Variant report

Variant	rs61829227
Chromosome Location	chr1:212921375-212921376
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10863990	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs10863993	0.82[AFR][1000 genomes]
rs11120011	0.81[AMR][1000 genomes]
rs11120012	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs11120024	0.82[AFR][1000 genomes]
rs12125321	0.85[AFR][1000 genomes]
rs12132316	0.85[AFR][1000 genomes]
rs12136046	0.82[AFR][1000 genomes]
rs12136834	0.82[AFR][1000 genomes]
rs12725274	0.82[AFR][1000 genomes]
rs12741704	0.82[AFR][1000 genomes]
rs12747251	0.87[AFR][1000 genomes]
rs12759287	0.86[AFR][1000 genomes]
rs34274815	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3820679	0.82[AFR][1000 genomes]
rs4951463	0.82[AFR][1000 genomes]
rs6540761	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs6540763	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs6661720	0.82[AFR][1000 genomes]
rs6669492	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs6679350	0.82[AFR][1000 genomes]
rs6679549	0.82[AFR][1000 genomes]
rs6690689	0.82[AFR][1000 genomes]
rs6694452	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs6702025	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs6702611	0.82[AFR][1000 genomes]
rs7556272	0.82[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212895200-212922800	Weak transcription	Left Ventricle	heart
2	chr1:212895400-212923200	Weak transcription	Brain Cingulate Gyrus	brain
3	chr1:212895400-212923400	Weak transcription	Fetal Muscle Leg	muscle
4	chr1:212895400-212923400	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr1:212895400-212926400	Weak transcription	Esophagus	oesophagus
6	chr1:212895400-212964600	Weak transcription	Pancreas	Pancrea
7	chr1:212895600-212923000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr1:212895600-212923400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr1:212895600-212964600	Weak transcription	Gastric	stomach
10	chr1:212895800-212925600	Weak transcription	Small Intestine	intestine
11	chr1:212895800-212926200	Weak transcription	Hela-S3	cervix
12	chr1:212898600-212923200	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr1:212898800-212934000	Weak transcription	Fetal Muscle Trunk	muscle
14	chr1:212899800-212926400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr1:212900400-212923200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr1:212900400-212927600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr1:212900400-212932600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr1:212900400-212936200	Weak transcription	Aorta	Aorta
19	chr1:212901400-212954000	Weak transcription	NH-A	brain
20	chr1:212901600-212923000	Weak transcription	HSMM	muscle
21	chr1:212902200-212941800	Weak transcription	Fetal Kidney	kidney
22	chr1:212902600-212943600	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr1:212903000-212923400	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr1:212903200-212923400	Weak transcription	Duodenum Mucosa	Duodenum
25	chr1:212903600-212926400	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr1:212904200-212923200	Weak transcription	Adipose Nuclei	Adipose
27	chr1:212904800-212926200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr1:212905200-212923200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr1:212905200-212923400	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr1:212905600-212923400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr1:212906200-212923400	Weak transcription	HMEC	breast
32	chr1:212906800-212923400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr1:212908000-212933200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr1:212909400-212923200	Weak transcription	Primary B cells from peripheral blood	blood
35	chr1:212911000-212922800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr1:212911600-212923000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr1:212912000-212923200	Weak transcription	Liver	Liver
38	chr1:212912000-212935800	Weak transcription	K562	blood
39	chr1:212912200-212925800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr1:212913000-212923000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr1:212913600-212923200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr1:212913600-212923400	Weak transcription	NHEK	skin
43	chr1:212914800-212923400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr1:212915000-212925800	Weak transcription	Pancreatic Islets	Pancreatic Islet
45	chr1:212915200-212923400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr1:212915400-212923000	Weak transcription	Primary monocytes fromperipheralblood	blood
47	chr1:212915400-212923400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr1:212915400-212923400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr1:212915400-212923400	Weak transcription	Dnd41	blood
50	chr1:212915400-212925600	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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