Variant report

Variant	rs3738319
Chromosome Location	chr1:149815323-149815324
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:112)
CpG islands
(count:61)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:112 , 50 per page) page: 1 2 3

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	MYC	chr1:149815110-149815368	NB4	blood:	n/a	n/a
3	POLR2A	chr1:149808894-149816026	SK-N-SH	brain:	n/a	n/a
4	POLR2A	chr1:149800421-149817942	H1-hESC	embryonic stem cell:	n/a	n/a
5	MAX	chr1:149815210-149815411	NB4	blood:	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	MYC	chr1:149815284-149816086	MCF10A-Er-Src	breast:	n/a	n/a
11	RUNX3	chr1:149814986-149815491	GM12878	blood:	n/a	n/a
12	CHD2	chr1:149815129-149815650	H1-hESC	embryonic stem cell:	n/a	n/a
13	CEBPD	chr1:149815000-149815667	K562	blood:	n/a	n/a
14	BCLAF1	chr1:149814964-149816082	K562	blood:	n/a	chr1:149815137-149815146
15	POLR2A	chr1:149810882-149815663	U87	brain:	n/a	n/a
16	POLR2A	chr1:149808691-149815499	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chr1:149815074-149815578	HCT-116	colon:	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	PBX3	chr1:149815290-149816023	SK-N-SH	brain:	n/a	n/a
21	POLR2A	chr1:149809471-149815854	PANC-1	pancreas:	n/a	n/a
22	POLR2A	chr1:149815003-149815531	HUVEC	blood vessel:	n/a	n/a
23	ARID3A	chr1:149815317-149816108	HepG2	liver:	n/a	n/a
24	POLR2A	chr1:149810662-149815719	SK-N-MC	brain:	n/a	n/a
25	CHD2	chr1:149815084-149815978	K562	blood:	n/a	n/a
26	POLR2A	chr1:149810702-149815617	GM12891	blood:	n/a	n/a
27	BCLAF1	chr1:149815138-149815473	K562	blood:	n/a	n/a
28	BRCA1	chr1:149815235-149815394	GM12878	blood:	n/a	n/a
29	IRF1	chr1:149815120-149815756	K562	blood:	n/a	chr1:149815456-149815472
30	POLR2A	chr1:149810673-149815443	GM12891	blood:	n/a	n/a
31	POLR2A	chr1:149814988-149815677	HCT-116	colon:	n/a	n/a
32	POLR2A	chr1:149815046-149815448	GM12891	blood:	n/a	n/a
33	TAF1	chr1:149815190-149815402	K562	blood:	n/a	n/a
34	POLR2A	chr1:149815047-149815661	ECC-1	luminal epithelium:	n/a	n/a
35	CEBPB	chr1:149815005-149816256	HCT-116	colon:	n/a	n/a
36	POLR2A	chr1:149808886-149815713	GM12892	blood:	n/a	n/a
37	POLR2A	chr1:149811156-149815403	HepG2	liver:	n/a	n/a
38	POLR2A	chr1:149815084-149815874	PBDE	blood:	n/a	n/a
39	CHD1	chr1:149815134-149815656	GM12878	blood:	n/a	n/a
40	MXI1	chr1:149815140-149815786	K562	blood:	n/a	n/a
41	POLR2A	chr1:149809847-149815537	GM12892	blood:	n/a	n/a
42	POLR2A	chr1:149814991-149815827	HL-60	blood:	n/a	n/a
43	POLR2A	chr1:149815063-149815526	HCT-116	colon:	n/a	n/a
44	POLR2A	chr1:149815079-149815340	ECC-1	luminal epithelium:	n/a	n/a
45	POLR2A	chr1:149815075-149815629	GM12878	blood:	n/a	n/a
46	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
47	POLR2A	chr1:149815008-149816012	Hela-S3	cervix:	n/a	n/a
48	POLR2A	chr1:149814991-149821919	K562	blood:	n/a	n/a
49	POLR2A	chr1:149811048-149815758	HepG2	liver:	n/a	n/a
50	POLR2A	chr1:149815066-149815733	HepG2	liver:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:149815294-149815344	HRCEpiC	kidney:	n/a
2	chr1:149815294-149815344	NHDF-neo	bronchial:	n/a
3	chr1:149815294-149815344	AG04450	lung:	fetal
4	chr1:149815294-149815344	LNCaP	prostate:	n/a
5	chr1:149815294-149815344	AG10803	skin:	n/a
6	chr1:149815294-149815344	HRE	kidney:	n/a
7	chr1:149815294-149815344	U87	brain:	n/a
8	chr1:149815294-149815344	HUVEC	blood vessel:	n/a
9	chr1:149815294-149815344	AG04449	skin:	fetal
10	chr1:149815294-149815344	HEEpiC	esophagus:	n/a
