Variant report

Variant	rs371017121
Chromosome Location	chr1:95007830-95007831
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	TBP	chr1:95007342-95008198	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr1:95005611-95008251	Hela-S3	cervix:	n/a	n/a
3	FOSL1	chr1:95006931-95008022	HCT-116	colon:	n/a	chr1:95007517-95007527 chr1:95007516-95007528 chr1:95007518-95007527 chr1:95007517-95007526 chr1:95007518-95007525
4	JUN	chr1:95007410-95007836	Hela-S3	cervix:	n/a	chr1:95007517-95007527 chr1:95007516-95007528 chr1:95007518-95007527 chr1:95007517-95007526 chr1:95007518-95007525
5	FOSL1	chr1:95007030-95007921	HCT-116	colon:	n/a	chr1:95007517-95007527 chr1:95007516-95007528 chr1:95007518-95007527 chr1:95007517-95007526 chr1:95007518-95007525
6	EGR1	chr1:95007050-95007924	HCT-116	colon:	n/a	chr1:95007475-95007485 chr1:95007384-95007398 chr1:95007410-95007424 chr1:95007477-95007490
7	GTF2F1	chr1:95007247-95008830	Hela-S3	cervix:	n/a	n/a
8	JUND	chr1:95007371-95007864	MCF-7	breast:	n/a	chr1:95007517-95007527 chr1:95007516-95007528 chr1:95007518-95007527 chr1:95007517-95007526 chr1:95007518-95007525 chr1:95007516-95007527
9	MYBL2	chr1:95007424-95007890	HepG2	liver:	n/a	n/a
10	RAD21	chr1:95007382-95007977	H1-hESC	embryonic stem cell:	n/a	n/a
11	MAZ	chr1:95006424-95007855	Hela-S3	cervix:	n/a	chr1:95006717-95006724 chr1:95006812-95006821
12	CHD2	chr1:95006578-95007853	Hela-S3	cervix:	n/a	n/a
13	SMARCC1	chr1:95007449-95008267	Hela-S3	cervix:	n/a	chr1:95007517-95007526 chr1:95007518-95007527
14	TCF12	chr1:95006785-95007899	ECC-1	luminal epithelium:	n/a	n/a
15	POLR2A	chr1:95007799-95008250	HCT-116	colon:	n/a	n/a
16	BACH1	chr1:95006990-95008182	H1-hESC	embryonic stem cell:	n/a	chr1:95007515-95007529
17	POLR2A	chr1:95006964-95007899	H1-hESC	embryonic stem cell:	n/a	n/a
18	POLR2A	chr1:95006048-95007983	Hela-S3	cervix:	n/a	n/a
19	POLR2A	chr1:94991604-95010849	IMR90	lung:	n/a	n/a
20	EP300	chr1:95007224-95008277	SK-N-SH	brain:	n/a	chr1:95007518-95007527 chr1:95008212-95008226 chr1:95008206-95008220
21	HA-E2F1	chr1:95006261-95007853	MCF-7	breast:	n/a	chr1:95007476-95007485
22	POLR2A	chr1:95006117-95008373	Hela-S3	cervix:	n/a	n/a
23	JUN	chr1:95007199-95007869	K562	blood:	n/a	chr1:95007517-95007527 chr1:95007516-95007528 chr1:95007518-95007527 chr1:95007517-95007526 chr1:95007518-95007525
24	POLR2A	chr1:95000323-95009541	MCF10A-Er-Src	breast:	n/a	n/a
25	SMARCB1	chr1:95006190-95008144	Hela-S3	cervix:	n/a	chr1:95007517-95007526 chr1:95007518-95007527
26	POLR2A	chr1:95006887-95008137	A549	lung:	n/a	n/a
27	POLR2A	chr1:95003836-95008278	U87	brain:	n/a	n/a
28	RCOR1	chr1:95006244-95008216	Hela-S3	cervix:	n/a	n/a
29	JUND	chr1:95007114-95008259	H1-hESC	embryonic stem cell:	n/a	chr1:95007517-95007527 chr1:95007516-95007528 chr1:95007518-95007527 chr1:95007517-95007526 chr1:95007518-95007525 chr1:95007516-95007527
30	MAX	chr1:95007416-95007997	H1-hESC	embryonic stem cell:	n/a	n/a
31	REST	chr1:95007282-95008301	H1-neurons	neurons:	n/a	n/a
32	POLR2A	chr1:95006900-95007933	SK-N-MC	brain:	n/a	n/a
33	JUND	chr1:95007256-95007843	SK-N-SH	brain:	n/a	chr1:95007517-95007527 chr1:95007516-95007528 chr1:95007518-95007527 chr1:95007517-95007526 chr1:95007518-95007525 chr1:95007516-95007527
34	CHD1	chr1:94994939-95011321	IMR90	lung:	n/a	n/a
35	SIN3AK20	chr1:95007553-95007987	H1-hESC	embryonic stem cell:	n/a	n/a
36	JUND	chr1:95007163-95008313	HCT-116	colon:	n/a	chr1:95007517-95007527 chr1:95007516-95007528 chr1:95007518-95007527 chr1:95007517-95007526 chr1:95007518-95007525 chr1:95007516-95007527
37	FOSL2	chr1:95007228-95007948	A549	lung:	n/a	chr1:95007517-95007527 chr1:95007516-95007528 chr1:95007518-95007527 chr1:95007517-95007526 chr1:95007518-95007525
38	MAX	chr1:95006434-95008039	A549	lung:	n/a	chr1:95006717-95006724 chr1:95006812-95006821
39	POLR2A	chr1:95004799-95008370	Hela-S3	cervix:	n/a	n/a
40	POLR2A	chr1:95006041-95007962	U87	brain:	n/a	n/a
41	POLR2A	chr1:95006967-95008233	HL-60	blood:	n/a	n/a
42	POLR2A	chr1:95004630-95008333	MCF10A-Er-Src	breast:	n/a	n/a
43	POLR2A	chr1:95006088-95008209	Hela-S3	cervix:	n/a	n/a
44	ZNF263	chr1:95006521-95008158	HEK293-T-REx	kidney:	n/a	chr1:95007481-95007490
45	HMGN3	chr1:95007415-95008046	K562	blood:	n/a	chr1:95007516-95007525
46	TCF7L2	chr1:95007107-95007912	HCT-116	colon:	n/a	chr1:95007517-95007526 chr1:95007518-95007527
47	MAX	chr1:95006221-95008190	NB4	blood:	n/a	chr1:95006717-95006724 chr1:95006812-95006821
48	MAX	chr1:95005063-95008387	Hela-S3	cervix:	n/a	chr1:95006717-95006724 chr1:95006812-95006821
49	POLR2A	chr1:95006933-95007911	H1-hESC	embryonic stem cell:	n/a	n/a
50	HA-E2F1	chr1:95006724-95007854	Hela-S3	cervix:	n/a	chr1:95007476-95007485

