Variant report

Variant	rs13407719
Chromosome Location	chr2:73291508-73291509
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:73291387..73294181-chr2:73302370..73305699,3	K562	blood:
2	chr2:73282639..73284806-chr2:73290205..73292291,2	K562	blood:
3	chr2:73275006..73276805-chr2:73291193..73293194,2	K562	blood:
4	chr2:73287986..73293083-chr2:73295177..73299013,8	MCF-7	breast:
5	chr2:73265411..73268407-chr2:73291214..73293056,2	K562	blood:
6	chr2:73289263..73291570-chr2:73296158..73299685,4	MCF-7	breast:
7	chr2:73291484..73293366-chr2:73295204..73297283,3	K562	blood:

Variant related genes	Relation type
ENSG00000144040	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs10167566	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10174548	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10180720	0.90[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs10180995	0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs10190861	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs10192077	0.86[AMR][1000 genomes]
rs10203608	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1046186	0.84[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs10865396	0.81[ASN][1000 genomes]
rs11126389	0.81[ASN][1000 genomes]
rs11686557	0.88[ASN][1000 genomes]
rs11885522	0.92[ASN][1000 genomes]
rs12104691	0.87[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12614059	0.84[ASN][1000 genomes]
rs13018842	0.81[ASN][1000 genomes]
rs13385994	0.84[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs13390072	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs13391532	0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs13393567	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs13400920	0.88[ASN][1000 genomes]
rs13400948	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13403757	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13403781	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13416407	0.95[ASN][1000 genomes]
rs13427947	0.89[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs1430349	0.86[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs1430350	0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs1430351	0.92[ASN][1000 genomes]
rs17008631	0.84[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs1864488	0.89[ASN][1000 genomes]
rs1992133	0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs3813222	0.95[ASN][1000 genomes]
rs3813223	0.90[ASN][1000 genomes]
rs3901273	0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4591365	0.92[ASN][1000 genomes]
rs55894650	0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs57536428	0.90[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs57701326	0.92[ASN][1000 genomes]
rs57726945	0.88[ASN][1000 genomes]
rs57937746	0.86[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs6546800	0.94[ASN][1000 genomes]
rs6546801	0.89[ASN][1000 genomes]
rs6710739	0.88[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs6710755	0.89[ASN][1000 genomes]
rs6712925	0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6713655	0.80[AMR][1000 genomes]
rs6720817	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6727269	0.82[AMR][1000 genomes]
rs6727919	0.94[ASN][1000 genomes]
rs6729266	0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6736153	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6749237	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6754779	0.81[AMR][1000 genomes]
rs6754858	0.84[AMR][1000 genomes]
rs727470	0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs727471	0.94[ASN][1000 genomes]
rs7557173	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7559074	0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7559340	0.94[ASN][1000 genomes]
rs7566904	0.86[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs7593322	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7599657	0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7602651	0.88[ASN][1000 genomes]
rs891432	0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs891433	0.94[ASN][1000 genomes]
rs9309471	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002295	chr2:73216155-73350391	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:73275800-73297000	Weak transcription	Pancreas	Pancrea
2	chr2:73284600-73296600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr2:73284800-73296400	Weak transcription	Fetal Kidney	kidney
4	chr2:73285000-73295600	Weak transcription	Primary B cells from cord blood	blood
5	chr2:73285000-73295800	Weak transcription	Rectal Smooth Muscle	rectum
6	chr2:73285000-73296000	Weak transcription	Adipose Nuclei	Adipose
7	chr2:73285000-73296000	Weak transcription	Gastric	stomach
8	chr2:73285000-73296000	Weak transcription	Thymus	Thymus
9	chr2:73285000-73296600	Weak transcription	Placenta	Placenta
10	chr2:73285000-73296600	Weak transcription	Ovary	ovary
11	chr2:73285200-73295800	Weak transcription	Stomach Smooth Muscle	stomach
12	chr2:73285200-73296400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr2:73285600-73291800	Weak transcription	Fetal Thymus	thymus
14	chr2:73285800-73295200	Weak transcription	Dnd41	blood
15	chr2:73285800-73295600	Weak transcription	Primary hematopoietic stem cells	blood
16	chr2:73285800-73295600	Weak transcription	Aorta	Aorta
17	chr2:73286000-73296800	Weak transcription	Fetal Stomach	stomach
18	chr2:73286200-73293000	Weak transcription	Primary T cells from cord blood	blood
19	chr2:73286200-73295600	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr2:73286200-73296000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr2:73286200-73296400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr2:73286400-73293000	Weak transcription	Primary monocytes fromperipheralblood	blood
23	chr2:73286400-73296000	Weak transcription	Brain Germinal Matrix	brain
24	chr2:73286600-73295800	Weak transcription	Spleen	Spleen
25	chr2:73287400-73295800	Weak transcription	Fetal Brain Female	brain
26	chr2:73289400-73292000	Enhancers	Left Ventricle	heart
27	chr2:73289400-73292200	Enhancers	Right Ventricle	heart
28	chr2:73289400-73292800	Enhancers	Skeletal Muscle Female	skeletal muscle
29	chr2:73289400-73295200	Enhancers	Liver	Liver
30	chr2:73289600-73292200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr2:73289800-73291800	Enhancers	Brain Substantia Nigra	brain
32	chr2:73289800-73292000	Enhancers	NHDF-Ad	bronchial
33	chr2:73290000-73291800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr2:73290000-73291800	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr2:73290000-73291800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr2:73290000-73292000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr2:73290000-73292000	Enhancers	HSMM	muscle
38	chr2:73290000-73292200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr2:73290000-73292200	Enhancers	HUVEC	blood vessel
40	chr2:73290000-73292400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr2:73290000-73292400	Enhancers	Cortex derived primary cultured neurospheres	brain
42	chr2:73290000-73292600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr2:73290000-73293000	Enhancers	NHLF	lung
44	chr2:73290000-73293400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
45	chr2:73290200-73295800	Weak transcription	Fetal Lung	lung
46	chr2:73290400-73291600	Enhancers	Stomach Mucosa	stomach
47	chr2:73290400-73292000	Enhancers	Fetal Intestine Large	intestine
48	chr2:73290400-73292200	Enhancers	HMEC	breast
49	chr2:73290600-73291600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
50	chr2:73290600-73291600	Enhancers	Brain Angular Gyrus	brain

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