Variant report

Variant	rs3795833
Chromosome Location	chr1:211827721-211827722
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:17)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:17 , 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	CTCF	chr1:211827640-211827790	HCPEpiC	choroid plexus:	n/a	n/a
8	MAX	chr1:211827302-211827742	Hela-S3	cervix:	n/a	n/a
9	MAZ	chr1:211827680-211827880	HepG2	liver:	n/a	n/a
10	FOXA2	chr1:211827369-211827892	A549	lung:	n/a	n/a
11	MYC	chr1:211827634-211827958	K562	blood:	n/a	n/a
12	USF1	chr1:211827596-211827878	HepG2	liver:	n/a	n/a
13	GATA2	chr1:211827200-211828024	HUVEC	blood vessel:	n/a	n/a
14	CEBPB	chr1:211827431-211827764	HepG2	liver:	n/a	n/a
15	RAD21	chr1:211826452-211827770	Hela-S3	cervix:	n/a	n/a
16	FOXA1	chr1:211827377-211827919	HepG2	liver:	n/a	n/a
17	MXI1	chr1:211827602-211827947	HepG2	liver:	n/a	n/a

No data

(count:5 , 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	chr1:211827406..211830383-chr1:211837337..211839241,2	MCF-7	breast:
4	chr1:211751216..211754175-chr1:211827530..211832882,6	K562	blood:
5	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

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11800719	0.95[ASN][1000 genomes]
rs11805128	0.91[CHB][hapmap];0.86[JPT][hapmap];0.95[ASN][1000 genomes]
rs12060511	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs12065353	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs1530400	0.83[CHB][hapmap];0.81[ASN][1000 genomes]
rs17017862	0.91[YRI][hapmap]
rs17017912	1.00[YRI][hapmap]
rs17017917	1.00[YRI][hapmap]
rs17017943	1.00[YRI][hapmap]
rs4951541	0.86[JPT][hapmap]
rs6661346	0.80[YRI][hapmap]
rs6674448	1.00[YRI][hapmap]
rs7539737	1.00[YRI][hapmap]
rs7551341	0.91[CHB][hapmap];0.82[ASN][1000 genomes]
rs7553718	0.91[CHB][hapmap];0.82[ASN][1000 genomes]
rs7554315	0.83[CHB][hapmap];0.81[ASN][1000 genomes]

No data

Chromatin state (count:56 , 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	chr1:211827000-211827800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr1:211827000-211827800	Enhancers	NHLF	lung
23	chr1:211827000-211827800	Enhancers	Osteobl	bone
24	chr1:211827000-211828200	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr1:211827000-211828400	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr1:211827000-211828600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr1:211827000-211828600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr1:211827000-211828600	Enhancers	Muscle Satellite Cultured Cells	--
29	chr1:211827000-211828600	Enhancers	HMEC	breast
30	chr1:211827000-211828600	Enhancers	NHDF-Ad	bronchial
31	chr1:211827000-211828800	Enhancers	NH-A	brain
32	chr1:211827000-211829000	Enhancers	K562	blood
33	chr1:211827000-211829200	Enhancers	A549	lung
34	chr1:211827200-211828000	Flanking Active TSS	HepG2	liver
35	chr1:211827400-211827800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr1:211827400-211827800	Enhancers	Brain Cingulate Gyrus	brain
37	chr1:211827400-211827800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
38	chr1:211827400-211828000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
39	chr1:211827400-211828200	Enhancers	Fetal Lung	lung
40	chr1:211827400-211828400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr1:211827400-211828600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr1:211827400-211828600	Enhancers	Fetal Heart	heart
43	chr1:211827400-211829000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr1:211827600-211827800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
45	chr1:211827600-211827800	Enhancers	Primary hematopoietic stem cells short term culture	blood
46	chr1:211827600-211827800	Enhancers	Cortex derived primary cultured neurospheres	brain
47	chr1:211827600-211827800	Enhancers	Placenta Amnion	Placenta Amnion
48	chr1:211827600-211827800	Enhancers	Rectal Mucosa Donor 31	rectum
49	chr1:211827600-211828400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr1:211827600-211828600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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