Variant report

Variant	rs151003537
Chromosome Location	chr3:49054217-49054218
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:86)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:86 , 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	POLR2A	chr3:49050113-49067296	HepG2	liver:	n/a	n/a
3	POLR2A	chr3:49053148-49056378	GM12878	blood:	n/a	n/a
4	POLR2A	chr3:49052980-49056417	HL-60	blood:	n/a	n/a
5	POLR2A	chr3:49051503-49056616	SK-N-SH	brain:	n/a	n/a
6	FOSL2	chr3:49053810-49054331	HepG2	liver:	n/a	n/a
7	POLR2A	chr3:49052474-49059791	PANC-1	pancreas:	n/a	n/a
8	POLR2A	chr3:49053662-49056450	U87	brain:	n/a	n/a
9	POLR2A	chr3:49049681-49055610	GM12891	blood:	n/a	n/a
10	PBX3	chr3:49053536-49056625	SK-N-SH	brain:	n/a	n/a
11	POLR2A	chr3:49048502-49056486	GM12878	blood:	n/a	n/a
12	POLR2A	chr3:49048842-49056486	H1-hESC	embryonic stem cell:	n/a	n/a
13	POLR2A	chr3:49053519-49054625	K562	blood:	n/a	n/a
14	POLR2A	chr3:49048845-49056419	GM12891	blood:	n/a	n/a
15	POLR2A	chr3:49052548-49056350	K562	blood:	n/a	n/a
16	POLR2A	chr3:49051566-49056520	GM12878	blood:	n/a	n/a
17	POLR2A	chr3:49053310-49054282	HUVEC	blood vessel:	n/a	n/a
18	CTCF	chr3:49054180-49054330	HepG2	liver:	n/a	n/a
19	POLR2A	chr3:49053216-49054717	NB4	blood:	n/a	n/a
20	POLR2A	chr3:49053799-49054343	H1-hESC	embryonic stem cell:	n/a	n/a
21	POLR2A	chr3:49051954-49056421	H1-hESC	embryonic stem cell:	n/a	n/a
22	BCL3	chr3:49053621-49054753	A549	lung:	n/a	n/a
23	POLR2A	chr3:49053617-49056538	U87	brain:	n/a	n/a
24	POLR2A	chr3:49051952-49055393	GM12892	blood:	n/a	n/a
25	POLR2A	chr3:49052566-49055998	A549	lung:	n/a	n/a
26	POLR2A	chr3:49053041-49054590	GM12891	blood:	n/a	n/a
27	POLR2A	chr3:49050908-49056374	ECC-1	luminal epithelium:	n/a	n/a
28	POLR2A	chr3:49052097-49056367	H1-neurons	neurons:	n/a	n/a
29	POLR2A	chr3:49052736-49056323	Hela-S3	cervix:	n/a	n/a
30	POLR2A	chr3:49048918-49055399	GM12892	blood:	n/a	n/a
31	POLR2A	chr3:49053331-49056321	HUVEC	blood vessel:	n/a	n/a
32	POU2F2	chr3:49053810-49054594	GM12891	blood:	n/a	n/a
33	POLR2A	chr3:49053083-49054397	K562	blood:	n/a	n/a
34	POLR2A	chr3:49053819-49054764	GM19193	blood:	n/a	n/a
35	POLR2A	chr3:49053369-49054579	HepG2	liver:	n/a	n/a
36	POU2F2	chr3:49054170-49054321	GM12878	blood:	n/a	n/a
37	POLR2A	chr3:49048783-49056505	GM12892	blood:	n/a	n/a
38	POLR2A	chr3:49054163-49056367	Hela-S3	cervix:	n/a	n/a
39	POLR2A	chr3:49052798-49054881	SK-N-SH	brain:	n/a	n/a
40	MTA3	chr3:49053209-49056613	GM12878	blood:	n/a	n/a
41	POLR2A	chr3:49048897-49056290	GM12891	blood:	n/a	n/a
42	POLR2A	chr3:49051541-49056898	K562	blood:	n/a	n/a
43	POLR2A	chr3:49053209-49056861	GM12891	blood:	n/a	n/a
44	POLR2A	chr3:49053973-49054252	A549	lung:	n/a	n/a
45	POLR2A	chr3:49052889-49056613	HCT-116	colon:	n/a	n/a
46	POU2F2	chr3:49053765-49054803	GM12891	blood:	n/a	n/a
47	POLR2A	chr3:49052846-49056620	K562	blood:	n/a	n/a
48	POLR2A	chr3:49053880-49054871	Hela-S3	cervix:	n/a	n/a
49	PML	chr3:49052717-49056611	GM12878	blood:	n/a	n/a
50	POLR2A	chr3:49052988-49056596	ECC-1	luminal epithelium:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:49052737..49055601-chr3:49169653..49171785,2	MCF-7	breast:
2	chr14:105265057..105267677-chr3:49054198..49056753,2	MCF-7	breast:
3	chr3:49052218..49068794-chr3:49126865..49133927,44	K562	blood:
4	chr3:49050440..49054790-chr3:49130798..49133846,4	MCF-7	breast:

