Variant report

Variant	rs144520444
Chromosome Location	chr5:75839972-75839973
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	EBF1	chr5:75839964-75840457	GM12878	blood:	n/a	chr5:75840109-75840120
2	POLR2A	chr5:75838483-75840557	PBDE	blood:	n/a	n/a
3	WRNIP1	chr5:75839886-75840432	GM12878	blood:	n/a	n/a
4	MAZ	chr5:75839888-75840381	HepG2	liver:	n/a	chr5:75839967-75839976
5	SMC3	chr5:75839628-75840700	SK-N-SH	brain:	n/a	chr5:75840325-75840339
6	RAD21	chr5:75839690-75840758	SK-N-SH	brain:	n/a	chr5:75840321-75840340
7	CTCF	chr5:75839813-75840696	SK-N-SH	brain:	n/a	chr5:75840111-75840120 chr5:75840318-75840339
8	CTCF	chr5:75839606-75840679	A549	lung:	n/a	chr5:75840111-75840120 chr5:75840318-75840339
9	CTCF	chr5:75839900-75840050	GM12873	blood:	n/a	n/a
10	EBF1	chr5:75839945-75840299	GM12878	blood:	n/a	chr5:75840109-75840120
11	RAD21	chr5:75839893-75840565	H1-hESC	embryonic stem cell:	n/a	chr5:75840321-75840340

No.	Distal block	Cell Line	Cell type
1	chr5:75698659..75699503-chr5:75839829..75840376,2	K562	blood:
2	chr5:75633886..75634436-chr5:75839825..75840735,2	K562	blood:
3	chr5:75698517..75699563-chr5:75839811..75840781,6	MCF-7	breast:
4	chr5:75633417..75634381-chr5:75839891..75840630,3	MCF-7	breast:
5	chr5:75633462..75634419-chr5:75839412..75840924,7	MCF-7	breast:

Variant related genes	Relation type
IQGAP2	TF binding region
ENSG00000145703	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022032	chr5:75785106-75914003	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv598679	chr5:75823965-75914729	Flanking Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1023953	chr5:75831037-75913784	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv1026257	chr5:75831037-75914003	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv1016823	chr5:75831037-75915905	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv1019669	chr5:75836365-76477788	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
7	nsv598680	chr5:75839165-75914729	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:75826800-75840000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr5:75830000-75841600	Enhancers	Stomach Mucosa	stomach
3	chr5:75832200-75840000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr5:75835600-75871200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr5:75837400-75840600	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr5:75837400-75842800	Enhancers	Liver	Liver
7	chr5:75837800-75840600	Enhancers	Fetal Lung	lung
8	chr5:75837800-75841200	Enhancers	Placenta	Placenta
9	chr5:75838000-75840400	Enhancers	Fetal Thymus	thymus
10	chr5:75838000-75840600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr5:75838200-75840200	Enhancers	Small Intestine	intestine
12	chr5:75838200-75840600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
13	chr5:75838200-75841400	Enhancers	Primary neutrophils fromperipheralblood	blood
14	chr5:75838400-75840200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
15	chr5:75838400-75840200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
16	chr5:75838400-75840600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
17	chr5:75838400-75840600	Enhancers	Fetal Kidney	kidney
18	chr5:75838600-75840000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
19	chr5:75838600-75840200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
20	chr5:75838600-75840400	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr5:75838600-75840400	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr5:75838600-75840600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
23	chr5:75838800-75840200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
24	chr5:75838800-75840200	Enhancers	Gastric	stomach
25	chr5:75839000-75840000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr5:75839000-75840200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
27	chr5:75839000-75840400	Enhancers	H1 Cell Line	embryonic stem cell
28	chr5:75839000-75840400	Enhancers	Lung	lung
29	chr5:75839000-75840600	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr5:75839000-75840600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr5:75839000-75841600	Enhancers	Rectal Mucosa Donor 31	rectum
32	chr5:75839200-75840000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr5:75839200-75840000	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
34	chr5:75839200-75840200	Enhancers	Sigmoid Colon	Sigmoid Colon
35	chr5:75839200-75840600	Enhancers	Pancreas	Pancrea
36	chr5:75839200-75840800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
37	chr5:75839200-75841400	Enhancers	Fetal Intestine Small	intestine
38	chr5:75839400-75840200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
39	chr5:75839400-75840200	Enhancers	Rectal Mucosa Donor 29	rectum
40	chr5:75839400-75840400	Enhancers	Primary B cells from peripheral blood	blood
41	chr5:75839400-75840400	Enhancers	Fetal Intestine Large	intestine
42	chr5:75839400-75840600	Enhancers	Primary B cells from cord blood	blood
43	chr5:75839400-75840600	Enhancers	Primary T cells from cord blood	blood
44	chr5:75839400-75840600	Enhancers	K562	blood
45	chr5:75839400-75840600	Enhancers	Monocytes-CD14+_RO01746	blood
46	chr5:75839400-75842200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr5:75839400-75842400	Weak transcription	Adipose Nuclei	Adipose
48	chr5:75839400-75842600	Weak transcription	Thymus	Thymus
49	chr5:75839600-75840000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr5:75839600-75840000	Weak transcription	H9 Cell Line	embryonic stem cell

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