Variant report

Variant	rs72683488
Chromosome Location	chr1:113600513-113600514
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:113590314..113592778-chr1:113600467..113602579,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs11102577	0.85[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11102578	0.94[ASN][1000 genomes]
rs11102579	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11102581	0.91[EUR][1000 genomes]
rs11102582	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12140104	0.87[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs1216760	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1216762	0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1216763	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1216766	0.95[ASN][1000 genomes]
rs1216768	0.89[EUR][1000 genomes]
rs1216780	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1216781	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1216790	0.87[ASN][1000 genomes]
rs1216801	0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1216804	0.90[EUR][1000 genomes]
rs12568813	0.81[EUR][1000 genomes]
rs12744009	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12758163	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1419136	0.95[ASN][1000 genomes]
rs1619133	0.90[EUR][1000 genomes]
rs1626085	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17030974	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1728230	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1728238	0.90[EUR][1000 genomes]
rs1766862	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1766863	0.91[EUR][1000 genomes]
rs1766866	0.83[ASN][1000 genomes]
rs1778015	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1778018	0.91[EUR][1000 genomes]
rs1778024	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1778025	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1778027	0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1778028	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2485964	0.89[EUR][1000 genomes]
rs2798686	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2798687	0.95[ASN][1000 genomes]
rs2798689	0.95[ASN][1000 genomes]
rs2840294	0.82[EUR][1000 genomes]
rs3951437	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4025965	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4838975	0.87[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs55894203	0.90[ASN][1000 genomes]
rs9429509	0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002971	chr1:112924725-113740584	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
2	nsv535059	chr1:112924725-113740584	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
3	nsv1010276	chr1:113123932-113740584	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	158 gene(s)	inside rSNPs	diseases
4	nsv1012119	chr1:113214869-113759081	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
5	nsv535060	chr1:113214869-113759081	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
6	nsv529238	chr1:113229946-113759080	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
7	nsv997426	chr1:113288282-113639507	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
8	nsv999915	chr1:113360145-113684833	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats 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	69 gene(s)	inside rSNPs	diseases
9	esv18293	chr1:113375437-113852815	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
10	nsv1007045	chr1:113425222-113839910	Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
11	nsv946146	chr1:113567302-113640814	Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
12	nsv427719	chr1:113570229-114078388	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
13	nsv508537	chr1:113590343-113635803	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
14	nsv437002	chr1:113592588-113658887	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:113585600-113601800	Weak transcription	Fetal Stomach	stomach
2	chr1:113590000-113601400	Weak transcription	Right Atrium	heart
3	chr1:113596600-113601400	Weak transcription	K562	blood
4	chr1:113596800-113601800	Weak transcription	Primary monocytes fromperipheralblood	blood
5	chr1:113596800-113601800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr1:113596800-113601800	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr1:113597400-113601600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr1:113599000-113600800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
9	chr1:113599000-113603000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr1:113599200-113600600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr1:113599600-113600600	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr1:113599600-113600600	Enhancers	HUVEC	blood vessel
13	chr1:113599600-113602200	Enhancers	Fetal Muscle Trunk	muscle
14	chr1:113599800-113600600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr1:113599800-113600600	Enhancers	HepG2	liver
16	chr1:113599800-113601600	Weak transcription	Fetal Intestine Large	intestine
17	chr1:113600000-113601400	Weak transcription	Primary hematopoietic stem cells	blood
18	chr1:113600000-113601400	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr1:113600200-113600800	Weak transcription	Fetal Lung	lung
20	chr1:113600200-113601200	Weak transcription	Fetal Intestine Small	intestine
21	chr1:113600200-113601400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr1:113600200-113601400	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr1:113600200-113601400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr1:113600200-113601400	Weak transcription	Adipose Nuclei	Adipose
25	chr1:113600200-113601400	Weak transcription	Fetal Muscle Leg	muscle
26	chr1:113600200-113601600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr1:113600200-113601600	Weak transcription	Placenta	Placenta
28	chr1:113600200-113601600	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr1:113600200-113601800	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr1:113600400-113601400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr1:113600400-113601400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr1:113600400-113601400	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr1:113600400-113601400	Weak transcription	Fetal Kidney	kidney
34	chr1:113600400-113601400	Weak transcription	Spleen	Spleen
35	chr1:113600400-113601600	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr1:113600400-113601600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr1:113600400-113601600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr1:113600400-113601600	Weak transcription	Left Ventricle	heart
39	chr1:113600400-113601600	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr1:113600400-113601800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr1:113600400-113601800	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr1:113600400-113601800	Weak transcription	Colonic Mucosa	Colon
43	chr1:113600400-113614400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr1:113600400-113614800	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr1:113600400-113615000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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