Variant report

Variant	rs61836846
Chromosome Location	chr18:13751721-13751722
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	chr18:13742512..13744112-chr18:13750806..13753626,2	K562	blood:
2	chr18:13746385..13748103-chr18:13750449..13752681,2	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs12403569	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12404684	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12404693	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12408596	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12408643	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12409532	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4658982	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4658985	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4659086	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4659087	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4659088	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6665297	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7551487	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7553115	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs881879	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs881881	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531246	chr18:13298774-14082028	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv868866	chr18:13604747-14089409	Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Strong transcription Genic enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	nsv458032	chr18:13606184-14150724	Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv576529	chr18:13606184-14150724	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv1055304	chr18:13671427-13777902	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
6	nsv543658	chr18:13671427-13777902	Active TSS Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:13727600-13752200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr18:13727800-13756400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr18:13728200-13756200	Weak transcription	Fetal Heart	heart
4	chr18:13728200-13757200	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr18:13730000-13756800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr18:13730400-13757200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr18:13730600-13756400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr18:13731000-13761800	Strong transcription	Primary B cells from peripheral blood	blood
9	chr18:13731400-13761800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr18:13731400-13762200	Strong transcription	Primary T cells fromperipheralblood	blood
11	chr18:13731400-13762600	Strong transcription	HUES64 Cell Line	embryonic stem cell
12	chr18:13731600-13759600	Strong transcription	Rectal Mucosa Donor 29	rectum
13	chr18:13731600-13762200	Strong transcription	Placenta	Placenta
14	chr18:13732000-13763800	Strong transcription	Primary T helper cells PMA-I stimulated	--
15	chr18:13732600-13760200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr18:13732600-13763200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr18:13733000-13759400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr18:13733400-13762200	Strong transcription	Duodenum Mucosa	Duodenum
19	chr18:13733400-13763600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr18:13733800-13756400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr18:13734200-13759000	Strong transcription	Skeletal Muscle Female	skeletal muscle
22	chr18:13735800-13756600	Strong transcription	Primary hematopoietic stem cells	blood
23	chr18:13735800-13764800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr18:13737000-13753000	Strong transcription	Fetal Muscle Trunk	muscle
25	chr18:13737200-13762400	Strong transcription	Left Ventricle	heart
26	chr18:13737400-13752000	Weak transcription	Stomach Mucosa	stomach
27	chr18:13737800-13757200	Weak transcription	Psoas Muscle	Psoas
28	chr18:13743000-13754200	Weak transcription	Colonic Mucosa	Colon
29	chr18:13743000-13774600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr18:13744400-13759400	Strong transcription	Primary T cells from cord blood	blood
31	chr18:13744600-13763200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr18:13745800-13753800	Weak transcription	Small Intestine	intestine
33	chr18:13746600-13752400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr18:13746800-13754200	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr18:13747000-13754600	Weak transcription	NHEK	skin
36	chr18:13747600-13753800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr18:13747800-13753600	Weak transcription	Esophagus	oesophagus
38	chr18:13747800-13754600	Weak transcription	HUVEC	blood vessel
39	chr18:13748200-13754000	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr18:13748400-13753400	Weak transcription	Rectal Smooth Muscle	rectum
41	chr18:13748400-13754400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr18:13748600-13752200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr18:13748600-13752200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr18:13748600-13752200	Weak transcription	Brain Angular Gyrus	brain
45	chr18:13748600-13752400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
46	chr18:13748600-13752600	Weak transcription	HMEC	breast
47	chr18:13748600-13753200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr18:13748600-13753200	Weak transcription	Aorta	Aorta
49	chr18:13748600-13753200	Weak transcription	Gastric	stomach
50	chr18:13748600-13753400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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