Variant report

Variant	rs192598798
Chromosome Location	chr22:29467385-29467386
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	EBF1	chr22:29467165-29467574	GM12878	blood:	n/a	chr22:29467350-29467361
2	POLR2A	chr22:29467340-29467620	H1-hESC	embryonic stem cell:	n/a	n/a
3	MAX	chr22:29467234-29468090	HepG2	liver:	n/a	chr22:29467687-29467697
4	HDAC2	chr22:29467201-29467930	HepG2	liver:	n/a	n/a
5	POLR2A	chr22:29467306-29467677	HepG2	liver:	n/a	n/a
6	CEBPD	chr22:29467321-29467794	HepG2	liver:	n/a	n/a
7	YY1	chr22:29467373-29467818	HepG2	liver:	n/a	chr22:29467600-29467614 chr22:29467489-29467500 chr22:29467545-29467559 chr22:29467542-29467551
8	EGR1	chr22:29467261-29467394	GM12878	blood:	n/a	chr22:29467299-29467313
9	POLR2A	chr22:29467381-29467639	A549	lung:	n/a	n/a
10	E2F6	chr22:29467318-29467971	H1-hESC	embryonic stem cell:	n/a	chr22:29467536-29467548 chr22:29467605-29467614 chr22:29467607-29467617 chr22:29467540-29467550
11	MAX	chr22:29467344-29467925	H1-hESC	embryonic stem cell:	n/a	chr22:29467687-29467697
12	POLR2A	chr22:29467335-29467754	HepG2	liver:	n/a	n/a
13	EGR1	chr22:29467190-29467406	K562	blood:	n/a	chr22:29467299-29467313
14	TCF7L2	chr22:29467317-29467772	HEK293	kidney:	n/a	n/a
15	POLR2A	chr22:29467376-29467723	HepG2	liver:	n/a	n/a
16	MYC	chr22:29467282-29467952	MCF10A-Er-Src	breast:	n/a	chr22:29467687-29467697
17	EGR1	chr22:29467213-29467446	K562	blood:	n/a	chr22:29467299-29467313
18	POLR2A	chr22:29467188-29468888	PBDE	blood:	n/a	n/a
19	POLR2A	chr22:29467384-29467712	HepG2	liver:	n/a	n/a
20	HA-E2F1	chr22:29467364-29467773	Hela-S3	cervix:	n/a	chr22:29467536-29467548 chr22:29467605-29467614 chr22:29467607-29467617 chr22:29467540-29467550
21	E2F6	chr22:29467339-29467969	H1-hESC	embryonic stem cell:	n/a	chr22:29467536-29467548 chr22:29467605-29467614 chr22:29467607-29467617 chr22:29467540-29467550
22	POLR2A	chr22:29467302-29467675	MCF10A-Er-Src	breast:	n/a	n/a
23	EBF1	chr22:29467191-29467642	GM12878	blood:	n/a	chr22:29467350-29467361
24	MAX	chr22:29467141-29468028	HepG2	liver:	n/a	chr22:29467148-29467158 chr22:29467687-29467697
25	E2F4	chr22:29467374-29468061	MCF10A-Er-Src	breast:	n/a	chr22:29467536-29467548 chr22:29467605-29467614 chr22:29467607-29467617 chr22:29467540-29467550
26	POLR2A	chr22:29467257-29467801	GM12892	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr22:29467363-29467413	Hela-S3	cervix:	n/a
2	chr22:29467363-29467413	ProgFib	skin:	n/a
3	chr22:29467363-29467413	NH-A	brain:	n/a
4	chr22:29467363-29467413	HRPEpiC	eye:	n/a
5	chr22:29467363-29467413	PFSK-1	brain:	n/a
6	chr22:29467363-29467413	T-47D	breast:	n/a
7	chr22:29467363-29467413	H1-hESC	embryonic stem cell:	embryo
8	chr22:29467363-29467413	HCT-116	colon:	n/a
9	chr22:29467363-29467413	GM19239	blood:	n/a
10	chr22:29467363-29467413	NHBE	bronchial:	n/a
11	chr22:29467363-29467413	NB4	blood:	n/a
12	chr22:29467363-29467413	GM12878	blood:	n/a
13	chr22:29467363-29467413	HRCEpiC	kidney:	n/a
14	chr22:29467363-29467413	CMK	blood:	n/a
15	chr22:29467363-29467413	HepG2	liver:	n/a
16	chr22:29467363-29467413	Caco-2	colon:	n/a
17	chr22:29467363-29467413	Hepatocyte	liver:	n/a
18	chr22:29467363-29467413	LNCaP	prostate:	n/a
19	chr22:29467363-29467413	HUVEC	blood vessel:	n/a
20	chr22:29467363-29467413	HCPEpiC	choroid plexus:	n/a
21	chr22:29467363-29467413	SK-N-MC	brain:	n/a
22	chr22:29467363-29467413	AG10803	skin:	n/a
23	chr22:29467363-29467413	PrEC	prostate:	n/a
24	chr22:29467363-29467413	HPAEpiC	pulmonary alveolar:	n/a
25	chr22:29467363-29467413	NHDF-neo	bronchial:	n/a
26	chr22:29467363-29467413	HMEC	breast:	n/a
27	chr22:29467363-29467413	HRE	kidney:	n/a
28	chr22:29467363-29467413	Jurkat	blood:	n/a
29	chr22:29467363-29467413	AG09309	skin:	n/a
30	chr22:29467363-29467413	U87	brain:	n/a
31	chr22:29467363-29467413	HEEpiC	esophagus:	n/a
32	chr22:29467363-29467413	SAEC	small airway:	n/a
33	chr22:29467363-29467413	HCF	heart:	n/a
34	chr22:29467363-29467413	K562	blood:	n/a
35	chr22:29467363-29467413	A549	lung:	n/a
36	chr22:29467363-29467413	BE2_C	brain:	n/a
37	chr22:29467363-29467413	SK-N-SH	brain:	n/a
38	chr22:29467363-29467413	HNPCEpiC	eye:	n/a
39	chr22:29467363-29467413	NT2-D1	testis:	n/a
40	chr22:29467363-29467413	ECC-1	luminal epithelium:	n/a
41	chr22:29467363-29467413	RPTEC	kidney:	n/a
42	chr22:29467363-29467413	GM06990	blood:	n/a
43	chr22:29467363-29467413	AG04450	lung:	fetal
44	chr22:29467363-29467413	AoSMC	blood vessel:	n/a
45	chr22:29467363-29467413	AG09319	gingival:	n/a
46	chr22:29467363-29467413	HL-60	blood:	n/a
47	chr22:29467363-29467413	PANC-1	pancreas:	n/a
48	chr22:29467363-29467413	HCM	heart:	n/a
49	chr22:29467363-29467413	MCF-7	breast:	n/a
50	chr22:29467363-29467413	SK-N-SH_RA	brain:	n/a

