Variant report

Variant	rs6426578
Chromosome Location	chr1:227357475-227357476
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	chr1:227356009..227359900-chr1:227368469..227370220,4	K562	blood:
2	chr1:227327635..227329514-chr1:227357311..227359633,2	K562	blood:

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10127638	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10495256	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10495257	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11582863	0.80[AMR][1000 genomes]
rs11583489	0.82[CEU][hapmap]
rs12118840	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs12403775	1.00[JPT][hapmap];0.85[YRI][hapmap]
rs1319103	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs13376552	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1513609	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1929855	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2718191	0.86[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs2718220	0.86[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs2718223	0.82[AFR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2813955	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2813956	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2813957	0.82[EUR][1000 genomes]
rs2813977	0.84[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs2953640	0.94[CEU][hapmap];1.00[JPT][hapmap]
rs34111989	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs3768420	0.81[CEU][hapmap]
rs3768437	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4146588	1.00[CEU][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs4653822	1.00[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap]
rs6426584	1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs6426596	0.86[AFR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs66796195	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72748174	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72748192	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72748195	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72750169	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72750202	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72753628	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72755321	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7355000	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7531992	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7540155	1.00[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap]
rs7540391	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7540618	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7553837	0.85[CEU][hapmap]
rs7553990	0.80[AMR][1000 genomes]
rs938257	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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	nsv832792	chr1:227211378-227364992	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv873239	chr1:227222125-227361072	Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv873240	chr1:227228946-227361072	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv873241	chr1:227242247-227361072	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv549270	chr1:227290139-227361072	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	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
9	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

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:227287400-227360800	Weak transcription	Psoas Muscle	Psoas
2	chr1:227288400-227398000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr1:227300000-227379800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr1:227317000-227374200	Weak transcription	HepG2	liver
5	chr1:227329600-227358400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr1:227329600-227380000	Weak transcription	Aorta	Aorta
7	chr1:227331600-227358400	Weak transcription	Brain Cingulate Gyrus	brain
8	chr1:227333400-227358400	Weak transcription	Osteobl	bone
9	chr1:227333400-227359000	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr1:227333400-227381000	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr1:227333400-227405600	Weak transcription	Adipose Nuclei	Adipose
12	chr1:227334800-227371800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr1:227343200-227400400	Weak transcription	A549	lung
14	chr1:227343600-227358400	Weak transcription	Colon Smooth Muscle	Colon
15	chr1:227346800-227357800	Weak transcription	NHDF-Ad	bronchial
16	chr1:227346800-227358000	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr1:227346800-227358200	Weak transcription	Right Ventricle	heart
18	chr1:227346800-227358400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr1:227346800-227366600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr1:227346800-227379800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr1:227346800-227403800	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr1:227346800-227405800	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr1:227346800-227406800	Weak transcription	Fetal Kidney	kidney
24	chr1:227347200-227378000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr1:227347800-227363600	Weak transcription	Fetal Stomach	stomach
26	chr1:227347800-227385800	Weak transcription	Fetal Intestine Small	intestine
27	chr1:227347800-227390400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr1:227348000-227358200	Weak transcription	Brain Hippocampus Middle	brain
29	chr1:227348000-227358400	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr1:227348000-227361000	Weak transcription	NHEK	skin
31	chr1:227348200-227357800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr1:227348200-227358000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr1:227348200-227358000	Weak transcription	HSMM	muscle
34	chr1:227348200-227358200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr1:227348200-227358200	Weak transcription	Brain Angular Gyrus	brain
36	chr1:227348200-227361000	Weak transcription	HSMMtube	muscle
37	chr1:227348200-227367600	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr1:227348200-227370200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr1:227348200-227370400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr1:227348200-227371400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr1:227348200-227376400	Weak transcription	Fetal Lung	lung
42	chr1:227348200-227377800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr1:227348200-227377800	Weak transcription	HUVEC	blood vessel
44	chr1:227348200-227379800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr1:227348200-227398000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr1:227348200-227398400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr1:227348200-227401600	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr1:227348200-227408400	Weak transcription	Fetal Muscle Trunk	muscle
49	chr1:227348200-227412200	Weak transcription	Fetal Muscle Leg	muscle
50	chr1:227348400-227378000	Weak transcription	Liver	Liver

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