Variant report

Variant	rs555909499
Chromosome Location	chr4:102267205-102267206
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	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
2	MXI1	chr4:102266321-102270331	IMR90	lung:	n/a	n/a
3	POLR2A	chr4:102266637-102269622	GM19193	blood:	n/a	n/a
4	RELA	chr4:102266534-102267313	GM19193	blood:	n/a	chr4:102267170-102267179 chr4:102267170-102267179
5	ZBTB33	chr4:102267016-102267611	SK-N-SH	brain:	n/a	chr4:102267312-102267327
6	RELA	chr4:102266449-102267236	GM18951	blood:	n/a	chr4:102267170-102267179 chr4:102267170-102267179
7	CHD2	chr4:102266812-102267355	H1-hESC	embryonic stem cell:	n/a	n/a
8	RAD21	chr4:102266415-102267545	IMR90	lung:	n/a	n/a
9	POLR2A	chr4:102266983-102267227	Gliobla	brain:	n/a	n/a
10	RUNX3	chr4:102266416-102267326	GM12878	blood:	n/a	n/a
11	RELA	chr4:102266933-102267439	GM19099	blood:	n/a	chr4:102267170-102267179 chr4:102267170-102267179
12	TCF12	chr4:102266274-102267227	SK-N-SH	brain:	n/a	n/a
13	POLR2A	chr4:102266493-102269919	H1-neurons	neurons:	n/a	n/a
14	POLR2A	chr4:102266529-102269707	HL-60	blood:	n/a	n/a
15	BHLHE40	chr4:102266870-102267476	GM12878	blood:	n/a	n/a
16	CTCF	chr4:102267080-102267230	GM12870	blood:	n/a	n/a
17	GATA3	chr4:102266265-102267525	SK-N-SH	brain:	n/a	chr4:102266408-102266417
18	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
19	EBF1	chr4:102266921-102267218	GM12878	blood:	n/a	n/a
20	EGR1	chr4:102267179-102267359	GM12878	blood:	n/a	chr4:102267220-102267230 chr4:102267293-102267306 chr4:102267255-102267269 chr4:102267291-102267301 chr4:102267229-102267239
21	ZNF263	chr4:102266461-102267216	HEK293-T-REx	kidney:	n/a	chr4:102266879-102266900
22	REST	chr4:102266314-102267404	H1-neurons	neurons:	n/a	chr4:102266678-102266691 chr4:102266678-102266691 chr4:102266676-102266686
23	SPI1	chr4:102267075-102267725	HL-60	blood:	n/a	chr4:102267544-102267557
24	POLR2A	chr4:102266992-102269753	GM19099	blood:	n/a	n/a
25	MXI1	chr4:102265923-102271471	SK-N-SH	brain:	n/a	n/a
26	CHD2	chr4:102266540-102269492	GM12878	blood:	n/a	n/a
27	SIN3AK20	chr4:102266789-102267237	SK-N-SH	brain:	n/a	n/a
28	MXI1	chr4:102266782-102269552	HepG2	liver:	n/a	n/a
29	EP300	chr4:102267123-102267431	SK-N-SH_RA	brain:	n/a	n/a
30	SIN3AK20	chr4:102266799-102267243	H1-hESC	embryonic stem cell:	n/a	n/a
31	ZBTB33	chr4:102267201-102267494	A549	lung:	n/a	chr4:102267312-102267327
32	MAX	chr4:102266372-102270125	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
33	MAZ	chr4:102266847-102267566	GM12878	blood:	n/a	n/a
34	EGR1	chr4:102267071-102267331	GM12878	blood:	n/a	chr4:102267220-102267230 chr4:102267293-102267306 chr4:102267255-102267269 chr4:102267291-102267301 chr4:102267229-102267239
35	POLR2A	chr4:102266467-102270028	H1-neurons	neurons:	n/a	n/a
36	MAX	chr4:102266623-102267352	A549	lung:	n/a	n/a
37	POLR2A	chr4:102266509-102269778	HepG2	liver:	n/a	n/a
38	CTCF	chr4:102267060-102267290	GM12868	blood:	n/a	chr4:102267222-102267235
39	POLR2A	chr4:102266673-102269911	Raji	blood:	n/a	n/a
40	RAD21	chr4:102266335-102267229	SK-N-SH_RA	brain:	n/a	n/a
41	CHD2	chr4:102266600-102267961	HepG2	liver:	n/a	n/a
