Variant report

Variant	rs57849068
Chromosome Location	chr1:247331994-247331995
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:247329640..247332226-chr1:247336711..247339564,2	K562	blood:
2	chr1:247324217..247327180-chr1:247330405..247333669,3	K562	blood:
3	chr1:247291347..247292905-chr1:247330458..247332447,2	K562	blood:
4	chr1:247291341..247292905-chr1:247330458..247334056,3	K562	blood:

Variant related genes	Relation type
ENSG00000224014	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12063915	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12066857	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57757442	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61404836	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73137954	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73137980	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73137984	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73138000	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv873424	chr1:246991094-247366380	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv1005208	chr1:247037441-247597975	Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
3	nsv535417	chr1:247094131-247409000	ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	47 gene(s)	inside rSNPs	diseases
4	nsv1005639	chr1:247094161-247401380	ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	47 gene(s)	inside rSNPs	diseases
5	nsv535418	chr1:247094161-247401380	Active TSS ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	47 gene(s)	inside rSNPs	diseases
6	nsv916236	chr1:247124353-247409065	Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
7	nsv948419	chr1:247130577-247400404	ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
8	nsv1012616	chr1:247173851-247365588	Active TSS Strong transcription ZNF genes & repeats Genic enhancers Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases
9	nsv535420	chr1:247173851-247365588	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases
10	nsv1002438	chr1:247173851-247401380	ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	30 gene(s)	inside rSNPs	diseases
11	nsv997687	chr1:247180668-247348847	Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
12	nsv535422	chr1:247180668-247348847	ZNF genes & repeats Genic enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
13	nsv427974	chr1:247184802-247352964	ZNF genes & repeats Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
14	esv3336179	chr1:247195262-247373269	Enhancers ZNF genes & repeats Strong transcription Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases
15	nsv873428	chr1:247226986-247346189	Bivalent Enhancer Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
16	nsv833126	chr1:247273084-247476150	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	n/a
17	nsv873432	chr1:247278707-247334323	Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	n/a
18	nsv873433	chr1:247278707-247360368	ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	n/a
19	nsv1005008	chr1:247285853-247339833	ZNF genes & repeats Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	n/a
20	nsv535423	chr1:247285853-247339833	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	n/a
21	nsv873434	chr1:247319489-247360368	Strong transcription ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:247301800-247333000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr1:247302000-247334200	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr1:247320800-247332800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr1:247323200-247334000	Weak transcription	Right Ventricle	heart
5	chr1:247323600-247332000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr1:247323600-247332400	Weak transcription	Thymus	Thymus
7	chr1:247323600-247332600	Weak transcription	Pancreas	Pancrea
8	chr1:247323800-247332000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr1:247326600-247332000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr1:247327400-247334200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
11	chr1:247327800-247336800	Weak transcription	HSMM	muscle
12	chr1:247328400-247332600	Weak transcription	Hela-S3	cervix
13	chr1:247328600-247332400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr1:247328600-247333400	Weak transcription	Psoas Muscle	Psoas
15	chr1:247328800-247333000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr1:247328800-247333000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
17	chr1:247329200-247332600	ZNF genes & repeats	Primary B cells from cord blood	blood
18	chr1:247329400-247332000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr1:247329600-247332000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr1:247329600-247332400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr1:247329600-247332600	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr1:247329600-247332600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr1:247329600-247335600	Weak transcription	Fetal Thymus	thymus
24	chr1:247329800-247332400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr1:247329800-247332600	Weak transcription	Brain Anterior Caudate	brain
26	chr1:247330600-247332600	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr1:247330600-247333000	Weak transcription	Fetal Kidney	kidney
28	chr1:247330600-247333400	Weak transcription	NHEK	skin
29	chr1:247330600-247334000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr1:247330800-247332400	Weak transcription	K562	blood
31	chr1:247330800-247332600	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr1:247330800-247333800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr1:247330800-247334000	Weak transcription	HUVEC	blood vessel
34	chr1:247330800-247334800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr1:247330800-247335600	Weak transcription	Primary T helper cells PMA-I stimulated	--
36	chr1:247330800-247336000	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr1:247331000-247332000	Weak transcription	A549	lung
38	chr1:247331000-247332400	Weak transcription	Primary T helper cells fromperipheralblood	blood
39	chr1:247331000-247332600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr1:247331000-247333600	Weak transcription	Monocytes-CD14+_RO01746	blood
41	chr1:247331000-247335600	Weak transcription	Primary T cells from cord blood	blood
42	chr1:247331200-247333000	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
43	chr1:247331400-247333600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr1:247331400-247336200	Weak transcription	Duodenum Mucosa	Duodenum
45	chr1:247331600-247332200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
46	chr1:247331600-247332600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr1:247331600-247332600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr1:247331600-247332800	Strong transcription	HUES64 Cell Line	embryonic stem cell
49	chr1:247331600-247332800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr1:247331800-247332000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood

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