No.	Distal block	Cell Line	Cell type
1	chr1:95007807..95010747-chr1:95056056..95057592,2	MCF-7	breast:
2	chr1:95001173..95003691-chr1:95006398..95009153,2	MCF-7	breast:
3	chr1:95007807..95010270-chr1:95025313..95026976,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ABCD3-1	chr1:95007516-95008786	NONHSAT004594

Variant related genes	Relation type
F3	TF binding region
ENSG00000117525	Chromatin interaction

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	nsv531881	chr1:94937444-95053785	Weak transcription Bivalent Enhancer Strong transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv870696	chr1:95005220-95081587	Weak transcription Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv871391	chr1:95005220-95083836	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	esv3437143	chr1:95006189-95008737	Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:95003000-95008400	Active TSS	Brain Angular Gyrus	brain
2	chr1:95004200-95008800	Active TSS	Ovary	ovary
3	chr1:95004400-95008200	Active TSS	Pancreas	Pancrea
4	chr1:95005400-95008000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
5	chr1:95005400-95008000	Active TSS	Placenta Amnion	Placenta Amnion
6	chr1:95005400-95008000	Active TSS	Stomach Mucosa	stomach
7	chr1:95005400-95008400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
8	chr1:95005600-95008200	Active TSS	NHDF-Ad	bronchial
9	chr1:95005600-95008800	Active TSS	Breast Myoepithelial Primary Cells	Breast
10	chr1:95005800-95008000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
11	chr1:95005800-95008000	Active TSS	Brain Substantia Nigra	brain
12	chr1:95005800-95008200	Active TSS	Pancreatic Islets	Pancreatic Islet
13	chr1:95005800-95008600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr1:95006200-95008000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
15	chr1:95006200-95008200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr1:95006200-95008600	Active TSS	Aorta	Aorta
17	chr1:95006400-95008000	Active TSS	Colon Smooth Muscle	Colon
18	chr1:95006600-95008000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr1:95006600-95008000	Active TSS	A549	lung
20	chr1:95006600-95008200	Active TSS	Fetal Intestine Small	intestine
21	chr1:95006600-95008200	Active TSS	Gastric	stomach
22	chr1:95006600-95008600	Active TSS	NHLF	lung
23	chr1:95006600-95008800	Active TSS	Sigmoid Colon	Sigmoid Colon
24	chr1:95006800-95008000	Active TSS	H9 Cell Line	embryonic stem cell
25	chr1:95006800-95008000	Active TSS	HUES6 Cell Line	embryonic stem cell
26	chr1:95006800-95008000	Active TSS	iPS-15b Cell Line	embryonic stem cell
27	chr1:95006800-95008000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr1:95006800-95008200	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
29	chr1:95006800-95008200	Active TSS	Duodenum Smooth Muscle	Duodenum
30	chr1:95006800-95008200	Active TSS	Fetal Kidney	kidney
31	chr1:95006800-95008400	Flanking Active TSS	Primary B cells from cord blood	blood
32	chr1:95006800-95008600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr1:95006800-95008600	Active TSS	NHEK	skin
34	chr1:95006800-95009200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr1:95007000-95009400	Active TSS	ES-I3 Cell Line	embryonic stem cell
36	chr1:95007200-95008400	Bivalent/Poised TSS	Thymus	Thymus
37	chr1:95007200-95009600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr1:95007400-95008000	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
39	chr1:95007400-95008200	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
40	chr1:95007400-95008200	Flanking Active TSS	Placenta	Placenta
41	chr1:95007400-95008400	Flanking Bivalent TSS/Enh	Primary B cells from peripheral blood	blood
42	chr1:95007400-95009400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr1:95007600-95008000	Flanking Active TSS	Brain Anterior Caudate	brain
44	chr1:95007600-95008000	Enhancers	Fetal Brain Male	brain
45	chr1:95007600-95008000	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
46	chr1:95007600-95008000	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
47	chr1:95007600-95008000	Flanking Active TSS	Spleen	Spleen
48	chr1:95007600-95008200	Flanking Bivalent TSS/Enh	Primary T helper naive cells fromperipheralblood	blood
49	chr1:95007600-95008200	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
50	chr1:95007600-95008200	Flanking Bivalent TSS/Enh	Primary T helper 17 cells PMA-I stimulated	--

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