Variant report

Variant	rs199920410
Chromosome Location	chr4:102267962-102267963
allele	A/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	chr4:102267755-102269525	SK-N-MC	brain:	n/a	n/a
2	RUNX3	chr4:102267694-102267973	GM12878	blood:	n/a	n/a
3	MAX	chr4:102267621-102270023	A549	lung:	n/a	chr4:102269253-102269263 chr4:102267703-102267712 chr4:102268341-102268350 chr4:102268753-102268763 chr4:102269560-102269569
4	MAZ	chr4:102266360-102270194	IMR90	lung:	n/a	chr4:102269253-102269263 chr4:102267703-102267712 chr4:102267599-102267609 chr4:102267620-102267630 chr4:102268341-102268350 chr4:102268753-102268763 chr4:102269560-102269569
5	RFX5	chr4:102267228-102271139	SK-N-SH	brain:	n/a	chr4:102270678-102270692 chr4:102270677-102270692 chr4:102270681-102270690
6	MAZ	chr4:102267681-102269587	Hela-S3	cervix:	n/a	chr4:102269253-102269263 chr4:102267703-102267712 chr4:102268341-102268350 chr4:102268753-102268763 chr4:102269560-102269569
7	RAD21	chr4:102267764-102269936	IMR90	lung:	n/a	chr4:102269213-102269222 chr4:102268868-102268878 chr4:102268432-102268446
8	TCF12	chr4:102267722-102269694	ECC-1	luminal epithelium:	n/a	chr4:102268440-102268447
9	MXI1	chr4:102266321-102270331	IMR90	lung:	n/a	n/a
10	MYC	chr4:102267711-102269803	MCF10A-Er-Src	breast:	n/a	chr4:102269253-102269263 chr4:102268341-102268350 chr4:102268753-102268763 chr4:102269560-102269569
11	POLR2A	chr4:102266637-102269622	GM19193	blood:	n/a	n/a
12	SIN3AK20	chr4:102267735-102269786	MCF-7	breast:	n/a	n/a
13	POLR2A	chr4:102267734-102268773	ECC-1	luminal epithelium:	n/a	n/a
14	UBTF	chr4:102267795-102269727	K562	blood:	n/a	n/a
15	CHD2	chr4:102267781-102267981	H1-hESC	embryonic stem cell:	n/a	n/a
16	POLR2A	chr4:102267833-102268102	Hela-S3	cervix:	n/a	n/a
17	POLR2A	chr4:102267765-102268017	A549	lung:	n/a	n/a
18	POLR2A	chr4:102267739-102268012	Hela-S3	cervix:	n/a	n/a
19	MAX	chr4:102267728-102268015	K562	blood:	n/a	n/a
20	MAX	chr4:102267649-102270062	MCF-7	breast:	n/a	chr4:102269253-102269263 chr4:102267703-102267712 chr4:102268341-102268350 chr4:102268753-102268763 chr4:102269560-102269569
21	MXI1	chr4:102267798-102267984	Hela-S3	cervix:	n/a	n/a
22	CHD1	chr4:102267832-102268002	H1-hESC	embryonic stem cell:	n/a	n/a
23	ELF1	chr4:102267618-102269994	GM12878	blood:	n/a	chr4:102267800-102267812 chr4:102268192-102268204 chr4:102268455-102268464
24	POLR2A	chr4:102267689-102269553	HUVEC	blood vessel:	n/a	n/a
25	HMGN3	chr4:102267804-102269546	K562	blood:	n/a	n/a
26	POLR2A	chr4:102267699-102269402	GM12878	blood:	n/a	n/a
27	CTCF	chr4:102267820-102267970	AoAF	blood vessel:	n/a	n/a
28	POLR2A	chr4:102267747-102271298	MCF10A-Er-Src	breast:	n/a	n/a
29	POLR2A	chr4:102266493-102269919	H1-neurons	neurons:	n/a	n/a
30	POLR2A	chr4:102266529-102269707	HL-60	blood:	n/a	n/a
31	CEBPB	chr4:102267513-102268017	MCF-7	breast:	n/a	chr4:102267752-102267763 chr4:102267752-102267761 chr4:102267750-102267761
32	MAX	chr4:102267697-102269841	H1-hESC	embryonic stem cell:	n/a	chr4:102269253-102269263 chr4:102267703-102267712 chr4:102268341-102268350 chr4:102268753-102268763 chr4:102269560-102269569
33	CTCF	chr4:102267840-102267990	GM12871	blood:	n/a	n/a
34	POLR2A	chr4:102267498-102269623	GM15510	blood:	n/a	n/a
35	CEBPB	chr4:102267616-102267982	HepG2	liver:	n/a	chr4:102267752-102267763 chr4:102267752-102267761 chr4:102267750-102267761
36	POLR2A	chr4:102267682-102269637	A549	lung:	n/a	n/a
37	CTCF	chr4:102267959-102269653	GM12878	blood:	n/a	n/a
38	SMARCB1	chr4:102267703-102268702	Hela-S3	cervix:	n/a	n/a
39	BHLHE40	chr4:102267821-102267970	K562	blood:	n/a	n/a
40	MYC	chr4:102266376-102269587	NB4	blood:	n/a	chr4:102269253-102269263 chr4:102267703-102267712 chr4:102267599-102267609 chr4:102267620-102267630 chr4:102268341-102268350 chr4:102268753-102268763 chr4:102269560-102269569
41	POLR2A	chr4:102267745-102268070	A549	lung:	n/a	n/a
42	CEBPB	chr4:102267513-102269351	Hela-S3	cervix:	n/a	chr4:102267752-102267763 chr4:102267752-102267761 chr4:102268839-102268847 chr4:102267750-102267761
43	RFX5	chr4:102267795-102268035	Hela-S3	cervix:	n/a	n/a
44	MAX	chr4:102267621-102268495	A549	lung:	n/a	chr4:102267703-102267712 chr4:102268341-102268350
45	CEBPB	chr4:102267606-102268054	A549	lung:	n/a	chr4:102267752-102267763 chr4:102267752-102267761 chr4:102267750-102267761
46	POLR2A	chr4:102267768-102268006	H1-hESC	embryonic stem cell:	n/a	n/a
47	REST	chr4:102267561-102269961	H1-neurons	neurons:	n/a	chr4:102268975-102268988 chr4:102267968-102267977 chr4:102268322-102268336 chr4:102269341-102269350 chr4:102269497-102269507 chr4:102268323-102268341 chr4:102269341-102269354 chr4:102267606-102267619 chr4:102268324-102268334
48	POLR2A	chr4:102267731-102269968	Hela-S3	cervix:	n/a	n/a
49	POLR2A	chr4:102267731-102268023	Hela-S3	cervix:	n/a	n/a
50	CEBPB	chr4:102267523-102268008	ECC-1	luminal epithelium:	n/a	chr4:102267752-102267763 chr4:102267752-102267761 chr4:102267750-102267761

