Variant report

Variant	rs2148247
Chromosome Location	chr13:48642119-48642120
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	chr13:48641348..48644169-chr13:48669031..48670596,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000136146	Chromatin interaction

Extended variants
information (count: 78 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs11148101	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11148102	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11148103	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11148104	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11148105	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11838821	1.00[EUR][1000 genomes]
rs11840013	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11840146	1.00[EUR][1000 genomes]
rs11841025	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11841089	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11841517	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11842190	1.00[EUR][1000 genomes]
rs11842654	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12427769	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12428098	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12428738	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12428782	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12428797	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12429895	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12429926	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12430608	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12584124	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12584625	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12584738	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12585232	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12585517	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12585580	1.00[EUR][1000 genomes]
rs12585766	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1410116	0.98[ASN][1000 genomes]
rs2296572	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35535367	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3742108	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3782979	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56670154	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57530384	1.00[EUR][1000 genomes]
rs58080658	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59447207	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59845585	1.00[EUR][1000 genomes]
rs59991172	1.00[EUR][1000 genomes]
rs60398625	1.00[EUR][1000 genomes]
rs60718136	1.00[EUR][1000 genomes]
rs60828855	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61403342	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73477042	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73479175	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73479183	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73479186	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73479195	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73479199	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73479200	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73481207	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73481212	1.00[ASN][1000 genomes]
rs73481217	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73481223	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73481228	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73481239	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73481250	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73481261	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73481266	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73481271	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73481288	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73483108	1.00[EUR][1000 genomes]
rs73483122	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73485326	1.00[EUR][1000 genomes]
rs73485330	1.00[EUR][1000 genomes]
rs73485345	1.00[EUR][1000 genomes]
rs73485349	1.00[EUR][1000 genomes]
rs73485356	1.00[EUR][1000 genomes]
rs73487241	1.00[EUR][1000 genomes]
rs73487264	1.00[EUR][1000 genomes]
rs73487269	1.00[EUR][1000 genomes]
rs73489207	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73489232	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73493331	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73493345	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7990408	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes];0.97[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	nsv430556	chr13:48516799-48679099	ZNF genes & repeats Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv832601	chr13:48569952-48735939	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:48612600-48645000	Weak transcription	Stomach Mucosa	stomach
2	chr13:48613200-48642200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr13:48613400-48647000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr13:48613600-48645000	Weak transcription	Small Intestine	intestine
5	chr13:48616400-48642800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr13:48618800-48644800	Weak transcription	Colonic Mucosa	Colon
7	chr13:48623200-48652200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr13:48627400-48642200	Weak transcription	Brain Cingulate Gyrus	brain
9	chr13:48627400-48644800	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr13:48627400-48645000	Weak transcription	Gastric	stomach
11	chr13:48627400-48645200	Weak transcription	Aorta	Aorta
12	chr13:48627600-48642200	Weak transcription	Brain Substantia Nigra	brain
13	chr13:48627800-48644200	Weak transcription	Spleen	Spleen
14	chr13:48628200-48642800	Weak transcription	NHLF	lung
15	chr13:48628400-48644200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr13:48634600-48644800	Weak transcription	Right Ventricle	heart
17	chr13:48636400-48642400	Strong transcription	Monocytes-CD14+_RO01746	blood
18	chr13:48636600-48651400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr13:48636600-48655400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr13:48638200-48650000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
21	chr13:48638800-48651400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
22	chr13:48638800-48651600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr13:48639000-48648800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr13:48639200-48642400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr13:48639400-48642600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr13:48639400-48648600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
27	chr13:48639600-48642800	Strong transcription	Stomach Smooth Muscle	stomach
28	chr13:48639600-48643000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr13:48639600-48643800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
30	chr13:48639600-48649800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
31	chr13:48639800-48642400	Strong transcription	HSMMtube	muscle
32	chr13:48639800-48643000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr13:48639800-48644200	Strong transcription	Primary monocytes fromperipheralblood	blood
34	chr13:48640000-48648600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
35	chr13:48640000-48649800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
36	chr13:48640200-48642200	Strong transcription	Primary B cells from peripheral blood	blood
37	chr13:48640200-48642200	Strong transcription	Skeletal Muscle Female	skeletal muscle
38	chr13:48640200-48642400	ZNF genes & repeats	Placenta	Placenta
39	chr13:48640200-48642600	Strong transcription	Placenta Amnion	Placenta Amnion
40	chr13:48640200-48642800	Strong transcription	Colon Smooth Muscle	Colon
41	chr13:48640200-48642800	Strong transcription	Rectal Mucosa Donor 29	rectum
42	chr13:48640200-48643000	ZNF genes & repeats	GM12878-XiMat	blood
43	chr13:48640200-48643200	ZNF genes & repeats	Primary T cells from cord blood	blood
44	chr13:48640200-48643200	Strong transcription	Primary T helper cells fromperipheralblood	blood
45	chr13:48640200-48643200	ZNF genes & repeats	Brain Germinal Matrix	brain
46	chr13:48640200-48643200	ZNF genes & repeats	HMEC	breast
47	chr13:48640200-48643800	Strong transcription	Osteobl	bone
48	chr13:48640200-48644200	Strong transcription	NH-A	brain
49	chr13:48640200-48646600	ZNF genes & repeats	Adipose Nuclei	Adipose
50	chr13:48640200-48647000	ZNF genes & repeats	Fetal Muscle Trunk	muscle

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