Variant report

Variant	rs7572397
Chromosome Location	chr2:64356434-64356435
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:64355620..64357775-chr2:64369401..64371432,2	K562	blood:
2	chr2:64352794..64354467-chr2:64356091..64358987,2	K562	blood:
3	chr2:64354212..64356714-chr2:64359310..64361277,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000225889	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10185776	0.90[CHB][hapmap];0.81[CHD][hapmap];0.89[ASN][1000 genomes]
rs10186108	0.90[CHB][hapmap];0.81[CHD][hapmap];0.89[ASN][1000 genomes]
rs10192642	0.90[CHB][hapmap];0.89[ASN][1000 genomes]
rs10496106	0.90[CHB][hapmap];0.89[ASN][1000 genomes]
rs11673747	1.00[CEU][hapmap];1.00[YRI][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11679748	0.81[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.94[TSI][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12624273	0.89[ASN][1000 genomes]
rs1814406	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1837484	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];0.92[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2017834	0.81[CEU][hapmap];0.90[CHB][hapmap];0.81[CHD][hapmap];0.82[MEX][hapmap];0.88[ASN][1000 genomes]
rs2576835	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2576837	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.86[GIH][hapmap];0.92[JPT][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2901645	0.81[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap];0.91[MEX][hapmap];0.94[TSI][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs329481	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs329482	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs329486	0.85[CHB][hapmap]
rs329492	0.85[EUR][1000 genomes]
rs329497	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.83[MKK][hapmap];0.85[TSI][hapmap];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs329498	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs329501	0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs4144251	0.84[CEU][hapmap]
rs4671081	0.89[ASN][1000 genomes]
rs4671082	0.81[CEU][hapmap];0.90[CHB][hapmap];0.89[ASN][1000 genomes]
rs4671548	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55756539	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55837435	0.85[EUR][1000 genomes]
rs61504639	0.87[ASN][1000 genomes]
rs62138486	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6546054	0.80[EUR][1000 genomes]
rs6546055	0.84[CEU][hapmap]
rs714672	0.90[CHB][hapmap];0.89[ASN][1000 genomes]
rs717382	0.90[CHB][hapmap];0.89[ASN][1000 genomes]
rs7558544	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7558568	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7559410	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7563423	0.83[CHB][hapmap];0.89[ASN][1000 genomes]
rs7574193	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7575383	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7577356	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7585957	0.89[ASN][1000 genomes]
rs7604199	0.90[CHB][hapmap];0.82[MEX][hapmap];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 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	nsv834243	chr2:64316514-64476935	ZNF genes & repeats Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:64323600-64364400	Weak transcription	Fetal Brain Male	brain
2	chr2:64335000-64365200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr2:64340400-64370200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:64342000-64365200	Weak transcription	Left Ventricle	heart
5	chr2:64342200-64358600	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr2:64342800-64360600	Weak transcription	K562	blood
7	chr2:64342800-64362200	Weak transcription	Thymus	Thymus
8	chr2:64343800-64361800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr2:64344000-64361000	Weak transcription	Primary hematopoietic stem cells	blood
10	chr2:64344400-64360600	Weak transcription	HUVEC	blood vessel
11	chr2:64344400-64361000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr2:64347400-64368800	Weak transcription	Spleen	Spleen
13	chr2:64347800-64358000	Weak transcription	Fetal Heart	heart
14	chr2:64348400-64357200	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr2:64348400-64364600	Weak transcription	Adipose Nuclei	Adipose
16	chr2:64348400-64366400	Weak transcription	Right Atrium	heart
17	chr2:64348600-64359000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr2:64348600-64359200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr2:64348600-64359400	Weak transcription	Monocytes-CD14+_RO01746	blood
20	chr2:64348600-64361600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr2:64348600-64365200	Weak transcription	Fetal Muscle Leg	muscle
22	chr2:64349000-64359400	Weak transcription	Fetal Thymus	thymus
23	chr2:64349200-64357200	Weak transcription	NHEK	skin
24	chr2:64349800-64363800	Weak transcription	Primary monocytes fromperipheralblood	blood
25	chr2:64350400-64364600	Weak transcription	Primary B cells from cord blood	blood
26	chr2:64350600-64359400	Weak transcription	Primary B cells from peripheral blood	blood
27	chr2:64351200-64359800	Weak transcription	Primary neutrophils fromperipheralblood	blood
28	chr2:64351400-64364400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr2:64353200-64358200	Enhancers	Duodenum Mucosa	Duodenum
30	chr2:64353600-64357800	Enhancers	HepG2	liver
31	chr2:64353800-64356800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
32	chr2:64354200-64358800	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr2:64354400-64356800	Enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr2:64354600-64365200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr2:64354800-64363600	Enhancers	iPS-15b Cell Line	embryonic stem cell
36	chr2:64354800-64364200	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr2:64355000-64357600	Enhancers	iPS-20b Cell Line	embryonic stem cell
38	chr2:64355000-64357800	Enhancers	iPS-18 Cell Line	embryonic stem cell
39	chr2:64355000-64357800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
40	chr2:64355000-64357800	Enhancers	Brain Anterior Caudate	brain
41	chr2:64355000-64357800	Enhancers	Brain Substantia Nigra	brain
42	chr2:64355000-64359400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr2:64355000-64360600	Enhancers	Brain Hippocampus Middle	brain
44	chr2:64355000-64362400	Weak transcription	Small Intestine	intestine
45	chr2:64355200-64356600	Enhancers	Fetal Intestine Small	intestine
46	chr2:64355200-64356800	Enhancers	ES-I3 Cell Line	embryonic stem cell
47	chr2:64355400-64368800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr2:64355600-64356600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
49	chr2:64355600-64357200	Enhancers	Primary T cells from cord blood	blood
50	chr2:64355600-64357200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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