Variant report

Variant	rs11264421
Chromosome Location	chr1:155901307-155901308
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:155825492..155827773-chr1:155899342..155902054,2	K562	blood:
2	chr1:155901303..155903667-chr1:156040998..156043526,2	K562	blood:
3	chr1:155897781..155902008-chr1:155946105..155951194,6	K562	blood:
4	chr1:155898876..155902845-chr1:155952494..155955112,4	K562	blood:
5	chr1:155878384..155883302-chr1:155900472..155905868,7	K562	blood:
6	chr1:155900582..155906000-chr1:156022334..156026632,8	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143622	Chromatin interaction
ENSG00000160803	Chromatin interaction
ENSG00000116586	Chromatin interaction
ENSG00000116580	Chromatin interaction
ENSG00000116584	Chromatin interaction
ENSG00000273002	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs1010033	0.92[EUR][1000 genomes]
rs1018730	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1055184	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10908485	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12039053	0.92[EUR][1000 genomes]
rs12138833	0.92[EUR][1000 genomes]
rs12747344	0.93[EUR][1000 genomes]
rs1749407	0.87[EUR][1000 genomes]
rs1749408	0.81[EUR][1000 genomes]
rs1749409	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1765275	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1964951	0.86[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs2275079	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2275081	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2364402	0.92[EUR][1000 genomes]
rs2364404	0.92[EUR][1000 genomes]
rs28379575	0.90[EUR][1000 genomes]
rs2886069	0.92[EUR][1000 genomes]
rs34802187	0.93[EUR][1000 genomes]
rs35374730	0.93[EUR][1000 genomes]
rs35588936	0.80[EUR][1000 genomes]
rs35730001	0.90[EUR][1000 genomes]
rs3768280	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4412586	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4661160	0.92[EUR][1000 genomes]
rs4661162	0.92[EUR][1000 genomes]
rs4661170	0.95[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4661172	0.92[EUR][1000 genomes]
rs493446	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs506688	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs527113	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs536870	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs572609	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs605025	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6660802	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6667096	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs708614	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs71628697	0.94[EUR][1000 genomes]
rs822502	0.85[EUR][1000 genomes]
rs822503	0.92[EUR][1000 genomes]
rs822653	0.87[AMR][1000 genomes];0.93[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	esv33869	chr1:155223283-155917961	Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	187 gene(s)	inside rSNPs	diseases
2	esv3423892	chr1:155664084-155901487	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv916198	chr1:155804210-156403997	Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	428 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	chr1:155882000-155901400	Strong transcription	HUES6 Cell Line	embryonic stem cell
2	chr1:155882000-155901400	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr1:155882200-155901400	Strong transcription	HUES64 Cell Line	embryonic stem cell
4	chr1:155882200-155901400	Strong transcription	Primary monocytes fromperipheralblood	blood
5	chr1:155882200-155901400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr1:155882200-155903000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr1:155882600-155901600	Strong transcription	iPS-15b Cell Line	embryonic stem cell
8	chr1:155882600-155901600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
9	chr1:155882800-155901400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr1:155882800-155901600	Strong transcription	H1 Cell Line	embryonic stem cell
11	chr1:155882800-155902600	Strong transcription	H9 Cell Line	embryonic stem cell
12	chr1:155883000-155902200	Strong transcription	Primary neutrophils fromperipheralblood	blood
13	chr1:155888000-155902600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr1:155890200-155901600	Strong transcription	ES-I3 Cell Line	embryonic stem cell
15	chr1:155894600-155901400	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr1:155896600-155903200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr1:155896800-155903200	Weak transcription	Gastric	stomach
18	chr1:155897000-155901600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr1:155897400-155903400	Weak transcription	Aorta	Aorta
20	chr1:155897800-155904000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr1:155898000-155901400	Strong transcription	HSMMtube	muscle
22	chr1:155898600-155903000	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr1:155898800-155901400	Genic enhancers	K562	blood
24	chr1:155899000-155903000	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
25	chr1:155899200-155902800	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
26	chr1:155899400-155902800	Genic enhancers	Fetal Intestine Large	intestine
27	chr1:155899400-155903200	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
28	chr1:155899400-155903600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr1:155899600-155901600	Weak transcription	Stomach Mucosa	stomach
30	chr1:155899600-155902000	Weak transcription	Spleen	Spleen
31	chr1:155899800-155902000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
32	chr1:155899800-155902200	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
33	chr1:155899800-155903000	Transcr. at gene 5' and 3'	Breast Myoepithelial Primary Cells	Breast
34	chr1:155899800-155903200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr1:155899800-155903200	Genic enhancers	Primary T cells fromperipheralblood	blood
36	chr1:155900000-155902200	Genic enhancers	Brain Hippocampus Middle	brain
37	chr1:155900000-155902200	Transcr. at gene 5' and 3'	HUVEC	blood vessel
38	chr1:155900000-155902800	Genic enhancers	Primary T cells from cord blood	blood
39	chr1:155900000-155903000	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
40	chr1:155900000-155903000	Genic enhancers	Liver	Liver
41	chr1:155900000-155903200	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr1:155900000-155903200	Genic enhancers	Primary T helper cells fromperipheralblood	blood
43	chr1:155900000-155903400	Genic enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr1:155900000-155903600	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr1:155900000-155903600	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
46	chr1:155900200-155901600	Transcr. at gene 5' and 3'	Brain Dorsolateral Prefrontal Cortex	brain
47	chr1:155900200-155901600	Transcr. at gene 5' and 3'	Stomach Smooth Muscle	stomach
48	chr1:155900200-155902200	Genic enhancers	Brain Substantia Nigra	brain
49	chr1:155900200-155902600	Genic enhancers	Skeletal Muscle Female	skeletal muscle
50	chr1:155900200-155902800	Genic enhancers	Primary T killer memory cells from peripheral blood	blood

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