Variant report

Variant	rs62468899
Chromosome Location	chr7:126894392-126894393
allele	G/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	chr7:126894360-126894510	AG10803	skin:	n/a	n/a
2	ZBTB7A	chr7:126893791-126894486	ECC-1	luminal epithelium:	n/a	n/a
3	CTCF	chr7:126891512-126894684	SK-N-SH	brain:	n/a	chr7:126894124-126894145 chr7:126892213-126892222 chr7:126892525-126892543 chr7:126893829-126893842 chr7:126893041-126893054 chr7:126894129-126894147 chr7:126892528-126892538 chr7:126892531-126892540 chr7:126892858-126892871
4	ZBTB7A	chr7:126893540-126894460	ECC-1	luminal epithelium:	n/a	n/a
5	SMC3	chr7:126892794-126894591	SK-N-SH	brain:	n/a	chr7:126894160-126894170 chr7:126894545-126894553
6	RAD21	chr7:126891840-126895028	SK-N-SH	brain:	n/a	chr7:126894675-126894688 chr7:126893040-126893054 chr7:126892861-126892873 chr7:126894127-126894146
7	SPI1	chr7:126894387-126894650	K562	blood:	n/a	n/a
8	ZBTB7A	chr7:126893907-126894452	K562	blood:	n/a	n/a
9	CTCF	chr7:126893805-126894427	HCT-116	colon:	n/a	chr7:126894124-126894145 chr7:126893829-126893842 chr7:126894129-126894147
10	RAD21	chr7:126893676-126894474	HCT-116	colon:	n/a	chr7:126894127-126894146
11	ZNF263	chr7:126891685-126894553	HEK293-T-REx	kidney:	n/a	chr7:126894008-126894017 chr7:126893184-126893193 chr7:126894538-126894547
12	CTCF	chr7:126893601-126894442	HCT-116	colon:	n/a	chr7:126894124-126894145 chr7:126893829-126893842 chr7:126894129-126894147
13	HA-E2F1	chr7:126892635-126895180	MCF-7	breast:	n/a	chr7:126893745-126893754 chr7:126893742-126893754 chr7:126894160-126894170 chr7:126893359-126893368 chr7:126893156-126893167 chr7:126893356-126893368 chr7:126893680-126893690
14	EP300	chr7:126892612-126894475	SK-N-SH	brain:	n/a	chr7:126893519-126893535 chr7:126893525-126893541 chr7:126893103-126893119 chr7:126893045-126893054
15	JUND	chr7:126893921-126894557	H1-hESC	embryonic stem cell:	n/a	n/a
16	RAD21	chr7:126893785-126894455	HCT-116	colon:	n/a	chr7:126894127-126894146
17	SPI1	chr7:126894313-126894780	HL-60	blood:	n/a	chr7:126894704-126894717
18	CTCF	chr7:126893482-126894435	GM12878	blood:	n/a	chr7:126894124-126894145 chr7:126893829-126893842 chr7:126894129-126894147
19	GATA2	chr7:126893507-126894730	SH-SY5Y	brain:	n/a	chr7:126894226-126894235 chr7:126894228-126894235 chr7:126894226-126894236 chr7:126894225-126894237 chr7:126893831-126893841
20	CTCF	chr7:126893263-126894564	A549	lung:	n/a	chr7:126894124-126894145 chr7:126893829-126893842 chr7:126894129-126894147
21	CTCF	chr7:126893744-126894569	K562	blood:	n/a	chr7:126894124-126894145 chr7:126893829-126893842 chr7:126894129-126894147

No.	Distal block	Cell Line	Cell type
1	chr7:126892951..126894660-chr7:127031651..127034423,2	MCF-7	breast:
2	chr7:126894392..126896260-chr7:126987799..126989472,2	K562	blood:
3	chr7:126891429..126894759-chr7:127030328..127033331,3	K562	blood:
4	chr7:126892205..126895115-chr7:127030974..127032697,2	MCF-7	breast:
5	chr7:126747288..126748236-chr7:126893729..126894723,2	K562	blood:
6	chr7:126884896..126891192-chr7:126891657..126895737,6	K562	blood:
7	chr7:126893732..126895403-chr7:127004899..127007535,2	K562	blood:

Variant related genes	Relation type
GRM8	TF binding region
ENSG00000179603	Chromatin interaction
ENSG00000048405	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs17865092	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17866960	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61753761	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62468895	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62468901	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]

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	nsv889189	chr7:126699088-126963028	Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv464712	chr7:126881029-126908258	Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv608380	chr7:126881029-126908258	Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv819682	chr7:126890804-126895155	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:126890200-126894400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
2	chr7:126890600-126894400	Active TSS	Brain Angular Gyrus	brain
3	chr7:126890800-126894400	Active TSS	Brain Inferior Temporal Lobe	brain
4	chr7:126891400-126894400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
5	chr7:126891400-126894600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
6	chr7:126891600-126894400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
7	chr7:126891600-126894600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr7:126892400-126894400	Active TSS	Brain Anterior Caudate	brain
9	chr7:126892800-126894400	Active TSS	Cortex derived primary cultured neurospheres	brain
10	chr7:126892800-126894400	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr7:126892800-126894400	Bivalent/Poised TSS	Brain Germinal Matrix	brain
12	chr7:126892800-126894400	Active TSS	Brain Hippocampus Middle	brain
13	chr7:126892800-126894400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
14	chr7:126892800-126894400	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
15	chr7:126892800-126894400	Active TSS	Rectal Mucosa Donor 29	rectum
16	chr7:126892800-126894400	Bivalent/Poised TSS	A549	lung
17	chr7:126892800-126894600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
18	chr7:126893000-126894400	Enhancers	Fetal Brain Male	brain
19	chr7:126893400-126894400	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr7:126893600-126894400	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
21	chr7:126893600-126894400	Bivalent/Poised TSS	Primary T cells from cord blood	blood
22	chr7:126893600-126894400	Bivalent/Poised TSS	Monocytes-CD14+_RO01746	blood
23	chr7:126894000-126894400	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
24	chr7:126894200-126894400	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
25	chr7:126894200-126894400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr7:126894200-126894400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
27	chr7:126894200-126894400	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
28	chr7:126894200-126894400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
29	chr7:126894200-126894400	Bivalent/Poised TSS	Primary T helper naive cells fromperipheralblood	blood
30	chr7:126894200-126894400	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
31	chr7:126894200-126894400	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
32	chr7:126894200-126894400	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
33	chr7:126894200-126894400	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
34	chr7:126894200-126894400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr7:126894200-126894400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr7:126894200-126894400	Enhancers	Brain Cingulate Gyrus	brain
37	chr7:126894200-126894400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
38	chr7:126894200-126894400	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
39	chr7:126894200-126894400	Bivalent Enhancer	Fetal Stomach	stomach
40	chr7:126894200-126894400	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
41	chr7:126894200-126894400	Bivalent Enhancer	Osteobl	bone
42	chr7:126894200-126894600	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
43	chr7:126894200-126894600	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
44	chr7:126894200-126894600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr7:126894200-126894600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
46	chr7:126894200-126894600	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
47	chr7:126894200-126894600	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
48	chr7:126894200-126894600	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
49	chr7:126894200-126894600	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
50	chr7:126894200-126894600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links