Variant report

Variant	rs10167566
Chromosome Location	chr2:73285146-73285147
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:73284849..73288387-chr2:73297041..73300553,5	K562	blood:

Variant related genes	Relation type
ENSG00000144040	Chromatin interaction

Extended variants
information (count: 100 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:99)

rs_ID	r²[population]
rs10166220	0.82[CEU][hapmap];0.96[JPT][hapmap];0.81[AMR][1000 genomes]
rs10174548	0.93[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10176939	0.82[CEU][hapmap];0.91[JPT][hapmap]
rs10177159	0.87[JPT][hapmap]
rs10178944	0.81[AMR][1000 genomes]
rs10180720	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10180995	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs10189744	0.82[CEU][hapmap];0.95[JPT][hapmap]
rs10190861	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs10192077	0.86[CEU][hapmap];0.91[JPT][hapmap];0.87[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs10197305	0.80[CEU][hapmap];0.90[JPT][hapmap]
rs10203608	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1046186	0.84[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs10865396	0.82[ASN][1000 genomes]
rs11126389	0.82[ASN][1000 genomes]
rs11686557	0.87[ASN][1000 genomes]
rs11885522	0.92[ASN][1000 genomes]
rs12104691	0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12233055	0.86[CEU][hapmap];0.86[JPT][hapmap]
rs12614059	0.84[ASN][1000 genomes]
rs13018842	0.82[ASN][1000 genomes]
rs13385994	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs13388404	0.95[JPT][hapmap]
rs13390072	0.83[AMR][1000 genomes]
rs13391532	0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs13393567	0.88[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs13400920	0.95[CHB][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs13400948	0.93[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13403757	0.93[CEU][hapmap];1.00[CHB][hapmap];0.96[JPT][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13403781	0.93[CEU][hapmap];1.00[CHB][hapmap];0.96[JPT][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13407719	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13416407	1.00[CHB][hapmap];0.91[JPT][hapmap];0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs13427947	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs1370383	0.85[CEU][hapmap];0.81[JPT][hapmap]
rs1430349	0.80[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs1430350	0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs1430351	0.92[ASN][1000 genomes]
rs17008571	0.91[JPT][hapmap]
rs17008611	0.80[CEU][hapmap];0.86[JPT][hapmap]
rs17008631	0.87[CEU][hapmap];1.00[CHB][hapmap];0.96[JPT][hapmap];0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs1864488	0.95[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs1992133	0.86[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2421098	0.95[JPT][hapmap]
rs3813222	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs3813223	0.89[ASN][1000 genomes]
rs3901273	1.00[CHB][hapmap];0.95[JPT][hapmap];0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4144837	0.87[CEU][hapmap];0.95[JPT][hapmap];0.85[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs4514897	0.95[JPT][hapmap]
rs4591365	0.92[ASN][1000 genomes]
rs55894650	0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs57536428	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs57701326	0.92[ASN][1000 genomes]
rs57726945	0.88[ASN][1000 genomes]
rs57937746	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6546796	0.80[CEU][hapmap];0.85[JPT][hapmap]
rs6546797	0.80[CEU][hapmap];0.86[JPT][hapmap]
rs6546800	1.00[CHB][hapmap];0.95[JPT][hapmap];0.87[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs6546801	0.88[ASN][1000 genomes]
rs6709938	0.91[JPT][hapmap]
rs6710739	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs6710755	0.95[CHB][hapmap];0.91[JPT][hapmap];0.88[ASN][1000 genomes]
rs6711891	0.80[CEU][hapmap];0.90[JPT][hapmap]
rs6712925	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs6713655	0.87[AMR][1000 genomes]
rs6719333	0.82[CEU][hapmap];0.95[JPT][hapmap];0.81[AFR][1000 genomes]
rs6720817	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6726940	0.87[JPT][hapmap]
rs6727269	0.87[AMR][1000 genomes]
rs6727919	0.86[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs6729266	0.93[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6732369	0.80[CEU][hapmap];0.95[JPT][hapmap]
rs6736153	0.93[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6749237	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6750069	0.82[CEU][hapmap];0.91[JPT][hapmap]
rs6754779	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs6754858	0.84[AMR][1000 genomes]
rs6757131	0.82[CEU][hapmap];0.91[JPT][hapmap]
rs6759733	0.86[CEU][hapmap];0.85[JPT][hapmap]
