Variant report

Variant	rs11120329
Chromosome Location	chr1:214638584-214638585
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 84 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:83)

rs_ID	r²[population]
rs10157143	0.82[YRI][hapmap]
rs10158490	0.82[YRI][hapmap]
rs10159086	1.00[YRI][hapmap]
rs10159464	0.90[YRI][hapmap]
rs10494980	0.83[JPT][hapmap];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10746445	1.00[CHB][hapmap];0.92[JPT][hapmap]
rs10746446	0.83[CHB][hapmap];0.90[JPT][hapmap]
rs10864100	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10864101	0.91[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10864102	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10864103	0.85[CHB][hapmap];0.82[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11120330	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11120331	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11120332	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11120333	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12068677	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12096551	0.81[JPT][hapmap]
rs12128034	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12739305	0.90[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12739336	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12743237	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12757384	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12757776	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17023030	0.91[CEU][hapmap];0.92[CHB][hapmap];0.89[JPT][hapmap];0.81[YRI][hapmap]
rs17790562	0.82[YRI][hapmap]
rs4130486	0.83[CHB][hapmap];0.92[JPT][hapmap]
rs4145623	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4233301	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4233302	0.85[CHB][hapmap];0.82[YRI][hapmap];0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4233303	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4233304	0.85[CHB][hapmap];0.82[YRI][hapmap];0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4233305	1.00[CHB][hapmap];0.92[JPT][hapmap]
rs4233306	0.85[JPT][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4233307	0.92[CHB][hapmap];0.90[JPT][hapmap]
rs4269744	0.85[CHB][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4284238	0.85[CHB][hapmap];0.82[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4474219	0.85[CHB][hapmap];0.82[YRI][hapmap];0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4480328	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4539105	0.92[CHB][hapmap]
rs4571940	0.82[YRI][hapmap];0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4655250	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4655251	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4655252	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4655253	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4655254	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4655255	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.90[YRI][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4655256	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4655258	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4655259	0.85[CHB][hapmap];0.82[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4655347	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4655348	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4655349	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4655350	0.85[CHB][hapmap];0.83[JPT][hapmap];0.82[YRI][hapmap];0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4655351	0.85[CHB][hapmap];0.83[JPT][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4655352	0.91[CEU][hapmap];0.86[JPT][hapmap];0.82[YRI][hapmap];0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4655355	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs5020616	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5020617	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6540830	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6540835	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6540836	1.00[CHB][hapmap];0.92[JPT][hapmap]
rs6540838	0.86[CEU][hapmap];0.85[CHB][hapmap];0.86[JPT][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6540839	0.92[CHB][hapmap];0.90[JPT][hapmap]
rs6540841	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6661786	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6668440	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6676807	0.85[CHB][hapmap];0.82[YRI][hapmap];0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6676956	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6682847	0.84[CHB][hapmap];0.83[JPT][hapmap];0.82[YRI][hapmap];0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6682987	0.92[CHB][hapmap];0.92[JPT][hapmap]
rs6684018	0.82[YRI][hapmap];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6685434	0.85[CHB][hapmap];0.82[YRI][hapmap];0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6689084	0.85[CHB][hapmap];0.85[JPT][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6691633	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7518513	0.91[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7525020	0.85[CHB][hapmap];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7527320	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7528315	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7531610	0.85[CHB][hapmap];0.82[YRI][hapmap];0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7537274	0.92[CHB][hapmap];0.90[JPT][hapmap]
rs7540188	0.83[JPT][hapmap];0.82[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7540288	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7555415	0.92[CHB][hapmap];0.90[JPT][hapmap]

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	esv275028	chr1:214637808-214639253	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:214613000-214649400	Weak transcription	Lung	lung
2	chr1:214621000-214639800	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr1:214625800-214644800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr1:214627200-214640000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr1:214628600-214640600	Weak transcription	Right Atrium	heart
6	chr1:214628800-214639400	Weak transcription	Stomach Mucosa	stomach
7	chr1:214629200-214644800	Weak transcription	Psoas Muscle	Psoas
8	chr1:214634000-214638600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr1:214634200-214640000	Weak transcription	Fetal Kidney	kidney
10	chr1:214634400-214639800	Weak transcription	Fetal Lung	lung
11	chr1:214634400-214639800	Weak transcription	A549	lung
12	chr1:214634400-214640000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr1:214634400-214644400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr1:214634400-214645000	Weak transcription	HUVEC	blood vessel
15	chr1:214634400-214646200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr1:214634800-214640000	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr1:214635000-214638600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr1:214635800-214645000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr1:214636000-214638600	Strong transcription	NHLF	lung
20	chr1:214636200-214640600	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr1:214636400-214638600	Enhancers	Fetal Heart	heart
22	chr1:214636800-214638600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr1:214636800-214638600	Genic enhancers	NHEK	skin
24	chr1:214637000-214638800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr1:214637000-214639800	Weak transcription	NH-A	brain
26	chr1:214637000-214640200	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr1:214637200-214639800	Weak transcription	Fetal Muscle Leg	muscle
28	chr1:214637200-214640000	Weak transcription	NHDF-Ad	bronchial
29	chr1:214637200-214645000	Weak transcription	Esophagus	oesophagus
30	chr1:214637400-214639600	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr1:214637400-214641400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr1:214637800-214638800	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr1:214637800-214640800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr1:214638000-214638600	Enhancers	HMEC	breast
35	chr1:214638000-214639800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr1:214638000-214639800	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr1:214638200-214639000	Genic enhancers	Osteobl	bone
38	chr1:214638200-214639600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr1:214638200-214639600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr1:214638200-214639800	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr1:214638200-214639800	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr1:214638200-214639800	Weak transcription	Adipose Nuclei	Adipose
43	chr1:214638200-214639800	Weak transcription	Fetal Intestine Small	intestine
44	chr1:214638200-214639800	Weak transcription	Ovary	ovary
45	chr1:214638200-214639800	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr1:214638200-214640000	Weak transcription	Fetal Intestine Large	intestine
47	chr1:214638200-214640000	Weak transcription	Pancreas	Pancrea
48	chr1:214638200-214640200	Weak transcription	Stomach Smooth Muscle	stomach
49	chr1:214638200-214642200	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr1:214638200-214644400	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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