Variant report

Variant	rs73384135
Chromosome Location	chr12:104903734-104903735
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr12:104903683-104904423	K562	blood:	n/a	n/a
2	YY1	chr12:104903612-104903877	K562	blood:	n/a	n/a
3	TEAD4	chr12:104903631-104904590	K562	blood:	n/a	n/a
4	MAFK	chr12:104903621-104904439	K562	blood:	n/a	n/a
5	IRF1	chr12:104903559-104904322	K562	blood:	n/a	n/a
6	CBX3	chr12:104903350-104904361	K562	blood:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:104900996..104904283-chr12:104904979..104908368,3	K562	blood:
2	chr12:104902137..104904461-chr12:105500550..105502911,2	K562	blood:
3	chr12:104902488..104905052-chr12:104962127..104964192,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000258111	TF binding region
ENSG00000136051	Chromatin interaction
ENSG00000257999	Chromatin interaction
ENSG00000258111	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12301935	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12303997	1.00[AMR][1000 genomes]
rs12314344	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73384139	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832502	chr12:104833729-104908288	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv832504	chr12:104853331-105028245	Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104875400-104904200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:104890000-104903800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr12:104893000-104904400	Genic enhancers	Dnd41	blood
4	chr12:104894400-104903800	Weak transcription	Rectal Smooth Muscle	rectum
5	chr12:104894800-104913000	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr12:104895600-104904000	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr12:104897400-104905600	Enhancers	Primary B cells from peripheral blood	blood
8	chr12:104897600-104903800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr12:104897600-104907800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr12:104898400-104905000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr12:104898800-104905200	Enhancers	Primary T helper cells PMA-I stimulated	--
12	chr12:104898800-104905600	Enhancers	Primary T killer memory cells from peripheral blood	blood
13	chr12:104899600-104903800	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr12:104899600-104904000	Weak transcription	A549	lung
15	chr12:104899800-104904000	Weak transcription	HSMMtube	muscle
16	chr12:104899800-104904000	Weak transcription	HUVEC	blood vessel
17	chr12:104900000-104907200	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr12:104900200-104904600	Enhancers	Primary T cells fromperipheralblood	blood
19	chr12:104900200-104905400	Enhancers	Primary T helper cells fromperipheralblood	blood
20	chr12:104900600-104904600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
21	chr12:104900800-104903800	Weak transcription	Small Intestine	intestine
22	chr12:104900800-104904000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr12:104900800-104904000	Weak transcription	Brain Substantia Nigra	brain
24	chr12:104901000-104903800	Weak transcription	Duodenum Mucosa	Duodenum
25	chr12:104901000-104903800	Weak transcription	Gastric	stomach
26	chr12:104901000-104905600	Enhancers	Primary T helper naive cells from peripheral blood	blood
27	chr12:104901000-104906400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
28	chr12:104901000-104913200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
29	chr12:104901200-104907800	Weak transcription	Right Ventricle	heart
30	chr12:104901200-104919200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr12:104901400-104903800	Weak transcription	Brain Hippocampus Middle	brain
32	chr12:104901400-104903800	Weak transcription	Left Ventricle	heart
33	chr12:104901400-104905000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr12:104901400-104906400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
35	chr12:104901400-104907200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr12:104901400-104907800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr12:104901600-104903800	Weak transcription	Brain Germinal Matrix	brain
38	chr12:104901600-104904800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr12:104901600-104906600	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr12:104901800-104903800	Weak transcription	Fetal Heart	heart
41	chr12:104901800-104904000	Weak transcription	Fetal Brain Female	brain
42	chr12:104901800-104906600	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr12:104901800-104907400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr12:104901800-104909400	Weak transcription	Pancreas	Pancrea
45	chr12:104901800-104920400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr12:104902000-104903800	Weak transcription	Right Atrium	heart
47	chr12:104902000-104906600	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr12:104902000-104907000	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr12:104902000-104907200	Weak transcription	H1 Cell Line	embryonic stem cell
50	chr12:104902000-104915600	Weak transcription	Fetal Brain Male	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links