Variant report

Variant	rs529117814
Chromosome Location	chr3:119013024-119013025
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr3:119012900-119013123	A549	lung:	n/a	n/a
2	CHD2	chr3:119012557-119014238	GM12878	blood:	n/a	chr3:119013345-119013355 chr3:119012917-119012927
3	MAZ	chr3:119012950-119013177	K562	blood:	n/a	n/a
4	BRCA1	chr3:119012870-119013405	GM12878	blood:	n/a	n/a
5	POLR2A	chr3:119012596-119014282	GM18505	blood:	n/a	n/a
6	TBP	chr3:119012625-119013616	GM12878	blood:	n/a	n/a
7	SP1	chr3:119012565-119013687	GM12878	blood:	n/a	chr3:119013148-119013162
8	EBF1	chr3:119012567-119013620	GM12878	blood:	n/a	n/a
9	POLR2A	chr3:119012499-119014302	GM12892	blood:	n/a	n/a
10	CHD1	chr3:119012717-119013297	GM12878	blood:	n/a	chr3:119012917-119012927
11	MAX	chr3:119012753-119014079	A549	lung:	n/a	chr3:119013875-119013885
12	EP300	chr3:119012928-119013291	SK-N-SH_RA	brain:	n/a	chr3:119012940-119012956
13	POLR2A	chr3:119012789-119013933	HUVEC	blood vessel:	n/a	n/a
14	POLR2A	chr3:119012591-119013716	GM12891	blood:	n/a	n/a
15	RCOR1	chr3:119012486-119014032	GM12878	blood:	n/a	n/a
16	RUNX3	chr3:119012385-119013728	GM12878	blood:	n/a	n/a
17	CHD2	chr3:119012751-119013125	Hela-S3	cervix:	n/a	chr3:119012917-119012927
18	POLR2A	chr3:119012866-119013542	U87	brain:	n/a	n/a
19	ZNF263	chr3:119012561-119014293	HEK293-T-REx	kidney:	n/a	chr3:119012916-119012925 chr3:119014190-119014199
20	SIN3AK20	chr3:119012638-119013908	PANC-1	pancreas:	n/a	n/a
21	POLR2A	chr3:119012480-119014338	GM12892	blood:	n/a	n/a
22	TAF1	chr3:119012804-119013201	GM12878	blood:	n/a	n/a
23	POLR2A	chr3:119012549-119014275	GM18526	blood:	n/a	n/a
24	POLR2A	chr3:119012526-119014245	GM19099	blood:	n/a	n/a
25	MEF2C	chr3:119012492-119013099	GM12878	blood:	n/a	n/a
26	SIN3AK20	chr3:119012629-119013364	SK-N-SH	brain:	n/a	n/a
27	GABPA	chr3:119012768-119013390	SK-N-SH	brain:	n/a	n/a
28	NRF1	chr3:119012785-119013065	GM12878	blood:	n/a	n/a
29	RAD21	chr3:119012436-119013312	SK-N-SH_RA	brain:	n/a	n/a
30	MYC	chr3:119012935-119013308	HUVEC	blood vessel:	n/a	n/a
31	MAX	chr3:119012947-119013180	K562	blood:	n/a	n/a
32	POLR2A	chr3:119012614-119014275	GM12892	blood:	n/a	n/a
33	CHD2	chr3:119012802-119013218	H1-hESC	embryonic stem cell:	n/a	chr3:119012917-119012927
34	ZNF384	chr3:119012887-119013079	GM12878	blood:	n/a	n/a
35	GABPA	chr3:119012845-119013357	A549	lung:	n/a	n/a
36	TCF7L2	chr3:119012472-119013282	Hela-S3	cervix:	n/a	chr3:119012928-119012937 chr3:119012925-119012939
37	EP300	chr3:119012596-119013034	GM12878	blood:	n/a	chr3:119012940-119012956
38	TBL1XR1	chr3:119012552-119013629	GM12878	blood:	n/a	n/a
39	SIN3A	chr3:119012516-119014221	H1-hESC	embryonic stem cell:	n/a	n/a
40	POU2F2	chr3:119012508-119014271	GM12878	blood:	n/a	chr3:119013874-119013886 chr3:119012565-119012578 chr3:119012565-119012578
41	ZBTB7A	chr3:119012927-119013793	ECC-1	luminal epithelium:	n/a	chr3:119013605-119013613
42	POLR2A	chr3:119012706-119013563	GM12891	blood:	n/a	n/a
43	STAT5A	chr3:119012900-119013735	GM12878	blood:	n/a	n/a
44	ELF1	chr3:119012784-119013106	K562	blood:	n/a	chr3:119012948-119012961
45	POLR2A	chr3:119012511-119013544	SK-N-SH	brain:	n/a	n/a
46	IKZF1	chr3:119012598-119013535	GM12878	blood:	n/a	n/a
47	POLR2A	chr3:119012852-119013288	MCF10A-Er-Src	breast:	n/a	n/a
48	RELA	chr3:119012499-119014254	GM18951	blood:	n/a	n/a
49	SPI1	chr3:119012989-119013744	HL-60	blood:	n/a	chr3:119013097-119013104 chr3:119013479-119013488 chr3:119013386-119013399 chr3:119013149-119013162
50	SIN3AK20	chr3:119012935-119013260	PFSK-1	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:119011699..119014378-chr3:119015999..119019083,3	MCF-7	breast:
2	chr3:119012312..119014941-chr3:119040203..119043471,4	MCF-7	breast:
3	chr3:119011961..119014558-chr3:119015081..119019200,4	MCF-7	breast:
4	chr3:119011662..119015799-chr3:119040784..119043293,4	MCF-7	breast:

