCF-7	breast:
2	chr1:154196196..154198596-chr1:154226776..154229363,3	K562	blood:
3	chr1:154195913..154198851-chr1:154227024..154228949,3	K562	blood:
4	chr1:154195648..154197587-chr1:154233739..154236534,2	MCF-7	breast:

Variant related genes	Relation type
UBAP2L	TF binding region
C1orf43	TF binding region
ENSG00000215938	Chromatin interaction
ENSG00000252817	Chromatin interaction
ENSG00000143569	Chromatin interaction
ENSG00000143549	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11265201	0.85[EUR][1000 genomes]
rs11265303	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11265398	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12063890	0.85[EUR][1000 genomes]
rs12070842	0.85[EUR][1000 genomes]
rs12091348	0.83[GIH][hapmap]
rs4845607	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59550472	0.85[EUR][1000 genomes]
rs6661996	0.85[EUR][1000 genomes]
rs6672584	0.85[EUR][1000 genomes]
rs7654	1.00[ASW][hapmap];0.90[CHD][hapmap];0.83[GIH][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.84[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs9628669	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999364	chr1:153622634-154419436	Strong transcription Genic enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	286 gene(s)	inside rSNPs	diseases
2	nsv535175	chr1:153622634-154419436	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	286 gene(s)	inside rSNPs	diseases
3	esv1830240	chr1:153885261-154370938	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	239 gene(s)	inside rSNPs	diseases
4	nsv948413	chr1:153974621-154797272	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
5	nsv1000402	chr1:153991106-154527053	Strong transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	106 gene(s)	inside rSNPs	diseases
6	esv3451054	chr1:154182013-154360141	Genic enhancers Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:154194400-154197400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr1:154194400-154197600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:154194600-154197200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
4	chr1:154194600-154197400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
5	chr1:154194600-154197600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr1:154194600-154197600	Weak transcription	Gastric	stomach
7	chr1:154194600-154197600	Weak transcription	Spleen	Spleen
8	chr1:154194600-154199600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr1:154194600-154201000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr1:154194600-154201000	Weak transcription	Aorta	Aorta
11	chr1:154194600-154201000	Weak transcription	Esophagus	oesophagus
12	chr1:154194600-154201000	Weak transcription	Pancreas	Pancrea
13	chr1:154194800-154197600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr1:154194800-154197600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr1:154194800-154197600	Weak transcription	Lung	lung
16	chr1:154194800-154197800	Weak transcription	Placenta	Placenta
17	chr1:154194800-154197800	Enhancers	Skeletal Muscle Male	skeletal muscle
18	chr1:154194800-154198000	Weak transcription	Fetal Muscle Trunk	muscle
19	chr1:154194800-154198600	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr1:154194800-154199200	Weak transcription	Left Ventricle	heart
21	chr1:154194800-154199400	Weak transcription	Small Intestine	intestine
22	chr1:154194800-154202000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr1:154195000-154197200	Enhancers	Primary T helper cells fromperipheralblood	blood
24	chr1:154195000-154197800	Weak transcription	Brain Substantia Nigra	brain
25	chr1:154195200-154197200	Enhancers	Rectal Smooth Muscle	rectum
26	chr1:154195200-154197400	Enhancers	Brain Cingulate Gyrus	brain
27	chr1:154195200-154197600	Weak transcription	Ovary	ovary
28	chr1:154195200-154197600	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr1:154195200-154197800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr1:154195200-154197800	Weak transcription	Brain Hippocampus Middle	brain
31	chr1:154195200-154198000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr1:154195200-154199200	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr1:154195200-154199400	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr1:154195200-154199600	Weak transcription	Colonic Mucosa	Colon
35	chr1:154195200-154211400	Weak transcription	Right Atrium	heart
36	chr1:154195400-154197200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr1:154195400-154197400	Enhancers	Duodenum Smooth Muscle	Duodenum
38	chr1:154195400-154234600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr1:154195600-154197200	Enhancers	Breast Myoepithelial Primary Cells	Breast
40	chr1:154195600-154197400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr1:154195600-154197400	Enhancers	Osteobl	bone
42	chr1:154195600-154197600	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr1:154195600-154197600	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr1:154195600-154197600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr1:154195600-154197600	Weak transcription	Primary B cells from peripheral blood	blood
46	chr1:154195600-154197600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr1:154195600-154197600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr1:154195600-154197600	Weak transcription	Fetal Muscle Leg	muscle
49	chr1:154195600-154197600	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr1:154195600-154197600	Weak transcription	Thymus	Thymus

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