Variant report

Variant	rs73125706
Chromosome Location	chr1:225824860-225824861
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:225819725..225821814-chr1:225824728..225826905,2	MCF-7	breast:
2	chr1:225823843..225826743-chr1:225847981..225850951,2	K562	blood:
3	chr1:225823441..225825112-chr1:225825281..225827409,2	K562	blood:
4	chr1:225823669..225825738-chr1:225832023..225834432,2	MCF-7	breast:
5	chr1:225820712..225822349-chr1:225823741..225825901,2	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11801322	0.83[AFR][1000 genomes]
rs11808089	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28617210	0.91[AFR][1000 genomes]
rs55893672	0.90[AFR][1000 genomes]
rs57616580	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58221350	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58384340	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59481688	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60271197	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60588592	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6426081	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6666276	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6687947	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6696683	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6698989	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6702446	1.00[ASN][1000 genomes]
rs73124025	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73125705	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73125707	0.98[AFR][1000 genomes]
rs7515673	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7531033	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7555097	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832725	chr1:225726998-225910121	Weak transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv832736	chr1:225815717-225968619	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:225781000-225825400	Weak transcription	Fetal Stomach	stomach
2	chr1:225809800-225837800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr1:225810000-225825400	Weak transcription	NHEK	skin
4	chr1:225812800-225825000	Weak transcription	Fetal Muscle Trunk	muscle
5	chr1:225813600-225837600	Weak transcription	HUVEC	blood vessel
6	chr1:225813800-225838600	Weak transcription	HMEC	breast
7	chr1:225814400-225825200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr1:225814400-225825400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr1:225814600-225835800	Weak transcription	HSMMtube	muscle
10	chr1:225815600-225825400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr1:225815600-225830000	Weak transcription	Pancreas	Pancrea
12	chr1:225815800-225825400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr1:225815800-225839000	Weak transcription	Fetal Intestine Large	intestine
14	chr1:225816000-225825600	Weak transcription	Fetal Muscle Leg	muscle
15	chr1:225816000-225825800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr1:225816000-225825800	Weak transcription	HepG2	liver
17	chr1:225816000-225830000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr1:225816000-225832400	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr1:225816000-225834200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr1:225816000-225838400	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr1:225816000-225838600	Weak transcription	Fetal Kidney	kidney
22	chr1:225816200-225835400	Weak transcription	Fetal Heart	heart
23	chr1:225816200-225836000	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr1:225816200-225836600	Weak transcription	Adipose Nuclei	Adipose
25	chr1:225816800-225832000	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr1:225817000-225825400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr1:225817000-225825400	Weak transcription	Brain Germinal Matrix	brain
28	chr1:225817200-225834000	Weak transcription	Psoas Muscle	Psoas
29	chr1:225818800-225825800	Weak transcription	A549	lung
30	chr1:225819000-225831000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr1:225819000-225832200	Weak transcription	NHDF-Ad	bronchial
32	chr1:225819200-225825400	Weak transcription	Fetal Intestine Small	intestine
33	chr1:225819200-225829600	Weak transcription	Left Ventricle	heart
34	chr1:225819200-225830000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr1:225819200-225830000	Weak transcription	Gastric	stomach
36	chr1:225819600-225825600	Weak transcription	Fetal Brain Male	brain
37	chr1:225819600-225836400	Weak transcription	Brain Angular Gyrus	brain
38	chr1:225820000-225835800	Weak transcription	Brain Anterior Caudate	brain
39	chr1:225820600-225825400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr1:225820600-225826000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr1:225820600-225826600	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr1:225820800-225829800	Weak transcription	HSMM	muscle
43	chr1:225820800-225837200	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr1:225821000-225825200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr1:225822800-225828200	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr1:225823200-225825000	Genic enhancers	Osteobl	bone
47	chr1:225823400-225825200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr1:225823400-225830800	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr1:225823600-225825000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr1:225823600-225830000	Weak transcription	Right Ventricle	heart

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