Variant report

Variant	rs7600918
Chromosome Location	chr2:113484755-113484756
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	MAZ	chr2:113484128-113485071	IMR90	lung:	n/a	chr2:113485038-113485048
2	FOXA1	chr2:113484379-113484767	T-47D	breast:	n/a	n/a
3	CTCF	chr2:113483515-113484999	HCT-116	colon:	n/a	chr2:113483786-113483807 chr2:113483797-113483806 chr2:113483791-113483809 chr2:113484173-113484182
4	CTCF	chr2:113484159-113484771	HCT-116	colon:	n/a	chr2:113484173-113484182
5	RAD21	chr2:113484098-113484801	IMR90	lung:	n/a	n/a
6	FOXA2	chr2:113484294-113484775	A549	lung:	n/a	n/a
7	RAD21	chr2:113484249-113484848	A549	lung:	n/a	n/a
8	FOXM1	chr2:113484067-113484819	GM12878	blood:	n/a	n/a
9	GATA1	chr2:113484190-113486166	K562	blood:	n/a	chr2:113485738-113485754 chr2:113485743-113485750 chr2:113485743-113485750 chr2:113485738-113485754 chr2:113485741-113485751 chr2:113485743-113485750 chr2:113485736-113485757 chr2:113485741-113485750
10	RAD21	chr2:113484105-113484802	H1-hESC	embryonic stem cell:	n/a	n/a
11	CTCF	chr2:113483485-113484920	A549	lung:	n/a	chr2:113483786-113483807 chr2:113483797-113483806 chr2:113483791-113483809 chr2:113484173-113484182
12	RAD21	chr2:113484077-113484825	MCF-7	breast:	n/a	n/a
13	RAD21	chr2:113484087-113484792	ECC-1	luminal epithelium:	n/a	n/a
14	TCF12	chr2:113484149-113484760	A549	lung:	n/a	n/a
15	RAD21	chr2:113483892-113484909	A549	lung:	n/a	n/a
16	TCF12	chr2:113484190-113484782	ECC-1	luminal epithelium:	n/a	n/a
17	MAX	chr2:113484182-113484817	H1-hESC	embryonic stem cell:	n/a	n/a
18	POLR2A	chr2:113483970-113484787	K562	blood:	n/a	n/a
19	CHD1	chr2:113484034-113484893	IMR90	lung:	n/a	n/a
20	SMC3	chr2:113484115-113484784	K562	blood:	n/a	chr2:113484169-113484183
21	RAD21	chr2:113484110-113484769	HepG2	liver:	n/a	n/a
22	ZEB1	chr2:113483209-113484889	HepG2	liver:	n/a	chr2:113483982-113483990 chr2:113483843-113483852 chr2:113483609-113483616
23	CTCF	chr2:113484247-113484774	MCF-7	breast:	n/a	n/a
24	MXI1	chr2:113484077-113484862	IMR90	lung:	n/a	n/a
25	CTCF	chr2:113484137-113484805	K562	blood:	n/a	chr2:113484173-113484182
26	RAD21	chr2:113483376-113484929	HCT-116	colon:	n/a	chr2:113483793-113483803 chr2:113483789-113483808
27	MAX	chr2:113484027-113484791	MCF-7	breast:	n/a	n/a
28	RAD21	chr2:113484199-113484772	GM12878	blood:	n/a	n/a
29	RAD21	chr2:113483295-113484987	HCT-116	colon:	n/a	chr2:113483793-113483803 chr2:113483789-113483808
30	CTCF	chr2:113483438-113484897	SK-N-SH	brain:	n/a	chr2:113483786-113483807 chr2:113483797-113483806 chr2:113483791-113483809 chr2:113484173-113484182
31	RAD21	chr2:113484076-113484956	SK-N-SH	brain:	n/a	n/a
32	CTCF	chr2:113484660-113484810	GM12871	blood:	n/a	n/a
33	SMC3	chr2:113483993-113484868	SK-N-SH	brain:	n/a	chr2:113484169-113484183
34	MTA3	chr2:113483321-113484838	GM12878	blood:	n/a	n/a
35	SPI1	chr2:113484097-113484797	HL-60	blood:	n/a	n/a
36	JUN	chr2:113484062-113486435	K562	blood:	n/a	n/a
37	CTCF	chr2:113484720-113484870	HA-sp	spinal cord:	n/a	n/a
38	CTCF	chr2:113484080-113484794	MCF-7	breast:	n/a	chr2:113484173-113484182
39	SPI1	chr2:113483895-113484853	GM12878	blood:	n/a	chr2:113484070-113484077