42	EGR1	chr4:102267150-102267448	K562	blood:	n/a	chr4:102267220-102267230 chr4:102267293-102267306 chr4:102267255-102267269 chr4:102267291-102267301 chr4:102267229-102267239
43	POLR2A	chr4:102266685-102269628	GM18951	blood:	n/a	n/a
44	CHD2	chr4:102267025-102267486	K562	blood:	n/a	n/a
45	ZBTB33	chr4:102267017-102267608	SK-N-SH	brain:	n/a	chr4:102267312-102267327
46	POLR2A	chr4:102266975-102269582	GM12878	blood:	n/a	n/a
47	BACH1	chr4:102266603-102267217	H1-hESC	embryonic stem cell:	n/a	n/a
48	POLR2A	chr4:102266230-102271632	MCF-7	breast:	n/a	n/a
49	MAZ	chr4:102267100-102269577	K562	blood:	n/a	chr4:102269253-102269263 chr4:102267703-102267712 chr4:102267599-102267609 chr4:102267620-102267630 chr4:102268341-102268350 chr4:102268753-102268763 chr4:102269560-102269569
50	POLR2A	chr4:102266434-102269934	NB4	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:102267189-102267239	HL-60	blood:	n/a
2	chr4:102267189-102267239	SKMC	muscle:	n/a
3	chr4:102267189-102267239	HRCEpiC	kidney:	n/a
4	chr4:102267189-102267239	PFSK-1	brain:	n/a
5	chr4:102267189-102267239	HepG2	liver:	n/a
6	chr4:102267189-102267239	K562	blood:	n/a
7	chr4:102267189-102267239	ECC-1	luminal epithelium:	n/a
8	chr4:102267189-102267239	GM12892	blood:	n/a
9	chr4:102267189-102267239	NB4	blood:	n/a
10	chr4:102267189-102267239	AG04450	lung:	fetal
11	chr4:102267189-102267239	HIPEpiC	eye:	n/a
12	chr4:102267189-102267239	RPTEC	kidney:	n/a
13	chr4:102267189-102267239	HCF	heart:	n/a
14	chr4:102267189-102267239	NT2-D1	testis:	n/a
15	chr4:102267189-102267239	U87	brain:	n/a
16	chr4:102267189-102267239	HMEC	breast:	n/a
17	chr4:102267189-102267239	HRE	kidney:	n/a
18	chr4:102267189-102267239	HRPEpiC	eye:	n/a
19	chr4:102267189-102267239	LNCaP	prostate:	n/a
20	chr4:102267189-102267239	SK-N-SH_RA	brain:	n/a
21	chr4:102267189-102267239	T-47D	breast:	n/a
22	chr4:102267189-102267239	AG10803	skin:	n/a
23	chr4:102267189-102267239	HCPEpiC	choroid plexus:	n/a
24	chr4:102267189-102267239	GM19239	blood:	n/a
25	chr4:102267189-102267239	ovcar-3	ovarian:	n/a
26	chr4:102267189-102267239	A549	lung:	n/a
27	chr4:102267189-102267239	AG09319	gingival:	n/a
28	chr4:102267189-102267239	CMK	blood:	n/a
29	chr4:102267189-102267239	HNPCEpiC	eye:	n/a
30	chr4:102267189-102267239	Jurkat	blood:	n/a
31	chr4:102267189-102267239	SK-N-MC	brain:	n/a
32	chr4:102267189-102267239	HEEpiC	esophagus:	n/a
33	chr4:102267189-102267239	Hepatocyte	liver:	n/a
34	chr4:102267189-102267239	SK-N-SH	brain:	n/a
35	chr4:102267189-102267239	NHBE	bronchial:	n/a
36	chr4:102267189-102267239	MCF10A-Er-Src	breast:	n/a
37	chr4:102267189-102267239	AG04449	skin:	fetal
38	chr4:102267189-102267239	HCM	heart:	n/a
39	chr4:102267189-102267239	PANC-1	pancreas:	n/a
40	chr4:102267189-102267239	Caco-2	colon:	n/a
41	chr4:102267189-102267239	HAEpiC	amniotic membrane:	n/a
42	chr4:102267189-102267239	PrEC	prostate:	n/a
43	chr4:102267189-102267239	HEK293	kidney:	embryo
44	chr4:102267189-102267239	BE2_C	brain:	n/a
45	chr4:102267189-102267239	AoSMC	blood vessel:	n/a
46	chr4:102267189-102267239	GM06990	blood:	n/a
47	chr4:102267189-102267239	NH-A	brain:	n/a
48	chr4:102267189-102267239	HCT-116	colon:	n/a
49	chr4:102267189-102267239	SAEC	small airway:	n/a
50	chr4:102267189-102267239	IMR90	lung:	fetal

