Variant report

Variant	rs183009853
Chromosome Location	chr6:150183968-150183969
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	POLR2A	chr6:150181876-150186422	IMR90	lung:	n/a	n/a
2	RAD21	chr6:150183910-150186688	SK-N-SH	brain:	n/a	chr6:150184360-150184374 chr6:150185705-150185718 chr6:150185250-150185264
3	POLR2A	chr6:150183914-150185821	MCF10A-Er-Src	breast:	n/a	n/a
4	TCF7L2	chr6:150183911-150185124	Hela-S3	cervix:	n/a	n/a
5	MXI1	chr6:150183904-150186614	SK-N-SH	brain:	n/a	n/a
6	CHD1	chr6:150181747-150185902	IMR90	lung:	n/a	chr6:150185305-150185315
7	POLR2A	chr6:150181811-150186475	MCF10A-Er-Src	breast:	n/a	n/a
8	SMC3	chr6:150183916-150186608	SK-N-SH	brain:	n/a	chr6:150185239-150185249

No.	Distal block	Cell Line	Cell type
1	chr6:150183161..150188305-chr6:150206346..150214162,9	MCF-7	breast:
2	chr6:150037075..150038991-chr6:150181496..150184249,2	K562	blood:
3	chr6:150181490..150187274-chr6:150243970..150248410,8	MCF-7	breast:
4	chr6:150183832..150186232-chr6:150215270..150224001,9	MCF-7	breast:
5	chr6:150036146..150038991-chr6:150182749..150185016,3	K562	blood:

Variant related genes	Relation type
ENSG00000268592	TF binding region
ENSG00000164520	Chromatin interaction
ENSG00000223701	Chromatin interaction
ENSG00000131023	Chromatin interaction
ENSG00000203722	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

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	nsv886764	chr6:150114745-150393683	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv517022	chr6:150145001-150426272	Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	esv3437961	chr6:150182459-150187257	Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv823860	chr6:150183482-150186226	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:150173000-150184200	Weak transcription	Aorta	Aorta
2	chr6:150178600-150184000	Weak transcription	Psoas Muscle	Psoas
3	chr6:150180600-150184200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr6:150181200-150184000	Enhancers	Liver	Liver
5	chr6:150182000-150184000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
6	chr6:150182000-150184000	Enhancers	Left Ventricle	heart
7	chr6:150182000-150184000	Enhancers	Stomach Mucosa	stomach
8	chr6:150182000-150186200	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr6:150182200-150184200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr6:150182200-150184200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr6:150182400-150184200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr6:150182600-150184000	Enhancers	Dnd41	blood
13	chr6:150183000-150184000	Enhancers	Brain Substantia Nigra	brain
14	chr6:150183000-150184000	Enhancers	Fetal Brain Male	brain
15	chr6:150183000-150184000	Enhancers	Fetal Kidney	kidney
16	chr6:150183200-150184000	Enhancers	Fetal Heart	heart
17	chr6:150183200-150184000	Enhancers	Fetal Intestine Large	intestine
18	chr6:150183200-150184000	Enhancers	Fetal Intestine Small	intestine
19	chr6:150183200-150184000	Enhancers	Fetal Lung	lung
20	chr6:150183200-150184000	Enhancers	Rectal Mucosa Donor 31	rectum
21	chr6:150183200-150184200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
22	chr6:150183400-150184000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
23	chr6:150183400-150184000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr6:150183400-150184000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr6:150183400-150184000	Enhancers	Primary monocytes fromperipheralblood	blood
26	chr6:150183400-150184000	Enhancers	Brain Hippocampus Middle	brain
27	chr6:150183400-150184000	Weak transcription	Lung	lung
28	chr6:150183400-150184000	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
29	chr6:150183400-150184200	Enhancers	Primary T helper naive cells from peripheral blood	blood
30	chr6:150183400-150184400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
31	chr6:150183400-150184400	Flanking Active TSS	HUVEC	blood vessel
32	chr6:150183600-150184000	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
33	chr6:150183600-150184000	Enhancers	Primary hematopoietic stem cells short term culture	blood
34	chr6:150183600-150184000	Enhancers	Primary T helper cells PMA-I stimulated	--
35	chr6:150183600-150184000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr6:150183600-150184000	Enhancers	Brain Cingulate Gyrus	brain
37	chr6:150183600-150184000	Enhancers	Brain Inferior Temporal Lobe	brain
38	chr6:150183600-150184000	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr6:150183600-150184000	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr6:150183600-150184000	Enhancers	Skeletal Muscle Female	skeletal muscle
41	chr6:150183600-150184000	Active TSS	NH-A	brain
42	chr6:150183600-150184200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
43	chr6:150183600-150184200	Bivalent Enhancer	Fetal Thymus	thymus
44	chr6:150183600-150184200	Weak transcription	Gastric	stomach
45	chr6:150183600-150184400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr6:150183600-150184400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr6:150183600-150184400	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr6:150183600-150185400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr6:150183600-150185600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr6:150183600-150185800	Active TSS	HSMMtube	muscle

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