Variant report

Variant	rs535599092
Chromosome Location	chr1:221052170-221052171
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	CTCF	chr1:221052160-221052310	AG09309	skin:	n/a	n/a
2	POLR2A	chr1:221052170-221053672	HEK293	kidney:	n/a	n/a
3	ZNF143	chr1:221052155-221052746	GM12878	blood:	n/a	n/a
4	REST	chr1:221051646-221052821	HL-60	blood:	n/a	chr1:221051972-221051985 chr1:221052190-221052204
5	CTBP2	chr1:221049806-221056533	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr1:221049750-221054006	HL-60	blood:	n/a	n/a
7	POLR2A	chr1:221052138-221055250	IMR90	lung:	n/a	n/a
8	MAX	chr1:221052017-221053811	A549	lung:	n/a	chr1:221052899-221052909 chr1:221052464-221052473 chr1:221052603-221052613
9	MYC	chr1:221051657-221053132	NB4	blood:	n/a	chr1:221052899-221052909 chr1:221052464-221052473 chr1:221051894-221051909 chr1:221052603-221052613
10	SUZ12	chr1:221048843-221052557	NT2-D1	testis:	n/a	n/a
11	POLR2A	chr1:221050359-221052771	H1-neurons	neurons:	n/a	n/a
12	MAZ	chr1:221051935-221057120	IMR90	lung:	n/a	chr1:221052899-221052909 chr1:221052464-221052473 chr1:221052603-221052613
13	BACH1	chr1:221052129-221052743	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr1:221051778-221053514	NB4	blood:	n/a	n/a
15	MXI1	chr1:221051833-221056348	IMR90	lung:	n/a	chr1:221051897-221051906
16	RUNX3	chr1:221051361-221052278	GM12878	blood:	n/a	n/a
17	RUNX3	chr1:221051943-221052221	GM12878	blood:	n/a	n/a
18	SUZ12	chr1:221051729-221052684	H1-hESC	embryonic stem cell:	n/a	n/a
19	POLR2A	chr1:221052017-221052991	PFSK-1	brain:	n/a	n/a
20	POLR2A	chr1:221047152-221053823	HUVEC	blood vessel:	n/a	n/a
21	SIN3A	chr1:221051745-221052917	H1-hESC	embryonic stem cell:	n/a	chr1:221051972-221051985 chr1:221051897-221051906 chr1:221052906-221052917
22	POLR2A	chr1:221052165-221053700	U87	brain:	n/a	n/a
23	CTCF	chr1:221052140-221052290	AG04450	lung:	n/a	n/a
24	ELF1	chr1:221052092-221052568	GM12878	blood:	n/a	n/a
25	MAX	chr1:221052049-221052402	H1-hESC	embryonic stem cell:	n/a	n/a
26	MXI1	chr1:221052003-221054089	SK-N-SH	brain:	n/a	n/a
27	E2F6	chr1:221052036-221053701	A549	lung:	n/a	chr1:221052962-221052971 chr1:221052900-221052909 chr1:221052955-221052965 chr1:221053102-221053112 chr1:221052320-221052331
28	MAX	chr1:221051631-221053170	NB4	blood:	n/a	chr1:221052899-221052909 chr1:221052464-221052473 chr1:221051894-221051909 chr1:221052603-221052613
29	CHD2	chr1:221052141-221052582	GM12878	blood:	n/a	n/a
30	POLR2A	chr1:221052009-221053537	HUVEC	blood vessel:	n/a	n/a
31	POLR2A	chr1:221052025-221052228	ProgFib	skin:	n/a	n/a
32	MAX	chr1:221051727-221052406	H1-hESC	embryonic stem cell:	n/a	chr1:221051894-221051909
33	POLR2A	chr1:221051351-221053728	HL-60	blood:	n/a	n/a
34	POLR2A	chr1:221052165-221053706	U87	brain:	n/a	n/a
35	CTCF	chr1:221052060-221052210	NHDF-neo	bronchial:	n/a	n/a
36	POLR2A	chr1:221050386-221055418	H1-neurons	neurons:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:221052143-221052193	AG10803	skin:	n/a
2	chr1:221052143-221052193	HRPEpiC	eye:	n/a
3	chr1:221052143-221052193	CMK	blood:	n/a
4	chr1:221052143-221052193	HRCEpiC	kidney:	n/a
5	chr1:221052143-221052193	GM19239	blood:	n/a
6	chr1:221052143-221052193	HPAEpiC	pulmonary alveolar:	n/a
7	chr1:221052143-221052193	PrEC	prostate:	n/a
8	chr1:221052143-221052193	HNPCEpiC	eye:	n/a
9	chr1:221052143-221052193	HL-60	blood:	n/a
10	chr1:221052143-221052193	NH-A	brain:	n/a
11	chr1:221052143-221052193	BJ	skin:	n/a
12	chr1:221052143-221052193	NT2-D1	testis:	n/a
13	chr1:221052143-221052193	HepG2	liver:	n/a
14	chr1:221052143-221052193	U87	brain:	n/a
15	chr1:221052143-221052193	GM06990	blood:	n/a
16	chr1:221052143-221052193	AG09309	skin:	n/a
17	chr1:221052143-221052193	MCF10A-Er-Src	breast:	n/a
18	chr1:221052143-221052193	HCT-116	colon:	n/a
19	chr1:221052143-221052193	MCF-7	breast:	n/a
20	chr1:221052143-221052193	Hela-S3	cervix:	n/a
21	chr1:221052143-221052193	SKMC	muscle:	n/a
22	chr1:221052143-221052193	ProgFib	skin:	n/a
23	chr1:221052143-221052193	AG04449	skin:	fetal
24	chr1:221052143-221052193	GM12878	blood:	n/a
25	chr1:221052143-221052193	SK-N-SH	brain:	n/a
26	chr1:221052143-221052193	HCF	heart:	n/a
27	chr1:221052143-221052193	BE2_C	brain:	n/a
28	chr1:221052143-221052193	GM12892	blood:	n/a
29	chr1:221052143-221052193	HIPEpiC	eye:	n/a
30	chr1:221052143-221052193	SK-N-MC	brain:	n/a
31	chr1:221052143-221052193	ovcar-3	ovarian:	n/a
32	chr1:221052143-221052193	GM12891	blood:	n/a
33	chr1:221052143-221052193	HCPEpiC	choroid plexus:	n/a
34	chr1:221052143-221052193	Caco-2	colon:	n/a
35	chr1:221052143-221052193	NHDF-neo	bronchial:	n/a
36	chr1:221052143-221052193	HMEC	breast:	n/a
37	chr1:221052143-221052193	AG04450	lung:	fetal
38	chr1:221052143-221052193	Hepatocyte	liver:	n/a
39	chr1:221052143-221052193	SK-N-SH_RA	brain:	n/a
40	chr1:221052143-221052193	HAEpiC	amniotic membrane:	n/a
41	chr1:221052143-221052193	HCM	heart:	n/a
42	chr1:221052143-221052193	AG09319	gingival:	n/a
43	chr1:221052143-221052193	LNCaP	prostate:	n/a
44	chr1:221052143-221052193	ECC-1	luminal epithelium:	n/a
45	chr1:221052143-221052193	HEK293	kidney:	embryo
46	chr1:221052143-221052193	T-47D	breast:	n/a
47	chr1:221052143-221052193	NHBE	bronchial:	n/a
48	chr1:221052143-221052193	NB4	blood:	n/a
49	chr1:221052143-221052193	H1-hESC	embryonic stem cell:	embryo
50	chr1:221052143-221052193	K562	blood:	n/a