No data

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

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 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

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	chr3:49046200-49054400	Strong transcription	Fetal Stomach	stomach
3	chr3:49046200-49054600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr3:49046200-49054600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr3:49046200-49054800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr3:49046800-49054400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr3:49047600-49054800	Strong transcription	Lung	lung
8	chr3:49048400-49054400	Strong transcription	Fetal Intestine Large	intestine
9	chr3:49048400-49054600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr3:49048600-49054400	Strong transcription	Thymus	Thymus
11	chr3:49048800-49054400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr3:49048800-49054400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr3:49048800-49054400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr3:49048800-49054400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr3:49048800-49054600	Strong transcription	Fetal Brain Female	brain
16	chr3:49048800-49054600	Strong transcription	Rectal Mucosa Donor 29	rectum
17	chr3:49048800-49054800	Strong transcription	Brain Cingulate Gyrus	brain
18	chr3:49049000-49054400	Strong transcription	Adipose Nuclei	Adipose
19	chr3:49049000-49054400	Strong transcription	Liver	Liver
20	chr3:49049000-49054400	Strong transcription	Brain Angular Gyrus	brain
21	chr3:49049000-49054400	Strong transcription	HepG2	liver
22	chr3:49049000-49054400	Strong transcription	NHLF	lung
23	chr3:49049000-49054600	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr3:49049000-49054600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr3:49049000-49054600	Strong transcription	Brain Anterior Caudate	brain
26	chr3:49049000-49054600	Strong transcription	Brain Hippocampus Middle	brain
27	chr3:49049000-49054600	Strong transcription	Brain Inferior Temporal Lobe	brain
28	chr3:49049000-49054600	Strong transcription	Rectal Smooth Muscle	rectum
29	chr3:49049000-49054600	Strong transcription	Osteobl	bone
30	chr3:49049200-49054400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr3:49049200-49054400	Strong transcription	Colon Smooth Muscle	Colon
32	chr3:49049200-49054400	Strong transcription	GM12878-XiMat	blood
33	chr3:49049200-49054800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr3:49049200-49054800	Strong transcription	Fetal Lung	lung
35	chr3:49050000-49054400	Strong transcription	Brain Germinal Matrix	brain
36	chr3:49050400-49054800	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr3:49050800-49054400	Strong transcription	NHDF-Ad	bronchial
38	chr3:49050800-49054600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr3:49051000-49054400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
40	chr3:49051200-49054400	Strong transcription	Hela-S3	cervix
41	chr3:49051200-49054600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr3:49051200-49054600	Strong transcription	Right Ventricle	heart
43	chr3:49051200-49054800	Weak transcription	Psoas Muscle	Psoas
44	chr3:49051400-49054400	Strong transcription	Duodenum Mucosa	Duodenum
45	chr3:49051400-49054400	Strong transcription	Stomach Mucosa	stomach
46	chr3:49051400-49055000	Weak transcription	Right Atrium	heart
47	chr3:49051600-49054400	Strong transcription	HSMMtube	muscle
48	chr3:49051600-49054400	Strong transcription	NHEK	skin
49	chr3:49051600-49054600	Strong transcription	Placenta	Placenta
50	chr3:49051600-49054600	Strong transcription	HSMM	muscle

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