Variant report

Variant	rs4953414
Chromosome Location	chr2:46944553-46944554
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:46923183..46926073-chr2:46944483..46946206,2	K562	blood:
2	chr2:46942841..46944899-chr2:46960236..46962227,2	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs1009231	0.81[ASN][1000 genomes]
rs10167561	0.81[ASN][1000 genomes]
rs10168342	0.89[CEU][hapmap];0.87[JPT][hapmap];0.87[ASN][1000 genomes]
rs12466948	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1456009	0.83[CHB][hapmap];0.82[ASN][1000 genomes]
rs1471056	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1471057	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1809216	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1813505	0.83[ASN][1000 genomes]
rs4522653	0.89[CEU][hapmap];0.87[JPT][hapmap];0.87[ASN][1000 genomes]
rs4953416	0.80[ASN][1000 genomes]
rs4953418	0.81[ASN][1000 genomes]
rs6544913	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6544917	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6544918	0.88[ASN][1000 genomes]
rs6544919	0.82[ASN][1000 genomes]
rs6544921	0.82[ASN][1000 genomes]
rs6718677	0.81[ASN][1000 genomes]
rs6727737	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6730949	0.81[ASN][1000 genomes]
rs6741706	0.82[ASN][1000 genomes]
rs6746471	0.85[ASN][1000 genomes]
rs6748938	0.89[CEU][hapmap];0.87[JPT][hapmap];0.87[ASN][1000 genomes]
rs7568007	0.81[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs7570376	0.87[ASN][1000 genomes]
rs7580649	0.82[ASN][1000 genomes]
rs897528	0.89[CEU][hapmap];0.83[ASN][1000 genomes]
rs897529	0.83[CHB][hapmap];0.84[ASN][1000 genomes]
rs991559	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs991742	0.82[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	chr2:46928800-46946200	Weak transcription	NHEK	skin
2	chr2:46934000-46947800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr2:46934600-46946400	Weak transcription	HSMM	muscle
4	chr2:46936000-46945000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr2:46936800-46946200	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr2:46940600-46946400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr2:46941200-46944800	ZNF genes & repeats	A549	lung
8	chr2:46941200-46945400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
9	chr2:46941400-46945200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr2:46942400-46947800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr2:46942800-46946400	Weak transcription	HUVEC	blood vessel
12	chr2:46942800-46948600	Enhancers	NH-A	brain
13	chr2:46943400-46945200	Weak transcription	Primary T cells from cord blood	blood
14	chr2:46943600-46944600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr2:46943600-46944600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
16	chr2:46943600-46944600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr2:46943600-46944600	ZNF genes & repeats	Fetal Muscle Leg	muscle
18	chr2:46943600-46945200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr2:46943600-46945600	Flanking Active TSS	Osteobl	bone
20	chr2:46943800-46944600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr2:46943800-46944600	ZNF genes & repeats	Primary B cells from cord blood	blood
22	chr2:46943800-46945000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr2:46943800-46945200	Enhancers	HepG2	liver
24	chr2:46943800-46945400	Enhancers	Psoas Muscle	Psoas
25	chr2:46943800-46947800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr2:46943800-46948000	Weak transcription	Fetal Stomach	stomach
27	chr2:46944000-46944600	Enhancers	H9 Cell Line	embryonic stem cell
28	chr2:46944000-46944600	Flanking Active TSS	NHDF-Ad	bronchial
29	chr2:46944000-46944800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr2:46944000-46944800	Weak transcription	Right Atrium	heart
31	chr2:46944000-46944800	Enhancers	Skeletal Muscle Female	skeletal muscle
32	chr2:46944000-46945000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr2:46944000-46945200	Enhancers	H1 Cell Line	embryonic stem cell
34	chr2:46944000-46945200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr2:46944000-46945400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr2:46944000-46945400	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr2:46944000-46945400	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr2:46944000-46945400	Enhancers	iPS-18 Cell Line	embryonic stem cell
39	chr2:46944000-46945600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr2:46944000-46946400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr2:46944000-46946600	Weak transcription	Fetal Thymus	thymus
42	chr2:46944200-46944600	Flanking Active TSS	Adipose Nuclei	Adipose
43	chr2:46944200-46944600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
44	chr2:46944200-46945000	Enhancers	Muscle Satellite Cultured Cells	--
45	chr2:46944200-46945000	Flanking Active TSS	Liver	Liver
46	chr2:46944200-46945000	Enhancers	Stomach Smooth Muscle	stomach
47	chr2:46944200-46945200	Enhancers	Aorta	Aorta
48	chr2:46944200-46945400	Enhancers	HUES6 Cell Line	embryonic stem cell
49	chr2:46944200-46945400	Enhancers	iPS-20b Cell Line	embryonic stem cell
50	chr2:46944200-46945400	Enhancers	Colon Smooth Muscle	Colon

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