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

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv997685	chr1:220993527-221863416	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv535299	chr1:220993527-221863416	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	esv1798350	chr1:221020278-221069740	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv3393770	chr1:221051854-221054702	Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:221049000-221053800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
2	chr1:221049400-221052600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
3	chr1:221049600-221052600	Flanking Active TSS	Primary hematopoietic stem cells	blood
4	chr1:221049600-221052800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr1:221049600-221052800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
6	chr1:221049600-221055600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr1:221049800-221052600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
8	chr1:221049800-221055400	Active TSS	Right Atrium	heart
9	chr1:221049800-221055800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
10	chr1:221050000-221055400	Active TSS	Left Ventricle	heart
11	chr1:221050200-221053800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
12	chr1:221050400-221052200	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr1:221050400-221053600	Bivalent Enhancer	Fetal Brain Male	brain
14	chr1:221050400-221055200	Flanking Active TSS	Primary B cells from cord blood	blood
15	chr1:221050600-221052600	Enhancers	Spleen	Spleen
16	chr1:221050800-221052200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
17	chr1:221050800-221052600	Flanking Active TSS	Adipose Nuclei	Adipose
18	chr1:221051000-221052200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
19	chr1:221051000-221052200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr1:221051200-221052200	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
21	chr1:221051200-221052200	Bivalent Enhancer	Stomach Mucosa	stomach
22	chr1:221051200-221052400	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr1:221051200-221052600	Bivalent/Poised TSS	Brain Anterior Caudate	brain
24	chr1:221051200-221053800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
25	chr1:221051200-221054400	Active TSS	Lung	lung
26	chr1:221051200-221055000	Active TSS	Rectal Smooth Muscle	rectum
27	chr1:221051200-221055600	Active TSS	Right Ventricle	heart
28	chr1:221051400-221052200	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
29	chr1:221051400-221052800	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
30	chr1:221051400-221054000	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
31	chr1:221051400-221056000	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
32	chr1:221051600-221052200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr1:221051600-221052200	Flanking Active TSS	Osteobl	bone
34	chr1:221051600-221052400	Flanking Bivalent TSS/Enh	Primary B cells from peripheral blood	blood
35	chr1:221051600-221052600	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
36	chr1:221051600-221052800	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
37	chr1:221051600-221054400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr1:221051600-221054600	Active TSS	Colon Smooth Muscle	Colon
39	chr1:221051800-221052200	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr1:221051800-221052200	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr1:221051800-221052200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
42	chr1:221051800-221052200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr1:221051800-221052200	Enhancers	Aorta	Aorta
44	chr1:221051800-221052200	Bivalent Enhancer	Brain Cingulate Gyrus	brain
45	chr1:221051800-221052200	Flanking Active TSS	Brain Substantia Nigra	brain
46	chr1:221051800-221052200	Enhancers	Esophagus	oesophagus
47	chr1:221051800-221052200	Flanking Bivalent TSS/Enh	Fetal Heart	heart
48	chr1:221051800-221052200	Flanking Bivalent TSS/Enh	NH-A	brain
49	chr1:221051800-221052200	Flanking Active TSS	NHLF	lung
50	chr1:221051800-221052400	Flanking Active TSS	Liver	Liver

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