Variant report

Variant	rs73927942
Chromosome Location	chr2:48339042-48339043
allele	C/T
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:25)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:25 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:48338567..48340069-chr2:48340476..48342562,2	K562	blood:
2	chr2:48337633..48340704-chr2:48540027..48544191,8	MCF-7	breast:
3	chr2:48334851..48336463-chr2:48336834..48339382,2	K562	blood:
4	chr2:48337985..48339413-chr2:48647520..48648569,36	MCF-7	breast:
5	chr2:48337971..48339938-chr2:48647597..48648547,19	K562	blood:
6	chr2:48338775..48341219-chr2:48373264..48375327,2	K562	blood:
7	chr2:48337910..48340125-chr2:48569442..48571000,2	MCF-7	breast:
8	chr2:48336673..48339163-chr2:48642028..48644836,2	K562	blood:
9	chr2:48333955..48336351-chr2:48337662..48339382,2	K562	blood:
10	chr2:48337578..48340434-chr2:48697185..48699414,2	MCF-7	breast:
11	chr2:48338091..48339096-chr2:48541137..48542325,6	MCF-7	breast:
12	chr2:48338863..48340413-chr2:48353804..48355488,2	MCF-7	breast:
13	chr14:77786713..77787244-chr2:48338531..48339263,2	HCT-116	colon:
14	chr2:48338352..48340381-chr2:48619344..48622319,2	K562	blood:
15	chr2:48337775..48340265-chr2:48597214..48600170,2	MCF-7	breast:
16	chr2:48336922..48340984-chr2:48645140..48651052,10	MCF-7	breast:
17	chr2:48336515..48341862-chr2:48539044..48543633,11	MCF-7	breast:
18	chr2:48337671..48340205-chr2:48664640..48667465,2	MCF-7	breast:
19	chr2:48337730..48339827-chr2:48662908..48664410,2	MCF-7	breast:
20	chr2:48337576..48339769-chr2:48655484..48657436,2	MCF-7	breast:
21	chr2:48131582..48133722-chr2:48336786..48340166,3	MCF-7	breast:
22	chr2:48338316..48339109-chr2:48541708..48542303,2	MCF-7	breast:
23	chr2:48337553..48343006-chr2:48644200..48649231,9	MCF-7	breast:
24	chr2:48337844..48339737-chr2:48667787..48670405,2	K562	blood:
25	chr2:48337541..48339290-chr2:48647557..48648526,13	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000162869	Chromatin interaction
ENSG00000009830	Chromatin interaction
ENSG00000170802	Chromatin interaction
ENSG00000100577	Chromatin interaction
ENSG00000233230	Chromatin interaction
ENSG00000138081	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs11893417	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11897391	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11898242	1.00[AMR][1000 genomes]
rs11899162	1.00[AMR][1000 genomes]
rs11901147	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1396827	1.00[AMR][1000 genomes]
rs1483211	1.00[AMR][1000 genomes]
rs1483212	1.00[AMR][1000 genomes]
rs17037095	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17037118	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17037121	1.00[AMR][1000 genomes]
rs17037139	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17037152	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17037198	1.00[AMR][1000 genomes]
rs28702589	1.00[AMR][1000 genomes]
rs2881937	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55876292	1.00[AMR][1000 genomes]
rs55877668	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56136838	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56162077	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56244209	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57023060	1.00[AMR][1000 genomes]
rs57488672	1.00[AMR][1000 genomes]
rs58394027	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60806982	1.00[AMR][1000 genomes]
rs61615260	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73927914	1.00[AMR][1000 genomes]
rs73927920	1.00[AMR][1000 genomes]
rs73927925	1.00[AMR][1000 genomes]
rs73927926	1.00[AMR][1000 genomes]
rs73927927	1.00[AMR][1000 genomes]
rs73927928	1.00[AMR][1000 genomes]
rs73927929	1.00[AMR][1000 genomes]
rs73927931	1.00[AMR][1000 genomes]
rs73927934	1.00[AMR][1000 genomes]
rs73927935	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73927937	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73927938	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73927940	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73927945	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73927946	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73927949	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73927950	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73927951	1.00[AMR][1000 genomes]
rs73927955	1.00[AMR][1000 genomes]
rs73927956	1.00[AMR][1000 genomes]
rs73927960	1.00[AMR][1000 genomes]
rs73927961	1.00[AMR][1000 genomes]
