Variant report

Variant	rs368703848
Chromosome Location	chr1:149815145-149815146
allele	C/T
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	MXI1	chr1:149814984-149816165	SK-N-SH	brain:	n/a	n/a
2	ZBTB33	chr1:149811579-149815152	GM12878	blood:	n/a	n/a
3	MYC	chr1:149815110-149815368	NB4	blood:	n/a	n/a
4	POLR2A	chr1:149808894-149816026	SK-N-SH	brain:	n/a	n/a
5	POLR2A	chr1:149800421-149817942	H1-hESC	embryonic stem cell:	n/a	n/a
6	BCL3	chr1:149814987-149815557	A549	lung:	n/a	chr1:149815137-149815146
7	BCLAF1	chr1:149815050-149815438	GM12878	blood:	n/a	chr1:149815137-149815146
8	POLR2A	chr1:149807697-149816065	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr1:149815059-149815425	GM12878	blood:	n/a	n/a
10	RUNX3	chr1:149814986-149815491	GM12878	blood:	n/a	n/a
11	CHD2	chr1:149815129-149815650	H1-hESC	embryonic stem cell:	n/a	n/a
12	CEBPD	chr1:149815000-149815667	K562	blood:	n/a	n/a
13	BCLAF1	chr1:149814964-149816082	K562	blood:	n/a	chr1:149815137-149815146
14	POLR2A	chr1:149810882-149815663	U87	brain:	n/a	n/a
15	POLR2A	chr1:149808691-149815499	H1-hESC	embryonic stem cell:	n/a	n/a
16	POLR2A	chr1:149815074-149815578	HCT-116	colon:	n/a	n/a
17	POLR2A	chr1:149815131-149815180	HUVEC	blood vessel:	n/a	n/a
18	POLR2A	chr1:149814988-149821817	K562	blood:	n/a	n/a
19	MTA3	chr1:149814954-149815751	GM12878	blood:	n/a	n/a
20	POLR2A	chr1:149809471-149815854	PANC-1	pancreas:	n/a	n/a
21	POLR2A	chr1:149815003-149815531	HUVEC	blood vessel:	n/a	n/a
22	POLR2A	chr1:149810662-149815719	SK-N-MC	brain:	n/a	n/a
23	CHD2	chr1:149815084-149815978	K562	blood:	n/a	n/a
24	POLR2A	chr1:149810702-149815617	GM12891	blood:	n/a	n/a
25	BCLAF1	chr1:149815138-149815473	K562	blood:	n/a	n/a
26	IRF1	chr1:149815120-149815756	K562	blood:	n/a	chr1:149815456-149815472
27	POLR2A	chr1:149810673-149815443	GM12891	blood:	n/a	n/a
28	SIN3AK20	chr1:149810881-149815194	SK-N-SH	brain:	n/a	n/a
29	POLR2A	chr1:149814988-149815677	HCT-116	colon:	n/a	n/a
30	NFIC	chr1:149811025-149815171	GM12878	blood:	n/a	n/a
31	POLR2A	chr1:149815046-149815448	GM12891	blood:	n/a	n/a
32	POLR2A	chr1:149815047-149815661	ECC-1	luminal epithelium:	n/a	n/a
33	CEBPB	chr1:149815005-149816256	HCT-116	colon:	n/a	n/a
34	POLR2A	chr1:149808886-149815713	GM12892	blood:	n/a	n/a
35	POLR2A	chr1:149811156-149815403	HepG2	liver:	n/a	n/a
36	POLR2A	chr1:149815084-149815874	PBDE	blood:	n/a	n/a
37	CHD1	chr1:149815134-149815656	GM12878	blood:	n/a	n/a
38	MXI1	chr1:149815140-149815786	K562	blood:	n/a	n/a
39	POLR2A	chr1:149809847-149815537	GM12892	blood:	n/a	n/a
40	POLR2A	chr1:149814991-149815827	HL-60	blood:	n/a	n/a
41	POLR2A	chr1:149815063-149815526	HCT-116	colon:	n/a	n/a
42	POLR2A	chr1:149815079-149815340	ECC-1	luminal epithelium:	n/a	n/a
43	POLR2A	chr1:149815075-149815629	GM12878	blood:	n/a	n/a
44	SP1	chr1:149810738-149815353	A549	lung:	n/a	chr1:149813372-149813381 chr1:149814368-149814389 chr1:149812854-149812875 chr1:149813142-149813151 chr1:149813141-149813153 chr1:149813143-149813152 chr1:149814406-149814427 chr1:149813371-149813383 chr1:149813142-149813152 chr1:149812935-149812944 chr1:149813141-149813153 chr1:149813210-149813219
45	POLR2A	chr1:149815008-149816012	Hela-S3	cervix:	n/a	n/a
46	POLR2A	chr1:149814991-149821919	K562	blood:	n/a	n/a
47	POLR2A	chr1:149811048-149815758	HepG2	liver:	n/a	n/a
