Variant report

Variant	rs73243212
Chromosome Location	chr5:118722514-118722515
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:118722075..118725001-chr5:118726999..118729970,2	K562	blood:
2	chr5:118702494..118705018-chr5:118721326..118723316,2	K562	blood:
3	chr5:118716438..118718887-chr5:118721246..118722849,2	K562	blood:
4	chr5:118720922..118723658-chr5:118726552..118728521,2	MCF-7	breast:
5	chr5:118721777..118723787-chr5:118732955..118735466,2	K562	blood:
6	chr5:118707733..118710354-chr5:118720569..118722851,2	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs35150552	1.00[AMR][1000 genomes]
rs35331622	1.00[AMR][1000 genomes]
rs35416500	1.00[AMR][1000 genomes]
rs36121886	1.00[AMR][1000 genomes]
rs58047446	1.00[AMR][1000 genomes]
rs73243221	0.89[AFR][1000 genomes]
rs73243223	0.89[AFR][1000 genomes]
rs73243298	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73246550	1.00[AMR][1000 genomes]
rs73246563	1.00[AMR][1000 genomes]
rs73246569	1.00[AMR][1000 genomes]
rs73249955	1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030717	chr5:118709310-118836951	Active TSS Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118702800-118723800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr5:118702800-118736000	Weak transcription	Fetal Muscle Leg	muscle
3	chr5:118704400-118722800	Weak transcription	HMEC	breast
4	chr5:118704400-118728400	Weak transcription	Hela-S3	cervix
5	chr5:118704600-118723400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr5:118707600-118754600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr5:118709400-118727800	Weak transcription	Dnd41	blood
8	chr5:118709600-118723400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr5:118711400-118728400	Weak transcription	A549	lung
10	chr5:118711800-118725800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
11	chr5:118712200-118724600	Enhancers	Primary T helper cells fromperipheralblood	blood
12	chr5:118712400-118726400	Enhancers	Primary T killer memory cells from peripheral blood	blood
13	chr5:118712400-118732600	Genic enhancers	Primary B cells from peripheral blood	blood
14	chr5:118712800-118726200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chr5:118714000-118723400	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr5:118714000-118725200	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr5:118714400-118725200	Weak transcription	Aorta	Aorta
18	chr5:118714400-118729200	Weak transcription	HSMMtube	muscle
19	chr5:118715000-118725000	Weak transcription	Fetal Thymus	thymus
20	chr5:118715200-118724800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr5:118715400-118728800	Weak transcription	Placenta	Placenta
22	chr5:118715800-118724800	Weak transcription	Primary hematopoietic stem cells	blood
23	chr5:118716200-118723400	Weak transcription	Stomach Smooth Muscle	stomach
24	chr5:118716200-118724800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr5:118717200-118731000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr5:118717600-118722600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
27	chr5:118718600-118725200	Weak transcription	Stomach Mucosa	stomach
28	chr5:118718600-118726400	Weak transcription	Primary neutrophils fromperipheralblood	blood
29	chr5:118718600-118737600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr5:118720200-118724400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr5:118720400-118722600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr5:118720400-118724400	Enhancers	Fetal Lung	lung
33	chr5:118720600-118722600	Enhancers	Small Intestine	intestine
34	chr5:118720600-118722600	Enhancers	NHDF-Ad	bronchial
35	chr5:118720600-118723600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
36	chr5:118720600-118723600	Enhancers	Fetal Heart	heart
37	chr5:118720600-118724200	Genic enhancers	Primary B cells from cord blood	blood
38	chr5:118720600-118728600	Weak transcription	Thymus	Thymus
39	chr5:118720800-118724800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr5:118721000-118722600	Enhancers	Fetal Kidney	kidney
41	chr5:118721000-118722800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
42	chr5:118721200-118723400	Weak transcription	Colon Smooth Muscle	Colon
43	chr5:118721200-118724800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr5:118721200-118724800	Weak transcription	Duodenum Mucosa	Duodenum
45	chr5:118721200-118725000	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr5:118721200-118725000	Weak transcription	Right Atrium	heart
47	chr5:118721600-118723800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
48	chr5:118721600-118726800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
49	chr5:118721800-118726000	Enhancers	Primary T helper naive cells from peripheral blood	blood
50	chr5:118721800-118728800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links