Variant report

Variant	rs376668510
Chromosome Location	chr4:119758216-119758217
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:17)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:17 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NRF1	chr4:119756049-119758280	SK-N-SH	brain:	n/a	chr4:119757339-119757348 chr4:119757339-119757350 chr4:119757338-119757349 chr4:119757339-119757353 chr4:119757335-119757344 chr4:119757336-119757350
2	POLR2A	chr4:119756880-119758376	SK-N-MC	brain:	n/a	n/a
3	POLR2A	chr4:119754628-119758338	HepG2	liver:	n/a	n/a
4	POLR2A	chr4:119756112-119758266	HUVEC	blood vessel:	n/a	n/a
5	MAZ	chr4:119755891-119758406	IMR90	lung:	n/a	chr4:119756968-119756978 chr4:119756862-119756872
6	POLR2A	chr4:119756051-119758224	MCF10A-Er-Src	breast:	n/a	n/a
7	GATA2	chr4:119757185-119758251	SH-SY5Y	brain:	n/a	chr4:119757695-119757708
8	MXI1	chr4:119755884-119758441	IMR90	lung:	n/a	n/a
9	MXI1	chr4:119754908-119758409	SK-N-SH	brain:	n/a	n/a
10	POLR2A	chr4:119756100-119758391	H1-hESC	embryonic stem cell:	n/a	n/a
11	GTF2F1	chr4:119757192-119758249	Hela-S3	cervix:	n/a	n/a
12	EP300	chr4:119757173-119758321	K562	blood:	n/a	chr4:119757601-119757615 chr4:119757296-119757312 chr4:119757539-119757555
13	POLR2A	chr4:119755831-119758378	GM12891	blood:	n/a	n/a
14	JUND	chr4:119756122-119758237	K562	blood:	n/a	chr4:119756757-119756766 chr4:119756147-119756156
15	TBP	chr4:119757229-119758216	Hela-S3	cervix:	n/a	n/a
16	POLR2A	chr4:119754539-119758268	IMR90	lung:	n/a	n/a
17	RCOR1	chr4:119757451-119758235	K562	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:119758193-119758243	HEK293	kidney:	embryo
2	chr4:119758193-119758243	T-47D	breast:	n/a
3	chr4:119758193-119758243	HCPEpiC	choroid plexus:	n/a
4	chr4:119758193-119758243	HMEC	breast:	n/a
5	chr4:119758193-119758243	AG04449	skin:	fetal
6	chr4:119758193-119758243	HepG2	liver:	n/a
7	chr4:119758193-119758243	HUVEC	blood vessel:	n/a
8	chr4:119758193-119758243	BJ	skin:	n/a
9	chr4:119758193-119758243	AoSMC	blood vessel:	n/a
10	chr4:119758193-119758243	Jurkat	blood:	n/a
11	chr4:119758193-119758243	CMK	blood:	n/a
12	chr4:119758193-119758243	BE2_C	brain:	n/a
13	chr4:119758193-119758243	HL-60	blood:	n/a
14	chr4:119758193-119758243	HRE	kidney:	n/a
15	chr4:119758193-119758243	SAEC	small airway:	n/a
16	chr4:119758193-119758243	GM12892	blood:	n/a
17	chr4:119758193-119758243	GM12878	blood:	n/a
18	chr4:119758193-119758243	GM06990	blood:	n/a
19	chr4:119758193-119758243	HPAEpiC	pulmonary alveolar:	n/a
20	chr4:119758193-119758243	MCF-7	breast:	n/a
21	chr4:119758193-119758243	IMR90	lung:	fetal
22	chr4:119758193-119758243	HIPEpiC	eye:	n/a
23	chr4:119758193-119758243	PFSK-1	brain:	n/a
24	chr4:119758193-119758243	AG10803	skin:	n/a
25	chr4:119758193-119758243	PrEC	prostate:	n/a
26	chr4:119758193-119758243	MCF10A-Er-Src	breast:	n/a
27	chr4:119758193-119758243	NB4	blood:	n/a
28	chr4:119758193-119758243	NH-A	brain:	n/a
29	chr4:119758193-119758243	Hepatocyte	liver:	n/a
30	chr4:119758193-119758243	HEEpiC	esophagus:	n/a
31	chr4:119758193-119758243	AG04450	lung:	fetal
32	chr4:119758193-119758243	AG09309	skin:	n/a
33	chr4:119758193-119758243	LNCaP	prostate:	n/a
34	chr4:119758193-119758243	ProgFib	skin:	n/a
35	chr4:119758193-119758243	HCM	heart:	n/a
36	chr4:119758193-119758243	HNPCEpiC	eye:	n/a
37	chr4:119758193-119758243	ovcar-3	ovarian:	n/a
38	chr4:119758193-119758243	K562	blood:	n/a
39	chr4:119758193-119758243	H1-hESC	embryonic stem cell:	embryo
40	chr4:119758193-119758243	Caco-2	colon:	n/a
41	chr4:119758193-119758243	NHDF-neo	bronchial:	n/a
42	chr4:119758193-119758243	Hela-S3	cervix:	n/a
43	chr4:119758193-119758243	A549	lung:	n/a
44	chr4:119758193-119758243	NT2-D1	testis:	n/a
45	chr4:119758193-119758243	HRCEpiC	kidney:	n/a
46	chr4:119758193-119758243	HRPEpiC	eye:	n/a
47	chr4:119758193-119758243	SK-N-SH_RA	brain:	n/a
48	chr4:119758193-119758243	AG09319	gingival:	n/a
49	chr4:119758193-119758243	HCF	heart:	n/a
50	chr4:119758193-119758243	NHBE	bronchial:	n/a

