Variant report

Variant	rs12911449
Chromosome Location	chr15:72617416-72617417
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:72563648..72566288-chr15:72616412..72618175,2	K562	blood:
2	chr15:72615312..72618236-chr15:72766595..72769031,2	MCF-7	breast:
3	chr15:72610134..72612106-chr15:72617260..72618819,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000137817	Chromatin interaction
ENSG00000261423	Chromatin interaction
ENSG00000166233	Chromatin interaction

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs10152588	0.86[AFR][1000 genomes]
rs11072353	0.80[AMR][1000 genomes]
rs11072355	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs11072356	0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs11072357	0.83[JPT][hapmap];0.95[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs11629508	0.82[CHB][hapmap];0.82[JPT][hapmap];0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs11631113	0.84[AMR][1000 genomes]
rs11635828	0.85[ASN][1000 genomes]
rs11636289	0.80[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs11637797	0.84[ASN][1000 genomes]
rs12439392	0.87[EUR][1000 genomes]
rs12440204	1.00[CEU][hapmap]
rs12440435	1.00[CEU][hapmap]
rs12440927	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs12591975	0.97[ASN][1000 genomes]
rs12593082	1.00[CEU][hapmap]
rs12914971	0.82[JPT][hapmap];0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs1426168	1.00[CEU][hapmap]
rs16953770	1.00[CEU][hapmap]
rs16956599	1.00[CEU][hapmap]
rs16956602	1.00[CEU][hapmap]
rs16956723	1.00[CEU][hapmap]
rs2009365	0.96[YRI][hapmap];0.92[AFR][1000 genomes]
rs2162235	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2162236	1.00[YRI][hapmap];0.97[AFR][1000 genomes]
rs2278150	0.83[JPT][hapmap];0.82[AMR][1000 genomes]
rs2288256	1.00[CEU][hapmap]
rs2288258	0.82[CHB][hapmap];0.82[JPT][hapmap];0.83[ASN][1000 genomes]
rs2305705	1.00[CEU][hapmap]
rs28435418	0.97[AFR][1000 genomes]
rs28562796	0.92[AFR][1000 genomes]
rs2912205	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2912226	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2912229	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2959915	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs2959938	0.95[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs3087652	0.82[CHB][hapmap];0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs35949555	0.96[ASN][1000 genomes]
rs3803388	1.00[CEU][hapmap]
rs4442765	1.00[CEU][hapmap]
rs4606667	0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs4776591	0.95[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs4777498	0.80[AMR][1000 genomes]
rs55792138	0.89[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs59262103	0.97[AFR][1000 genomes]
rs59353578	0.80[AMR][1000 genomes]
rs60790003	0.99[AFR][1000 genomes]
rs61481811	0.96[ASN][1000 genomes]
rs6494999	0.96[YRI][hapmap];0.92[AFR][1000 genomes]
rs6495000	1.00[CEU][hapmap];0.83[JPT][hapmap];0.95[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs67849115	0.87[ASN][1000 genomes]
rs7161909	1.00[CEU][hapmap]
rs7165735	1.00[CEU][hapmap]
rs7171446	1.00[CEU][hapmap]
rs7175677	0.97[AFR][1000 genomes]
rs7175907	1.00[CEU][hapmap]
rs7178613	1.00[CEU][hapmap]
rs7179350	0.92[AFR][1000 genomes]
rs7182307	0.99[AFR][1000 genomes]
rs73438485	0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73438486	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73438487	0.82[AFR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8025332	0.97[ASN][1000 genomes]
rs8026600	0.91[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs8026894	1.00[CEU][hapmap]
rs8029218	1.00[CEU][hapmap]
rs8192381	1.00[CEU][hapmap]

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	nsv431395	chr15:72266174-72701777	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
2	nsv530817	chr15:72350885-72773374	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
3	esv3430860	chr15:72373723-72849907	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	172 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:72609800-72624800	Weak transcription	HepG2	liver
2	chr15:72612800-72618600	Weak transcription	Aorta	Aorta
3	chr15:72613000-72618000	Weak transcription	Psoas Muscle	Psoas
4	chr15:72613000-72618400	Weak transcription	Left Ventricle	heart
5	chr15:72613000-72618600	Weak transcription	Lung	lung
6	chr15:72613000-72619200	Weak transcription	Colon Smooth Muscle	Colon
7	chr15:72613000-72631600	Weak transcription	Right Atrium	heart
8	chr15:72613000-72636000	Weak transcription	Right Ventricle	heart
9	chr15:72613000-72636400	Weak transcription	Gastric	stomach
10	chr15:72613000-72637000	Weak transcription	Colonic Mucosa	Colon
11	chr15:72613200-72618400	Weak transcription	Adipose Nuclei	Adipose
12	chr15:72613200-72618400	Weak transcription	Brain Hippocampus Middle	brain
13	chr15:72613200-72618600	Weak transcription	Stomach Smooth Muscle	stomach
14	chr15:72613200-72618800	Weak transcription	Fetal Intestine Large	intestine
15	chr15:72613200-72619200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr15:72613200-72619200	Weak transcription	Fetal Muscle Trunk	muscle
17	chr15:72613200-72619400	Weak transcription	Fetal Stomach	stomach
18	chr15:72613200-72630600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr15:72613200-72630600	Weak transcription	Rectal Smooth Muscle	rectum
20	chr15:72613200-72630800	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr15:72613200-72631600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr15:72613200-72633000	Weak transcription	Thymus	Thymus
23	chr15:72613200-72633600	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr15:72613200-72634200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr15:72613200-72635600	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr15:72613200-72635800	Weak transcription	Pancreas	Pancrea
27	chr15:72613200-72636000	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr15:72613200-72636200	Weak transcription	HSMMtube	muscle
29	chr15:72613200-72651000	Weak transcription	Stomach Mucosa	stomach
30	chr15:72613200-72666800	Weak transcription	Fetal Heart	heart
31	chr15:72613400-72618200	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr15:72613400-72618400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr15:72613400-72618400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr15:72613400-72618400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr15:72613400-72618400	Weak transcription	Monocytes-CD14+_RO01746	blood
36	chr15:72613400-72618600	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr15:72613400-72619200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr15:72613400-72619200	Weak transcription	Placenta	Placenta
39	chr15:72613400-72620600	Weak transcription	Small Intestine	intestine
40	chr15:72613400-72623000	Weak transcription	Brain Cingulate Gyrus	brain
41	chr15:72613400-72623600	Weak transcription	NHLF	lung
42	chr15:72613400-72627400	Weak transcription	NHDF-Ad	bronchial
43	chr15:72613400-72629200	Weak transcription	Brain Anterior Caudate	brain
44	chr15:72613400-72630000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr15:72613400-72630000	Weak transcription	Brain Angular Gyrus	brain
46	chr15:72613400-72630200	Weak transcription	Fetal Brain Male	brain
47	chr15:72613400-72631000	Weak transcription	Hela-S3	cervix
48	chr15:72613400-72632200	Weak transcription	NH-A	brain
49	chr15:72613400-72633600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr15:72613400-72633600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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