Variant report

Variant	rs2288258
Chromosome Location	chr15:72636801-72636802
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:72631785..72633348-chr15:72635376..72637584,2	K562	blood:
2	chr15:72635873..72639008-chr15:72766396..72768888,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000261423	Chromatin interaction
ENSG00000166233	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10438367	0.90[AMR][1000 genomes]
rs10438368	0.90[AMR][1000 genomes]
rs10467945	0.85[AMR][1000 genomes]
rs10468051	0.92[AMR][1000 genomes]
rs11072353	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11072355	0.95[CHD][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs11072356	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11072357	0.92[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11072360	0.90[AMR][1000 genomes]
rs11629508	1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11631113	0.95[JPT][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11635828	0.96[ASN][1000 genomes]
rs11636289	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11637797	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11857752	0.91[MEX][hapmap];0.85[AMR][1000 genomes]
rs12440435	0.88[GIH][hapmap]
rs12440927	0.86[CHD][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs12591975	0.81[ASN][1000 genomes]
rs12592727	0.90[AMR][1000 genomes]
rs12902886	0.85[AMR][1000 genomes]
rs12910617	0.90[AMR][1000 genomes]
rs12911449	0.82[CHB][hapmap];0.82[JPT][hapmap];0.83[ASN][1000 genomes]
rs12914971	0.92[CHB][hapmap];0.87[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12915032	0.82[CHB][hapmap];0.92[CHD][hapmap];0.86[JPT][hapmap];0.91[MEX][hapmap];0.81[ASN][1000 genomes]
rs16956723	0.88[GIH][hapmap]
rs16956771	0.90[AMR][1000 genomes]
rs2162235	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2278150	0.92[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2288259	0.91[MEX][hapmap];0.90[AMR][1000 genomes]
rs2303449	0.91[MEX][hapmap];0.90[AMR][1000 genomes]
rs2303450	0.90[AMR][1000 genomes]
rs2912205	0.83[ASN][1000 genomes]
rs2912226	0.82[CHB][hapmap];0.83[ASN][1000 genomes]
rs2912229	0.85[JPT][hapmap];0.83[ASN][1000 genomes]
rs2959915	0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs2959938	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3087652	1.00[CHB][hapmap];0.95[CHD][hapmap];0.90[GIH][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35949555	0.83[ASN][1000 genomes]
rs4606667	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4776591	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4777498	0.95[JPT][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4777503	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs55792138	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59353578	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6495000	0.92[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73438486	0.81[ASN][1000 genomes]
rs8025332	0.81[ASN][1000 genomes]
rs8026600	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs963375	0.91[MEX][hapmap];0.90[AMR][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	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:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:72613000-72637000	Weak transcription	Colonic Mucosa	Colon
2	chr15:72613200-72651000	Weak transcription	Stomach Mucosa	stomach
3	chr15:72613200-72666800	Weak transcription	Fetal Heart	heart
4	chr15:72613400-72638000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr15:72613400-72667600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr15:72614000-72642400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr15:72619800-72637600	Weak transcription	Psoas Muscle	Psoas
8	chr15:72627800-72650400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr15:72629200-72649600	Strong transcription	Left Ventricle	heart
10	chr15:72629800-72649200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
11	chr15:72630000-72649200	Strong transcription	Skeletal Muscle Female	skeletal muscle
12	chr15:72630200-72656200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
13	chr15:72631000-72641400	Weak transcription	Fetal Brain Male	brain
14	chr15:72631400-72640000	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr15:72632400-72638000	Weak transcription	Small Intestine	intestine
16	chr15:72632400-72650000	Weak transcription	Right Atrium	heart
17	chr15:72632600-72637800	Strong transcription	Fetal Intestine Small	intestine
18	chr15:72632600-72637800	Weak transcription	NHEK	skin
19	chr15:72632600-72649600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr15:72632800-72649400	Strong transcription	Adipose Nuclei	Adipose
21	chr15:72633000-72637600	Weak transcription	HUVEC	blood vessel
22	chr15:72633000-72637800	Weak transcription	NHDF-Ad	bronchial
23	chr15:72633000-72640800	Weak transcription	K562	blood
24	chr15:72633000-72642800	Weak transcription	HMEC	breast
25	chr15:72633000-72650400	Strong transcription	Primary T cells fromperipheralblood	blood
26	chr15:72633000-72651200	Strong transcription	Thymus	Thymus
27	chr15:72633000-72652000	Strong transcription	Fetal Stomach	stomach
28	chr15:72633400-72637600	Strong transcription	Fetal Intestine Large	intestine
29	chr15:72633400-72649400	Strong transcription	Skeletal Muscle Male	skeletal muscle
30	chr15:72633400-72651600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr15:72633600-72645800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr15:72633600-72648200	Strong transcription	Primary monocytes fromperipheralblood	blood
33	chr15:72633600-72648200	Strong transcription	Primary neutrophils fromperipheralblood	blood
34	chr15:72633600-72649200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr15:72633600-72649200	Strong transcription	Brain Inferior Temporal Lobe	brain
36	chr15:72633600-72649400	Strong transcription	Fetal Muscle Leg	muscle
37	chr15:72633600-72649400	Strong transcription	Lung	lung
38	chr15:72633600-72650000	Strong transcription	Brain Cingulate Gyrus	brain
39	chr15:72633600-72650400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr15:72633800-72645400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr15:72633800-72649400	Strong transcription	Monocytes-CD14+_RO01746	blood
42	chr15:72633800-72651200	Strong transcription	Primary B cells from peripheral blood	blood
43	chr15:72634000-72644200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr15:72634000-72649200	Strong transcription	Fetal Brain Female	brain
45	chr15:72634000-72649400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr15:72634000-72649400	Strong transcription	Spleen	Spleen
47	chr15:72634000-72649800	Strong transcription	Sigmoid Colon	Sigmoid Colon
48	chr15:72634000-72650000	Strong transcription	Liver	Liver
49	chr15:72634000-72650800	Strong transcription	Stomach Smooth Muscle	stomach
50	chr15:72634200-72637000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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