Variant report

Variant	rs72753031
Chromosome Location	chr1:225705445-225705446
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr1:225705400-225705550	HEEpiC	esophagus:	n/a	n/a
2	CEBPB	chr1:225705442-225705652	A549	lung:	n/a	n/a
3	SPI1	chr1:225705234-225705704	HL-60	blood:	n/a	n/a
4	USF2	chr1:225705333-225705601	H1-hESC	embryonic stem cell:	n/a	n/a
5	CEBPB	chr1:225705406-225705625	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr1:225704786..225708350-chr1:225708492..225710197,3	K562	blood:
2	chr1:225703740..225706678-chr1:225717251..225719258,2	K562	blood:
3	chr1:225662457..225663199-chr1:225705258..225705789,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENAH	TF binding region

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

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs55979993	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72753046	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72753066	1.00[AFR][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	nsv832714	chr1:225592333-225805396	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS 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 target site	20 gene(s)	inside rSNPs	diseases
2	nsv4720	chr1:225673218-225718009	Genic enhancers Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:225688800-225711400	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr1:225689200-225721000	Weak transcription	Duodenum Mucosa	Duodenum
3	chr1:225691000-225706200	Weak transcription	Primary B cells from cord blood	blood
4	chr1:225695600-225721200	Weak transcription	Fetal Kidney	kidney
5	chr1:225697200-225711200	Weak transcription	Fetal Heart	heart
6	chr1:225697200-225716600	Weak transcription	Right Atrium	heart
7	chr1:225697400-225715400	Weak transcription	Rectal Smooth Muscle	rectum
8	chr1:225697400-225722600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr1:225697800-225706200	Weak transcription	Psoas Muscle	Psoas
10	chr1:225697800-225706800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr1:225697800-225707800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr1:225697800-225708600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr1:225698600-225721000	Weak transcription	Small Intestine	intestine
14	chr1:225700000-225726400	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr1:225700000-225726400	Weak transcription	HMEC	breast
16	chr1:225700400-225708400	Weak transcription	Dnd41	blood
17	chr1:225700600-225706800	Weak transcription	Brain Germinal Matrix	brain
18	chr1:225700800-225707000	Weak transcription	Liver	Liver
19	chr1:225701200-225707800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr1:225701400-225727200	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr1:225701400-225744400	Weak transcription	HUVEC	blood vessel
22	chr1:225701400-225747000	Weak transcription	Hela-S3	cervix
23	chr1:225701800-225710800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr1:225703400-225706000	Strong transcription	HSMM	muscle
25	chr1:225703600-225705800	Strong transcription	Fetal Brain Female	brain
26	chr1:225703600-225707600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr1:225703800-225705600	Strong transcription	Stomach Smooth Muscle	stomach
28	chr1:225703800-225705800	Strong transcription	Fetal Muscle Leg	muscle
29	chr1:225703800-225706000	Strong transcription	Fetal Intestine Large	intestine
30	chr1:225703800-225707400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
31	chr1:225703800-225707400	Strong transcription	Fetal Muscle Trunk	muscle
32	chr1:225703800-225707600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr1:225704000-225705800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr1:225704000-225705800	Strong transcription	Muscle Satellite Cultured Cells	--
35	chr1:225704000-225705800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr1:225704000-225706000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr1:225704000-225706800	Weak transcription	Brain Substantia Nigra	brain
38	chr1:225704000-225706800	Genic enhancers	A549	lung
39	chr1:225704000-225707600	Strong transcription	Fetal Lung	lung
40	chr1:225704000-225707600	Strong transcription	Osteobl	bone
41	chr1:225704200-225706800	Weak transcription	Brain Anterior Caudate	brain
42	chr1:225704200-225706800	Weak transcription	Brain Cingulate Gyrus	brain
43	chr1:225704200-225707200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr1:225704200-225721000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr1:225704400-225705600	Strong transcription	HUES64 Cell Line	embryonic stem cell
46	chr1:225704400-225706000	Strong transcription	Fetal Stomach	stomach
47	chr1:225704400-225707600	Strong transcription	Cortex derived primary cultured neurospheres	brain
48	chr1:225704400-225711000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr1:225704600-225705600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr1:225704600-225705600	Strong transcription	Placenta	Placenta

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links