Variant report

Variant	rs7748520
Chromosome Location	chr6:27864908-27864909
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:15)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:15 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BCLAF1	chr6:27856983-27867279	K562	blood:	n/a	chr6:27863647-27863660 chr6:27863652-27863661 chr6:27862695-27862704 chr6:27857910-27857919
2	POLR2A	chr6:27856821-27873085	K562	blood:	n/a	n/a
3	CEBPD	chr6:27864114-27865743	K562	blood:	n/a	n/a
4	CHD2	chr6:27864603-27865117	K562	blood:	n/a	n/a
5	CCNT2	chr6:27864892-27865078	K562	blood:	n/a	n/a
6	PML	chr6:27864486-27865250	K562	blood:	n/a	n/a
7	HEY1	chr6:27857159-27865219	K562	blood:	n/a	chr6:27863039-27863048 chr6:27863641-27863656 chr6:27863037-27863046 chr6:27864820-27864829
8	POLR2A	chr6:27864775-27865206	H1-hESC	embryonic stem cell:	n/a	n/a
9	ELK1	chr6:27864815-27865185	K562	blood:	n/a	n/a
10	TEAD4	chr6:27857083-27865233	K562	blood:	n/a	n/a
11	POLR2A	chr6:27856294-27871164	K562	blood:	n/a	n/a
12	POLR2A	chr6:27857168-27865248	K562	blood:	n/a	n/a
13	POLR2A	chr6:27856029-27865295	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr6:27856914-27866947	K562	blood:	n/a	n/a
15	NR2F2	chr6:27863889-27866015	K562	blood:	n/a	n/a

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:27863681..27865197-chr6:27913812..27915897,2	K562	blood:
2	chr6:27128393..27129996-chr6:27862563..27865098,2	MCF-7	breast:
3	chr6:27862073..27865049-chr6:28546272..28548839,2	K562	blood:
4	chr6:26054191..26059059-chr6:27859322..27865313,6	K562	blood:
5	chr6:27510787..27512646-chr6:27863086..27864920,2	K562	blood:
6	chr6:27105394..27120060-chr6:27855994..27866393,42	K562	blood:
7	chr6:27127869..27129685-chr6:27862673..27865192,2	K562	blood:
8	chr6:27857690..27865363-chr6:28300493..28306970,14	K562	blood:
9	chr6:27096288..27105112-chr6:27855525..27865082,32	K562	blood:
10	chr6:27759954..27762609-chr6:27862725..27865000,3	MCF-7	breast:
11	chr6:27094943..27118570-chr6:27854106..27868030,101	K562	blood:
12	chr6:26197952..26199936-chr6:27859957..27865215,4	K562	blood:

No data

Variant related genes	Relation type
HIST1H2AM	TF binding region
HIST1H3J	TF binding region
ENSG00000184825	Chromatin interaction
ENSG00000187837	Chromatin interaction
ENSG00000197903	Chromatin interaction
ENSG00000235109	Chromatin interaction
ENSG00000124635	Chromatin interaction
ENSG00000265565	Chromatin interaction
ENSG00000198339	Chromatin interaction
ENSG00000197409	Chromatin interaction
ENSG00000196866	Chromatin interaction
ENSG00000196787	Chromatin interaction
ENSG00000197846	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs6913038	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs6920477	1.00[CEU][hapmap]
rs7742529	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];0.85[TSI][hapmap];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[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	nsv432858	chr6:27719375-28011652	Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	387 gene(s)	inside rSNPs	diseases
2	nsv1022173	chr6:27734824-27959408	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	379 gene(s)	inside rSNPs	diseases
3	nsv883512	chr6:27748631-27969004	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	379 gene(s)	inside rSNPs	diseases
4	nsv601208	chr6:27810626-27969004	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	237 gene(s)	inside rSNPs	diseases
5	nsv601209	chr6:27849676-27869321	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	194 gene(s)	inside rSNPs	diseases
6	nsv1022651	chr6:27864217-28017997	Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:27863600-27865400	Enhancers	Placenta	Placenta
2	chr6:27863600-27866200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr6:27863800-27865200	Flanking Active TSS	GM12878-XiMat	blood
4	chr6:27863800-27870000	Weak transcription	Primary T cells from cord blood	blood
5	chr6:27863800-27870000	Weak transcription	Adipose Nuclei	Adipose
6	chr6:27863800-27870400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr6:27864000-27865400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr6:27864000-27865600	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr6:27864000-27869400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr6:27864000-27869400	Weak transcription	HMEC	breast
11	chr6:27864000-27869600	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr6:27864000-27870000	Weak transcription	NHEK	skin
13	chr6:27864000-27870200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr6:27864200-27865000	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr6:27864200-27867000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr6:27864200-27867400	Transcr. at gene 5' and 3'	K562	blood
17	chr6:27864200-27870000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr6:27864200-27870400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr6:27864400-27865200	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr6:27864400-27865400	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr6:27864400-27865600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr6:27864400-27869600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr6:27864400-27870000	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr6:27864400-27870000	Weak transcription	Primary monocytes fromperipheralblood	blood
25	chr6:27864400-27870000	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr6:27864400-27870000	Weak transcription	Fetal Intestine Small	intestine
27	chr6:27864600-27865200	Enhancers	Dnd41	blood
28	chr6:27864600-27867400	Enhancers	Hela-S3	cervix
29	chr6:27864600-27867800	Weak transcription	HepG2	liver
30	chr6:27864600-27869400	Weak transcription	A549	lung
31	chr6:27864600-27870000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr6:27864600-27870000	Weak transcription	Primary hematopoietic stem cells	blood
33	chr6:27864600-27870000	Weak transcription	Fetal Kidney	kidney
34	chr6:27864600-27870000	Weak transcription	Monocytes-CD14+_RO01746	blood
35	chr6:27864800-27866000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr6:27864800-27869600	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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