Variant report

Variant	rs11801322
Chromosome Location	chr1:225814811-225814812
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:225813188..225814940-chr1:226168399..226170379,2	K562	blood:
2	chr1:225812132..225816261-chr1:225840645..225843021,5	MCF-7	breast:
3	chr1:225812743..225815583-chr1:225838779..225842082,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000154380	Chromatin interaction

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs10429871	0.86[EUR][1000 genomes]
rs11808089	0.90[AFR][1000 genomes]
rs12027872	0.88[EUR][1000 genomes]
rs12039453	0.86[EUR][1000 genomes]
rs1340868	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1537877	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1537878	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16845078	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17500089	0.81[ASN][1000 genomes]
rs17500562	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17500604	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17500639	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17500679	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17500814	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17500944	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17501138	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17501208	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17501249	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17501775	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17501845	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17501956	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17502068	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17502075	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17502297	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17502774	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17502823	0.98[EUR][1000 genomes]
rs17502858	0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17502961	0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17503792	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17559267	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17559587	0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17560021	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17560215	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17560579	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17561095	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17561221	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17561228	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17561368	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17561451	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17561781	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17562010	0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17562052	0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17568665	0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17569049	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17569145	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17569194	0.90[ASN][1000 genomes]
rs1832229	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1876085	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1876086	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28617210	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3947140	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55865602	0.81[AFR][1000 genomes]
rs55893672	0.83[AFR][1000 genomes]
rs57616580	0.86[AFR][1000 genomes]
rs58221350	0.86[AFR][1000 genomes]
rs59481688	0.90[AFR][1000 genomes]
rs60271197	0.92[AFR][1000 genomes]
rs60588592	0.90[AFR][1000 genomes]
rs6426081	0.97[AFR][1000 genomes]
rs6666276	0.90[AFR][1000 genomes]
rs6687755	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6687947	0.97[AFR][1000 genomes]
rs6696683	0.97[AFR][1000 genomes]
rs6698989	0.90[AFR][1000 genomes]
rs73124025	0.86[AFR][1000 genomes]
rs73125705	0.90[AFR][1000 genomes]
rs73125706	0.83[AFR][1000 genomes]
rs73125707	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7515673	0.94[AFR][1000 genomes]
rs7531033	0.94[AFR][1000 genomes]
rs954615	0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832725	chr1:225726998-225910121	Weak transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:225760000-225820600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr1:225780800-225815400	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr1:225781000-225825400	Weak transcription	Fetal Stomach	stomach
4	chr1:225797200-225815200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr1:225806200-225817600	Weak transcription	Fetal Brain Female	brain
6	chr1:225806400-225815200	Weak transcription	Adipose Nuclei	Adipose
7	chr1:225807200-225820400	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr1:225808200-225818400	Weak transcription	Fetal Brain Male	brain
9	chr1:225809800-225837800	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr1:225810000-225825400	Weak transcription	NHEK	skin
11	chr1:225810600-225815000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr1:225810600-225815200	Weak transcription	Pancreas	Pancrea
13	chr1:225810600-225815600	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr1:225812400-225815800	Enhancers	Fetal Lung	lung
15	chr1:225812400-225816000	Enhancers	Ovary	ovary
16	chr1:225812400-225816000	Enhancers	Stomach Smooth Muscle	stomach
17	chr1:225812600-225816200	Enhancers	Duodenum Smooth Muscle	Duodenum
18	chr1:225812600-225816200	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr1:225812600-225816400	Enhancers	Colon Smooth Muscle	Colon
20	chr1:225812800-225824400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr1:225812800-225825000	Weak transcription	Fetal Muscle Trunk	muscle
22	chr1:225813000-225815200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr1:225813000-225815400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr1:225813200-225815800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr1:225813200-225816000	Enhancers	Skeletal Muscle Female	skeletal muscle
26	chr1:225813200-225816400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr1:225813200-225816400	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr1:225813200-225816400	Enhancers	Rectal Smooth Muscle	rectum
29	chr1:225813400-225815000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr1:225813400-225824800	Weak transcription	Lung	lung
31	chr1:225813600-225815400	Enhancers	Muscle Satellite Cultured Cells	--
32	chr1:225813600-225815800	Enhancers	Brain Substantia Nigra	brain
33	chr1:225813600-225816000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr1:225813600-225837600	Weak transcription	HUVEC	blood vessel
35	chr1:225813800-225815200	Enhancers	Right Ventricle	heart
36	chr1:225813800-225815400	Enhancers	NH-A	brain
37	chr1:225813800-225815600	Enhancers	NHLF	lung
38	chr1:225813800-225815800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr1:225813800-225815800	Enhancers	Left Ventricle	heart
40	chr1:225813800-225815800	Enhancers	Stomach Mucosa	stomach
41	chr1:225813800-225816000	Enhancers	Fetal Intestine Small	intestine
42	chr1:225813800-225816000	Enhancers	Fetal Muscle Leg	muscle
43	chr1:225813800-225816200	Enhancers	Brain Cingulate Gyrus	brain
44	chr1:225813800-225816200	Enhancers	Brain Hippocampus Middle	brain
45	chr1:225813800-225817200	Enhancers	Psoas Muscle	Psoas
46	chr1:225813800-225838600	Weak transcription	HMEC	breast
47	chr1:225814000-225815600	Enhancers	NHDF-Ad	bronchial
48	chr1:225814000-225815800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr1:225814000-225815800	Enhancers	Fetal Intestine Large	intestine
50	chr1:225814000-225816000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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