Variant report

Variant	rs10429872
Chromosome Location	chr1:227407281-227407282
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:227405924..227407789-chr1:227409135..227411231,2	K562	blood:
2	chr1:227402647..227405396-chr1:227406531..227409406,3	K562	blood:

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10495255	0.81[EUR][1000 genomes]
rs10753433	0.81[EUR][1000 genomes]
rs10799397	0.80[EUR][1000 genomes]
rs10799409	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10799410	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10916106	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10916108	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10916111	0.82[EUR][1000 genomes]
rs10916118	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12035986	0.82[AFR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12044287	0.83[AFR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12065126	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12137591	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12565871	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12566059	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12569227	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12742066	0.85[EUR][1000 genomes]
rs1913344	0.83[AFR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2102638	0.91[ASN][1000 genomes]
rs34084723	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34875093	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35738984	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3795457	0.81[EUR][1000 genomes]
rs4339829	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4653797	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4653812	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60197034	0.81[EUR][1000 genomes]
rs6656653	0.81[EUR][1000 genomes]
rs6685106	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6692294	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6697272	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6700730	0.81[EUR][1000 genomes]
rs72759337	0.81[EUR][1000 genomes]
rs7516326	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7519752	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7537038	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs955704	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003656	chr1:227034700-227559665	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv535318	chr1:227034700-227559665	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	esv2830098	chr1:227295716-227422234	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv534002	chr1:227315186-228047108	Bivalent/Poised TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
5	nsv873242	chr1:227371906-227579344	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:227348200-227408400	Weak transcription	Fetal Muscle Trunk	muscle
2	chr1:227348200-227412200	Weak transcription	Fetal Muscle Leg	muscle
3	chr1:227370000-227413600	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr1:227375600-227410800	Weak transcription	HepG2	liver
5	chr1:227376600-227412600	Weak transcription	Fetal Lung	lung
6	chr1:227380200-227421800	Weak transcription	Ovary	ovary
7	chr1:227382000-227414000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr1:227383600-227421800	Weak transcription	Stomach Smooth Muscle	stomach
9	chr1:227386200-227433400	Weak transcription	Fetal Stomach	stomach
10	chr1:227386400-227413800	Weak transcription	Brain Anterior Caudate	brain
11	chr1:227387000-227413600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr1:227387400-227414000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr1:227390600-227413600	Weak transcription	Small Intestine	intestine
14	chr1:227396800-227413600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr1:227398200-227413600	Weak transcription	NHLF	lung
16	chr1:227398800-227411200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr1:227398800-227413800	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr1:227399000-227408800	Weak transcription	Liver	Liver
19	chr1:227399400-227411200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr1:227399400-227415400	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr1:227399600-227413200	Weak transcription	HSMM	muscle
22	chr1:227399800-227411000	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr1:227400400-227407600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr1:227400400-227408200	Weak transcription	K562	blood
25	chr1:227400400-227410800	Weak transcription	Brain Angular Gyrus	brain
26	chr1:227400400-227410800	Weak transcription	Brain Substantia Nigra	brain
27	chr1:227400400-227413000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr1:227400400-227413000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr1:227400400-227426800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr1:227400600-227413000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr1:227400600-227413000	Weak transcription	NHEK	skin
32	chr1:227400800-227412800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr1:227401600-227413400	Weak transcription	A549	lung
34	chr1:227402400-227410800	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr1:227402400-227430600	Weak transcription	Pancreas	Pancrea
36	chr1:227403800-227412800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr1:227404000-227413800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr1:227404400-227412800	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr1:227405600-227407600	Enhancers	Stomach Mucosa	stomach
40	chr1:227405600-227408200	Weak transcription	Psoas Muscle	Psoas
41	chr1:227405600-227421800	Weak transcription	Gastric	stomach
42	chr1:227406400-227417200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr1:227406600-227407800	Enhancers	Fetal Intestine Large	intestine
44	chr1:227406600-227408000	Enhancers	Primary hematopoietic stem cells	blood
45	chr1:227406600-227409200	Enhancers	HUVEC	blood vessel
46	chr1:227406800-227407400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr1:227406800-227407400	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
48	chr1:227406800-227407400	Active TSS	Rectal Mucosa Donor 29	rectum
49	chr1:227406800-227407600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr1:227406800-227407600	Enhancers	Fetal Kidney	kidney

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