Variant report

Variant	rs28913570
Chromosome Location	chr1:179080514-179080515
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10913700	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10913704	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs11584312	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11584434	0.83[AMR][1000 genomes]
rs11584705	1.00[ASN][1000 genomes]
rs11589113	1.00[ASN][1000 genomes]
rs12120194	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12122267	0.83[AMR][1000 genomes]
rs12126360	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12127868	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs12128447	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12129054	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12132268	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12133704	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12133855	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs12134611	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs12140256	0.83[AMR][1000 genomes]
rs12145184	0.83[AMR][1000 genomes]
rs1318056	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1490311	1.00[ASN][1000 genomes]
rs16853640	1.00[ASN][1000 genomes]
rs17362373	0.83[AMR][1000 genomes]
rs2636278	0.81[AFR][1000 genomes]
rs28913877	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs28914503	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28914510	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56949555	1.00[ASN][1000 genomes]
rs57903944	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60358932	0.83[AMR][1000 genomes]
rs73038859	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73038874	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73038878	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73044740	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73044744	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73044747	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs73044749	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73044753	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73044761	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73044765	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs73044767	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs73044776	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73044778	0.83[AMR][1000 genomes]
rs73044802	0.83[AMR][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	nsv1002511	chr1:179077914-179089842	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region miRNA target site	1 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	chr1:179053200-179096000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:179059200-179096400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr1:179059400-179090400	Strong transcription	HUVEC	blood vessel
4	chr1:179061400-179090400	Strong transcription	HSMM	muscle
5	chr1:179062000-179088000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr1:179063200-179112000	Weak transcription	Fetal Kidney	kidney
7	chr1:179064800-179097800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr1:179070400-179087200	Weak transcription	Psoas Muscle	Psoas
9	chr1:179071400-179090400	Strong transcription	NHDF-Ad	bronchial
10	chr1:179072000-179090400	Strong transcription	Osteobl	bone
11	chr1:179072200-179090000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr1:179074200-179088200	Strong transcription	NHEK	skin
13	chr1:179074200-179091000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr1:179074400-179088200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr1:179074600-179083000	Strong transcription	Primary T cells from cord blood	blood
16	chr1:179075200-179091200	Strong transcription	NHLF	lung
17	chr1:179075400-179084200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr1:179075400-179091000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr1:179075400-179091400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr1:179075400-179096200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
21	chr1:179075600-179081000	Strong transcription	Fetal Brain Female	brain
22	chr1:179075600-179081800	Strong transcription	HUES6 Cell Line	embryonic stem cell
23	chr1:179075600-179082000	Strong transcription	Cortex derived primary cultured neurospheres	brain
24	chr1:179075600-179082200	Strong transcription	Placenta	Placenta
25	chr1:179075600-179082800	Strong transcription	Stomach Smooth Muscle	stomach
26	chr1:179075600-179084000	Strong transcription	Monocytes-CD14+_RO01746	blood
27	chr1:179075600-179089200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr1:179075800-179081000	Strong transcription	Primary T cells fromperipheralblood	blood
29	chr1:179075800-179081600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr1:179075800-179082400	Strong transcription	Brain Angular Gyrus	brain
31	chr1:179075800-179082400	Strong transcription	Duodenum Smooth Muscle	Duodenum
32	chr1:179075800-179082800	Strong transcription	Fetal Intestine Large	intestine
33	chr1:179075800-179082800	Strong transcription	Rectal Mucosa Donor 29	rectum
34	chr1:179075800-179083600	Strong transcription	Lung	lung
35	chr1:179075800-179084600	Strong transcription	A549	lung
36	chr1:179075800-179089600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
37	chr1:179076000-179080800	Strong transcription	Brain Inferior Temporal Lobe	brain
38	chr1:179076000-179081600	Strong transcription	HUES48 Cell Line	embryonic stem cell
39	chr1:179076000-179081600	Strong transcription	Primary B cells from peripheral blood	blood
40	chr1:179076000-179081600	Strong transcription	Ovary	ovary
41	chr1:179076000-179081800	Strong transcription	Fetal Thymus	thymus
42	chr1:179076000-179082400	Strong transcription	HUES64 Cell Line	embryonic stem cell
43	chr1:179076000-179082600	Strong transcription	Duodenum Mucosa	Duodenum
44	chr1:179076000-179083600	Strong transcription	Fetal Intestine Small	intestine
45	chr1:179076000-179088200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr1:179076000-179090400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr1:179076200-179081600	Strong transcription	Thymus	Thymus
48	chr1:179076200-179081800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr1:179076200-179081800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr1:179076200-179082800	Strong transcription	Colon Smooth Muscle	Colon

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