Variant report

Variant	rs12072922
Chromosome Location	chr1:228687796-228687797
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:228640213..228643182-chr1:228687753..228691528,4	K562	blood:
2	chr1:228679606..228682583-chr1:228686059..228688653,3	MCF-7	breast:
3	chr1:228673395..228676826-chr1:228687606..228689787,4	MCF-7	breast:
4	chr1:228674832..228676492-chr1:228686701..228688688,2	MCF-7	breast:
5	chr1:228488772..228491406-chr1:228686065..228688395,2	K562	blood:
6	chr1:228644090..228646860-chr1:228687654..228690447,2	MCF-7	breast:
7	chr1:228679618..228683135-chr1:228687770..228691468,4	MCF-7	breast:
8	chr1:228685736..228688156-chr1:228688679..228691435,2	MCF-7	breast:
9	chr1:228351702..228354665-chr1:228687562..228690395,2	K562	blood:
10	chr1:228684681..228686315-chr1:228686829..228688475,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000196890	Chromatin interaction
ENSG00000203684	Chromatin interaction
ENSG00000270110	Chromatin interaction
ENSG00000154358	Chromatin interaction
ENSG00000168159	Chromatin interaction
ENSG00000181218	Chromatin interaction
ENSG00000181873	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10916330	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10916334	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs12060613	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12063103	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs12066593	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12068246	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12072917	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12080246	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs12084511	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3795809	0.80[CEU][hapmap]
rs3795818	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs4436391	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs4606308	0.83[ASN][1000 genomes]
rs61827301	0.91[ASN][1000 genomes]
rs61827303	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61827304	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6683136	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs72763967	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72763981	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv32853	chr1:227880116-228806209	Enhancers Genic enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	187 gene(s)	inside rSNPs	diseases
2	nsv826908	chr1:227895386-228691100	Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
3	nsv873270	chr1:228442663-228699477	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
4	nsv1009891	chr1:228450763-228742676	Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
5	nsv1013500	chr1:228459134-228849601	Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
6	esv2829948	chr1:228509427-228687948	Bivalent/Poised TSS Active TSS Genic enhancers Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
7	nsv549296	chr1:228585837-228720480	Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	64 gene(s)	inside rSNPs	diseases
8	nsv549297	chr1:228681195-228720480	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
9	nsv468305	chr1:228681195-228731677	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
10	nsv549298	chr1:228681195-228731677	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:228676400-228688600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:228676600-228688800	Weak transcription	HUVEC	blood vessel
3	chr1:228676800-228688400	Weak transcription	Stomach Mucosa	stomach
4	chr1:228676800-228688600	Weak transcription	Small Intestine	intestine
5	chr1:228678400-228688600	Weak transcription	Fetal Brain Male	brain
6	chr1:228678600-228688400	Weak transcription	Hela-S3	cervix
7	chr1:228678800-228688200	Weak transcription	A549	lung
8	chr1:228678800-228688800	Weak transcription	Psoas Muscle	Psoas
9	chr1:228679000-228688600	Weak transcription	Fetal Kidney	kidney
10	chr1:228679000-228688600	Weak transcription	Right Atrium	heart
11	chr1:228679200-228688600	Weak transcription	NH-A	brain
12	chr1:228681800-228688200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr1:228682000-228688200	Weak transcription	HepG2	liver
14	chr1:228682000-228688200	Weak transcription	K562	blood
15	chr1:228682400-228688800	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr1:228682600-228688200	Weak transcription	NHDF-Ad	bronchial
17	chr1:228683000-228687800	Weak transcription	Primary neutrophils fromperipheralblood	blood
18	chr1:228683000-228688600	Weak transcription	HSMMtube	muscle
19	chr1:228683200-228687800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr1:228683200-228688400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr1:228683200-228688600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr1:228683400-228688400	Weak transcription	HMEC	breast
23	chr1:228683400-228688600	Weak transcription	Colon Smooth Muscle	Colon
24	chr1:228683400-228688600	Weak transcription	NHEK	skin
25	chr1:228683400-228688600	Weak transcription	NHLF	lung
26	chr1:228683400-228689000	Weak transcription	Left Ventricle	heart
27	chr1:228683600-228688400	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr1:228683600-228688600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr1:228683800-228688000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr1:228683800-228688000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr1:228683800-228688200	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr1:228683800-228688400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr1:228683800-228688400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr1:228683800-228688400	Weak transcription	Brain Substantia Nigra	brain
35	chr1:228683800-228688600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr1:228683800-228688600	Weak transcription	Brain Germinal Matrix	brain
37	chr1:228683800-228688600	Weak transcription	Colonic Mucosa	Colon
38	chr1:228683800-228688600	Weak transcription	Rectal Smooth Muscle	rectum
39	chr1:228683800-228688600	Weak transcription	Right Ventricle	heart
40	chr1:228684000-228688200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr1:228684000-228688200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr1:228684000-228688400	Weak transcription	Brain Angular Gyrus	brain
43	chr1:228684000-228688400	Weak transcription	Osteobl	bone
44	chr1:228684000-228688600	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr1:228684200-228688000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
46	chr1:228684200-228688000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
47	chr1:228684200-228688000	Weak transcription	Brain Cingulate Gyrus	brain
48	chr1:228684200-228688400	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr1:228684200-228688600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr1:228684200-228688600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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