11	chr1:149815294-149815344	K562	blood:	n/a
12	chr1:149815294-149815344	HepG2	liver:	n/a
13	chr1:149815294-149815344	HCM	heart:	n/a
14	chr1:149815294-149815344	HMEC	breast:	n/a
15	chr1:149815294-149815344	HCF	heart:	n/a
16	chr1:149815294-149815344	SAEC	small airway:	n/a
17	chr1:149815294-149815344	Jurkat	blood:	n/a
18	chr1:149815294-149815344	NH-A	brain:	n/a
19	chr1:149815294-149815344	HIPEpiC	eye:	n/a
20	chr1:149815294-149815344	HPAEpiC	pulmonary alveolar:	n/a
21	chr1:149815294-149815344	RPTEC	kidney:	n/a
22	chr1:149815294-149815344	HCT-116	colon:	n/a
23	chr1:149815294-149815344	GM12878	blood:	n/a
24	chr1:149815294-149815344	HAEpiC	amniotic membrane:	n/a
25	chr1:149815294-149815344	BE2_C	brain:	n/a
26	chr1:149815294-149815344	BJ	skin:	n/a
27	chr1:149815294-149815344	NT2-D1	testis:	n/a
28	chr1:149815294-149815344	HNPCEpiC	eye:	n/a
29	chr1:149815294-149815344	AoSMC	blood vessel:	n/a
30	chr1:149815294-149815344	HRPEpiC	eye:	n/a
31	chr1:149815294-149815344	HEK293	kidney:	embryo
32	chr1:149815294-149815344	HCPEpiC	choroid plexus:	n/a
33	chr1:149815294-149815344	A549	lung:	n/a
34	chr1:149815294-149815344	ProgFib	skin:	n/a
35	chr1:149815294-149815344	H1-hESC	embryonic stem cell:	embryo
36	chr1:149815294-149815344	GM12891	blood:	n/a
37	chr1:149815294-149815344	ECC-1	luminal epithelium:	n/a
38	chr1:149815294-149815344	CMK	blood:	n/a
39	chr1:149815294-149815344	NHBE	bronchial:	n/a
40	chr1:149815294-149815344	T-47D	breast:	n/a
41	chr1:149815294-149815344	NB4	blood:	n/a
42	chr1:149815294-149815344	Hepatocyte	liver:	n/a
43	chr1:149815294-149815344	GM12892	blood:	n/a
44	chr1:149815294-149815344	AG09319	gingival:	n/a
45	chr1:149815294-149815344	SKMC	muscle:	n/a
46	chr1:149815294-149815344	GM19239	blood:	n/a
47	chr1:149815294-149815344	Caco-2	colon:	n/a
48	chr1:149815294-149815344	MCF-7	breast:	n/a
49	chr1:149815294-149815344	SK-N-MC	brain:	n/a
50	chr1:149815294-149815344	SK-N-SH_RA	brain:	n/a

(count:13 , 50 per page) page: 1

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	chr1:149815281..149817675-chr1:149980545..149983333,2	K562	blood:
7	chr1:149780184..149786348-chr1:149813638..149819174,10	MCF-7	breast:
8	chr1:149814002..149823234-chr1:149906555..149912579,18	MCF-7	breast:
9	chr1:149813697..149823354-chr1:149851773..149862006,115	MCF-7	breast:
10	chr1:149813762..149815954-chr1:150208161..150209740,2	MCF-7	breast:
11	chr1:149813771..149823366-chr1:149853740..149862208,36	K562	blood:
12	chr1:149814920..149815671-chr6:136610415..136611060,2	Hela-S3	cervix:
13	chr1:149813582..149820276-chr1:149898052..149903861,9	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000272993	TF binding region
HIST2H3C	TF binding region
HIST2H2AA3	TF binding region
HIST2H2AA3	CpG island
HIST2H3C	CpG island
ENSG00000272993	CpG island
ENSG00000183598	Chromatin interaction
ENSG00000242663	Chromatin interaction
ENSG00000163113	Chromatin interaction
ENSG00000184678	Chromatin interaction
ENSG00000184260	Chromatin interaction
ENSG00000143401	Chromatin interaction
ENSG00000203814	Chromatin interaction
ENSG00000014914	Chromatin interaction
ENSG00000184270	Chromatin interaction
ENSG00000182572	Chromatin interaction
ENSG00000029363	Chromatin interaction
ENSG00000178096	Chromatin interaction
ENSG00000222222	Chromatin interaction
ENSG00000136631	Chromatin interaction
ENSG00000143368	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	chr1:149814800-149815400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr1:149814800-149815600	Active TSS	Brain Germinal Matrix	brain
