Variant report

Variant	rs2235696
Chromosome Location	chr1:171811469-171811470
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs1022541	0.85[ASN][1000 genomes]
rs1040517	0.85[ASN][1000 genomes]
rs10737338	0.86[ASN][1000 genomes]
rs10753202	0.85[ASN][1000 genomes]
rs10753203	0.83[ASN][1000 genomes]
rs10753204	0.85[ASN][1000 genomes]
rs10753205	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1076700	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10798695	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10798701	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10798702	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10798705	0.86[ASN][1000 genomes]
rs10798706	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10798716	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10798722	0.85[ASN][1000 genomes]
rs10798725	0.85[ASN][1000 genomes]
rs10798726	0.85[ASN][1000 genomes]
rs10913908	0.85[ASN][1000 genomes]
rs1118173	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11808234	0.86[AMR][1000 genomes]
rs12021814	0.83[ASN][1000 genomes]
rs12239702	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12405583	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1535301	0.83[ASN][1000 genomes]
rs1555100	0.83[ASN][1000 genomes]
rs1972340	0.82[ASN][1000 genomes]
rs1980488	0.85[ASN][1000 genomes]
rs2206543	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2421915	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2421947	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2901600	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4500358	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4916235	0.86[ASN][1000 genomes]
rs4916400	0.86[ASN][1000 genomes]
rs4916401	0.86[ASN][1000 genomes]
rs4916402	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4916403	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4916404	0.85[ASN][1000 genomes]
rs6425454	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6425455	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6425456	0.86[ASN][1000 genomes]
rs6425468	0.85[ASN][1000 genomes]
rs6657315	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6660011	0.85[ASN][1000 genomes]
rs6665335	0.86[ASN][1000 genomes]
rs6679341	0.85[ASN][1000 genomes]
rs6683945	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6685974	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6686260	0.83[ASN][1000 genomes]
rs6690848	0.83[ASN][1000 genomes]
rs6701033	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6702944	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71523161	0.83[ASN][1000 genomes]
rs742509	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs742510	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7514627	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7517331	0.86[ASN][1000 genomes]
rs7526653	0.86[ASN][1000 genomes]
rs7554700	0.85[ASN][1000 genomes]
rs7554935	0.85[ASN][1000 genomes]
rs926545	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs926546	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs965051	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3512995	chr1:171329123-171994470	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	esv3512997	chr1:171329123-171994470	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
3	nsv831893	chr1:171802450-171985000	Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	esv3325612	chr1:171809554-171812102	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 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	chr1:171809800-171811600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
2	chr1:171809800-171811600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr1:171809800-171811800	Active TSS	Rectal Smooth Muscle	rectum
4	chr1:171809800-171812000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr1:171809800-171812000	Active TSS	Duodenum Smooth Muscle	Duodenum
6	chr1:171809800-171812200	Active TSS	Pancreatic Islets	Pancreatic Islet
7	chr1:171809800-171812600	Active TSS	Brain Hippocampus Middle	brain
8	chr1:171809800-171812600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
9	chr1:171809800-171813800	Active TSS	Brain Cingulate Gyrus	brain
10	chr1:171810000-171811600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr1:171810000-171811600	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr1:171810000-171811800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr1:171810000-171811800	Active TSS	Left Ventricle	heart
14	chr1:171810000-171811800	Active TSS	Lung	lung
15	chr1:171810000-171812000	Active TSS	H9 Cell Line	embryonic stem cell
16	chr1:171810000-171812000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr1:171810000-171812000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr1:171810000-171812000	Active TSS	Aorta	Aorta
19	chr1:171810000-171812000	Bivalent/Poised TSS	Fetal Intestine Large	intestine
20	chr1:171810000-171812000	Active TSS	Right Atrium	heart
21	chr1:171810200-171811600	Active TSS	Cortex derived primary cultured neurospheres	brain
22	chr1:171810200-171811600	Active TSS	NHDF-Ad	bronchial
23	chr1:171810200-171811800	Bivalent/Poised TSS	Fetal Intestine Small	intestine
24	chr1:171810200-171812000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
25	chr1:171810200-171812000	Active TSS	Breast Myoepithelial Primary Cells	Breast
26	chr1:171810200-171812000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr1:171810200-171812000	Active TSS	Brain Angular Gyrus	brain
28	chr1:171810200-171812200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
29	chr1:171810200-171812200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr1:171810200-171812400	Active TSS	Brain Anterior Caudate	brain
31	chr1:171810200-171813200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr1:171810200-171813200	Active TSS	Brain Substantia Nigra	brain
33	chr1:171810200-171813600	Active TSS	Brain Inferior Temporal Lobe	brain
34	chr1:171810400-171811600	Active TSS	Thymus	Thymus
35	chr1:171810400-171811600	Active TSS	NH-A	brain
36	chr1:171810400-171812000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
37	chr1:171810400-171814000	Active TSS	Fetal Brain Female	brain
38	chr1:171810600-171811600	Bivalent/Poised TSS	HSMMtube	muscle
39	chr1:171810600-171811800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr1:171810600-171811800	Flanking Active TSS	Pancreas	Pancrea
41	chr1:171810600-171812000	Active TSS	Fetal Brain Male	brain
42	chr1:171810800-171811600	Flanking Bivalent TSS/Enh	Placenta	Placenta
43	chr1:171810800-171811800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr1:171810800-171811800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
45	chr1:171810800-171811800	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
46	chr1:171810800-171812000	Flanking Active TSS	Adipose Nuclei	Adipose
47	chr1:171810800-171812000	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
48	chr1:171810800-171812200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr1:171811000-171811800	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
50	chr1:171811000-171811800	Flanking Bivalent TSS/Enh	Primary B cells from peripheral blood	blood

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