Variant report

Variant	rs72831034
Chromosome Location	chr6:13679167-13679168
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:34)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:34 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:13678602-13679559	K562	blood:	n/a	n/a
2	GATA1	chr6:13677734-13679868	K562	blood:	n/a	n/a
3	ARID3A	chr6:13678173-13679433	K562	blood:	n/a	n/a
4	CREB1	chr6:13678117-13679282	K562	blood:	n/a	n/a
5	CUX1	chr6:13678413-13679735	K562	blood:	n/a	n/a
6	TEAD4	chr6:13677818-13679494	K562	blood:	n/a	n/a
7	POLR2A	chr6:13678619-13679230	K562	blood:	n/a	n/a
8	MYC	chr6:13678504-13679391	K562	blood:	n/a	n/a
9	POLR2A	chr6:13678557-13679199	K562	blood:	n/a	n/a
10	POLR2A	chr6:13678082-13681825	K562	blood:	n/a	n/a
11	TRIM28	chr6:13678040-13679434	K562	blood:	n/a	n/a
12	NR2F2	chr6:13677913-13679280	K562	blood:	n/a	n/a
13	TEAD4	chr6:13677960-13679845	K562	blood:	n/a	n/a
14	BCLAF1	chr6:13678453-13679431	K562	blood:	n/a	n/a
15	SMARCB1	chr6:13678414-13679421	K562	blood:	n/a	n/a
16	IRF1	chr6:13678141-13679673	K562	blood:	n/a	chr6:13679403-13679419
17	STAT5A	chr6:13678035-13679172	K562	blood:	n/a	n/a
18	PML	chr6:13678356-13679513	K562	blood:	n/a	n/a
19	IRF1	chr6:13677638-13679861	K562	blood:	n/a	chr6:13679403-13679419
20	EP300	chr6:13678404-13679304	K562	blood:	n/a	chr6:13678554-13678564
21	CEBPB	chr6:13678231-13679267	K562	blood:	n/a	n/a
22	ATF3	chr6:13678506-13679232	K562	blood:	n/a	n/a
23	POLR2A	chr6:13678609-13679347	K562	blood:	n/a	n/a
24	EP300	chr6:13678432-13679350	GM12878	blood:	n/a	chr6:13678554-13678564
25	SMARCA4	chr6:13677714-13679421	K562	blood:	n/a	n/a
26	GATA1	chr6:13677837-13679232	PBDE	blood:	n/a	n/a
27	EP300	chr6:13678117-13679484	K562	blood:	n/a	chr6:13678554-13678564
28	NR2F2	chr6:13678407-13679303	K562	blood:	n/a	n/a
29	POLR2A	chr6:13678451-13679208	K562	blood:	n/a	n/a
30	POLR2A	chr6:13678558-13679240	K562	blood:	n/a	n/a
31	PML	chr6:13678005-13679620	K562	blood:	n/a	n/a
32	JUN	chr6:13678275-13680011	K562	blood:	n/a	chr6:13678597-13678609
33	TAL1	chr6:13678361-13679521	K562	blood:	n/a	n/a
34	TBL1XR1	chr6:13677849-13679508	K562	blood:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:13574510..13576795-chr6:13678124..13681559,3	K562	blood:
2	chr6:13678229..13680243-chr6:13687121..13689516,2	MCF-7	breast:
3	chr6:13676682..13679479-chr6:13733229..13734919,2	K562	blood:
4	chr6:13572493..13576795-chr6:13677578..13681816,6	K562	blood:
5	chr6:13658437..13687167-chr6:13707669..13717356,51	K562	blood:
6	chr6:13677099..13683232-chr6:13708060..13717356,16	K562	blood:
7	chr6:13612983..13618304-chr6:13679034..13683117,5	K562	blood:

No data

Variant related genes	Relation type
RNU7-91P	TF binding region
ENSG00000225921	Chromatin interaction
ENSG00000124523	Chromatin interaction
ENSG00000010017	Chromatin interaction
ENSG00000261071	Chromatin interaction

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

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

rs_ID	r²[population]
rs56163379	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72829104	1.00[AMR][1000 genomes]

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	nsv532021	chr6:13232627-13805381	Active TSS Genic enhancers Strong transcription Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv1019422	chr6:13622143-13694781	Strong transcription ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	11 gene(s)	inside rSNPs	diseases
3	nsv1026597	chr6:13634669-13689882	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:13620600-13691000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr6:13654600-13689800	Weak transcription	Osteobl	bone
3	chr6:13657000-13680200	Weak transcription	HSMM	muscle
4	chr6:13660800-13688000	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr6:13665600-13695200	Weak transcription	NHLF	lung
6	chr6:13667600-13695800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr6:13668200-13694600	Weak transcription	NHDF-Ad	bronchial
8	chr6:13668600-13684200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr6:13668800-13694800	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr6:13670000-13701600	Weak transcription	Esophagus	oesophagus
11	chr6:13670600-13680800	Weak transcription	Fetal Thymus	thymus
12	chr6:13672400-13688200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr6:13673000-13680800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr6:13673400-13695800	Weak transcription	Brain Angular Gyrus	brain
15	chr6:13674400-13680600	Weak transcription	Fetal Stomach	stomach
16	chr6:13675000-13679800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr6:13675200-13680800	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr6:13675200-13689600	Weak transcription	Aorta	Aorta
19	chr6:13675400-13681000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr6:13677200-13679600	Enhancers	Primary T helper cells PMA-I stimulated	--
21	chr6:13677400-13688800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr6:13677400-13693200	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr6:13677600-13681000	Weak transcription	Primary T cells from cord blood	blood
24	chr6:13677800-13680000	Weak transcription	NH-A	brain
25	chr6:13677800-13699200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr6:13678000-13679200	ZNF genes & repeats	Brain Germinal Matrix	brain
27	chr6:13678000-13679200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr6:13678000-13679600	Enhancers	HUVEC	blood vessel
29	chr6:13678000-13681400	Strong transcription	Dnd41	blood
30	chr6:13678000-13687200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
31	chr6:13678200-13679400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr6:13678200-13680200	Weak transcription	Primary B cells from cord blood	blood
33	chr6:13678200-13681400	Weak transcription	Monocytes-CD14+_RO01746	blood
34	chr6:13678200-13681600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
35	chr6:13678200-13692400	Enhancers	Primary T helper cells fromperipheralblood	blood
36	chr6:13678400-13679200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
37	chr6:13678400-13679400	Enhancers	Primary hematopoietic stem cells short term culture	blood
38	chr6:13678400-13680200	Active TSS	K562	blood
39	chr6:13678400-13681200	Weak transcription	Primary neutrophils fromperipheralblood	blood
40	chr6:13678400-13681600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
41	chr6:13678600-13679200	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr6:13678600-13679200	Enhancers	iPS-20b Cell Line	embryonic stem cell
43	chr6:13678600-13679400	Enhancers	HUES64 Cell Line	embryonic stem cell
44	chr6:13678600-13679600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr6:13678800-13679400	Enhancers	HUES6 Cell Line	embryonic stem cell
46	chr6:13678800-13680600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr6:13678800-13681000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr6:13678800-13681400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr6:13678800-13681400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr6:13678800-13688800	Weak transcription	Fetal Muscle Leg	muscle

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