No.	Distal block	Cell Line	Cell type
1	chr2:113399891..113407010-chr2:113481534..113486055,14	K562	blood:
2	chr2:113357420..113358272-chr2:113483946..113484977,12	K562	blood:
3	chr2:113338256..113339919-chr2:113484252..113486585,3	MCF-7	breast:
4	chr2:113470986..113471535-chr2:113484133..113484894,2	K562	blood:
5	chr2:113383817..113384789-chr2:113484041..113484921,7	MCF-7	breast:
6	chr2:113402591..113403420-chr2:113483970..113484957,3	K562	blood:
7	chr2:113401788..113407326-chr2:113480776..113487899,15	MCF-7	breast:
8	chr2:113297047..113302352-chr2:113483159..113487384,5	K562	blood:
9	chr2:113484246..113487026-chr2:113487818..113491393,4	MCF-7	breast:
10	chr2:113401688..113406035-chr2:113480430..113485744,11	MCF-7	breast:
11	chr2:113401171..113414378-chr2:113468812..113486672,46	K562	blood:
12	chr2:113415099..113418730-chr2:113484170..113487314,3	K562	blood:
13	chr2:113340008..113343992-chr2:113483304..113487579,6	K562	blood:
14	chr2:113383746..113384937-chr2:113484019..113484887,5	MCF-7	breast:
15	chr2:113340774..113345524-chr2:113480391..113485957,9	MCF-7	breast:
16	chr2:113338959..113342918-chr2:113483353..113487579,5	K562	blood:
17	chr2:113447408..113450068-chr2:113484150..113486328,2	MCF-7	breast:

Variant related genes	Relation type
NT5DC4	TF binding region
ENSG00000125630	Chromatin interaction
ENSG00000125611	Chromatin interaction
ENSG00000144136	Chromatin interaction
ENSG00000237753	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs17042296	0.80[YRI][hapmap]
rs17042298	0.80[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428724	chr2:113376894-113555421	Genic enhancers Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv1010106	chr2:113394981-113556071	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
3	nsv526301	chr2:113451498-113495785	Strong transcription Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113464200-113486400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr2:113477600-113487000	Enhancers	Monocytes-CD14+_RO01746	blood
3	chr2:113478600-113488200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr2:113479400-113485200	Enhancers	K562	blood
5	chr2:113480000-113488200	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr2:113481200-113487600	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr2:113481800-113486600	Enhancers	Placenta	Placenta
8	chr2:113482200-113484800	Enhancers	Primary B cells from peripheral blood	blood
9	chr2:113482200-113485000	Enhancers	Hela-S3	cervix
10	chr2:113482200-113485200	Enhancers	HMEC	breast
11	chr2:113482400-113484800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr2:113482400-113484800	Enhancers	Fetal Intestine Large	intestine
13	chr2:113482400-113484800	Enhancers	Fetal Intestine Small	intestine
14	chr2:113482600-113484800	Enhancers	NHEK	skin
15	chr2:113482800-113484800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr2:113483000-113488200	Enhancers	Spleen	Spleen
17	chr2:113483600-113484800	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr2:113483600-113484800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr2:113483600-113484800	Enhancers	Fetal Brain Male	brain
20	chr2:113483600-113487600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr2:113483800-113484800	Enhancers	Primary B cells from cord blood	blood
22	chr2:113483800-113484800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
23	chr2:113483800-113488200	Enhancers	Primary neutrophils fromperipheralblood	blood
24	chr2:113484000-113484800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr2:113484000-113484800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
26	chr2:113484000-113484800	Enhancers	Brain Cingulate Gyrus	brain
27	chr2:113484000-113484800	Enhancers	Fetal Muscle Leg	muscle
28	chr2:113484000-113485000	Enhancers	Dnd41	blood
29	chr2:113484000-113486200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr2:113484000-113487400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr2:113484200-113484800	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr2:113484200-113484800	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr2:113484200-113484800	Enhancers	Liver	Liver
34	chr2:113484200-113484800	Enhancers	Brain Inferior Temporal Lobe	brain
35	chr2:113484200-113484800	Enhancers	Left Ventricle	heart
36	chr2:113484200-113484800	Enhancers	Lung	lung
37	chr2:113484200-113484800	Enhancers	Right Ventricle	heart
38	chr2:113484200-113484800	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
39	chr2:113484200-113484800	Enhancers	NHDF-Ad	bronchial
40	chr2:113484200-113485000	Bivalent Enhancer	Duodenum Mucosa	Duodenum
41	chr2:113484200-113485000	Enhancers	Stomach Mucosa	stomach
42	chr2:113484200-113497200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr2:113484400-113485400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr2:113484400-113485600	Weak transcription	Primary hematopoietic stem cells	blood
45	chr2:113484400-113485600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
46	chr2:113484400-113485800	Weak transcription	Fetal Heart	heart
47	chr2:113484400-113486000	Weak transcription	Brain Hippocampus Middle	brain
48	chr2:113484400-113494200	Weak transcription	A549	lung
49	chr2:113484400-113494800	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr2:113484400-113495000	Weak transcription	Cortex derived primary cultured neurospheres	brain

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