Variant report

Variant	rs6749450
Chromosome Location	chr2:46944067-46944068
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10495938	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11889273	0.89[AFR][1000 genomes]
rs11892177	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs11892710	0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11893159	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11893443	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11893955	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11901688	0.88[ASN][1000 genomes]
rs17771005	0.84[AFR][1000 genomes]
rs17771237	0.82[AFR][1000 genomes]
rs17771255	0.82[AFR][1000 genomes]
rs17772309	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs17821941	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17822668	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs17822704	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs41320947	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs41349351	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs41363351	0.84[AMR][1000 genomes]
rs41370847	0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs41375646	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs41379147	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs41432848	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs41478946	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4575769	0.87[AFR][1000 genomes]
rs62134765	0.91[AFR][1000 genomes]
rs6721999	1.00[ASN][1000 genomes]
rs6731970	0.88[AFR][1000 genomes]
rs72802460	0.89[AFR][1000 genomes]
rs7591613	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7606134	0.86[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs9677272	0.93[AFR][1000 genomes]
rs9677705	0.98[AFR][1000 genomes];0.94[AMR][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:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:46928600-46944400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr2:46928800-46946200	Weak transcription	NHEK	skin
3	chr2:46932600-46944200	Weak transcription	Aorta	Aorta
4	chr2:46934000-46944200	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr2:46934000-46947800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr2:46934600-46946400	Weak transcription	HSMM	muscle
7	chr2:46936000-46945000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr2:46936800-46946200	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr2:46937000-46944200	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr2:46940600-46946400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr2:46941200-46944800	ZNF genes & repeats	A549	lung
12	chr2:46941200-46945400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
13	chr2:46941400-46944400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr2:46941400-46945200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr2:46942000-46944200	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr2:46942400-46947800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr2:46942800-46946400	Weak transcription	HUVEC	blood vessel
18	chr2:46942800-46948600	Enhancers	NH-A	brain
19	chr2:46943400-46945200	Weak transcription	Primary T cells from cord blood	blood
20	chr2:46943600-46944200	Enhancers	Liver	Liver
21	chr2:46943600-46944200	ZNF genes & repeats	Thymus	Thymus
22	chr2:46943600-46944400	Enhancers	Left Ventricle	heart
23	chr2:46943600-46944400	Enhancers	Ovary	ovary
24	chr2:46943600-46944400	Enhancers	Pancreas	Pancrea
25	chr2:46943600-46944400	Flanking Active TSS	NHLF	lung
26	chr2:46943600-46944600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr2:46943600-46944600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
28	chr2:46943600-46944600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr2:46943600-46944600	ZNF genes & repeats	Fetal Muscle Leg	muscle
30	chr2:46943600-46945200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr2:46943600-46945600	Flanking Active TSS	Osteobl	bone
32	chr2:46943800-46944200	Enhancers	Adipose Nuclei	Adipose
33	chr2:46943800-46944600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr2:46943800-46944600	ZNF genes & repeats	Primary B cells from cord blood	blood
35	chr2:46943800-46945000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr2:46943800-46945200	Enhancers	HepG2	liver
37	chr2:46943800-46945400	Enhancers	Psoas Muscle	Psoas
38	chr2:46943800-46947800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr2:46943800-46948000	Weak transcription	Fetal Stomach	stomach
40	chr2:46944000-46944600	Enhancers	H9 Cell Line	embryonic stem cell
41	chr2:46944000-46944600	Flanking Active TSS	NHDF-Ad	bronchial
42	chr2:46944000-46944800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr2:46944000-46944800	Weak transcription	Right Atrium	heart
44	chr2:46944000-46944800	Enhancers	Skeletal Muscle Female	skeletal muscle
45	chr2:46944000-46945000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
46	chr2:46944000-46945200	Enhancers	H1 Cell Line	embryonic stem cell
47	chr2:46944000-46945200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr2:46944000-46945400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr2:46944000-46945400	Enhancers	HUES48 Cell Line	embryonic stem cell
50	chr2:46944000-46945400	Enhancers	HUES64 Cell Line	embryonic stem cell

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