No data

Variant related genes	Relation type
SEC24D	TF binding region
SEC24D	CpG island

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv519017	chr4:118828807-119771481	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats 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	39 gene(s)	inside rSNPs	diseases
2	esv3355840	chr4:119296640-119774737	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv516777	chr4:119733366-119762951	Strong transcription Genic enhancers Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv3377040	chr4:119756129-119758677	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	esv3376985	chr4:119757182-119774736	Active TSS Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:119755400-119758400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr4:119755600-119758400	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr4:119755600-119758400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr4:119756000-119758400	Active TSS	HUES6 Cell Line	embryonic stem cell
5	chr4:119756000-119758400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr4:119756200-119758400	Active TSS	HUES64 Cell Line	embryonic stem cell
7	chr4:119756600-119758400	Active TSS	Brain Cingulate Gyrus	brain
8	chr4:119757200-119758600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr4:119757600-119758400	Flanking Active TSS	H1 Cell Line	embryonic stem cell
10	chr4:119757600-119758400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr4:119757600-119758400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr4:119757600-119758400	Flanking Active TSS	Liver	Liver
13	chr4:119757600-119758400	Flanking Active TSS	HUVEC	blood vessel
14	chr4:119757800-119758400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
15	chr4:119757800-119758400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
16	chr4:119757800-119758400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
17	chr4:119757800-119758400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
18	chr4:119757800-119758400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr4:119757800-119758400	Enhancers	Small Intestine	intestine
20	chr4:119757800-119758400	Flanking Active TSS	Hela-S3	cervix
21	chr4:119757800-119758400	Flanking Active TSS	HMEC	breast
22	chr4:119757800-119758400	Flanking Active TSS	NH-A	brain
23	chr4:119757800-119758400	Flanking Active TSS	NHEK	skin
24	chr4:119757800-119758400	Flanking Active TSS	NHLF	lung
25	chr4:119757800-119758400	Flanking Active TSS	Osteobl	bone
26	chr4:119757800-119758600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr4:119758000-119758400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr4:119758000-119758400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr4:119758000-119758400	Enhancers	Fetal Stomach	stomach
30	chr4:119758000-119758400	Weak transcription	Lung	lung
31	chr4:119758000-119758400	Flanking Active TSS	A549	lung
32	chr4:119758000-119758400	Flanking Active TSS	HepG2	liver
33	chr4:119758000-119758400	Flanking Active TSS	NHDF-Ad	bronchial
34	chr4:119758000-119758600	Enhancers	Fetal Brain Female	brain
35	chr4:119758000-119762400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr4:119758000-119764600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr4:119758000-119764600	Weak transcription	Psoas Muscle	Psoas
38	chr4:119758200-119758400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr4:119758200-119758400	Enhancers	Primary T helper cells PMA-I stimulated	--
40	chr4:119758200-119758400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
41	chr4:119758200-119758400	Enhancers	Muscle Satellite Cultured Cells	--
42	chr4:119758200-119758400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr4:119758200-119758400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr4:119758200-119758400	Active TSS	Adipose Nuclei	Adipose
45	chr4:119758200-119758400	Enhancers	Brain Hippocampus Middle	brain
46	chr4:119758200-119758400	Enhancers	Fetal Intestine Small	intestine
47	chr4:119758200-119758400	Enhancers	Fetal Thymus	thymus
48	chr4:119758200-119758400	Enhancers	Skeletal Muscle Male	skeletal muscle
49	chr4:119758200-119758400	Enhancers	GM12878-XiMat	blood
50	chr4:119758200-119758400	Active TSS	Monocytes-CD14+_RO01746	blood

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