Variant report

Variant	rs60338887
Chromosome Location	chr2:64325637-64325638
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	chr2:64325352..64327561-chr2:64332535..64335174,2	K562	blood:

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10169847	0.93[ASN][1000 genomes]
rs10170224	0.93[ASN][1000 genomes]
rs10175483	0.93[ASN][1000 genomes]
rs10191854	0.93[ASN][1000 genomes]
rs10192104	0.86[AFR][1000 genomes]
rs10204631	0.84[AFR][1000 genomes]
rs13408188	0.93[ASN][1000 genomes]
rs13412068	0.93[ASN][1000 genomes]
rs13419918	0.93[ASN][1000 genomes]
rs13428357	0.93[ASN][1000 genomes]
rs3731962	0.93[ASN][1000 genomes]
rs3755112	0.93[ASN][1000 genomes]
rs56028117	0.93[ASN][1000 genomes]
rs56301411	0.93[ASN][1000 genomes]
rs60012302	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs60882934	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7579828	0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:64313200-64341800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:64316800-64326200	Strong transcription	Primary T cells from cord blood	blood
3	chr2:64316800-64327400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr2:64316800-64327800	Strong transcription	Fetal Thymus	thymus
5	chr2:64317000-64328000	Strong transcription	Rectal Mucosa Donor 29	rectum
6	chr2:64317200-64335600	Strong transcription	Primary neutrophils fromperipheralblood	blood
7	chr2:64317600-64327000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
8	chr2:64317800-64333200	Strong transcription	Primary monocytes fromperipheralblood	blood
9	chr2:64318200-64333600	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr2:64318400-64327000	Strong transcription	Liver	Liver
11	chr2:64318400-64327400	Strong transcription	Placenta	Placenta
12	chr2:64318400-64327600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr2:64318400-64327800	Strong transcription	H1 Cell Line	embryonic stem cell
14	chr2:64318400-64327800	Strong transcription	Rectal Mucosa Donor 31	rectum
15	chr2:64318400-64328000	Strong transcription	HUES6 Cell Line	embryonic stem cell
16	chr2:64318400-64335600	Strong transcription	HUES48 Cell Line	embryonic stem cell
17	chr2:64318800-64327000	Strong transcription	Primary T helper cells PMA-I stimulated	--
18	chr2:64318800-64336400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr2:64319600-64327600	Strong transcription	HUVEC	blood vessel
20	chr2:64319800-64327000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr2:64320200-64328000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
22	chr2:64320400-64326200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr2:64320400-64339200	Weak transcription	NHLF	lung
24	chr2:64320600-64326200	Strong transcription	Primary T helper cells fromperipheralblood	blood
25	chr2:64320600-64327400	Strong transcription	Duodenum Mucosa	Duodenum
26	chr2:64320600-64332200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr2:64320800-64327800	Strong transcription	Duodenum Smooth Muscle	Duodenum
28	chr2:64321000-64327400	Strong transcription	Primary T cells fromperipheralblood	blood
29	chr2:64321000-64332200	Weak transcription	Hela-S3	cervix
30	chr2:64321200-64330400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr2:64321600-64327000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr2:64321600-64327800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr2:64321800-64326000	Strong transcription	Cortex derived primary cultured neurospheres	brain
34	chr2:64321800-64327400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr2:64321800-64328400	Strong transcription	HepG2	liver
36	chr2:64322200-64336200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr2:64322400-64336000	Strong transcription	HUES64 Cell Line	embryonic stem cell
38	chr2:64322800-64332400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
39	chr2:64322800-64335800	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr2:64323400-64328600	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr2:64323400-64329800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr2:64323400-64333200	Weak transcription	Pancreas	Pancrea
43	chr2:64323400-64334000	Weak transcription	Esophagus	oesophagus
44	chr2:64323400-64341400	Weak transcription	Aorta	Aorta
45	chr2:64323600-64325800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
46	chr2:64323600-64326000	Strong transcription	Primary B cells from cord blood	blood
47	chr2:64323600-64328000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr2:64323600-64328200	Weak transcription	NH-A	brain
49	chr2:64323600-64330000	Weak transcription	Fetal Intestine Small	intestine
50	chr2:64323600-64330200	Weak transcription	Stomach Mucosa	stomach

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