Variant report

Variant	rs1336480
Chromosome Location	chr1:225720734-225720735
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	chr1:225718758..225721706-chr1:225723433..225725364,3	K562	blood:
2	chr1:225716258..225718106-chr1:225719282..225721032,2	MCF-7	breast:

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10799310	0.81[EUR][1000 genomes]
rs12071529	0.84[EUR][1000 genomes]
rs1222434	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AFR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1222439	0.95[EUR][1000 genomes]
rs1360958	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1629896	0.88[TSI][hapmap]
rs1764345	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1764347	1.00[ASW][hapmap];0.90[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[TSI][hapmap];0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1771318	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1890999	0.85[EUR][1000 genomes]
rs2035916	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3904084	0.90[CEU][hapmap];0.89[JPT][hapmap];0.85[AMR][1000 genomes]
rs4233220	0.81[EUR][1000 genomes]
rs475794	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs481746	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs499385	0.89[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.88[JPT][hapmap];1.00[TSI][hapmap];0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs516323	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs525062	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs526221	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs544404	1.00[ASW][hapmap];0.90[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs544430	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs566085	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59363938	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6426075	0.89[TSI][hapmap]
rs6692054	0.81[EUR][1000 genomes]
rs72750896	0.88[EUR][1000 genomes]
rs7545317	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs954534	1.00[ASW][hapmap];0.90[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];1.00[TSI][hapmap];0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9651009	0.82[AMR][1000 genomes];0.85[EUR][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	nsv832714	chr1:225592333-225805396	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers 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	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:225689200-225721000	Weak transcription	Duodenum Mucosa	Duodenum
2	chr1:225695600-225721200	Weak transcription	Fetal Kidney	kidney
3	chr1:225697400-225722600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr1:225698600-225721000	Weak transcription	Small Intestine	intestine
5	chr1:225700000-225726400	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr1:225700000-225726400	Weak transcription	HMEC	breast
7	chr1:225701400-225727200	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr1:225701400-225744400	Weak transcription	HUVEC	blood vessel
9	chr1:225701400-225747000	Weak transcription	Hela-S3	cervix
10	chr1:225704200-225721000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr1:225705600-225747400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr1:225705800-225726600	Weak transcription	NHEK	skin
13	chr1:225707200-225726600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr1:225707200-225755000	Weak transcription	Gastric	stomach
15	chr1:225707400-225726600	Weak transcription	Brain Angular Gyrus	brain
16	chr1:225709000-225721000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr1:225711400-225726600	Weak transcription	Fetal Brain Female	brain
18	chr1:225711600-225721200	Weak transcription	Brain Hippocampus Middle	brain
19	chr1:225712400-225729600	Weak transcription	Right Ventricle	heart
20	chr1:225713800-225721000	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr1:225714800-225729600	Weak transcription	Ovary	ovary
22	chr1:225715000-225721000	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr1:225715600-225720800	Weak transcription	Fetal Brain Male	brain
24	chr1:225715600-225721000	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr1:225716200-225720800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr1:225716200-225720800	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr1:225716600-225721000	Weak transcription	Colon Smooth Muscle	Colon
28	chr1:225716800-225726400	Weak transcription	Left Ventricle	heart
29	chr1:225716800-225726400	Weak transcription	Psoas Muscle	Psoas
30	chr1:225717600-225726600	Weak transcription	NHDF-Ad	bronchial
31	chr1:225717600-225732000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr1:225717600-225744400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr1:225717800-225720800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr1:225717800-225720800	Weak transcription	Fetal Muscle Leg	muscle
35	chr1:225717800-225722400	Weak transcription	Stomach Smooth Muscle	stomach
36	chr1:225717800-225722800	Weak transcription	NH-A	brain
37	chr1:225717800-225725800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr1:225717800-225729600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr1:225717800-225744400	Weak transcription	Fetal Muscle Trunk	muscle
40	chr1:225717800-225745000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr1:225717800-225747400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr1:225717800-225747400	Weak transcription	Fetal Stomach	stomach
43	chr1:225717800-225758200	Weak transcription	HepG2	liver
44	chr1:225718200-225727000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr1:225718400-225720800	Weak transcription	Brain Germinal Matrix	brain
46	chr1:225718400-225726800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr1:225718400-225732600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr1:225718400-225756400	Weak transcription	NHLF	lung
49	chr1:225718800-225726600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr1:225719000-225722400	Weak transcription	Osteobl	bone

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