Variant report

Variant	rs9743822
Chromosome Location	chr14:105903724-105903725
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:30)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:30 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:105903376-105903969	A549	lung:	n/a	n/a
2	POLR2A	chr14:105903299-105903982	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr14:105903373-105903954	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr14:105903216-105903877	GM12891	blood:	n/a	n/a
5	POLR2A	chr14:105903254-105903996	GM12892	blood:	n/a	n/a
6	TCF12	chr14:105903216-105903985	ECC-1	luminal epithelium:	n/a	n/a
7	POLR2A	chr14:105903607-105903935	GM12892	blood:	n/a	n/a
8	MYC	chr14:105903482-105903926	MCF-7	breast:	n/a	n/a
9	POLR2A	chr14:105903344-105903862	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr14:105903386-105903971	MCF-7	breast:	n/a	n/a
11	ZEB1	chr14:105903415-105903780	GM12878	blood:	n/a	chr14:105903624-105903633 chr14:105903494-105903505 chr14:105903582-105903591
12	MYC	chr14:105903623-105903858	MCF-7	breast:	n/a	n/a
13	POLR2A	chr14:105903485-105903946	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr14:105903664-105903927	HepG2	liver:	n/a	n/a
15	POLR2A	chr14:105903616-105903912	K562	blood:	n/a	n/a
16	MYC	chr14:105903662-105903844	MCF-7	breast:	n/a	n/a
17	MYC	chr14:105903484-105903939	MCF-7	breast:	n/a	n/a
18	POLR2A	chr14:105903234-105904173	GM12878	blood:	n/a	n/a
19	MYC	chr14:105903578-105903748	MCF10A-Er-Src	breast:	n/a	n/a
20	POLR2A	chr14:105903594-105903853	A549	lung:	n/a	n/a
21	POLR2A	chr14:105903390-105903815	GM12891	blood:	n/a	n/a
22	POLR2A	chr14:105903474-105903914	A549	lung:	n/a	n/a
23	POLR2A	chr14:105903457-105904108	GM12878	blood:	n/a	n/a
24	POLR2A	chr14:105903402-105904164	HepG2	liver:	n/a	n/a
25	POLR2A	chr14:105903229-105904225	K562	blood:	n/a	n/a
26	POLR2A	chr14:105903552-105903884	MCF-7	breast:	n/a	n/a
27	POLR2A	chr14:105903631-105903726	Hela-S3	cervix:	n/a	n/a
28	POLR2A	chr14:105903351-105903962	GM12878	blood:	n/a	n/a
29	POLR2A	chr14:105903162-105907637	SK-N-MC	brain:	n/a	n/a
30	POLR2A	chr14:105903103-105904010	GM12892	blood:	n/a	n/a

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:105902756..105906780-chr14:105956006..105959134,5	MCF-7	breast:
2	chr14:105902283..105908432-chr14:105944817..105951373,9	MCF-7	breast:
3	chr14:105901633..105904237-chr14:105946344..105949150,3	MCF-7	breast:
4	chr14:105902344..105906632-chr14:105939228..105943259,7	MCF-7	breast:
5	chr14:105902143..105905160-chr14:105940011..105943136,5	MCF-7	breast:
6	chr14:105902565..105906697-chr14:105932169..105936497,4	MCF-7	breast:
7	chr14:105901332..105904170-chr14:105928537..105930425,2	K562	blood:
8	chr14:105884242..105887668-chr14:105902479..105906192,4	MCF-7	breast:
9	chr14:105902828..105905242-chr14:105930834..105932344,2	K562	blood:
10	chr14:105901600..105904244-chr14:105952387..105954738,2	MCF-7	breast:
11	chr14:105890219..105897355-chr14:105898483..105904459,8	MCF-7	breast:
12	chr14:105885358..105889451-chr14:105901895..105905959,5	MCF-7	breast:

