Variant report

Variant	rs2429247
Chromosome Location	chr7:150974661-150974662
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	EGR1	chr7:150973955-150974783	HCT-116	colon:	n/a	chr7:150974639-150974654 chr7:150974251-150974264 chr7:150974640-150974653 chr7:150974230-150974239 chr7:150974252-150974266
2	REST	chr7:150973959-150974852	H1-neurons	neurons:	n/a	chr7:150974634-150974647
3	POLR2A	chr7:150973998-150974701	H1-neurons	neurons:	n/a	n/a
4	MAX	chr7:150974062-150974785	H1-hESC	embryonic stem cell:	n/a	chr7:150974524-150974533 chr7:150974522-150974532 chr7:150974523-150974530
5	MAX	chr7:150974098-150974802	A549	lung:	n/a	chr7:150974524-150974533 chr7:150974522-150974532 chr7:150974523-150974530
6	CBX3	chr7:150974161-150974766	K562	blood:	n/a	n/a
7	MAX	chr7:150974073-150974768	H1-hESC	embryonic stem cell:	n/a	chr7:150974524-150974533 chr7:150974522-150974532 chr7:150974523-150974530
8	MAX	chr7:150974051-150974710	ECC-1	luminal epithelium:	n/a	chr7:150974524-150974533 chr7:150974522-150974532 chr7:150974523-150974530
9	EGR1	chr7:150974033-150974790	K562	blood:	n/a	chr7:150974639-150974654 chr7:150974251-150974264 chr7:150974640-150974653 chr7:150974230-150974239 chr7:150974252-150974266
10	MAX	chr7:150974156-150974668	NB4	blood:	n/a	chr7:150974524-150974533 chr7:150974522-150974532 chr7:150974523-150974530
11	ZNF263	chr7:150972799-150975095	HEK293-T-REx	kidney:	n/a	chr7:150973492-150973501 chr7:150973635-150973644
12	KAP1	chr7:150974177-150974701	HEK293	kidney:	n/a	n/a
13	MAX	chr7:150974134-150974714	K562	blood:	n/a	chr7:150974524-150974533 chr7:150974522-150974532 chr7:150974523-150974530
14	POLR2A	chr7:150973977-150974694	H1-neurons	neurons:	n/a	n/a
15	STAT1	chr7:150974052-150974722	Hela-S3	cervix:	n/a	n/a
16	ELF1	chr7:150974156-150974683	K562	blood:	n/a	n/a
17	TEAD4	chr7:150974329-150974697	H1-hESC	embryonic stem cell:	n/a	n/a
18	ELF1	chr7:150974030-150974668	MCF-7	breast:	n/a	n/a
19	EGR1	chr7:150973967-150974710	HCT-116	colon:	n/a	chr7:150974639-150974654 chr7:150974251-150974264 chr7:150974640-150974653 chr7:150974230-150974239 chr7:150974252-150974266
20	MAX	chr7:150974139-150974746	MCF-7	breast:	n/a	chr7:150974524-150974533 chr7:150974522-150974532 chr7:150974523-150974530

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:150972599..150974856-chr7:151038814..151040776,2	MCF-7	breast:
2	chr7:150944159..150946342-chr7:150972887..150975150,2	MCF-7	breast:

Variant related genes	Relation type
SMARCD3	TF binding region
ENSG00000082014	Chromatin interaction
ENSG00000013374	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs2072295	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2072298	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2072299	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs219247	0.82[ASN][1000 genomes]
rs219248	0.80[ASN][1000 genomes]
rs219249	0.80[ASN][1000 genomes]
rs219264	0.80[ASN][1000 genomes]
rs2429246	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv889487	chr7:150922952-150988172	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	73 gene(s)	inside rSNPs	diseases
2	nsv465216	chr7:150951819-150991795	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
3	nsv609036	chr7:150951819-150991795	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
4	nsv1023436	chr7:150967147-150997692	Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
5	nsv1022782	chr7:150970748-150992935	Weak transcription Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
6	esv3403100	chr7:150972819-150975817	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150970800-150975000	Enhancers	Spleen	Spleen
2	chr7:150972800-150974800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
3	chr7:150973200-150974800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr7:150973200-150974800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr7:150973200-150974800	Enhancers	Fetal Heart	heart
6	chr7:150973600-150974800	Active TSS	Pancreatic Islets	Pancreatic Islet
7	chr7:150973600-150974800	Active TSS	Hela-S3	cervix
8	chr7:150973800-150974800	Active TSS	HSMM	muscle
9	chr7:150973800-150974800	Bivalent/Poised TSS	NHLF	lung
10	chr7:150973800-150975000	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr7:150974000-150974800	Bivalent Enhancer	Placenta	Placenta
12	chr7:150974200-150974800	Flanking Active TSS	Brain Germinal Matrix	brain
13	chr7:150974200-150974800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
14	chr7:150974200-150974800	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
15	chr7:150974200-150974800	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
16	chr7:150974200-150974800	Flanking Active TSS	Stomach Smooth Muscle	stomach
17	chr7:150974200-150974800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
18	chr7:150974400-150974800	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
19	chr7:150974400-150974800	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr7:150974400-150974800	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
21	chr7:150974400-150974800	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
22	chr7:150974400-150974800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
23	chr7:150974400-150974800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
24	chr7:150974400-150974800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
25	chr7:150974400-150974800	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
26	chr7:150974400-150974800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
27	chr7:150974400-150974800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
28	chr7:150974400-150974800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
29	chr7:150974400-150974800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
30	chr7:150974400-150974800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
31	chr7:150974400-150974800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
32	chr7:150974400-150974800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
33	chr7:150974400-150974800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr7:150974400-150974800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr7:150974400-150974800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr7:150974400-150974800	Flanking Active TSS	Brain Anterior Caudate	brain
37	chr7:150974400-150974800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
38	chr7:150974400-150974800	Flanking Active TSS	Brain Substantia Nigra	brain
39	chr7:150974400-150974800	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
40	chr7:150974400-150974800	Flanking Active TSS	Colon Smooth Muscle	Colon
41	chr7:150974400-150974800	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
42	chr7:150974400-150974800	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
43	chr7:150974400-150974800	Flanking Active TSS	Fetal Brain Male	brain
44	chr7:150974400-150974800	Flanking Active TSS	Fetal Brain Female	brain
45	chr7:150974400-150974800	Flanking Active TSS	Ovary	ovary
46	chr7:150974400-150975000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
47	chr7:150974400-150975000	Flanking Active TSS	Brain Cingulate Gyrus	brain
48	chr7:150974400-150975000	Flanking Active TSS	Brain Hippocampus Middle	brain
49	chr7:150974400-150975000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
50	chr7:150974400-150975000	Enhancers	Lung	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links