Variant report

Variant	rs4802031
Chromosome Location	chr19:39970715-39970716
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:15)
CpG islands
(count:0)
Chromatin interactive
region (count:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:15 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr19:39970630-39972480	SK-N-SH	brain:	n/a	chr19:39971811-39971820 chr19:39971813-39971822
2	POLR2A	chr19:39970359-39972524	K562	blood:	n/a	n/a
3	POLR2A	chr19:39947157-39987373	PANC-1	pancreas:	n/a	n/a
4	NR2F2	chr19:39970021-39972664	K562	blood:	n/a	n/a
5	MXI1	chr19:39970547-39972313	IMR90	lung:	n/a	chr19:39971811-39971820 chr19:39971813-39971822
6	JUN	chr19:39970297-39972660	K562	blood:	n/a	n/a
7	POLR2A	chr19:39970150-39972565	GM12878	blood:	n/a	n/a
8	POLR2A	chr19:39970204-39970822	GM12891	blood:	n/a	n/a
9	BCL3	chr19:39970584-39972474	A549	lung:	n/a	chr19:39972083-39972092
10	SIN3AK20	chr19:39970475-39973057	PANC-1	pancreas:	n/a	n/a
11	POLR2A	chr19:39970650-39970851	HepG2	liver:	n/a	n/a
12	TCF12	chr19:39970580-39972579	A549	lung:	n/a	chr19:39971783-39971790
13	ESRRA	chr19:39970619-39973183	GM12878	blood:	n/a	chr19:39972390-39972403
14	SIN3AK20	chr19:39970208-39973088	PANC-1	pancreas:	n/a	n/a
15	MTA3	chr19:39970613-39972178	GM12878	blood:	n/a	n/a

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:39934091..39937562-chr19:39970121..39972977,5	K562	blood:
2	chr19:39934091..39937114-chr19:39969895..39972879,3	K562	blood:
3	chr19:39969179..39972823-chr19:40019268..40024259,8	K562	blood:
4	chr19:39962317..39966816-chr19:39969995..39972771,6	MCF-7	breast:
5	chr19:39970388..39973416-chr19:39987093..39991960,6	MCF-7	breast:
6	chr19:39923294..39928217-chr19:39969939..39976745,7	K562	blood:
7	chr19:39934676..39937838-chr19:39970025..39973557,7	MCF-7	breast:
8	chr19:39924549..39928313-chr19:39970394..39973544,4	MCF-7	breast:
9	chr19:39969762..39972823-chr19:40020818..40024781,5	K562	blood:
10	chr19:39962880..39966942-chr19:39968746..39972707,4	K562	blood:
11	chr19:39926650..39928509-chr19:39969774..39972138,2	MCF-7	breast:
12	chr19:39969776..39971710-chr8:125561754..125564240,2	MCF-7	breast:
13	chr19:39902436..39904048-chr19:39969524..39972192,2	K562	blood:
14	chr19:39956900..39963294-chr19:39968062..39973681,7	MCF-7	breast:
15	chr19:39955020..39957486-chr19:39970318..39972255,2	MCF-7	breast:
16	chr19:39934619..39937838-chr19:39970480..39972998,6	MCF-7	breast:
17	chr19:39960496..39962184-chr19:39970692..39973089,3	MCF-7	breast:

No data

Variant related genes	Relation type
TIMM50	TF binding region
ENSG00000196235	Chromatin interaction
ENSG00000090932	Chromatin interaction
ENSG00000090924	Chromatin interaction
ENSG00000147684	Chromatin interaction
ENSG00000105193	Chromatin interaction
ENSG00000269792	Chromatin interaction
ENSG00000176401	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs2288933	0.83[AMR][1000 genomes]
rs2304221	0.81[AMR][1000 genomes]
rs4803245	0.81[AMR][1000 genomes]
rs4803246	0.81[AMR][1000 genomes]
rs4803247	0.81[AMR][1000 genomes]
rs6508864	0.81[AMR][1000 genomes]
rs6508865	0.81[AMR][1000 genomes]
rs7251384	0.81[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv911689	chr19:39903088-40021759	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
2	nsv911690	chr19:39903088-40046863	Weak transcription Bivalent Enhancer Strong transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	nsv523856	chr19:39913558-39997472	Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
4	nsv544003	chr19:39937078-39974282	Weak transcription Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:39937000-39971000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr19:39937400-39971000	Weak transcription	Right Atrium	heart
3	chr19:39962200-39970800	Weak transcription	Psoas Muscle	Psoas
4	chr19:39962800-39970800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr19:39963000-39970800	Weak transcription	Hela-S3	cervix
6	chr19:39965600-39970800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr19:39965600-39970800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr19:39965600-39970800	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr19:39965800-39970800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr19:39965800-39970800	Weak transcription	Fetal Brain Male	brain
11	chr19:39966000-39970800	Weak transcription	HMEC	breast
12	chr19:39967200-39970800	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr19:39967200-39970800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr19:39967200-39970800	Weak transcription	HSMMtube	muscle
15	chr19:39967200-39971000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr19:39967200-39971000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr19:39967200-39971000	Weak transcription	Ovary	ovary
18	chr19:39967200-39971000	Weak transcription	NHLF	lung
19	chr19:39967400-39970800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr19:39967400-39970800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr19:39967400-39970800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr19:39967400-39970800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr19:39967400-39971000	Weak transcription	Aorta	Aorta
24	chr19:39967400-39971000	Weak transcription	Esophagus	oesophagus
25	chr19:39967400-39971000	Weak transcription	Gastric	stomach
26	chr19:39967400-39971000	Weak transcription	Left Ventricle	heart
27	chr19:39967600-39970800	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr19:39967600-39970800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr19:39967600-39970800	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr19:39967600-39970800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr19:39967600-39970800	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr19:39967600-39970800	Weak transcription	Fetal Brain Female	brain
33	chr19:39967600-39970800	Weak transcription	Placenta	Placenta
34	chr19:39967600-39970800	Weak transcription	GM12878-XiMat	blood
35	chr19:39967600-39970800	Weak transcription	HUVEC	blood vessel
36	chr19:39967600-39971000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr19:39967600-39971000	Weak transcription	Right Ventricle	heart
38	chr19:39967600-39971200	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr19:39967800-39970800	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr19:39967800-39970800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr19:39967800-39970800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr19:39967800-39970800	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr19:39967800-39970800	Weak transcription	Colonic Mucosa	Colon
44	chr19:39967800-39970800	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr19:39967800-39970800	Weak transcription	NH-A	brain
46	chr19:39967800-39970800	Weak transcription	Osteobl	bone
47	chr19:39967800-39971000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr19:39967800-39971000	Weak transcription	Placenta Amnion	Placenta Amnion
49	chr19:39967800-39971000	Weak transcription	HSMM	muscle
50	chr19:39967800-39971000	Weak transcription	NHDF-Ad	bronchial

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