Variant report

Variant	rs2501838
Chromosome Location	chr1:212929998-212929999
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

rs_ID	r²[population]
rs10864008	0.81[ASN][1000 genomes]
rs1298196	0.83[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs2244935	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2359321	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2456814	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2492783	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2492786	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2492787	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2501836	0.86[ASN][1000 genomes]
rs2501837	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2792558	0.85[EUR][1000 genomes]
rs3006239	0.81[AFR][1000 genomes]
rs3006242	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58172415	0.81[ASN][1000 genomes]
rs73083789	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013110	chr1:212555764-212948092	Flanking Active TSS Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
2	nsv535287	chr1:212555764-212948092	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
3	nsv549148	chr1:212876902-212962207	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
4	nsv1001637	chr1:212907611-213034606	Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
5	nsv1005983	chr1:212917531-212947521	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	esv2756884	chr1:212925429-213006397	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
7	esv2758997	chr1:212925429-213006397	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212895400-212964600	Weak transcription	Pancreas	Pancrea
2	chr1:212895600-212964600	Weak transcription	Gastric	stomach
3	chr1:212898800-212934000	Weak transcription	Fetal Muscle Trunk	muscle
4	chr1:212900400-212932600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr1:212900400-212936200	Weak transcription	Aorta	Aorta
6	chr1:212901400-212954000	Weak transcription	NH-A	brain
7	chr1:212902200-212941800	Weak transcription	Fetal Kidney	kidney
8	chr1:212902600-212943600	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr1:212908000-212933200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr1:212912000-212935800	Weak transcription	K562	blood
11	chr1:212915400-212932600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr1:212915400-212933400	Weak transcription	Ovary	ovary
13	chr1:212915400-212934400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr1:212915400-212936000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr1:212915400-212942000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr1:212917600-212931200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr1:212918800-212930400	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr1:212922200-212939600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr1:212923600-212932800	Weak transcription	Fetal Intestine Large	intestine
20	chr1:212923600-212935400	Weak transcription	Lung	lung
21	chr1:212923600-212956200	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr1:212923600-212963800	Weak transcription	Brain Angular Gyrus	brain
23	chr1:212923600-212964400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr1:212923800-212931000	Weak transcription	Dnd41	blood
25	chr1:212923800-212932600	Weak transcription	Spleen	Spleen
26	chr1:212923800-212935800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr1:212923800-212935800	Weak transcription	Placenta	Placenta
28	chr1:212923800-212947200	Weak transcription	A549	lung
29	chr1:212923800-212957600	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr1:212923800-212964200	Weak transcription	HMEC	breast
31	chr1:212924000-212930000	Weak transcription	Fetal Muscle Leg	muscle
32	chr1:212924000-212930200	Weak transcription	HepG2	liver
33	chr1:212924000-212954200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr1:212926600-212933800	Weak transcription	HSMM	muscle
35	chr1:212926600-212939600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr1:212926600-212941800	Weak transcription	Stomach Smooth Muscle	stomach
37	chr1:212926600-212954200	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr1:212926600-212963400	Weak transcription	Rectal Smooth Muscle	rectum
39	chr1:212926800-212930000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr1:212926800-212930400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr1:212926800-212930400	Weak transcription	Duodenum Mucosa	Duodenum
42	chr1:212926800-212930600	Weak transcription	Fetal Lung	lung
43	chr1:212926800-212932800	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr1:212926800-212934000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr1:212926800-212936000	Weak transcription	Esophagus	oesophagus
46	chr1:212926800-212939600	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr1:212926800-212940600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr1:212926800-212940800	Weak transcription	NHLF	lung
49	chr1:212926800-212942200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr1:212926800-212942400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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