3	chr1:149814800-149815600	Active TSS	Left Ventricle	heart
4	chr1:149814800-149815800	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
5	chr1:149814800-149816000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr1:149814800-149816000	Active TSS	Primary T helper naive cells fromperipheralblood	blood
7	chr1:149814800-149816000	Active TSS	Fetal Brain Female	brain
8	chr1:149814800-149816000	Active TSS	Hela-S3	cervix
9	chr1:149814800-149816200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr1:149814800-149816200	Active TSS	Fetal Intestine Small	intestine
11	chr1:149814800-149816400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr1:149814800-149816400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr1:149814800-149816400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr1:149814800-149816400	Active TSS	Thymus	Thymus
15	chr1:149814800-149817000	Active TSS	Primary T cells fromperipheralblood	blood
16	chr1:149815000-149815400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr1:149815000-149815400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr1:149815000-149815400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr1:149815000-149815400	Active TSS	Primary hematopoietic stem cells short term culture	blood
20	chr1:149815000-149815400	Active TSS	Primary T killer memory cells from peripheral blood	blood
21	chr1:149815000-149815400	Active TSS	Gastric	stomach
22	chr1:149815000-149815400	Active TSS	Lung	lung
23	chr1:149815000-149815400	Active TSS	Pancreas	Pancrea
24	chr1:149815000-149815400	Flanking Active TSS	Right Atrium	heart
25	chr1:149815000-149815400	Active TSS	Small Intestine	intestine
26	chr1:149815000-149815400	Active TSS	NHDF-Ad	bronchial
27	chr1:149815000-149815600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr1:149815000-149815600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
29	chr1:149815000-149815600	Flanking Active TSS	Adipose Nuclei	Adipose
30	chr1:149815000-149815600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
31	chr1:149815000-149815600	Active TSS	Colonic Mucosa	Colon
32	chr1:149815000-149815600	Active TSS	Esophagus	oesophagus
33	chr1:149815000-149815600	Active TSS	Fetal Muscle Trunk	muscle
34	chr1:149815000-149815600	Flanking Active TSS	Placenta	Placenta
35	chr1:149815000-149815600	Active TSS	Ovary	ovary
36	chr1:149815000-149815600	Active TSS	Psoas Muscle	Psoas
37	chr1:149815000-149815600	Flanking Active TSS	Rectal Smooth Muscle	rectum
38	chr1:149815000-149815600	Active TSS	Sigmoid Colon	Sigmoid Colon
39	chr1:149815000-149815600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
40	chr1:149815000-149815600	Active TSS	HSMM	muscle
41	chr1:149815000-149815800	Flanking Active TSS	Liver	Liver
42	chr1:149815000-149815800	Active TSS	HSMMtube	muscle
43	chr1:149815000-149816000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr1:149815000-149816000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
45	chr1:149815000-149816000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr1:149815000-149816000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
47	chr1:149815000-149816000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
48	chr1:149815000-149816000	Active TSS	Right Ventricle	heart
49	chr1:149815000-149816000	Active TSS	HMEC	breast
50	chr1:149815000-149816200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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