Variant report

Variant	rs12069828
Chromosome Location	chr1:211827819-211827820
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:13)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:13 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr1:211826419-211827829	Hela-S3	cervix:	n/a	chr1:211826833-211826844
2	CTCF	chr1:211827720-211827870	GM12872	blood:	n/a	n/a
3	POLR2A	chr1:211826517-211829499	Hela-S3	cervix:	n/a	n/a
4	RAD21	chr1:211827404-211828012	IMR90	lung:	n/a	n/a
5	FOXA2	chr1:211827282-211827921	A549	lung:	n/a	n/a
6	MAX	chr1:211827628-211827864	HepG2	liver:	n/a	n/a
7	MAZ	chr1:211827680-211827880	HepG2	liver:	n/a	n/a
8	FOXA2	chr1:211827369-211827892	A549	lung:	n/a	n/a
9	MYC	chr1:211827634-211827958	K562	blood:	n/a	n/a
10	USF1	chr1:211827596-211827878	HepG2	liver:	n/a	n/a
11	GATA2	chr1:211827200-211828024	HUVEC	blood vessel:	n/a	n/a
12	FOXA1	chr1:211827377-211827919	HepG2	liver:	n/a	n/a
13	MXI1	chr1:211827602-211827947	HepG2	liver:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:211750915..211755112-chr1:211826013..211829699,5	K562	blood:
2	chr1:211824090..211825687-chr1:211827375..211829045,2	MCF-7	breast:
3	chr1:211743190..211745097-chr1:211827808..211829565,2	MCF-7	breast:
4	chr1:211827406..211830383-chr1:211837337..211839241,2	MCF-7	breast:
5	chr1:211751216..211754175-chr1:211827530..211832882,6	K562	blood:
6	chr1:211432213..211433980-chr1:211827249..211829454,2	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TRAF5-5	chr1:211827386-211827923	ENSG00000227764
2	lnc-TRAF5-5	chr1:211827386-211828056	NONHSAT009306

No data

Variant related genes	Relation type
ENSG00000222080	TF binding region
ENSG00000117625	Chromatin interaction
ENSG00000170385	Chromatin interaction

rs_ID	r²[population]
rs11119781	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12059593	1.00[EUR][1000 genomes]
rs12059673	1.00[EUR][1000 genomes]
rs12061213	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12084324	1.00[EUR][1000 genomes]
rs12085440	1.00[EUR][1000 genomes]
rs12085684	1.00[EUR][1000 genomes]
rs12086556	1.00[EUR][1000 genomes]
rs12089298	0.83[AMR][1000 genomes]
rs17017861	1.00[EUR][1000 genomes]
rs28463715	1.00[EUR][1000 genomes]
rs55635902	1.00[EUR][1000 genomes]
rs55766448	1.00[EUR][1000 genomes]
rs55860373	1.00[EUR][1000 genomes]
rs56299016	1.00[EUR][1000 genomes]
rs58355459	1.00[EUR][1000 genomes]
rs73073399	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73075304	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73075309	0.96[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:211811400-211829600	Enhancers	Fetal Intestine Small	intestine
2	chr1:211811600-211828200	Enhancers	Fetal Intestine Large	intestine
3	chr1:211817600-211830600	Weak transcription	Right Atrium	heart
4	chr1:211818400-211828400	Weak transcription	Adipose Nuclei	Adipose
5	chr1:211821800-211828400	Weak transcription	Colonic Mucosa	Colon
6	chr1:211822200-211828400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr1:211822800-211828200	Weak transcription	Liver	Liver
8	chr1:211822800-211828200	Weak transcription	Pancreas	Pancrea
9	chr1:211824000-211828200	Weak transcription	Stomach Mucosa	stomach
10	chr1:211824400-211828000	Weak transcription	Duodenum Mucosa	Duodenum
11	chr1:211825800-211828800	Enhancers	Placenta	Placenta
12	chr1:211826400-211828400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr1:211826400-211828600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr1:211826400-211828600	Flanking Active TSS	Hela-S3	cervix
15	chr1:211826800-211828000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr1:211826800-211828200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr1:211826800-211828600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr1:211826800-211828600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr1:211826800-211828800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr1:211826800-211829600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr1:211827000-211828200	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr1:211827000-211828400	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr1:211827000-211828600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr1:211827000-211828600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr1:211827000-211828600	Enhancers	Muscle Satellite Cultured Cells	--
26	chr1:211827000-211828600	Enhancers	HMEC	breast
27	chr1:211827000-211828600	Enhancers	NHDF-Ad	bronchial
28	chr1:211827000-211828800	Enhancers	NH-A	brain
29	chr1:211827000-211829000	Enhancers	K562	blood
30	chr1:211827000-211829200	Enhancers	A549	lung
31	chr1:211827200-211828000	Flanking Active TSS	HepG2	liver
32	chr1:211827400-211828000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
33	chr1:211827400-211828200	Enhancers	Fetal Lung	lung
34	chr1:211827400-211828400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr1:211827400-211828600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr1:211827400-211828600	Enhancers	Fetal Heart	heart
37	chr1:211827400-211829000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr1:211827600-211828400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr1:211827600-211828600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr1:211827600-211828600	Bivalent Enhancer	Fetal Stomach	stomach
41	chr1:211827600-211828800	Enhancers	HUVEC	blood vessel
42	chr1:211827600-211833800	Weak transcription	Monocytes-CD14+_RO01746	blood
43	chr1:211827600-211837600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr1:211827600-211847600	Weak transcription	HSMM	muscle
45	chr1:211827600-211847600	Weak transcription	NHEK	skin
46	chr1:211827800-211828200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr1:211827800-211828200	Weak transcription	Brain Cingulate Gyrus	brain
48	chr1:211827800-211828200	Weak transcription	NHLF	lung
49	chr1:211827800-211828200	Weak transcription	Osteobl	bone
50	chr1:211827800-211828400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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