48	POLR2A	chr1:149815066-149815733	HepG2	liver:	n/a	n/a
49	POLR2A	chr1:149810502-149815486	GM12892	blood:	n/a	n/a
50	POLR2A	chr1:149815050-149815659	GM19099	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:149815015..149815766-chr5:42992813..42993512,2	Hela-S3	cervix:
2	chr1:149813687..149823244-chr1:149851297..149861525,76	MCF-7	breast:
3	chr1:149814583..149816442-chr1:150038342..150040815,2	MCF-7	breast:
4	chr1:149813872..149815940-chr6:27838697..27841107,2	MCF-7	breast:
5	chr1:149813928..149823076-chr1:149854513..149862208,33	K562	blood:
6	chr1:149780184..149786348-chr1:149813638..149819174,10	MCF-7	breast:
7	chr1:149814002..149823234-chr1:149906555..149912579,18	MCF-7	breast:
8	chr1:149813697..149823354-chr1:149851773..149862006,115	MCF-7	breast:
9	chr1:149813762..149815954-chr1:150208161..150209740,2	MCF-7	breast:
10	chr1:149813771..149823366-chr1:149853740..149862208,36	K562	blood:
11	chr1:149814920..149815671-chr6:136610415..136611060,2	Hela-S3	cervix:
12	chr1:149813582..149820276-chr1:149898052..149903861,9	MCF-7	breast:

Variant related genes	Relation type
HIST2H2AA3	TF binding region
ENSG00000272993	TF binding region
HIST2H3C	TF binding region
ENSG00000014914	Chromatin interaction
ENSG00000143401	Chromatin interaction
ENSG00000203814	Chromatin interaction
ENSG00000242663	Chromatin interaction
ENSG00000182572	Chromatin interaction
ENSG00000143368	Chromatin interaction
ENSG00000184260	Chromatin interaction
ENSG00000183598	Chromatin interaction
ENSG00000029363	Chromatin interaction
ENSG00000222222	Chromatin interaction
ENSG00000178096	Chromatin interaction
ENSG00000136631	Chromatin interaction
ENSG00000184270	Chromatin interaction
ENSG00000184678	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432820	chr1:148921404-149920927	Bivalent/Poised TSS Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	784 gene(s)	inside rSNPs	diseases
2	esv1806395	chr1:149015282-149849940	Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	425 gene(s)	inside rSNPs	diseases
3	esv1831586	chr1:149036382-149849940	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	425 gene(s)	inside rSNPs	diseases
4	nsv872384	chr1:149211496-149815536	Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	406 gene(s)	inside rSNPs	diseases
5	nsv831503	chr1:149640643-149820841	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
6	nsv469694	chr1:149688852-149836280	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
7	nsv482790	chr1:149688852-149836280	Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
8	nsv831525	chr1:149701537-149878033	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	424 gene(s)	inside rSNPs	diseases
9	nsv946379	chr1:149792977-149815416	Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
10	nsv547843	chr1:149798606-149818466	Weak transcription Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:149814800-149815200	Active TSS	Breast Myoepithelial Primary Cells	Breast
2	chr1:149814800-149815200	Active TSS	Primary monocytes fromperipheralblood	blood
3	chr1:149814800-149815200	Active TSS	Primary B cells from peripheral blood	blood
4	chr1:149814800-149815200	Active TSS	Primary T helper cells PMA-I stimulated	--
5	chr1:149814800-149815200	Active TSS	Primary T regulatory cells fromperipheralblood	blood
