Variant report

Variant	rs708205
Chromosome Location	chr12:31522408-31522409
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	KAP1	chr12:31521568-31522423	HEK293	kidney:	n/a	n/a
2	CHD1	chr12:31521706-31524671	H1-hESC	embryonic stem cell:	n/a	n/a
3	MYC	chr12:31521993-31522790	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr12:31521505-31524812	H1-hESC	embryonic stem cell:	n/a	n/a
5	TBP	chr12:31522250-31523169	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr12:31522338-31522448	H1-hESC	embryonic stem cell:	n/a	n/a
7	KAP1	chr12:31521482-31524528	U2OS	brain:	n/a	n/a
8	SP1	chr12:31521943-31522483	H1-hESC	embryonic stem cell:	n/a	chr12:31521973-31521983 chr12:31522140-31522149 chr12:31522139-31522153 chr12:31522246-31522257

Variant related genes	Relation type
ENSG00000256232	TF binding region

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

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

rs_ID	r²[population]
rs12814677	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2568901	0.82[ASN][1000 genomes]
rs2947173	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs793190	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs812744	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][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	nsv1041877	chr12:31009451-31809254	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv541440	chr12:31009451-31809254	ZNF genes & repeats Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
3	esv2751046	chr12:31174233-31684733	Bivalent Enhancer Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	nsv832364	chr12:31467990-31648144	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:31480000-31522800	Weak transcription	Right Atrium	heart
2	chr12:31515600-31522800	Weak transcription	Brain Hippocampus Middle	brain
3	chr12:31515800-31522800	Weak transcription	Fetal Muscle Trunk	muscle
4	chr12:31516000-31523600	Weak transcription	Spleen	Spleen
5	chr12:31516400-31522600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr12:31516400-31522600	Weak transcription	NHEK	skin
7	chr12:31516400-31523200	Weak transcription	K562	blood
8	chr12:31516600-31523200	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr12:31517200-31522800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr12:31518200-31522600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr12:31521200-31524600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr12:31521400-31522600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr12:31521400-31522600	Enhancers	Fetal Kidney	kidney
14	chr12:31521400-31522800	Enhancers	Rectal Mucosa Donor 31	rectum
15	chr12:31521400-31523400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr12:31521600-31522600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
17	chr12:31521600-31522600	Enhancers	Rectal Mucosa Donor 29	rectum
18	chr12:31521600-31522600	Enhancers	Stomach Mucosa	stomach
19	chr12:31521600-31522800	Enhancers	Fetal Intestine Large	intestine
20	chr12:31521600-31522800	Enhancers	Fetal Stomach	stomach
21	chr12:31521600-31523000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr12:31521600-31523000	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
23	chr12:31521600-31523400	Enhancers	H9 Cell Line	embryonic stem cell
24	chr12:31521600-31524200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr12:31521600-31524400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr12:31521600-31524400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr12:31521600-31524400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
28	chr12:31521600-31524400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
29	chr12:31521600-31524400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
30	chr12:31521600-31524400	Flanking Active TSS	HepG2	liver
31	chr12:31521600-31524600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
32	chr12:31521600-31524800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr12:31521800-31522600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr12:31521800-31522600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr12:31521800-31522600	Enhancers	Duodenum Mucosa	Duodenum
36	chr12:31521800-31522600	Enhancers	Fetal Muscle Leg	muscle
37	chr12:31521800-31522600	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr12:31521800-31522800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr12:31521800-31522800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
40	chr12:31521800-31522800	Enhancers	Fetal Lung	lung
41	chr12:31521800-31522800	Enhancers	Placenta	Placenta
42	chr12:31521800-31523000	Enhancers	Brain Cingulate Gyrus	brain
43	chr12:31522000-31522600	Enhancers	H1 Cell Line	embryonic stem cell
44	chr12:31522000-31522600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr12:31522000-31522600	Enhancers	Adipose Nuclei	Adipose
46	chr12:31522000-31522800	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr12:31522000-31522800	Weak transcription	Pancreas	Pancrea
48	chr12:31522000-31522800	Weak transcription	Psoas Muscle	Psoas
49	chr12:31522000-31523200	Active TSS	Stomach Smooth Muscle	stomach
50	chr12:31522000-31523200	Weak transcription	NH-A	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links