Variant report

Variant	rs186431236
Chromosome Location	chr3:49054826-49054827
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:79)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:79 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr3:49052944-49056404	MCF10A-Er-Src	breast:	n/a	n/a
2	CREB1	chr3:49054822-49056333	GM12878	blood:	n/a	n/a
3	FOSL2	chr3:49054463-49055039	HepG2	liver:	n/a	n/a
4	POLR2A	chr3:49050113-49067296	HepG2	liver:	n/a	n/a
5	POLR2A	chr3:49053148-49056378	GM12878	blood:	n/a	n/a
6	POLR2A	chr3:49052980-49056417	HL-60	blood:	n/a	n/a
7	POLR2A	chr3:49051503-49056616	SK-N-SH	brain:	n/a	n/a
8	POLR2A	chr3:49052474-49059791	PANC-1	pancreas:	n/a	n/a
9	POLR2A	chr3:49053662-49056450	U87	brain:	n/a	n/a
10	POLR2A	chr3:49049681-49055610	GM12891	blood:	n/a	n/a
11	PBX3	chr3:49053536-49056625	SK-N-SH	brain:	n/a	n/a
12	ZNF263	chr3:49054441-49055758	HEK293-T-REx	kidney:	n/a	n/a
13	POLR2A	chr3:49054817-49056438	GM19099	blood:	n/a	n/a
14	SIN3AK20	chr3:49054346-49056362	SK-N-SH	brain:	n/a	n/a
15	POLR2A	chr3:49048502-49056486	GM12878	blood:	n/a	n/a
16	POLR2A	chr3:49048842-49056486	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chr3:49048845-49056419	GM12891	blood:	n/a	n/a
18	MTA3	chr3:49054570-49056526	GM12878	blood:	n/a	n/a
19	POLR2A	chr3:49052548-49056350	K562	blood:	n/a	n/a
20	POLR2A	chr3:49051566-49056520	GM12878	blood:	n/a	n/a
21	NFATC1	chr3:49054500-49055574	GM12878	blood:	n/a	n/a
22	FOXM1	chr3:49054770-49055365	GM12878	blood:	n/a	n/a
23	POLR2A	chr3:49054806-49056278	H1-neurons	neurons:	n/a	n/a
24	POLR2A	chr3:49051954-49056421	H1-hESC	embryonic stem cell:	n/a	n/a
25	POLR2A	chr3:49053617-49056538	U87	brain:	n/a	n/a
26	POLR2A	chr3:49051952-49055393	GM12892	blood:	n/a	n/a
27	POLR2A	chr3:49052566-49055998	A549	lung:	n/a	n/a
28	POLR2A	chr3:49054548-49054897	HCT-116	colon:	n/a	n/a
29	POLR2A	chr3:49050908-49056374	ECC-1	luminal epithelium:	n/a	n/a
30	POLR2A	chr3:49052097-49056367	H1-neurons	neurons:	n/a	n/a
31	POLR2A	chr3:49052736-49056323	Hela-S3	cervix:	n/a	n/a
32	POLR2A	chr3:49048918-49055399	GM12892	blood:	n/a	n/a
33	POLR2A	chr3:49053331-49056321	HUVEC	blood vessel:	n/a	n/a
34	POLR2A	chr3:49048783-49056505	GM12892	blood:	n/a	n/a
35	POLR2A	chr3:49054163-49056367	Hela-S3	cervix:	n/a	n/a
36	POLR2A	chr3:49052798-49054881	SK-N-SH	brain:	n/a	n/a
37	HCFC1	chr3:49054606-49056558	Hela-S3	cervix:	n/a	n/a
38	MTA3	chr3:49053209-49056613	GM12878	blood:	n/a	n/a
39	POLR2A	chr3:49048897-49056290	GM12891	blood:	n/a	n/a
40	POLR2A	chr3:49051541-49056898	K562	blood:	n/a	n/a
41	POLR2A	chr3:49053209-49056861	GM12891	blood:	n/a	n/a
42	MXI1	chr3:49054354-49056631	SK-N-SH	brain:	n/a	n/a
43	POLR2A	chr3:49052889-49056613	HCT-116	colon:	n/a	n/a
44	POLR2A	chr3:49054760-49056402	Raji	blood:	n/a	n/a
45	POLR2A	chr3:49052846-49056620	K562	blood:	n/a	n/a
46	POLR2A	chr3:49053880-49054871	Hela-S3	cervix:	n/a	n/a
47	PML	chr3:49052717-49056611	GM12878	blood:	n/a	n/a
48	POLR2A	chr3:49052988-49056596	ECC-1	luminal epithelium:	n/a	n/a
49	POLR2A	chr3:49053373-49056652	HUVEC	blood vessel:	n/a	n/a
50	POLR2A	chr3:49052283-49056597	HL-60	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr3:49054288..49061452-chr3:49128946..49133927,24	K562	blood:
2	chr3:49052737..49055601-chr3:49169653..49171785,2	MCF-7	breast:
3	chr14:105265057..105267677-chr3:49054198..49056753,2	MCF-7	breast:
4	chr3:49052218..49068794-chr3:49126865..49133927,44	K562	blood:
5	chr3:48720679..48723641-chr3:49054826..49057455,2	K562	blood:
6	chr3:49054710..49056578-chr3:49447542..49450495,2	K562	blood:

