Variant report

Variant	rs2698530
Chromosome Location	chr2:64503895-64503896
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:64502984..64504855-chr2:64508634..64511182,2	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1426710	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2251764	0.85[CHD][hapmap];0.89[GIH][hapmap]
rs2555441	0.86[ASN][1000 genomes]
rs2555442	0.85[CHB][hapmap];0.84[JPT][hapmap];0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2698526	0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2698527	0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2698541	0.87[CHD][hapmap];0.89[GIH][hapmap];0.81[MEX][hapmap];0.84[ASN][1000 genomes]
rs869739	0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs871776	0.86[GIH][hapmap]
rs890481	0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs890482	0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531376	chr2:64094322-64521876	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv1013132	chr2:64235175-64631084	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	esv2757803	chr2:64253005-64539556	Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	esv2759055	chr2:64253005-64539556	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
5	nsv428396	chr2:64253005-64539556	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
6	esv34698	chr2:64312142-64521366	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
7	esv34955	chr2:64312182-64521290	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
8	nsv1006553	chr2:64339907-64764771	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
9	nsv9957	chr2:64341714-64518231	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
10	esv13275	chr2:64342247-64515169	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
11	nsv1012905	chr2:64342469-64508983	Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
12	nsv1013735	chr2:64342469-64512286	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
13	esv3693324	chr2:64342469-64513207	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
14	nsv999608	chr2:64342469-64517459	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
15	nsv1000390	chr2:64343861-64512286	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
16	esv2756924	chr2:64349202-64521290	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
17	nsv1004899	chr2:64369300-64513607	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
18	nsv535769	chr2:64369300-64513607	Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
19	nsv1015084	chr2:64369734-64512286	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
20	nsv1005492	chr2:64452441-64588323	Bivalent/Poised TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
21	nsv834244	chr2:64480943-64646259	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Iron status biomarkers	21483845	GWAS catalog

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:64498600-64505000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr2:64498800-64504000	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr2:64499200-64504600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr2:64499200-64505600	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr2:64499200-64507600	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr2:64499400-64504200	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr2:64499400-64504800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr2:64499400-64504800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr2:64499400-64505000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr2:64499400-64505800	Enhancers	H1 Cell Line	embryonic stem cell
11	chr2:64500000-64504800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr2:64500000-64505600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
13	chr2:64500600-64504800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr2:64501000-64504600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr2:64501200-64504000	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr2:64501200-64509600	Weak transcription	GM12878-XiMat	blood
17	chr2:64501400-64504200	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr2:64501400-64504400	Weak transcription	Primary B cells from peripheral blood	blood
19	chr2:64501400-64505000	Enhancers	HUVEC	blood vessel
20	chr2:64501400-64505400	Enhancers	Placenta	Placenta
21	chr2:64501600-64504000	Weak transcription	Aorta	Aorta
22	chr2:64501600-64504000	Weak transcription	Brain Anterior Caudate	brain
23	chr2:64501600-64504000	Weak transcription	Gastric	stomach
24	chr2:64501600-64504200	Weak transcription	K562	blood
25	chr2:64501600-64504600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr2:64501600-64505400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr2:64501600-64505400	Enhancers	HMEC	breast
28	chr2:64501600-64509600	Weak transcription	Colon Smooth Muscle	Colon
29	chr2:64501600-64510200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr2:64501600-64510600	Weak transcription	Colonic Mucosa	Colon
31	chr2:64501800-64505400	Weak transcription	Fetal Lung	lung
32	chr2:64501800-64510600	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr2:64502000-64505000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
34	chr2:64502000-64509600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr2:64502200-64504000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
36	chr2:64502200-64504000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr2:64502200-64504000	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr2:64502200-64504000	Weak transcription	Stomach Mucosa	stomach
39	chr2:64502200-64504200	Weak transcription	Brain Substantia Nigra	brain
40	chr2:64502200-64504200	Weak transcription	Esophagus	oesophagus
41	chr2:64502200-64504200	Weak transcription	Fetal Intestine Large	intestine
42	chr2:64502200-64504200	Weak transcription	Fetal Thymus	thymus
43	chr2:64502200-64509800	Weak transcription	Small Intestine	intestine
44	chr2:64502200-64510200	Weak transcription	Duodenum Mucosa	Duodenum
45	chr2:64502200-64510200	Weak transcription	Fetal Intestine Small	intestine
46	chr2:64502400-64504000	Enhancers	iPS-18 Cell Line	embryonic stem cell
47	chr2:64502400-64504600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr2:64502600-64505000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr2:64502600-64506600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
50	chr2:64502800-64504800	Enhancers	Muscle Satellite Cultured Cells	--

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