Variant related genes	Relation type
KREMEN1	TF binding region
KREMEN1	CpG island

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531586	chr22:29252132-29902266	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv524259	chr22:29467221-29482221	Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29462200-29467800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr22:29462400-29467800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr22:29462400-29467800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr22:29463800-29468400	Weak transcription	Dnd41	blood
5	chr22:29465000-29467400	Enhancers	Skeletal Muscle Male	skeletal muscle
6	chr22:29465400-29467400	Bivalent Enhancer	Fetal Muscle Leg	muscle
7	chr22:29465800-29467400	Weak transcription	Psoas Muscle	Psoas
8	chr22:29465800-29467800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr22:29465800-29468400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr22:29466400-29467400	Bivalent Enhancer	Fetal Thymus	thymus
11	chr22:29466400-29467800	Enhancers	Placenta	Placenta
12	chr22:29466600-29467400	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr22:29466600-29467800	Enhancers	Stomach Mucosa	stomach
14	chr22:29466600-29468200	Enhancers	Esophagus	oesophagus
15	chr22:29466800-29467400	Flanking Active TSS	HepG2	liver
16	chr22:29466800-29467600	Enhancers	Rectal Mucosa Donor 29	rectum
17	chr22:29466800-29468600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr22:29467000-29467400	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
19	chr22:29467000-29467400	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr22:29467000-29467400	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr22:29467000-29467400	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
22	chr22:29467000-29467400	Enhancers	Primary T helper cells fromperipheralblood	blood
23	chr22:29467000-29467400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr22:29467000-29467400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr22:29467000-29467400	Enhancers	Brain Hippocampus Middle	brain
26	chr22:29467000-29467400	Enhancers	Colonic Mucosa	Colon
27	chr22:29467000-29467400	Flanking Active TSS	Fetal Intestine Small	intestine
28	chr22:29467000-29467400	Flanking Active TSS	NHEK	skin
29	chr22:29467000-29467600	Enhancers	Liver	Liver
30	chr22:29467000-29467800	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
31	chr22:29467000-29468000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
32	chr22:29467000-29468800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr22:29467000-29470400	Enhancers	Fetal Heart	heart
34	chr22:29467200-29467400	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr22:29467200-29467400	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr22:29467200-29467400	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
37	chr22:29467200-29467400	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
38	chr22:29467200-29467400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr22:29467200-29467400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
40	chr22:29467200-29467400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
41	chr22:29467200-29467400	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
42	chr22:29467200-29467400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr22:29467200-29467400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr22:29467200-29467400	Flanking Active TSS	Adipose Nuclei	Adipose
45	chr22:29467200-29467400	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
46	chr22:29467200-29467400	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
47	chr22:29467200-29467400	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
48	chr22:29467200-29467400	Enhancers	Pancreas	Pancrea
49	chr22:29467200-29467400	Flanking Bivalent TSS/Enh	Thymus	Thymus
50	chr22:29467200-29467400	Flanking Active TSS	HMEC	breast

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