Variant report

Variant	rs73344124
Chromosome Location	chr8:114449272-114449273
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:10)
CpG islands
(count:183)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:10 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TBP	chr8:114448995-114449298	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr8:114448761-114449803	SK-N-MC	brain:	n/a	n/a
3	CHD1	chr8:114449087-114449346	H1-hESC	embryonic stem cell:	n/a	n/a
4	FOXP2	chr8:114448985-114449325	SK-N-MC	brain:	n/a	n/a
5	WRNIP1	chr8:114449272-114449587	GM12878	blood:	n/a	n/a
6	TCF7L2	chr8:114448911-114449608	PANC-1	pancreas:	n/a	n/a
7	POLR2A	chr8:114448922-114449699	H1-neurons	neurons:	n/a	n/a
8	POLR2A	chr8:114448948-114450279	SK-N-MC	brain:	n/a	n/a
9	POLR2A	chr8:114448771-114449730	H1-neurons	neurons:	n/a	n/a
10	JUND	chr8:114449163-114449437	H1-hESC	embryonic stem cell:	n/a	n/a

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:114449243-114449293	HRPEpiC	eye:	n/a
2	chr8:114449243-114449293	GM12878	blood:	n/a
3	chr8:114449272-114449322	HCPEpiC	choroid plexus:	n/a
4	chr8:114449272-114449322	AG04450	lung:	fetal
5	chr8:114449272-114449322	GM12892	blood:	n/a
6	chr8:114449272-114449322	SK-N-SH	brain:	n/a
7	chr8:114449226-114449276	SK-N-MC	brain:	n/a
8	chr8:114449243-114449293	NB4	blood:	n/a
9	chr8:114449272-114449322	AG09309	skin:	n/a
10	chr8:114449226-114449276	HMEC	breast:	n/a
11	chr8:114449226-114449276	T-47D	breast:	n/a
12	chr8:114449243-114449293	GM12891	blood:	n/a
13	chr8:114449243-114449293	HCF	heart:	n/a
14	chr8:114449226-114449276	GM19239	blood:	n/a
15	chr8:114449226-114449276	Caco-2	colon:	n/a
16	chr8:114449226-114449276	NB4	blood:	n/a
17	chr8:114449272-114449322	AoSMC	blood vessel:	n/a
18	chr8:114449226-114449276	HEEpiC	esophagus:	n/a
19	chr8:114449226-114449276	U87	brain:	n/a
20	chr8:114449243-114449293	Caco-2	colon:	n/a
21	chr8:114449272-114449322	AG10803	skin:	n/a
22	chr8:114449243-114449293	ovcar-3	ovarian:	n/a
23	chr8:114449226-114449276	GM06990	blood:	n/a
24	chr8:114449272-114449322	HNPCEpiC	eye:	n/a
25	chr8:114449272-114449322	U87	brain:	n/a
26	chr8:114449243-114449293	H1-hESC	embryonic stem cell:	embryo
27	chr8:114449243-114449293	LNCaP	prostate:	n/a
28	chr8:114449272-114449322	A549	lung:	n/a
29	chr8:114449226-114449276	HRCEpiC	kidney:	n/a
30	chr8:114449243-114449293	U87	brain:	n/a
31	chr8:114449243-114449293	HNPCEpiC	eye:	n/a
32	chr8:114449226-114449276	ECC-1	luminal epithelium:	n/a
33	chr8:114449243-114449293	HPAEpiC	pulmonary alveolar:	n/a
34	chr8:114449243-114449293	NT2-D1	testis:	n/a
35	chr8:114449243-114449293	AG04449	skin:	fetal
36	chr8:114449243-114449293	SKMC	muscle:	n/a
37	chr8:114449243-114449293	AG10803	skin:	n/a
38	chr8:114449272-114449322	IMR90	lung:	fetal
39	chr8:114449226-114449276	HCM	heart:	n/a
40	chr8:114449243-114449293	HepG2	liver:	n/a
41	chr8:114449272-114449322	ECC-1	luminal epithelium:	n/a
42	chr8:114449272-114449322	HMEC	breast:	n/a
43	chr8:114449243-114449293	PFSK-1	brain:	n/a
44	chr8:114449243-114449293	HCT-116	colon:	n/a
45	chr8:114449226-114449276	GM12891	blood:	n/a
46	chr8:114449243-114449293	RPTEC	kidney:	n/a
47	chr8:114449226-114449276	HNPCEpiC	eye:	n/a
48	chr8:114449226-114449276	HRPEpiC	eye:	n/a
49	chr8:114449243-114449293	AG09309	skin:	n/a
50	chr8:114449226-114449276	ProgFib	skin:	n/a

