Variant report

Variant	rs73730806
Chromosome Location	chr6:37670714-37670715
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	MAX	chr6:37670616-37670884	NB4	blood:	n/a	chr6:37670766-37670776 chr6:37670713-37670722
2	MYC	chr6:37670704-37670766	NB4	blood:	n/a	chr6:37670713-37670722

No.	Distal block	Cell Line	Cell type
1	chr6:37668297..37671248-chr6:37671352..37673734,2	K562	blood:
2	chr6:37650720..37654671-chr6:37670149..37673658,3	MCF-7	breast:
3	chr6:37670172..37672824-chr6:37782516..37784751,2	K562	blood:
4	chr6:37666379..37669240-chr6:37669601..37672278,2	MCF-7	breast:
5	chr6:37669043..37673675-chr6:37673911..37678816,5	K562	blood:

Variant related genes	Relation type
MDGA1	TF binding region
ENSG00000112139	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs2797783	1.00[EUR][1000 genomes]
rs73413369	1.00[EUR][1000 genomes]
rs73415463	1.00[EUR][1000 genomes]
rs7767232	1.00[EUR][1000 genomes]
rs804815	1.00[EUR][1000 genomes]
rs804818	1.00[EUR][1000 genomes]
rs9462348	1.00[EUR][1000 genomes]
rs9462351	1.00[EUR][1000 genomes]
rs9470658	1.00[EUR][1000 genomes]
rs9470659	1.00[EUR][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	esv2752124	chr6:37416219-37680622	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
2	nsv1028825	chr6:37495154-38278320	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv1024016	chr6:37567651-37981590	Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:37666800-37670800	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
2	chr6:37667200-37672000	Weak transcription	Brain Angular Gyrus	brain
3	chr6:37667200-37672600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr6:37667200-37672600	Weak transcription	Colon Smooth Muscle	Colon
5	chr6:37667200-37672600	Weak transcription	Psoas Muscle	Psoas
6	chr6:37667200-37672800	Weak transcription	Right Atrium	heart
7	chr6:37667400-37672000	Weak transcription	NHLF	lung
8	chr6:37667400-37672600	Weak transcription	Liver	Liver
9	chr6:37667400-37672800	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr6:37667400-37672800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr6:37667600-37672600	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr6:37667600-37672800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr6:37667600-37672800	Weak transcription	Pancreas	Pancrea
14	chr6:37667800-37672000	Weak transcription	Gastric	stomach
15	chr6:37667800-37672400	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr6:37667800-37672800	Weak transcription	Spleen	Spleen
17	chr6:37668000-37671200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr6:37668000-37672600	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr6:37668000-37672800	Weak transcription	Adipose Nuclei	Adipose
20	chr6:37668000-37672800	Weak transcription	Brain Hippocampus Middle	brain
21	chr6:37668200-37672800	Weak transcription	Right Ventricle	heart
22	chr6:37668400-37672000	Weak transcription	NHDF-Ad	bronchial
23	chr6:37668400-37672600	Weak transcription	Fetal Brain Female	brain
24	chr6:37668600-37671800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr6:37668800-37672000	Weak transcription	A549	lung
26	chr6:37668800-37672200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr6:37669000-37672000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr6:37669200-37672000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr6:37669400-37672800	Weak transcription	Fetal Brain Male	brain
30	chr6:37669600-37672400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr6:37669600-37672800	Weak transcription	Primary hematopoietic stem cells	blood
32	chr6:37669600-37672800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr6:37669600-37672800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr6:37670000-37672600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr6:37670000-37672600	Weak transcription	GM12878-XiMat	blood
36	chr6:37670600-37670800	Bivalent Enhancer	H9 Cell Line	embryonic stem cell
37	chr6:37670600-37670800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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