rs727470	0.82[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs727471	0.94[ASN][1000 genomes]
rs732178	0.82[CEU][hapmap];0.82[JPT][hapmap]
rs732179	0.82[CEU][hapmap];0.87[JPT][hapmap]
rs732180	0.86[CEU][hapmap];0.86[JPT][hapmap]
rs7557173	0.86[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7559074	0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7559340	0.80[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.87[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7566904	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7570876	0.95[JPT][hapmap];0.81[AFR][1000 genomes]
rs7579770	0.91[JPT][hapmap]
rs7580216	0.86[CEU][hapmap];0.86[JPT][hapmap]
rs7593322	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7597032	0.91[JPT][hapmap]
rs7599657	0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7602651	0.80[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs891432	0.82[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs891433	0.86[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs893258	0.91[JPT][hapmap]
rs893259	0.80[CEU][hapmap];0.90[JPT][hapmap]
rs9309471	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[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:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:73214200-73286400	Weak transcription	Psoas Muscle	Psoas
2	chr2:73249400-73290000	Weak transcription	HUVEC	blood vessel
3	chr2:73249600-73290000	Weak transcription	NHLF	lung
4	chr2:73256800-73290000	Weak transcription	HSMM	muscle
5	chr2:73259200-73291200	Weak transcription	Small Intestine	intestine
6	chr2:73262800-73290600	Weak transcription	NHEK	skin
7	chr2:73264200-73290600	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr2:73267800-73289400	Weak transcription	K562	blood
9	chr2:73268600-73289400	Weak transcription	Right Ventricle	heart
10	chr2:73272600-73291200	Weak transcription	Fetal Heart	heart
11	chr2:73275800-73297000	Weak transcription	Pancreas	Pancrea
12	chr2:73277800-73285800	Weak transcription	Fetal Brain Male	brain
13	chr2:73277800-73290400	Weak transcription	HMEC	breast
14	chr2:73277800-73290800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr2:73277800-73291200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr2:73281200-73289800	Weak transcription	NHDF-Ad	bronchial
17	chr2:73281600-73285200	Strong transcription	Stomach Smooth Muscle	stomach
18	chr2:73283000-73285200	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr2:73283200-73285800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
20	chr2:73283400-73285200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr2:73283400-73285800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr2:73283400-73286000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr2:73283400-73286400	ZNF genes & repeats	Fetal Intestine Small	intestine
24	chr2:73283600-73285200	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
25	chr2:73283600-73285200	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
26	chr2:73283600-73285200	ZNF genes & repeats	Fetal Brain Female	brain
27	chr2:73283600-73285400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr2:73283600-73285800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr2:73283600-73286000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr2:73283600-73286400	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
31	chr2:73283800-73285200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
32	chr2:73283800-73285200	ZNF genes & repeats	Primary B cells from peripheral blood	blood
33	chr2:73283800-73285200	ZNF genes & repeats	Brain Substantia Nigra	brain
34	chr2:73283800-73285400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr2:73283800-73285400	ZNF genes & repeats	A549	lung
36	chr2:73283800-73285600	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr2:73283800-73285800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
38	chr2:73283800-73285800	ZNF genes & repeats	Dnd41	blood
39	chr2:73283800-73286200	Strong transcription	Primary T cells from cord blood	blood
40	chr2:73283800-73286200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr2:73284000-73285200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr2:73284000-73285600	Strong transcription	Skeletal Muscle Male	skeletal muscle
43	chr2:73284000-73285800	Strong transcription	Left Ventricle	heart
44	chr2:73284000-73286400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr2:73284200-73285200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr2:73284200-73285200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr2:73284200-73285600	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr2:73284200-73285600	Strong transcription	Osteobl	bone
49	chr2:73284200-73285800	ZNF genes & repeats	Aorta	Aorta
50	chr2:73284200-73285800	Strong transcription	Skeletal Muscle Female	skeletal muscle

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