No data

Variant related genes	Relation type
CSMD3	TF binding region
CSMD3	CpG island

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs16884599	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16884710	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16884721	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73341985	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73344140	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817379	chr8:114338391-115011632	Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	esv2754463	chr8:114353649-114501547	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	esv2761461	chr8:114420164-114462173	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv831429	chr8:114438561-114595565	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:114443800-114450200	Active TSS	Brain Inferior Temporal Lobe	brain
2	chr8:114443800-114450400	Active TSS	Brain Substantia Nigra	brain
3	chr8:114444200-114450800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
4	chr8:114444400-114450200	Bivalent/Poised TSS	Fetal Intestine Small	intestine
5	chr8:114444400-114450600	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
6	chr8:114446400-114450600	Active TSS	Brain Anterior Caudate	brain
7	chr8:114446400-114451200	Active TSS	Brain Angular Gyrus	brain
8	chr8:114446600-114450600	Active TSS	Brain Germinal Matrix	brain
9	chr8:114446800-114449600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr8:114447000-114449400	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
11	chr8:114447000-114450800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
12	chr8:114447400-114449600	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
13	chr8:114447400-114449600	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
14	chr8:114447400-114449800	Weak transcription	Aorta	Aorta
15	chr8:114447400-114450200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
16	chr8:114447600-114449600	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
17	chr8:114447800-114450200	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
18	chr8:114447800-114450400	Weak transcription	Pancreas	Pancrea
19	chr8:114448400-114449400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr8:114448400-114450200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr8:114448400-114450600	Active TSS	Fetal Brain Male	brain
22	chr8:114448600-114449600	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
23	chr8:114448600-114449800	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
24	chr8:114448600-114450200	Bivalent/Poised TSS	Fetal Lung	lung
25	chr8:114448600-114450400	Active TSS	Brain Hippocampus Middle	brain
26	chr8:114448800-114449400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
27	chr8:114448800-114449400	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
28	chr8:114448800-114449600	Flanking Bivalent TSS/Enh	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr8:114448800-114450000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr8:114448800-114450000	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
31	chr8:114448800-114450400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr8:114448800-114450400	Active TSS	Fetal Brain Female	brain
33	chr8:114448800-114450800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr8:114448800-114450800	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr8:114448800-114450800	Bivalent/Poised TSS	Fetal Intestine Large	intestine
36	chr8:114448800-114451000	Bivalent/Poised TSS	Fetal Kidney	kidney
37	chr8:114448800-114451200	Active TSS	Brain Cingulate Gyrus	brain
38	chr8:114449000-114449400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
39	chr8:114449000-114449400	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
40	chr8:114449000-114449600	Bivalent/Poised TSS	NH-A	brain
41	chr8:114449000-114449800	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
42	chr8:114449000-114450000	Bivalent Enhancer	Primary hematopoietic stem cells	blood
43	chr8:114449000-114450000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr8:114449000-114450000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr8:114449000-114450200	Bivalent/Poised TSS	Muscle Satellite Cultured Cells	--
46	chr8:114449000-114450200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
47	chr8:114449000-114450400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr8:114449000-114451000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
49	chr8:114449200-114449400	Active TSS	Cortex derived primary cultured neurospheres	brain
50	chr8:114449200-114449400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links