Variant report

Variant	rs74148127
Chromosome Location	chr1:222726355-222726356
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:222726268-222726474	GM12878	blood:	n/a	n/a
2	CTCF	chr1:222726280-222726430	NHDF-neo	bronchial:	n/a	n/a
3	CTCF	chr1:222726280-222726430	AG10803	skin:	n/a	n/a
4	POLR2A	chr1:222726263-222726767	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr1:222726346-222726461	K562	blood:	n/a	n/a
6	POLR2A	chr1:222726350-222726916	SK-N-MC	brain:	n/a	n/a
7	POLR2A	chr1:222725859-222730308	K562	blood:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:222724484..222728107-chr1:222728855..222732774,4	K562	blood:
2	chr1:222719834..222721490-chr1:222725379..222727682,2	K562	blood:
3	chr1:222725040..222727583-chr1:222792195..222794403,2	K562	blood:
4	chr1:222723739..222728526-chr1:222728539..222731564,4	K562	blood:

No data

Variant related genes	Relation type
HHIPL2	TF binding region
ENSG00000143512	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10495193	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs10495196	0.86[AFR][1000 genomes];0.80[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs17163219	0.87[AFR][1000 genomes]
rs17163249	0.87[AFR][1000 genomes];0.80[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs17163290	0.82[AFR][1000 genomes]
rs74148135	0.88[AFR][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:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:222720400-222728800	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr1:222720400-222729200	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr1:222720400-222729200	Weak transcription	Fetal Lung	lung
4	chr1:222720400-222730200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr1:222720400-222732200	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr1:222720400-222733800	Weak transcription	Fetal Kidney	kidney
7	chr1:222720600-222729600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr1:222720600-222730200	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr1:222720800-222728600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr1:222720800-222729400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr1:222720800-222734000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr1:222720800-222742400	Weak transcription	NHLF	lung
13	chr1:222720800-222757400	Weak transcription	HSMMtube	muscle
14	chr1:222721000-222729400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr1:222721000-222733000	Weak transcription	NH-A	brain
16	chr1:222721200-222729200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr1:222721200-222729400	Weak transcription	NHEK	skin
18	chr1:222721200-222762200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr1:222721400-222728800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr1:222721400-222729200	Weak transcription	Placenta	Placenta
21	chr1:222721400-222730400	Weak transcription	HMEC	breast
22	chr1:222721400-222730800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr1:222721600-222729000	Weak transcription	K562	blood
24	chr1:222721600-222729200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr1:222721600-222729400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr1:222721600-222729400	Weak transcription	Gastric	stomach
27	chr1:222721600-222729400	Weak transcription	Osteobl	bone
28	chr1:222721600-222730200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr1:222721800-222728200	Weak transcription	HSMM	muscle
30	chr1:222721800-222729400	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr1:222721800-222762400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr1:222722000-222727600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr1:222722000-222728800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr1:222722000-222729000	Weak transcription	A549	lung
35	chr1:222722000-222729600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr1:222722000-222730600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr1:222722000-222730600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr1:222722000-222745000	Weak transcription	Hela-S3	cervix
39	chr1:222722000-222755600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr1:222722000-222755800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr1:222722200-222728800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr1:222722200-222729400	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr1:222722400-222729200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr1:222722800-222728600	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr1:222722800-222728800	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr1:222722800-222729200	Weak transcription	Brain Hippocampus Middle	brain
47	chr1:222723200-222728800	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr1:222723400-222726400	Weak transcription	Fetal Brain Female	brain
49	chr1:222723600-222728800	Weak transcription	Primary T cells from cord blood	blood
50	chr1:222723600-222729000	Weak transcription	Dnd41	blood

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