No data

Variant related genes	Relation type
DALRD3	TF binding region
NDUFAF3	TF binding region
ENSG00000179627	Chromatin interaction
ENSG00000198218	Chromatin interaction
ENSG00000213672	Chromatin interaction
ENSG00000172037	Chromatin interaction
ENSG00000145022	Chromatin interaction
ENSG00000067560	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv876764	chr3:49040462-49245645	Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	279 gene(s)	inside rSNPs	diseases
2	esv3323398	chr3:49053998-49056796	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	25 gene(s)	inside rSNPs	diseases
3	esv3339864	chr3:49054573-49057121	Flanking Active TSS Enhancers Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	25 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	chr3:49045800-49055000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr3:49051400-49055000	Weak transcription	Right Atrium	heart
3	chr3:49053400-49056000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr3:49053800-49055000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr3:49053800-49055000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr3:49053800-49055000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr3:49053800-49055200	Weak transcription	Aorta	Aorta
8	chr3:49054000-49055000	Weak transcription	Gastric	stomach
9	chr3:49054000-49055000	Weak transcription	Left Ventricle	heart
10	chr3:49054000-49055400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr3:49054200-49055000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr3:49054200-49055000	Genic enhancers	Cortex derived primary cultured neurospheres	brain
13	chr3:49054200-49055000	Weak transcription	Brain Substantia Nigra	brain
14	chr3:49054400-49055000	Enhancers	Primary T cells fromperipheralblood	blood
15	chr3:49054400-49055000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
16	chr3:49054400-49055000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
17	chr3:49054400-49055000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
18	chr3:49054400-49055000	Enhancers	Primary T helper cells fromperipheralblood	blood
19	chr3:49054400-49055000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
20	chr3:49054400-49055000	Enhancers	Primary T killer memory cells from peripheral blood	blood
21	chr3:49054400-49055000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr3:49054400-49055000	Genic enhancers	Fetal Muscle Trunk	muscle
23	chr3:49054400-49055000	Genic enhancers	Fetal Stomach	stomach
24	chr3:49054400-49055000	Weak transcription	Thymus	Thymus
25	chr3:49054400-49055000	Enhancers	Spleen	Spleen
26	chr3:49054400-49055000	Enhancers	NH-A	brain
27	chr3:49054400-49055000	Transcr. at gene 5' and 3'	NHLF	lung
28	chr3:49054400-49055400	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr3:49054400-49055600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
30	chr3:49054400-49057600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr3:49054600-49055000	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr3:49054600-49055000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr3:49054600-49055000	Enhancers	Primary monocytes fromperipheralblood	blood
34	chr3:49054600-49055000	Enhancers	Primary B cells from peripheral blood	blood
35	chr3:49054600-49055000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr3:49054600-49055000	Enhancers	Liver	Liver
37	chr3:49054600-49055000	Weak transcription	Brain Hippocampus Middle	brain
38	chr3:49054600-49055000	Enhancers	Fetal Heart	heart
39	chr3:49054600-49055000	Enhancers	Fetal Intestine Large	intestine
40	chr3:49054600-49055000	Enhancers	HSMMtube	muscle
41	chr3:49054600-49055200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr3:49054600-49055200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
43	chr3:49054600-49055200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr3:49054600-49055200	Transcr. at gene 5' and 3'	Fetal Brain Female	brain
45	chr3:49054600-49055200	Flanking Active TSS	GM12878-XiMat	blood
46	chr3:49054600-49055400	Enhancers	Stomach Mucosa	stomach
47	chr3:49054600-49055400	Flanking Active TSS	Hela-S3	cervix
48	chr3:49054600-49055400	Flanking Active TSS	HepG2	liver
49	chr3:49054600-49055600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr3:49054600-49055600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum

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