Variant report

Variant	rs11164673
Chromosome Location	chr1:103575991-103575992
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 106 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:102)

rs_ID	r²[population]
rs10437029	0.84[ASN][1000 genomes]
rs10874680	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10874681	0.89[ASN][1000 genomes]
rs10874682	0.89[ASN][1000 genomes]
rs10874683	0.89[ASN][1000 genomes]
rs10874684	0.89[ASN][1000 genomes]
rs10874685	0.89[ASN][1000 genomes]
rs10874686	0.84[ASN][1000 genomes]
rs10874687	0.89[ASN][1000 genomes]
rs10874688	0.89[ASN][1000 genomes]
rs11164669	0.87[YRI][hapmap]
rs11164676	0.89[ASN][1000 genomes]
rs11164679	0.89[ASN][1000 genomes]
rs11164683	0.89[ASN][1000 genomes]
rs11164684	0.89[ASN][1000 genomes]
rs11164690	0.89[ASN][1000 genomes]
rs11164694	0.86[ASN][1000 genomes]
rs11164706	0.84[ASN][1000 genomes]
rs11802357	0.89[ASN][1000 genomes]
rs12026245	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12077815	0.89[ASN][1000 genomes]
rs12090752	0.84[ASN][1000 genomes]
rs12094089	0.84[ASN][1000 genomes]
rs12125839	0.89[ASN][1000 genomes]
rs12126095	0.84[ASN][1000 genomes]
rs12126147	0.89[ASN][1000 genomes]
rs12131628	0.86[ASN][1000 genomes]
rs12134283	0.89[ASN][1000 genomes]
rs12134285	0.89[ASN][1000 genomes]
rs12139369	0.89[ASN][1000 genomes]
rs12139417	0.89[ASN][1000 genomes]
rs12140409	0.84[ASN][1000 genomes]
rs12142507	0.86[ASN][1000 genomes]
rs12142969	0.84[ASN][1000 genomes]
rs12143615	0.89[ASN][1000 genomes]
rs1337171	0.89[ASN][1000 genomes]
rs1337172	0.89[ASN][1000 genomes]
rs1337173	0.89[ASN][1000 genomes]
rs1337198	0.86[ASN][1000 genomes]
rs1337199	0.86[ASN][1000 genomes]
rs13375484	0.89[ASN][1000 genomes]
rs1415365	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1538039	0.89[ASN][1000 genomes]
rs1572516	0.89[ASN][1000 genomes]
rs1572517	0.89[ASN][1000 genomes]
rs1572519	0.89[ASN][1000 genomes]
rs1572520	0.89[ASN][1000 genomes]
rs1577806	0.86[ASN][1000 genomes]
rs1591635	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17127531	0.86[ASN][1000 genomes]
rs2376281	0.88[YRI][hapmap]
rs2889340	0.89[ASN][1000 genomes]
rs3850460	0.86[ASN][1000 genomes]
rs3850461	0.86[ASN][1000 genomes]
rs3850462	0.86[ASN][1000 genomes]
rs3861744	0.86[ASN][1000 genomes]
rs4098281	0.89[ASN][1000 genomes]
rs4332376	0.89[ASN][1000 genomes]
rs4908291	0.88[YRI][hapmap];0.83[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs55926955	0.89[ASN][1000 genomes]
rs56350510	0.89[ASN][1000 genomes]
rs57003205	0.89[ASN][1000 genomes]
rs59026756	0.89[ASN][1000 genomes]
rs61814977	0.89[ASN][1000 genomes]
rs61814982	0.89[ASN][1000 genomes]
rs61814997	0.86[ASN][1000 genomes]
rs61814998	0.89[ASN][1000 genomes]
rs61814999	0.89[ASN][1000 genomes]
rs61815034	0.84[ASN][1000 genomes]
rs61815035	0.84[ASN][1000 genomes]
rs61815037	0.84[ASN][1000 genomes]
rs61815038	0.84[ASN][1000 genomes]
rs6577356	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6577358	0.89[ASN][1000 genomes]
rs6577361	0.86[ASN][1000 genomes]
rs6577362	0.84[ASN][1000 genomes]
rs6658609	0.89[ASN][1000 genomes]
rs6658707	0.89[ASN][1000 genomes]
rs6660886	0.84[ASN][1000 genomes]
rs6670472	0.84[ASN][1000 genomes]
rs6670951	0.84[ASN][1000 genomes]
rs6673525	0.89[ASN][1000 genomes]
rs6675440	0.86[ASN][1000 genomes]
rs6678780	0.84[ASN][1000 genomes]
rs6681533	0.89[ASN][1000 genomes]
rs6692914	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6703986	0.84[ASN][1000 genomes]
rs7411801	0.89[ASN][1000 genomes]
rs7515978	0.86[ASN][1000 genomes]
rs7518542	0.86[ASN][1000 genomes]
rs7519151	0.86[ASN][1000 genomes]
rs7523058	0.86[ASN][1000 genomes]
rs7524445	0.84[ASN][1000 genomes]
rs7530263	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7534313	0.89[ASN][1000 genomes]
rs7534696	0.82[ASN][1000 genomes]
rs7544745	0.89[ASN][1000 genomes]
rs7550030	0.82[ASN][1000 genomes]
rs7555795	0.84[ASN][1000 genomes]
rs872317	0.86[ASN][1000 genomes]
rs9663072	0.89[ASN][1000 genomes]
rs9970114	0.87[YRI][hapmap]

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	nsv522922	chr1:103305021-103764640	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv830893	chr1:103458498-103635579	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv931600	chr1:103548397-104161031	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv498007	chr1:103573857-104107589	Genic enhancers Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:103573600-103576200	Weak transcription	HMEC	breast
2	chr1:103574600-103576400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr1:103574600-103577600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr1:103574600-103577800	Weak transcription	HSMMtube	muscle
5	chr1:103574600-103578400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr1:103574800-103576800	Enhancers	Muscle Satellite Cultured Cells	--
7	chr1:103575000-103576400	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr1:103575000-103576400	Enhancers	H1 Cell Line	embryonic stem cell
9	chr1:103575000-103576400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr1:103575000-103576800	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr1:103575200-103576200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr1:103575200-103576400	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr1:103575200-103576400	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr1:103575200-103576800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr1:103575200-103577600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr1:103575200-103577600	Weak transcription	NHEK	skin
17	chr1:103575200-103577600	Weak transcription	Osteobl	bone
18	chr1:103575200-103577800	Weak transcription	A549	lung
19	chr1:103575200-103578200	Enhancers	Hela-S3	cervix
20	chr1:103575200-103578400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr1:103575200-103578600	Enhancers	HSMM	muscle
22	chr1:103575200-103579600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr1:103575400-103576000	Enhancers	Brain Germinal Matrix	brain
24	chr1:103575400-103576200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr1:103575400-103576200	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr1:103575400-103576600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr1:103575400-103576600	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr1:103575400-103576600	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr1:103575400-103576800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr1:103575400-103577600	Weak transcription	NH-A	brain
31	chr1:103575600-103576000	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr1:103575600-103576200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr1:103575600-103576600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr1:103575600-103576800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr1:103575800-103578600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr1:103575800-103578600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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