6	chr1:149814800-149815200	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr1:149814800-149815200	Active TSS	Cortex derived primary cultured neurospheres	brain
8	chr1:149814800-149815200	Active TSS	Brain Hippocampus Middle	brain
9	chr1:149814800-149815200	Active TSS	Duodenum Mucosa	Duodenum
10	chr1:149814800-149815200	Active TSS	Fetal Intestine Large	intestine
11	chr1:149814800-149815200	Active TSS	Fetal Muscle Leg	muscle
12	chr1:149814800-149815200	Active TSS	Monocytes-CD14+_RO01746	blood
13	chr1:149814800-149815400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr1:149814800-149815600	Active TSS	Brain Germinal Matrix	brain
15	chr1:149814800-149815600	Active TSS	Left Ventricle	heart
16	chr1:149814800-149815800	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
17	chr1:149814800-149816000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr1:149814800-149816000	Active TSS	Primary T helper naive cells fromperipheralblood	blood
19	chr1:149814800-149816000	Active TSS	Fetal Brain Female	brain
20	chr1:149814800-149816000	Active TSS	Hela-S3	cervix
21	chr1:149814800-149816200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr1:149814800-149816200	Active TSS	Fetal Intestine Small	intestine
23	chr1:149814800-149816400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr1:149814800-149816400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr1:149814800-149816400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr1:149814800-149816400	Active TSS	Thymus	Thymus
27	chr1:149814800-149817000	Active TSS	Primary T cells fromperipheralblood	blood
28	chr1:149815000-149815200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr1:149815000-149815200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr1:149815000-149815200	Active TSS	Primary B cells from cord blood	blood
31	chr1:149815000-149815200	Active TSS	Primary T cells from cord blood	blood
32	chr1:149815000-149815200	Active TSS	Primary hematopoietic stem cells	blood
33	chr1:149815000-149815200	Active TSS	Primary T helper naive cells from peripheral blood	blood
34	chr1:149815000-149815200	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
35	chr1:149815000-149815200	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
36	chr1:149815000-149815200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
37	chr1:149815000-149815200	Active TSS	Muscle Satellite Cultured Cells	--
38	chr1:149815000-149815200	Active TSS	Brain Angular Gyrus	brain
39	chr1:149815000-149815200	Active TSS	Brain Anterior Caudate	brain
40	chr1:149815000-149815200	Active TSS	Brain Cingulate Gyrus	brain
41	chr1:149815000-149815200	Active TSS	Brain Inferior Temporal Lobe	brain
42	chr1:149815000-149815200	Active TSS	Brain Substantia Nigra	brain
43	chr1:149815000-149815200	Active TSS	Colon Smooth Muscle	Colon
44	chr1:149815000-149815200	Active TSS	Duodenum Smooth Muscle	Duodenum
45	chr1:149815000-149815200	Active TSS	Fetal Brain Male	brain
46	chr1:149815000-149815200	Active TSS	Fetal Heart	heart
47	chr1:149815000-149815200	Active TSS	Fetal Kidney	kidney
48	chr1:149815000-149815200	Active TSS	Fetal Lung	lung
49	chr1:149815000-149815200	Active TSS	Fetal Stomach	stomach
50	chr1:149815000-149815200	Active TSS	Placenta Amnion	Placenta Amnion

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