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:100869383..100871934-chr4:102267599..102271042,3	K562	blood:

Variant related genes	Relation type
PPP3CA	TF binding region
ENSG00000254531	TF binding region
ENSG00000164032	Chromatin interaction
ENSG00000245322	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	nsv931418	chr4:101500167-102443207	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv999741	chr4:102009017-102454115	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
3	nsv537199	chr4:102009017-102454115	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1004766	chr4:102009017-102713765	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
5	nsv537200	chr4:102009017-102713765	Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
6	nsv1011351	chr4:102056024-102450302	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
7	nsv879676	chr4:102202285-102340930	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
8	esv3374573	chr4:102266354-102269502	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	esv3413525	chr4:102266529-102269802	Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	esv3408421	chr4:102267454-102270302	Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 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	chr4:102265600-102269800	Active TSS	NHLF	lung
2	chr4:102265800-102269800	Active TSS	Brain Angular Gyrus	brain
3	chr4:102265800-102270000	Active TSS	Fetal Kidney	kidney
4	chr4:102266000-102269000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr4:102266200-102269800	Active TSS	Right Atrium	heart
6	chr4:102266200-102270000	Active TSS	Aorta	Aorta
7	chr4:102266200-102270000	Active TSS	Ovary	ovary
8	chr4:102266400-102268200	Active TSS	Brain Germinal Matrix	brain
9	chr4:102266400-102269600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr4:102266400-102269600	Active TSS	Fetal Stomach	stomach
11	chr4:102266400-102269600	Active TSS	Rectal Mucosa Donor 29	rectum
12	chr4:102266400-102269800	Active TSS	Brain Hippocampus Middle	brain
13	chr4:102266400-102269800	Active TSS	Small Intestine	intestine
14	chr4:102266400-102269800	Active TSS	HSMM	muscle
15	chr4:102266400-102270000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr4:102266400-102270000	Active TSS	Brain Cingulate Gyrus	brain
17	chr4:102266400-102270000	Active TSS	Gastric	stomach
18	chr4:102266400-102270200	Active TSS	Pancreatic Islets	Pancreatic Islet
19	chr4:102266600-102269000	Active TSS	Fetal Muscle Trunk	muscle
20	chr4:102266600-102269600	Active TSS	Brain Inferior Temporal Lobe	brain
21	chr4:102266600-102269600	Active TSS	Colonic Mucosa	Colon
22	chr4:102266600-102269800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr4:102266600-102269800	Active TSS	Colon Smooth Muscle	Colon
24	chr4:102266600-102269800	Active TSS	Lung	lung
25	chr4:102266600-102270000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr4:102266600-102270000	Active TSS	Breast Myoepithelial Primary Cells	Breast
27	chr4:102266600-102270200	Active TSS	ES-I3 Cell Line	embryonic stem cell
28	chr4:102266600-102270200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr4:102266600-102270200	Active TSS	A549	lung
30	chr4:102266600-102270400	Active TSS	Rectal Smooth Muscle	rectum
31	chr4:102266800-102269200	Active TSS	HepG2	liver
32	chr4:102266800-102269600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
33	chr4:102266800-102269600	Active TSS	Cortex derived primary cultured neurospheres	brain
34	chr4:102266800-102269800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr4:102266800-102269800	Active TSS	iPS-15b Cell Line	embryonic stem cell
36	chr4:102266800-102269800	Active TSS	iPS-18 Cell Line	embryonic stem cell
37	chr4:102266800-102269800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr4:102266800-102269800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr4:102266800-102269800	Active TSS	Brain Substantia Nigra	brain
40	chr4:102266800-102269800	Active TSS	Right Ventricle	heart
41	chr4:102266800-102269800	Active TSS	NHEK	skin
42	chr4:102266800-102270000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr4:102266800-102270000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr4:102266800-102270000	Active TSS	H9 Cell Line	embryonic stem cell
45	chr4:102266800-102270000	Active TSS	HUES6 Cell Line	embryonic stem cell
46	chr4:102266800-102270000	Active TSS	HUES64 Cell Line	embryonic stem cell
47	chr4:102266800-102270000	Active TSS	Brain Anterior Caudate	brain
48	chr4:102266800-102270000	Active TSS	Fetal Brain Female	brain
49	chr4:102266800-102270200	Active TSS	H1 Cell Line	embryonic stem cell
50	chr4:102266800-102270200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain

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