Variant report

Variant	rs1603742
Chromosome Location	chr1:222744681-222744682
allele	C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11485178	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11485180	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11487813	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1319392	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17163214	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1909192	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1995152	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2133185	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2173401	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2378583	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2936027	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2936031	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2936034	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2936035	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2936037	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2936038	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2936040	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2936048	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3002151	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3008641	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3008644	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3008650	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4400619	0.96[EUR][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	nsv873203	chr1:222332906-222775000	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv999185	chr1:222500725-223278032	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv535304	chr1:222500725-223278032	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	nsv873205	chr1:222718718-222923351	Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	esv1842070	chr1:222732027-222763235	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:222720800-222757400	Weak transcription	HSMMtube	muscle
2	chr1:222721200-222762200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr1:222721800-222762400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr1:222722000-222745000	Weak transcription	Hela-S3	cervix
5	chr1:222722000-222755600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr1:222722000-222755800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr1:222724800-222750800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr1:222725600-222762200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr1:222727600-222762600	Weak transcription	Aorta	Aorta
10	chr1:222727800-222762400	Weak transcription	Thymus	Thymus
11	chr1:222728200-222762200	Weak transcription	Small Intestine	intestine
12	chr1:222728800-222746400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr1:222729600-222762400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr1:222729800-222758800	Weak transcription	Pancreas	Pancrea
15	chr1:222730800-222760200	Weak transcription	Brain Substantia Nigra	brain
16	chr1:222730800-222761200	Weak transcription	Fetal Brain Male	brain
17	chr1:222731200-222762400	Weak transcription	Spleen	Spleen
18	chr1:222731600-222745200	Weak transcription	Fetal Intestine Small	intestine
19	chr1:222731600-222748600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr1:222731600-222756200	Weak transcription	Esophagus	oesophagus
21	chr1:222731600-222758800	Weak transcription	Gastric	stomach
22	chr1:222731600-222762200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr1:222733200-222745000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr1:222733600-222762400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr1:222733800-222761800	Weak transcription	Brain Angular Gyrus	brain
26	chr1:222733800-222762200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr1:222734000-222762400	Weak transcription	Right Ventricle	heart
28	chr1:222734200-222762400	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr1:222734800-222750200	Weak transcription	HUVEC	blood vessel
30	chr1:222734800-222762200	Weak transcription	Colonic Mucosa	Colon
31	chr1:222738200-222753400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr1:222738400-222745400	Strong transcription	Primary B cells from cord blood	blood
33	chr1:222738400-222747600	Strong transcription	Primary hematopoietic stem cells	blood
34	chr1:222739000-222761600	Strong transcription	HUES64 Cell Line	embryonic stem cell
35	chr1:222739200-222753200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
36	chr1:222739400-222746200	Strong transcription	Primary monocytes fromperipheralblood	blood
37	chr1:222739400-222748600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr1:222739600-222744800	Strong transcription	HUES48 Cell Line	embryonic stem cell
39	chr1:222739600-222745000	Strong transcription	Rectal Mucosa Donor 29	rectum
40	chr1:222739600-222751000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
41	chr1:222739800-222744800	Strong transcription	Primary B cells from peripheral blood	blood
42	chr1:222739800-222746000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
43	chr1:222740000-222745400	Strong transcription	K562	blood
44	chr1:222740000-222746000	Strong transcription	HUES6 Cell Line	embryonic stem cell
45	chr1:222740000-222752600	Strong transcription	Dnd41	blood
46	chr1:222740200-222747200	Strong transcription	Primary T helper cells PMA-I stimulated	--
47	chr1:222740800-222746000	Strong transcription	HSMM	muscle
48	chr1:222741200-222744800	Strong transcription	Placenta	Placenta
49	chr1:222741200-222746000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr1:222741200-222753200	Strong transcription	Monocytes-CD14+_RO01746	blood

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