Variant report

Variant	rs2448539
Chromosome Location	chr10:50015211-50015212
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:50012510..50015290-chr10:50020965..50023375,3	MCF-7	breast:
2	chr10:50013766..50016503-chr10:50352628..50354357,2	MCF-7	breast:
3	chr10:50010501..50012813-chr10:50013892..50016790,2	K562	blood:

Variant related genes	Relation type
ENSG00000128815	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10776647	0.96[CEU][hapmap];0.86[CHB][hapmap];0.84[CHD][hapmap];0.98[TSI][hapmap];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10776648	0.96[CEU][hapmap];0.84[CHB][hapmap];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10857655	0.86[CHB][hapmap];0.87[ASN][1000 genomes]
rs11101511	0.85[CHB][hapmap];0.86[JPT][hapmap];0.92[ASN][1000 genomes]
rs11101529	0.96[CEU][hapmap];0.86[CHB][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11101530	0.87[ASN][1000 genomes]
rs11101531	0.84[CHB][hapmap];0.87[ASN][1000 genomes]
rs11101532	0.87[ASN][1000 genomes]
rs2002587	0.87[ASN][1000 genomes]
rs2002588	0.86[CHB][hapmap];0.87[ASN][1000 genomes]
rs2127590	0.93[CHB][hapmap];0.88[JPT][hapmap]
rs2170132	0.93[CHB][hapmap];0.88[JPT][hapmap]
rs2250389	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2448540	1.00[CHB][hapmap];0.88[JPT][hapmap];0.98[ASN][1000 genomes]
rs2448545	0.85[CEU][hapmap];0.91[CHB][hapmap];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2457214	1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[JPT][hapmap];0.98[ASN][1000 genomes]
rs2620888	0.86[CHB][hapmap]
rs2620891	0.89[CEU][hapmap];0.86[CHB][hapmap];0.84[CHD][hapmap];0.83[MEX][hapmap];0.95[TSI][hapmap];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2620896	0.93[CHB][hapmap];0.88[JPT][hapmap];0.92[ASN][1000 genomes]
rs2620898	0.92[CEU][hapmap];0.85[CHB][hapmap];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2620904	0.90[CEU][hapmap];0.85[CHB][hapmap];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2663044	0.93[CHB][hapmap];0.88[JPT][hapmap]
rs2663051	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2663052	0.87[TSI][hapmap]
rs2928401	0.88[JPT][hapmap]
rs2940727	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35932562	0.87[ASN][1000 genomes]
rs3747872	0.86[CHB][hapmap];0.84[CHD][hapmap];0.87[ASN][1000 genomes]
rs3747873	0.87[ASN][1000 genomes]
rs3747874	0.96[CEU][hapmap];0.86[CHB][hapmap];0.84[CHD][hapmap];0.87[MEX][hapmap];0.98[TSI][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3747875	0.86[CHB][hapmap];0.84[CHD][hapmap];0.87[ASN][1000 genomes]
rs3747877	0.87[ASN][1000 genomes]
rs3860188	0.86[CHB][hapmap];0.87[ASN][1000 genomes]
rs3860189	0.86[ASN][1000 genomes]
rs3860190	0.87[ASN][1000 genomes]
rs6537576	0.93[CHB][hapmap];0.88[JPT][hapmap]
rs6537580	0.92[CHB][hapmap];0.87[ASN][1000 genomes]
rs7078312	0.80[EUR][1000 genomes]
rs7079766	0.86[CHB][hapmap];0.87[ASN][1000 genomes]
rs7093474	0.87[ASN][1000 genomes]
rs726786	0.93[CHB][hapmap];0.88[JPT][hapmap]
rs7900138	0.86[CHB][hapmap];0.84[CHD][hapmap]
rs7913005	0.86[CHB][hapmap];0.84[CHD][hapmap];0.84[ASN][1000 genomes]
rs7919656	1.00[CEU][hapmap];0.84[CHD][hapmap];1.00[GIH][hapmap];0.98[TSI][hapmap];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7922169	0.89[TSI][hapmap];0.82[EUR][1000 genomes]
rs877819	0.86[CHB][hapmap];0.84[CHD][hapmap];0.87[ASN][1000 genomes]
rs877820	0.87[ASN][1000 genomes]
rs877821	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv895371	chr10:49492075-50232180	Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
2	nsv831865	chr10:49994254-50164239	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:50005200-50026800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr10:50007200-50017200	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr10:50009600-50028000	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr10:50010800-50016000	Enhancers	Fetal Thymus	thymus
5	chr10:50011200-50015400	Enhancers	Fetal Muscle Leg	muscle
6	chr10:50011200-50016600	Genic enhancers	Primary neutrophils fromperipheralblood	blood
7	chr10:50011400-50016200	Genic enhancers	Primary monocytes fromperipheralblood	blood
8	chr10:50011600-50016200	Genic enhancers	Monocytes-CD14+_RO01746	blood
9	chr10:50011600-50017000	Enhancers	Fetal Stomach	stomach
10	chr10:50012800-50016600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr10:50012800-50016800	Enhancers	NHEK	skin
12	chr10:50013000-50016600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr10:50013200-50023800	Strong transcription	GM12878-XiMat	blood
14	chr10:50013600-50028200	Strong transcription	Primary B cells from peripheral blood	blood
15	chr10:50013600-50061000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr10:50014200-50016600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
17	chr10:50014200-50017200	Weak transcription	Pancreas	Pancrea
18	chr10:50014200-50017400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr10:50014200-50030000	Weak transcription	Right Atrium	heart
20	chr10:50014400-50016000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr10:50014600-50015800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr10:50014600-50016800	Enhancers	Primary T cells from cord blood	blood
23	chr10:50014600-50017000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr10:50014600-50017600	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr10:50014600-50019400	Weak transcription	Brain Substantia Nigra	brain
26	chr10:50014600-50019800	Weak transcription	Left Ventricle	heart
27	chr10:50014600-50020800	Strong transcription	Primary hematopoietic stem cells	blood
28	chr10:50014600-50021800	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr10:50014800-50016000	Weak transcription	Brain Germinal Matrix	brain
30	chr10:50014800-50016000	Weak transcription	Fetal Lung	lung
31	chr10:50014800-50016200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr10:50014800-50016600	Weak transcription	Spleen	Spleen
33	chr10:50014800-50017200	Weak transcription	Lung	lung
34	chr10:50014800-50017400	Weak transcription	Brain Angular Gyrus	brain
35	chr10:50014800-50018600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr10:50014800-50019600	Weak transcription	NHLF	lung
37	chr10:50014800-50020600	Weak transcription	Adipose Nuclei	Adipose
38	chr10:50014800-50020800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr10:50014800-50020800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr10:50015000-50018400	Weak transcription	Fetal Muscle Trunk	muscle
41	chr10:50015000-50023000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
42	chr10:50015200-50063400	Strong transcription	Primary B cells from cord blood	blood

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