rs73927962	1.00[AMR][1000 genomes]
rs7568794	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009769	chr2:47972642-48509765	Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers 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	36 gene(s)	inside rSNPs	diseases
2	nsv535680	chr2:47972642-48509765	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats 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	36 gene(s)	inside rSNPs	diseases
3	nsv530831	chr2:48059709-48632317	Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer 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	30 gene(s)	inside rSNPs	diseases
4	nsv519831	chr2:48072855-48566031	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	nsv1003766	chr2:48102244-48559654	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
6	nsv1000455	chr2:48202161-48362638	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv581773	chr2:48277490-48443109	Flanking Active TSS Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:48337800-48339600	Active TSS	Rectal Mucosa Donor 29	rectum
2	chr2:48338000-48339600	Active TSS	Brain Germinal Matrix	brain
3	chr2:48338200-48339200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
4	chr2:48338200-48339200	Active TSS	Primary T cells from cord blood	blood
5	chr2:48338200-48339200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr2:48338200-48339200	Active TSS	Fetal Heart	heart
7	chr2:48338200-48339200	Active TSS	Fetal Kidney	kidney
8	chr2:48338200-48339200	Active TSS	Pancreas	Pancrea
9	chr2:48338200-48339200	Active TSS	GM12878-XiMat	blood
10	chr2:48338200-48339400	Active TSS	Aorta	Aorta
11	chr2:48338200-48339600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr2:48338200-48339600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr2:48338200-48339600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
14	chr2:48338200-48339600	Active TSS	Duodenum Smooth Muscle	Duodenum
15	chr2:48338200-48339600	Active TSS	Pancreatic Islets	Pancreatic Islet
16	chr2:48338200-48339600	Active TSS	Right Atrium	heart
17	chr2:48338200-48339600	Flanking Active TSS	Dnd41	blood
18	chr2:48338200-48339800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr2:48338400-48339200	Active TSS	H1 Cell Line	embryonic stem cell
20	chr2:48338400-48339200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr2:48338400-48339200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr2:48338400-48339200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr2:48338400-48339200	Active TSS	H9 Cell Line	embryonic stem cell
24	chr2:48338400-48339200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr2:48338400-48339200	Active TSS	HUES48 Cell Line	embryonic stem cell
26	chr2:48338400-48339200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr2:48338400-48339200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr2:48338400-48339200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr2:48338400-48339200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr2:48338400-48339200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr2:48338400-48339200	Active TSS	Primary monocytes fromperipheralblood	blood
32	chr2:48338400-48339200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
33	chr2:48338400-48339200	Active TSS	Primary T killer memory cells from peripheral blood	blood
34	chr2:48338400-48339200	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr2:48338400-48339200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr2:48338400-48339200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr2:48338400-48339200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr2:48338400-48339200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr2:48338400-48339200	Active TSS	Brain Angular Gyrus	brain
40	chr2:48338400-48339200	Active TSS	Duodenum Mucosa	Duodenum
41	chr2:48338400-48339200	Active TSS	Esophagus	oesophagus
42	chr2:48338400-48339200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
43	chr2:48338400-48339200	Active TSS	Fetal Intestine Large	intestine
44	chr2:48338400-48339200	Active TSS	Fetal Intestine Small	intestine
45	chr2:48338400-48339200	Active TSS	Placenta	Placenta
46	chr2:48338400-48339200	Active TSS	Fetal Stomach	stomach
47	chr2:48338400-48339200	Active TSS	Placenta Amnion	Placenta Amnion
48	chr2:48338400-48339200	Active TSS	Skeletal Muscle Male	skeletal muscle
49	chr2:48338400-48339200	Active TSS	Skeletal Muscle Female	skeletal muscle
50	chr2:48338400-48339200	Active TSS	Thymus	Thymus

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