Variant report

Variant	rs55977521
Chromosome Location	chr1:224378232-224378233
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:224376961..224379372-chr1:224517838..224520632,2	K562	blood:

Variant related genes	Relation type
ENSG00000143748	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10495222	0.82[ASN][1000 genomes]
rs1060386	0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs10799529	0.85[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs10916468	0.93[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11588603	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11588981	0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12024159	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12142842	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12143450	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12143576	0.95[ASN][1000 genomes]
rs2405302	0.84[ASN][1000 genomes]
rs4290029	0.86[ASN][1000 genomes]
rs4446934	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4653997	0.83[ASN][1000 genomes]
rs56023673	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6426060	0.91[ASN][1000 genomes]
rs6668744	0.82[ASN][1000 genomes]
rs6674695	0.88[ASN][1000 genomes]
rs6682662	0.88[ASN][1000 genomes]
rs72753995	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72755906	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72755909	0.94[ASN][1000 genomes]
rs72755914	0.88[ASN][1000 genomes]
rs72755915	0.91[ASN][1000 genomes]
rs72755917	0.85[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs7541131	0.82[ASN][1000 genomes]
rs908802	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs908803	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs908804	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832692	chr1:224206536-224407717	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv8857	chr1:224359943-224383023	Strong transcription Flanking Active TSS Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv873223	chr1:224367232-224467117	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 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	chr1:224372400-224379600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr1:224372400-224380200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr1:224372400-224381000	Weak transcription	HSMMtube	muscle
4	chr1:224372400-224389200	Weak transcription	Fetal Kidney	kidney
5	chr1:224372600-224379000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr1:224372600-224379600	Weak transcription	HMEC	breast
7	chr1:224372600-224380000	Weak transcription	Thymus	Thymus
8	chr1:224372600-224391000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr1:224372600-224392400	Weak transcription	Ovary	ovary
10	chr1:224372600-224392600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr1:224372800-224380000	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr1:224372800-224380000	Weak transcription	HSMM	muscle
13	chr1:224372800-224381000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr1:224372800-224392000	Weak transcription	Colon Smooth Muscle	Colon
15	chr1:224373000-224383600	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr1:224373200-224380200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr1:224373200-224380200	Weak transcription	HUVEC	blood vessel
18	chr1:224373200-224380400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr1:224373200-224382000	Weak transcription	Brain Substantia Nigra	brain
20	chr1:224373200-224392400	Weak transcription	Colonic Mucosa	Colon
21	chr1:224373400-224379600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr1:224373400-224379600	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr1:224373400-224381200	Weak transcription	Aorta	Aorta
24	chr1:224373400-224383600	Weak transcription	Small Intestine	intestine
25	chr1:224373400-224384400	Weak transcription	Brain Germinal Matrix	brain
26	chr1:224373400-224392400	Weak transcription	Brain Cingulate Gyrus	brain
27	chr1:224373400-224392400	Weak transcription	Rectal Smooth Muscle	rectum
28	chr1:224373400-224392600	Weak transcription	Psoas Muscle	Psoas
29	chr1:224373600-224379200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr1:224373600-224380000	Weak transcription	Brain Anterior Caudate	brain
31	chr1:224373600-224380000	Weak transcription	NHLF	lung
32	chr1:224373600-224381000	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr1:224373600-224381000	Weak transcription	NHDF-Ad	bronchial
34	chr1:224373600-224392400	Weak transcription	Brain Angular Gyrus	brain
35	chr1:224373800-224380000	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr1:224373800-224380000	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr1:224373800-224381000	Weak transcription	Brain Hippocampus Middle	brain
38	chr1:224373800-224384200	Weak transcription	Fetal Brain Male	brain
39	chr1:224373800-224392400	Weak transcription	Esophagus	oesophagus
40	chr1:224373800-224392400	Weak transcription	Fetal Heart	heart
41	chr1:224373800-224392400	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr1:224374000-224380000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr1:224374000-224380600	Weak transcription	Lung	lung
44	chr1:224374000-224384800	Weak transcription	Stomach Mucosa	stomach
45	chr1:224374000-224391000	Weak transcription	Spleen	Spleen
46	chr1:224374000-224392400	Weak transcription	Pancreas	Pancrea
47	chr1:224374200-224379800	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr1:224374200-224380000	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr1:224374200-224380000	Weak transcription	Fetal Lung	lung
50	chr1:224374200-224380200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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