Variant report

Variant	rs67991082
Chromosome Location	chr1:222729463-222729464
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	chr1:222723739..222728526-chr1:222728539..222731564,4	K562	blood:
2	chr1:222724484..222728107-chr1:222728855..222732774,4	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10495195	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17464254	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17464836	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2936032	0.82[EUR][1000 genomes]
rs3008642	0.82[EUR][1000 genomes]
rs34093838	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34853495	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs66463396	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67870673	0.87[EUR][1000 genomes]
rs72738206	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72738208	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][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	esv2762168	chr1:222717698-222736854	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	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

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:222720400-222730200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr1:222720400-222732200	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr1:222720400-222733800	Weak transcription	Fetal Kidney	kidney
4	chr1:222720600-222729600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr1:222720600-222730200	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr1:222720800-222734000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr1:222720800-222742400	Weak transcription	NHLF	lung
8	chr1:222720800-222757400	Weak transcription	HSMMtube	muscle
9	chr1:222721000-222733000	Weak transcription	NH-A	brain
10	chr1:222721200-222762200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr1:222721400-222730400	Weak transcription	HMEC	breast
12	chr1:222721400-222730800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr1:222721600-222730200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr1:222721800-222762400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr1:222722000-222729600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr1:222722000-222730600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr1:222722000-222730600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr1:222722000-222745000	Weak transcription	Hela-S3	cervix
19	chr1:222722000-222755600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr1:222722000-222755800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr1:222723600-222729600	Weak transcription	Stomach Smooth Muscle	stomach
22	chr1:222723800-222742400	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr1:222724000-222729600	Weak transcription	Fetal Intestine Large	intestine
24	chr1:222724000-222730000	Weak transcription	Primary T cells fromperipheralblood	blood
25	chr1:222724000-222733400	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr1:222724200-222729600	Weak transcription	Brain Germinal Matrix	brain
27	chr1:222724800-222750800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr1:222725200-222733600	Weak transcription	Colonic Mucosa	Colon
29	chr1:222725600-222762200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr1:222726200-222730400	Weak transcription	GM12878-XiMat	blood
31	chr1:222726200-222731000	Weak transcription	Primary neutrophils fromperipheralblood	blood
32	chr1:222726600-222730000	Weak transcription	NHDF-Ad	bronchial
33	chr1:222726600-222736800	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr1:222726800-222730400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr1:222727200-222737200	Strong transcription	Primary B cells from cord blood	blood
36	chr1:222727400-222732400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr1:222727600-222730600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr1:222727600-222737400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr1:222727600-222762600	Weak transcription	Aorta	Aorta
40	chr1:222727800-222731200	Enhancers	Liver	Liver
41	chr1:222727800-222732400	Weak transcription	Brain Angular Gyrus	brain
42	chr1:222727800-222733000	Weak transcription	Right Ventricle	heart
43	chr1:222727800-222762400	Weak transcription	Thymus	Thymus
44	chr1:222728000-222729600	Weak transcription	Brain Anterior Caudate	brain
45	chr1:222728000-222729800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr1:222728000-222732400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr1:222728000-222744400	Weak transcription	Pancreatic Islets	Pancreatic Islet
48	chr1:222728200-222730600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr1:222728200-222731000	Strong transcription	HSMM	muscle
50	chr1:222728200-222762200	Weak transcription	Small Intestine	intestine

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