Variant report

Variant	rs57338227
Chromosome Location	chr1:214824393-214824394
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:214824204-214824555	K562	blood:	n/a	n/a
2	POLR2A	chr1:214824163-214824614	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr1:214823350-214824688	K562	blood:	n/a	n/a
4	POLR2A	chr1:214823428-214824820	A549	lung:	n/a	n/a
5	POLR2A	chr1:214824223-214824686	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr1:214823708-214824891	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr1:214824040-214824939	K562	blood:	n/a	n/a
8	POLR2A	chr1:214824174-214824733	PFSK-1	brain:	n/a	n/a
9	POLR2A	chr1:214812256-214825434	K562	blood:	n/a	n/a
10	POLR2A	chr1:214824184-214824603	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr1:214823354-214824894	K562	blood:	n/a	n/a
12	POLR2A	chr1:214824102-214824825	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:214819649..214821751-chr1:214822324..214824607,2	K562	blood:

Variant related genes	Relation type
CENPF	TF binding region

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10494983	0.81[ASN][1000 genomes]
rs10494984	0.81[ASN][1000 genomes]
rs11120372	0.81[ASN][1000 genomes]
rs11801893	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11805402	0.81[ASN][1000 genomes]
rs12058704	0.81[ASN][1000 genomes]
rs17023380	0.81[ASN][1000 genomes]
rs17023384	0.81[ASN][1000 genomes]
rs2070065	0.92[ASN][1000 genomes]
rs2666839	0.92[ASN][1000 genomes]
rs3748691	0.82[AMR][1000 genomes]
rs3748693	0.87[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs3748695	0.81[ASN][1000 genomes]
rs3748696	0.81[ASN][1000 genomes]
rs3748698	0.81[ASN][1000 genomes]
rs3790648	0.81[ASN][1000 genomes]
rs3790649	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1004475	chr1:214763778-215013375	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv1005669	chr1:214774522-214994142	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv997864	chr1:214778658-214994142	Enhancers Genic enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1002937	chr1:214793813-214994142	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
5	nsv1013284	chr1:214799847-214951184	Genic enhancers Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
6	nsv873165	chr1:214802299-214889859	Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:214777600-214838600	Weak transcription	Esophagus	oesophagus
2	chr1:214777800-214838400	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr1:214778000-214839200	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr1:214783400-214838800	Weak transcription	Fetal Kidney	kidney
5	chr1:214784600-214834000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr1:214785600-214843800	Strong transcription	Fetal Thymus	thymus
7	chr1:214786200-214843000	Strong transcription	HUES64 Cell Line	embryonic stem cell
8	chr1:214786600-214833800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr1:214786600-214843200	Strong transcription	HUES6 Cell Line	embryonic stem cell
10	chr1:214786800-214843800	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr1:214787600-214842200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
12	chr1:214789000-214837400	Weak transcription	Small Intestine	intestine
13	chr1:214794400-214833200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr1:214795200-214838600	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr1:214801000-214839600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr1:214801000-214843000	Strong transcription	HUES48 Cell Line	embryonic stem cell
17	chr1:214801200-214846000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
18	chr1:214801800-214841400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr1:214801800-214842600	Strong transcription	A549	lung
20	chr1:214801800-214844800	Strong transcription	H1 Cell Line	embryonic stem cell
21	chr1:214802000-214842000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr1:214802400-214841600	Strong transcription	Primary monocytes fromperipheralblood	blood
23	chr1:214804000-214858200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr1:214804200-214839400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr1:214805800-214845800	Strong transcription	Dnd41	blood
26	chr1:214806000-214840200	Weak transcription	Fetal Intestine Small	intestine
27	chr1:214810400-214847400	Weak transcription	Brain Germinal Matrix	brain
28	chr1:214811000-214825400	Strong transcription	HSMM	muscle
29	chr1:214811200-214841600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
30	chr1:214811400-214841600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr1:214811600-214825200	Strong transcription	Cortex derived primary cultured neurospheres	brain
32	chr1:214811600-214833600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr1:214811600-214840400	Strong transcription	H9 Cell Line	embryonic stem cell
34	chr1:214811800-214833800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr1:214812000-214825400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr1:214812000-214840600	Strong transcription	Thymus	Thymus
37	chr1:214812200-214834200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr1:214812600-214829200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr1:214812800-214846000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr1:214813400-214840600	Strong transcription	HUVEC	blood vessel
41	chr1:214814200-214841400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr1:214816600-214829400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr1:214816600-214841600	Weak transcription	Fetal Brain Female	brain
44	chr1:214817400-214825200	Strong transcription	Fetal Muscle Leg	muscle
45	chr1:214818000-214825600	Strong transcription	Fetal Muscle Trunk	muscle
46	chr1:214818000-214827200	Strong transcription	ES-I3 Cell Line	embryonic stem cell
47	chr1:214818600-214824800	Strong transcription	iPS-15b Cell Line	embryonic stem cell
48	chr1:214818800-214833200	Weak transcription	Placenta Amnion	Placenta Amnion
49	chr1:214819200-214829600	Weak transcription	Placenta	Placenta
50	chr1:214819200-214843000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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