Variant report

Variant	rs12744135
Chromosome Location	chr1:212229222-212229223
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:26)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:26 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr1:212228871-212229304	K562	blood:	n/a	n/a
2	POLR2A	chr1:212228475-212229695	K562	blood:	n/a	n/a
3	SETDB1	chr1:212228617-212229546	K562	blood:	n/a	n/a
4	POLR2A	chr1:212228729-212229363	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr1:212228583-212229952	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr1:212228593-212229686	HL-60	blood:	n/a	n/a
7	POLR2A	chr1:212229062-212229320	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr1:212228973-212229848	K562	blood:	n/a	n/a
9	POLR2A	chr1:212228708-212229549	GM12892	blood:	n/a	n/a
10	POLR2A	chr1:212229074-212229478	A549	lung:	n/a	n/a
11	SETDB1	chr1:212228409-212231670	K562	blood:	n/a	n/a
12	POLR2A	chr1:212228807-212229384	GM12891	blood:	n/a	n/a
13	POLR2A	chr1:212228108-212230032	K562	blood:	n/a	n/a
14	POLR2A	chr1:212228876-212229350	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr1:212229100-212229531	GM12878	blood:	n/a	n/a
16	POLR2A	chr1:212228728-212229438	Hela-S3	cervix:	n/a	n/a
17	POLR2A	chr1:212228631-212229747	GM12892	blood:	n/a	n/a
18	POLR2A	chr1:212228734-212229264	GM12878	blood:	n/a	n/a
19	POLR2A	chr1:212228603-212229771	Hela-S3	cervix:	n/a	n/a
20	CBX3	chr1:212228827-212229335	K562	blood:	n/a	n/a
21	POLR2A	chr1:212228599-212229732	GM12892	blood:	n/a	n/a
22	POLR2A	chr1:212228960-212229322	GM12892	blood:	n/a	n/a
23	POLR2A	chr1:212228212-212233601	K562	blood:	n/a	n/a
24	POLR2A	chr1:212228739-212229258	GM12878	blood:	n/a	n/a
25	POLR2A	chr1:212228142-212230048	K562	blood:	n/a	n/a
26	POLR2A	chr1:212228894-212229402	GM12878	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr1:212227506..212231237-chr1:212233553..212238482,7	K562	blood:
2	chr1:212223004..212226012-chr1:212226300..212230375,4	K562	blood:
3	chr1:212219058..212220568-chr1:212226723..212229507,2	K562	blood:
4	chr1:212225925..212230498-chr1:212230640..212238482,9	K562	blood:

No data

Variant related genes	Relation type
RPL21P28	TF binding region
ENSG00000220749	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs11119825	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11119826	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11119827	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11119844	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12120122	0.89[ASN][1000 genomes]
rs12120150	0.89[ASN][1000 genomes]
rs12122247	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12122488	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12124877	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12125159	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12126761	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12127488	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12130548	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12131060	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12131750	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12132233	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12132812	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12144471	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12145020	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12146085	0.86[ASN][1000 genomes]
rs12567425	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12723988	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12747761	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12749452	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12750872	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12755278	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12759730	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17018334	0.81[ASN][1000 genomes]
rs17018421	0.97[ASN][1000 genomes]
rs17018532	0.94[ASN][1000 genomes]
rs1965955	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2200944	0.97[ASN][1000 genomes]
rs34192465	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34841259	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35325760	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3762453	0.91[ASN][1000 genomes]
rs3795836	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs71646137	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72748568	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72750369	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999738	chr1:212218618-212513690	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212209600-212253000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr1:212210800-212241200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr1:212214400-212278000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr1:212215600-212233000	Strong transcription	HUES6 Cell Line	embryonic stem cell
5	chr1:212216200-212233200	Strong transcription	HUES48 Cell Line	embryonic stem cell
6	chr1:212216400-212229400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr1:212217000-212232800	Strong transcription	Dnd41	blood
8	chr1:212218000-212231000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr1:212218000-212231800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
10	chr1:212225400-212230000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr1:212225800-212230000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr1:212226200-212233000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr1:212226200-212233000	ZNF genes & repeats	K562	blood
14	chr1:212226400-212230000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr1:212226600-212230400	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr1:212226600-212237600	Weak transcription	NHDF-Ad	bronchial
17	chr1:212226800-212229800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr1:212227000-212229400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr1:212227000-212230000	Strong transcription	HMEC	breast
20	chr1:212227000-212230600	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr1:212227200-212230000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
22	chr1:212227200-212230000	Strong transcription	NHEK	skin
23	chr1:212227200-212230800	Strong transcription	Primary neutrophils fromperipheralblood	blood
24	chr1:212227200-212231200	Strong transcription	HepG2	liver
25	chr1:212227400-212229800	Strong transcription	H9 Cell Line	embryonic stem cell
26	chr1:212227400-212230000	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr1:212227600-212230000	Strong transcription	Osteobl	bone
28	chr1:212227600-212230600	Strong transcription	ES-I3 Cell Line	embryonic stem cell
29	chr1:212227800-212229400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
30	chr1:212228200-212229400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr1:212228200-212231200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
32	chr1:212228200-212231400	ZNF genes & repeats	GM12878-XiMat	blood
33	chr1:212228400-212229600	ZNF genes & repeats	Brain Germinal Matrix	brain
34	chr1:212228400-212229600	Strong transcription	NHLF	lung
35	chr1:212228400-212229800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr1:212228400-212229800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr1:212228400-212230000	Strong transcription	Muscle Satellite Cultured Cells	--
38	chr1:212228400-212230200	ZNF genes & repeats	A549	lung
39	chr1:212228600-212229400	ZNF genes & repeats	Esophagus	oesophagus
40	chr1:212228600-212229600	Enhancers	Pancreas	Pancrea
41	chr1:212228600-212229800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr1:212228600-212229800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr1:212228600-212229800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr1:212228600-212229800	ZNF genes & repeats	Fetal Intestine Small	intestine
45	chr1:212228600-212229800	Strong transcription	Fetal Muscle Trunk	muscle
46	chr1:212228600-212230400	Strong transcription	HUVEC	blood vessel
47	chr1:212228600-212231600	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
48	chr1:212228600-212231800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr1:212228600-212237800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr1:212228800-212229600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell

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