Variant report

Variant	rs11571893
Chromosome Location	chr6:44354237-44354238
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EP300	chr6:44354125-44354301	K562	blood:	n/a	n/a
2	FOXA1	chr6:44354125-44354401	T-47D	breast:	n/a	chr6:44354239-44354254
3	FOXA1	chr6:44354102-44354371	T-47D	breast:	n/a	chr6:44354239-44354254

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:44213880..44217687-chr6:44354177..44357164,5	K562	blood:
2	chr6:44343981..44346668-chr6:44351933..44354456,2	MCF-7	breast:
3	chr6:44097271..44099374-chr6:44352380..44355163,2	K562	blood:
4	chr6:44345933..44348931-chr6:44350479..44354332,6	K562	blood:
5	chr6:44350111..44351913-chr6:44352677..44355083,2	MCF-7	breast:
6	chr6:44233082..44237547-chr6:44353791..44357282,5	MCF-7	breast:
7	chr6:44231291..44234957-chr6:44353668..44356659,3	K562	blood:
8	chr6:44279579..44281700-chr6:44353800..44356317,2	K562	blood:

No data

Variant related genes	Relation type
CDC5L	TF binding region
ENSG00000096384	Chromatin interaction
ENSG00000146232	Chromatin interaction
ENSG00000124608	Chromatin interaction

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

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

rs_ID	r²[population]
rs11571889	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11571905	1.00[ASN][1000 genomes]
rs992160	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	nsv1019145	chr6:44313576-44421440	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:44341800-44354600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr6:44348800-44354400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr6:44350000-44354600	Weak transcription	Adipose Nuclei	Adipose
4	chr6:44350600-44354400	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr6:44350800-44354800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr6:44351000-44354400	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr6:44352000-44354800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr6:44353200-44354600	Weak transcription	Aorta	Aorta
9	chr6:44353600-44354400	Enhancers	Liver	Liver
10	chr6:44354000-44354400	Enhancers	Lung	lung
11	chr6:44354200-44354400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr6:44354200-44354400	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr6:44354200-44354400	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr6:44354200-44354400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr6:44354200-44354400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr6:44354200-44354400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
17	chr6:44354200-44354400	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr6:44354200-44354400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr6:44354200-44354400	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr6:44354200-44354400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr6:44354200-44354400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr6:44354200-44354400	Enhancers	Brain Angular Gyrus	brain
23	chr6:44354200-44354400	Enhancers	Brain Anterior Caudate	brain
24	chr6:44354200-44354400	Enhancers	Brain Cingulate Gyrus	brain
25	chr6:44354200-44354400	Enhancers	Colon Smooth Muscle	Colon
26	chr6:44354200-44354400	Enhancers	Duodenum Mucosa	Duodenum
27	chr6:44354200-44354400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
28	chr6:44354200-44354400	Enhancers	Pancreas	Pancrea
29	chr6:44354200-44354400	Active TSS	Rectal Mucosa Donor 31	rectum
30	chr6:44354200-44354400	Enhancers	Rectal Smooth Muscle	rectum
31	chr6:44354200-44354400	Enhancers	Skeletal Muscle Male	skeletal muscle
32	chr6:44354200-44354400	Active TSS	Skeletal Muscle Female	skeletal muscle
33	chr6:44354200-44354400	Flanking Active TSS	Stomach Smooth Muscle	stomach
34	chr6:44354200-44354400	Active TSS	Hela-S3	cervix
35	chr6:44354200-44354400	Enhancers	HMEC	breast
36	chr6:44354200-44354400	Enhancers	HSMMtube	muscle
37	chr6:44354200-44354400	Enhancers	HUVEC	blood vessel
38	chr6:44354200-44354400	Enhancers	NHEK	skin
39	chr6:44354200-44354600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
40	chr6:44354200-44354600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr6:44354200-44354600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
42	chr6:44354200-44354600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr6:44354200-44354600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
44	chr6:44354200-44354600	Enhancers	Fetal Heart	heart
45	chr6:44354200-44354600	Enhancers	Fetal Muscle Leg	muscle
46	chr6:44354200-44354600	Enhancers	Fetal Stomach	stomach
47	chr6:44354200-44354600	Enhancers	Left Ventricle	heart
48	chr6:44354200-44354600	Enhancers	Placenta Amnion	Placenta Amnion
49	chr6:44354200-44354600	Enhancers	Sigmoid Colon	Sigmoid Colon
50	chr6:44354200-44354600	Flanking Active TSS	A549	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links