Variant report

Variant	rs41370847
Chromosome Location	chr2:46934832-46934833
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:46933593..46936563-chr2:46968141..46970927,2	K562	blood:
2	chr2:46925096..46927639-chr2:46929889..46935400,5	MCF-7	breast:
3	chr2:46933207..46934969-chr2:46956262..46957915,2	K562	blood:
4	chr2:46924668..46928828-chr2:46932943..46938478,8	MCF-7	breast:

Variant related genes	Relation type
ENSG00000171150	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10495938	0.88[ASN][1000 genomes]
rs11889273	0.84[AFR][1000 genomes]
rs11892177	0.88[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs11892710	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11893159	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11893443	0.88[ASN][1000 genomes]
rs11893955	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11901688	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11903382	0.85[AFR][1000 genomes]
rs17771005	0.93[AFR][1000 genomes]
rs17771237	0.90[AFR][1000 genomes]
rs17771255	0.90[AFR][1000 genomes]
rs17771357	0.88[AFR][1000 genomes]
rs17772309	0.88[ASN][1000 genomes]
rs17821941	1.00[ASN][1000 genomes]
rs17822668	0.86[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs17822704	0.86[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs41320947	0.88[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs41349351	0.93[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs41375646	0.90[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs41379147	0.88[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs41432848	0.88[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs41478946	0.93[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs4575769	0.83[AFR][1000 genomes]
rs62134765	0.86[AFR][1000 genomes]
rs6721999	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6731970	0.93[AFR][1000 genomes]
rs6749450	0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72802460	0.81[AFR][1000 genomes]
rs7591613	0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7606134	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9677272	0.84[AFR][1000 genomes]
rs9677705	0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014425	chr2:46670179-47033417	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv535678	chr2:46670179-47033417	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv873996	chr2:46670941-47065227	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv533112	chr2:46800828-46959977	Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	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
6	nsv873997	chr2:46821640-46984627	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:46927200-46935800	Weak transcription	Spleen	Spleen
2	chr2:46927800-46940000	Weak transcription	Primary hematopoietic stem cells	blood
3	chr2:46928000-46943600	Weak transcription	Thymus	Thymus
4	chr2:46928600-46944400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr2:46928800-46938600	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr2:46928800-46946200	Weak transcription	NHEK	skin
7	chr2:46929000-46940200	Weak transcription	Fetal Stomach	stomach
8	chr2:46930000-46938400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr2:46930400-46936400	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr2:46931200-46938800	Weak transcription	Primary B cells from cord blood	blood
11	chr2:46931400-46935600	Enhancers	Primary T helper cells PMA-I stimulated	--
12	chr2:46931600-46935000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
13	chr2:46931800-46936800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr2:46932000-46935400	Enhancers	Rectal Smooth Muscle	rectum
15	chr2:46932000-46936000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr2:46932000-46936200	Weak transcription	GM12878-XiMat	blood
17	chr2:46932000-46936400	Enhancers	Adipose Nuclei	Adipose
18	chr2:46932400-46936800	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr2:46932400-46937000	Enhancers	H1 Cell Line	embryonic stem cell
20	chr2:46932400-46938800	Weak transcription	Primary T cells from cord blood	blood
21	chr2:46932600-46935400	Enhancers	Pancreatic Islets	Pancreatic Islet
22	chr2:46932600-46935800	Weak transcription	Gastric	stomach
23	chr2:46932600-46935800	Weak transcription	Pancreas	Pancrea
24	chr2:46932600-46944200	Weak transcription	Aorta	Aorta
25	chr2:46932800-46935200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr2:46932800-46936000	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr2:46933000-46936400	Weak transcription	Stomach Smooth Muscle	stomach
28	chr2:46933000-46943600	Weak transcription	Left Ventricle	heart
29	chr2:46933200-46936800	Enhancers	Skeletal Muscle Male	skeletal muscle
30	chr2:46933400-46936400	Weak transcription	Fetal Lung	lung
31	chr2:46933800-46936600	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr2:46933800-46936600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr2:46933800-46936800	Enhancers	A549	lung
34	chr2:46933800-46936800	Enhancers	HepG2	liver
35	chr2:46933800-46937000	Enhancers	Muscle Satellite Cultured Cells	--
36	chr2:46934000-46935200	Enhancers	Skeletal Muscle Female	skeletal muscle
37	chr2:46934000-46936200	Weak transcription	Right Ventricle	heart
38	chr2:46934000-46937000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr2:46934000-46944200	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr2:46934000-46947800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr2:46934200-46936600	Enhancers	HUES6 Cell Line	embryonic stem cell
42	chr2:46934400-46935200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr2:46934400-46935200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr2:46934400-46935200	Weak transcription	Ovary	ovary
45	chr2:46934400-46935400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr2:46934400-46935400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr2:46934400-46935600	Active TSS	NHLF	lung
48	chr2:46934400-46935800	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr2:46934400-46935800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr2:46934400-46935800	Weak transcription	Psoas Muscle	Psoas

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