Variant related genes	Relation type
ARHGAP31	TF binding region
RPS26P21	TF binding region
ENSG00000241155	Chromatin interaction
ENSG00000242829	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	esv3487859	chr3:118570588-119419623	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	esv3487860	chr3:118570588-119419623	Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	nsv829694	chr3:119011488-119153579	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:119011800-119014000	Flanking Bivalent TSS/Enh	Dnd41	blood
2	chr3:119012200-119014200	Flanking Active TSS	Primary B cells from cord blood	blood
3	chr3:119012200-119014400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr3:119012200-119014800	Active TSS	NHDF-Ad	bronchial
5	chr3:119012200-119015000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr3:119012200-119015600	Active TSS	Fetal Muscle Trunk	muscle
7	chr3:119012400-119013200	Flanking Active TSS	Fetal Brain Male	brain
8	chr3:119012400-119013400	Flanking Active TSS	Primary hematopoietic stem cells	blood
9	chr3:119012400-119013400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr3:119012400-119013400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr3:119012400-119013400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
12	chr3:119012400-119013800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr3:119012400-119013800	Active TSS	Brain Angular Gyrus	brain
14	chr3:119012400-119013800	Active TSS	Brain Germinal Matrix	brain
15	chr3:119012400-119014200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
16	chr3:119012400-119014400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr3:119012400-119014400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
18	chr3:119012400-119014400	Active TSS	Sigmoid Colon	Sigmoid Colon
19	chr3:119012400-119014600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr3:119012400-119014800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
21	chr3:119012400-119014800	Active TSS	Brain Anterior Caudate	brain
22	chr3:119012400-119014800	Active TSS	Fetal Kidney	kidney
23	chr3:119012400-119015000	Active TSS	Aorta	Aorta
24	chr3:119012400-119015200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr3:119012400-119015200	Active TSS	Breast Myoepithelial Primary Cells	Breast
26	chr3:119012400-119015200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr3:119012400-119015200	Active TSS	NHLF	lung
28	chr3:119012400-119015400	Active TSS	Fetal Intestine Small	intestine
29	chr3:119012400-119015600	Active TSS	Psoas Muscle	Psoas
30	chr3:119012400-119015800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
31	chr3:119012400-119015800	Active TSS	Rectal Smooth Muscle	rectum
32	chr3:119012400-119016000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr3:119012400-119016000	Active TSS	Brain Cingulate Gyrus	brain
34	chr3:119012400-119016200	Active TSS	Duodenum Smooth Muscle	Duodenum
35	chr3:119012400-119016200	Active TSS	Left Ventricle	heart
36	chr3:119012400-119016200	Active TSS	Right Ventricle	heart
37	chr3:119012600-119013400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
38	chr3:119012600-119013400	Flanking Bivalent TSS/Enh	HepG2	liver
39	chr3:119012600-119013600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr3:119012600-119013800	Active TSS	Primary T helper naive cells fromperipheralblood	blood
41	chr3:119012600-119013800	Active TSS	Primary T killer memory cells from peripheral blood	blood
42	chr3:119012600-119013800	Flanking Active TSS	Liver	Liver
43	chr3:119012600-119014000	Active TSS	Primary T cells from cord blood	blood
44	chr3:119012600-119014000	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
45	chr3:119012600-119014000	Active TSS	Primary T killer naive cells fromperipheralblood	blood
46	chr3:119012600-119014200	Active TSS	Gastric	stomach
47	chr3:119012600-119014200	Active TSS	Pancreas	Pancrea
48	chr3:119012600-119014200	Active TSS	Placenta Amnion	Placenta Amnion
49	chr3:119012600-119014200	Active TSS	Small Intestine	intestine
50	chr3:119012600-119014400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell

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