Variant report

Variant	rs10179950
Chromosome Location	chr2:47631352-47631353
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:47629900..47631449-chr2:48009384..48011204,2	K562	blood:
2	chr2:47592763..47599978-chr2:47628456..47631890,7	K562	blood:
3	chr2:47630652..47632371-chr2:47633998..47636447,2	MCF-7	breast:
4	chr2:47401987..47404848-chr2:47628320..47632624,5	MCF-7	breast:
5	chr2:47570416..47573787-chr2:47628581..47633320,5	MCF-7	breast:
6	chr2:47595432..47597958-chr2:47630032..47632167,2	K562	blood:
7	chr2:47629202..47631353-chr20:52209184..52210821,2	MCF-7	breast:
8	chr2:47571726..47575826-chr2:47629274..47632481,3	MCF-7	breast:
9	chr2:47595241..47598489-chr2:47628033..47632018,10	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000171940	Chromatin interaction
ENSG00000116062	Chromatin interaction
ENSG00000119888	Chromatin interaction
ENSG00000143933	Chromatin interaction
ENSG00000234690	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10173799	0.88[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs1126497	0.88[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs11686285	0.92[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12999725	0.88[AMR][1000 genomes]
rs1863333	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2162122	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2303426	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3815865	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3923559	0.89[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4952885	0.89[AMR][1000 genomes]
rs62139705	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6544987	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6757310	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs71399026	0.83[AMR][1000 genomes]
rs7587478	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7587654	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817517	chr2:46819371-47715140	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
2	nsv1004828	chr2:47056849-47814482	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
3	nsv531348	chr2:47433147-47827310	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
4	nsv999576	chr2:47506116-47773960	Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 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	chr2:47629200-47631600	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr2:47629200-47632400	Active TSS	H9 Cell Line	embryonic stem cell
3	chr2:47629400-47631400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr2:47629400-47631400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
5	chr2:47629400-47632200	Active TSS	HUES64 Cell Line	embryonic stem cell
6	chr2:47629600-47631400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
7	chr2:47629600-47631400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr2:47629600-47631600	Active TSS	Left Ventricle	heart
9	chr2:47629600-47632000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr2:47629800-47631400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr2:47629800-47631400	Active TSS	iPS-20b Cell Line	embryonic stem cell
12	chr2:47629800-47631600	Active TSS	HUES6 Cell Line	embryonic stem cell
13	chr2:47629800-47631600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr2:47629800-47631600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
15	chr2:47629800-47632000	Active TSS	iPS-15b Cell Line	embryonic stem cell
16	chr2:47629800-47632400	Active TSS	H1 Cell Line	embryonic stem cell
17	chr2:47630000-47631400	Active TSS	K562	blood
18	chr2:47630000-47631600	Active TSS	Brain Germinal Matrix	brain
19	chr2:47630000-47631600	Active TSS	HSMM	muscle
20	chr2:47630000-47632000	Active TSS	iPS-18 Cell Line	embryonic stem cell
21	chr2:47630600-47631400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
22	chr2:47630600-47631600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
23	chr2:47630600-47631600	Flanking Active TSS	Adipose Nuclei	Adipose
24	chr2:47630600-47631800	Flanking Active TSS	Primary hematopoietic stem cells	blood
25	chr2:47630600-47631800	Flanking Active TSS	Thymus	Thymus
26	chr2:47630800-47631400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
27	chr2:47630800-47631400	Flanking Active TSS	Primary B cells from cord blood	blood
28	chr2:47630800-47631400	Flanking Active TSS	Primary B cells from peripheral blood	blood
29	chr2:47630800-47631400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
30	chr2:47630800-47631400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
31	chr2:47630800-47631400	Flanking Active TSS	Liver	Liver
32	chr2:47630800-47631400	Flanking Active TSS	Duodenum Mucosa	Duodenum
33	chr2:47630800-47631400	Flanking Active TSS	Placenta	Placenta
34	chr2:47630800-47631400	Flanking Active TSS	Rectal Smooth Muscle	rectum
35	chr2:47630800-47631400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
36	chr2:47630800-47631600	Flanking Active TSS	Primary T cells from cord blood	blood
37	chr2:47630800-47631600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
38	chr2:47630800-47631600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
39	chr2:47630800-47631600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
40	chr2:47630800-47631600	Flanking Active TSS	NHEK	skin
41	chr2:47630800-47631800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr2:47630800-47631800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
43	chr2:47630800-47631800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
44	chr2:47630800-47631800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr2:47630800-47631800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr2:47630800-47631800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr2:47630800-47631800	Flanking Active TSS	Brain Angular Gyrus	brain
48	chr2:47630800-47631800	Flanking Active TSS	Pancreas	Pancrea
49	chr2:47630800-47631800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
50	chr2:47631000-47631400	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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