Variant report

Variant	rs2555429
Chromosome Location	chr2:64507842-64507843
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	chr2:64507097..64508875-chr2:64512473..64514723,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1030408	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1534684	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2555417	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2555424	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2555431	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2555432	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2555447	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2555450	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2555451	0.82[AFR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2555454	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2698540	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7560580	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7562531	0.92[ASN][1000 genomes]
rs883021	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs930019	0.82[EUR][1000 genomes];0.92[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

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:64501200-64509600	Weak transcription	GM12878-XiMat	blood
2	chr2:64501600-64509600	Weak transcription	Colon Smooth Muscle	Colon
3	chr2:64501600-64510200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr2:64501600-64510600	Weak transcription	Colonic Mucosa	Colon
5	chr2:64501800-64510600	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr2:64502000-64509600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr2:64502200-64509800	Weak transcription	Small Intestine	intestine
8	chr2:64502200-64510200	Weak transcription	Duodenum Mucosa	Duodenum
9	chr2:64502200-64510200	Weak transcription	Fetal Intestine Small	intestine
10	chr2:64504400-64509800	Weak transcription	Fetal Thymus	thymus
11	chr2:64504400-64515400	Weak transcription	Right Atrium	heart
12	chr2:64504800-64509600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr2:64504800-64509600	Weak transcription	Fetal Muscle Leg	muscle
14	chr2:64504800-64509800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr2:64504800-64510000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr2:64504800-64510200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr2:64504800-64510200	Weak transcription	Fetal Muscle Trunk	muscle
18	chr2:64504800-64510200	Weak transcription	Lung	lung
19	chr2:64504800-64510400	Weak transcription	Rectal Smooth Muscle	rectum
20	chr2:64504800-64510600	Weak transcription	Fetal Intestine Large	intestine
21	chr2:64504800-64510600	Weak transcription	Stomach Smooth Muscle	stomach
22	chr2:64504800-64511200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr2:64504800-64511800	Weak transcription	HSMMtube	muscle
24	chr2:64504800-64518000	Weak transcription	Aorta	Aorta
25	chr2:64505000-64509600	Weak transcription	Primary B cells from peripheral blood	blood
26	chr2:64505000-64510800	Weak transcription	NHLF	lung
27	chr2:64505000-64512000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr2:64505400-64510000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr2:64505400-64510000	Weak transcription	Placenta	Placenta
30	chr2:64505400-64511000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr2:64505400-64511400	Weak transcription	Brain Cingulate Gyrus	brain
32	chr2:64505600-64511400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr2:64505800-64509800	Weak transcription	Primary B cells from cord blood	blood
34	chr2:64505800-64509800	Weak transcription	Primary hematopoietic stem cells	blood
35	chr2:64505800-64510000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr2:64506000-64509600	Weak transcription	Primary monocytes fromperipheralblood	blood
37	chr2:64506200-64509600	Weak transcription	Monocytes-CD14+_RO01746	blood
38	chr2:64506600-64508000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr2:64507400-64508800	Genic enhancers	Primary neutrophils fromperipheralblood	blood
40	chr2:64507600-64509000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr2:64507600-64510000	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr2:64507600-64510800	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr2:64507800-64514000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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