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:102265718..102267485-chr4:103187307..103189886,2	MCF-7	breast:
2	chr4:102263328..102265199-chr4:102265515..102267436,2	K562	blood:

Variant related genes	Relation type
ENSG00000254531	TF binding region
ENSG00000254531	CpG island

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 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

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	chr4:102265800-102267400	Flanking Active TSS	Primary B cells from cord blood	blood
3	chr4:102265800-102269800	Active TSS	Brain Angular Gyrus	brain
4	chr4:102265800-102270000	Active TSS	Fetal Kidney	kidney
5	chr4:102266000-102269000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr4:102266200-102269800	Active TSS	Right Atrium	heart
7	chr4:102266200-102270000	Active TSS	Aorta	Aorta
8	chr4:102266200-102270000	Active TSS	Ovary	ovary
9	chr4:102266400-102268200	Active TSS	Brain Germinal Matrix	brain
10	chr4:102266400-102269600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr4:102266400-102269600	Active TSS	Fetal Stomach	stomach
12	chr4:102266400-102269600	Active TSS	Rectal Mucosa Donor 29	rectum
13	chr4:102266400-102269800	Active TSS	Brain Hippocampus Middle	brain
14	chr4:102266400-102269800	Active TSS	Small Intestine	intestine
15	chr4:102266400-102269800	Active TSS	HSMM	muscle
16	chr4:102266400-102270000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr4:102266400-102270000	Active TSS	Brain Cingulate Gyrus	brain
18	chr4:102266400-102270000	Active TSS	Gastric	stomach
19	chr4:102266400-102270200	Active TSS	Pancreatic Islets	Pancreatic Islet
20	chr4:102266600-102269000	Active TSS	Fetal Muscle Trunk	muscle
21	chr4:102266600-102269600	Active TSS	Brain Inferior Temporal Lobe	brain
22	chr4:102266600-102269600	Active TSS	Colonic Mucosa	Colon
23	chr4:102266600-102269800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr4:102266600-102269800	Active TSS	Colon Smooth Muscle	Colon
25	chr4:102266600-102269800	Active TSS	Lung	lung
26	chr4:102266600-102270000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr4:102266600-102270000	Active TSS	Breast Myoepithelial Primary Cells	Breast
28	chr4:102266600-102270200	Active TSS	ES-I3 Cell Line	embryonic stem cell
29	chr4:102266600-102270200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr4:102266600-102270200	Active TSS	A549	lung
31	chr4:102266600-102270400	Active TSS	Rectal Smooth Muscle	rectum
32	chr4:102266800-102267800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr4:102266800-102269200	Active TSS	HepG2	liver
34	chr4:102266800-102269600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
35	chr4:102266800-102269600	Active TSS	Cortex derived primary cultured neurospheres	brain
36	chr4:102266800-102269800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr4:102266800-102269800	Active TSS	iPS-15b Cell Line	embryonic stem cell
38	chr4:102266800-102269800	Active TSS	iPS-18 Cell Line	embryonic stem cell
39	chr4:102266800-102269800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr4:102266800-102269800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr4:102266800-102269800	Active TSS	Brain Substantia Nigra	brain
42	chr4:102266800-102269800	Active TSS	Right Ventricle	heart
43	chr4:102266800-102269800	Active TSS	NHEK	skin
44	chr4:102266800-102270000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr4:102266800-102270000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr4:102266800-102270000	Active TSS	H9 Cell Line	embryonic stem cell
47	chr4:102266800-102270000	Active TSS	HUES6 Cell Line	embryonic stem cell
48	chr4:102266800-102270000	Active TSS	HUES64 Cell Line	embryonic stem cell
49	chr4:102266800-102270000	Active TSS	Brain Anterior Caudate	brain
50	chr4:102266800-102270000	Active TSS	Fetal Brain Female	brain

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