No data

Variant related genes	Relation type
MTA1	TF binding region
ENSG00000251602	Chromatin interaction
ENSG00000185347	Chromatin interaction
ENSG00000182979	Chromatin interaction
ENSG00000182809	Chromatin interaction
ENSG00000257341	Chromatin interaction
ENSG00000213145	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10147154	1.00[CHD][hapmap]
rs11160844	0.90[AFR][1000 genomes]
rs11621365	1.00[CHD][hapmap];0.86[MKK][hapmap]
rs11845995	1.00[CHD][hapmap]
rs12432166	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs12435378	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs3936032	0.89[YRI][hapmap]
rs4074000	0.85[YRI][hapmap]
rs4074001	1.00[CHD][hapmap];0.82[LWK][hapmap];0.89[YRI][hapmap]
rs4983407	0.88[ASW][hapmap];1.00[CHD][hapmap];0.89[LWK][hapmap];0.83[MKK][hapmap];0.93[YRI][hapmap];0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4983414	0.82[ASW][hapmap];1.00[CHD][hapmap];0.86[YRI][hapmap]
rs4983418	1.00[CHD][hapmap]
rs4983614	1.00[CHD][hapmap];0.87[MKK][hapmap]
rs4983620	1.00[ASN][1000 genomes]
rs4983624	0.89[YRI][hapmap]
rs4983628	1.00[ASN][1000 genomes]
rs6576099	1.00[CHD][hapmap]
rs6576106	0.96[YRI][hapmap]
rs7143586	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7144639	1.00[ASN][1000 genomes]
rs7153174	1.00[CHD][hapmap];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7161158	1.00[CHD][hapmap]
rs7492842	0.96[YRI][hapmap];0.93[AFR][1000 genomes]
rs7493450	0.96[YRI][hapmap]
rs7493964	0.82[YRI][hapmap]
rs8005552	1.00[CHD][hapmap];0.92[YRI][hapmap]
rs8018272	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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	nsv530813	chr14:105607701-106453697	Strong transcription Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	149 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:105887600-105919000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr14:105888400-105904600	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr14:105888600-105914800	Weak transcription	Rectal Smooth Muscle	rectum
4	chr14:105888600-105918400	Weak transcription	Colon Smooth Muscle	Colon
5	chr14:105888800-105908600	Weak transcription	Duodenum Mucosa	Duodenum
6	chr14:105889200-105904400	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr14:105889200-105905400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr14:105889200-105905400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr14:105889200-105939800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr14:105889200-105939800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr14:105889400-105905200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr14:105889400-105908600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr14:105889400-105914400	Weak transcription	Brain Hippocampus Middle	brain
14	chr14:105889400-105914800	Weak transcription	Brain Cingulate Gyrus	brain
15	chr14:105889400-105916400	Weak transcription	Brain Anterior Caudate	brain
16	chr14:105889600-105905600	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr14:105890400-105916200	Weak transcription	Primary T helper cells fromperipheralblood	blood
18	chr14:105891600-105904800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr14:105893400-105908600	Weak transcription	Colonic Mucosa	Colon
20	chr14:105893600-105908400	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr14:105893600-105908600	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr14:105894000-105905200	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr14:105897200-105905200	Weak transcription	Fetal Intestine Large	intestine
24	chr14:105897400-105905200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr14:105897400-105905400	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr14:105897400-105908800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr14:105897400-105914800	Weak transcription	Right Atrium	heart
28	chr14:105897400-105917000	Weak transcription	Primary B cells from cord blood	blood
29	chr14:105897600-105903800	Weak transcription	Left Ventricle	heart
30	chr14:105897600-105904200	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr14:105897600-105905400	Weak transcription	Adipose Nuclei	Adipose
32	chr14:105897600-105908800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr14:105897600-105909000	Weak transcription	Aorta	Aorta
34	chr14:105897600-105909000	Weak transcription	HSMMtube	muscle
35	chr14:105897600-105914600	Weak transcription	Fetal Lung	lung
36	chr14:105897600-105927200	Weak transcription	NH-A	brain
37	chr14:105897800-105905200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr14:105897800-105905400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr14:105897800-105908200	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr14:105897800-105940000	Weak transcription	K562	blood
41	chr14:105898000-105904600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr14:105898000-105905200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr14:105898000-105909000	Weak transcription	Primary hematopoietic stem cells	blood
44	chr14:105898400-105908800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr14:105898400-105931600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr14:105898400-105939800	Weak transcription	NHDF-Ad	bronchial
47	chr14:105898600-105906000	Weak transcription	Osteobl	bone
48	chr14:105899800-105909000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr14:105900000-105904000	Weak transcription	Pancreas	Pancrea
50	chr14:105900000-105905200	Weak transcription	HUES6 Cell Line	embryonic stem cell

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