Variant report

Variant	rs12136704
Chromosome Location	chr1:166134393-166134394
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:104)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:104 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr1:166134260-166134410	GM12873	blood:	n/a	n/a
2	REST	chr1:166134220-166134458	GM12878	blood:	n/a	n/a
3	CTCF	chr1:166134102-166134460	K562	blood:	n/a	n/a
4	REST	chr1:166134157-166134532	PANC-1	pancreas:	n/a	n/a
5	REST	chr1:166133996-166134815	PFSK-1	brain:	n/a	n/a
6	REST	chr1:166134049-166135661	H1-neurons	neurons:	n/a	chr1:166135140-166135148
7	PAX5	chr1:166134142-166134402	GM12878	blood:	n/a	n/a
8	REST	chr1:166134207-166134532	ECC-1	luminal epithelium:	n/a	n/a
9	CTCF	chr1:166134109-166134403	A549	lung:	n/a	n/a
10	REST	chr1:166134218-166134480	PFSK-1	brain:	n/a	n/a
11	MXI1	chr1:166134129-166134535	GM12878	blood:	n/a	n/a
12	CTCF	chr1:166133934-166134580	SK-N-SH	brain:	n/a	n/a
13	RAD21	chr1:166133983-166134538	SK-N-SH	brain:	n/a	n/a
14	RAD21	chr1:166134139-166134429	HepG2	liver:	n/a	n/a
15	UBTF	chr1:166134122-166134473	K562	blood:	n/a	n/a
16	CTCF	chr1:166134190-166134404	ProgFib	skin:	n/a	n/a
17	CTCF	chr1:166134234-166134395	GM13976	blood:	n/a	n/a
18	SIN3A	chr1:166134059-166135545	H1-hESC	embryonic stem cell:	n/a	chr1:166134458-166134472
19	RAD21	chr1:166134115-166134420	IMR90	lung:	n/a	n/a
20	CTCF	chr1:166134188-166134401	GM12878	blood:	n/a	n/a
21	UBTF	chr1:166134173-166134421	K562	blood:	n/a	n/a
22	SMC3	chr1:166134182-166134456	K562	blood:	n/a	n/a
23	CTCF	chr1:166134176-166134405	Pancreas_OC	pancreas:	n/a	n/a
24	RUNX3	chr1:166134126-166134467	GM12878	blood:	n/a	n/a
25	PAX5	chr1:166134111-166134459	GM12878	blood:	n/a	n/a
26	ZNF143	chr1:166134170-166134849	H1-hESC	embryonic stem cell:	n/a	n/a
27	REST	chr1:166134008-166135070	HL-60	blood:	n/a	n/a
28	CTBP2	chr1:166134242-166136250	H1-hESC	embryonic stem cell:	n/a	n/a
29	RAD21	chr1:166134126-166134414	HepG2	liver:	n/a	n/a
30	CTCF	chr1:166134187-166134419	SK-N-SH_RA	brain:	n/a	n/a
31	JUND	chr1:166134248-166134405	K562	blood:	n/a	n/a
32	REST	chr1:166134149-166134806	PANC-1	pancreas:	n/a	n/a
33	REST	chr1:166134123-166134634	HL-60	blood:	n/a	n/a
34	CHD2	chr1:166134183-166134906	H1-hESC	embryonic stem cell:	n/a	n/a
35	REST	chr1:166134214-166134495	U87	brain:	n/a	n/a
36	RAD21	chr1:166134162-166134507	SK-N-SH_RA	brain:	n/a	n/a
37	CTCF	chr1:166134179-166134405	Spleen_OC	spleen:	n/a	n/a
38	REST	chr1:166134097-166134825	H1-hESC	embryonic stem cell:	n/a	n/a
39	REST	chr1:166134085-166134544	PANC-1	pancreas:	n/a	n/a
40	CTCF	chr1:166134164-166134423	GM19238	blood:	n/a	n/a
41	CTCF	chr1:166134192-166134424	GM13977	blood:	n/a	n/a
42	PAX5	chr1:166134191-166134407	GM12892	blood:	n/a	n/a
43	REST	chr1:166134080-166134618	ECC-1	luminal epithelium:	n/a	n/a
44	CTCF	chr1:166134106-166134489	H1-hESC	embryonic stem cell:	n/a	n/a
45	CTCF	chr1:166134178-166134419	A549	lung:	n/a	n/a
46	CTCF	chr1:166133908-166134648	A549	lung:	n/a	chr1:166134606-166134616 chr1:166134604-166134617
47	RUNX3	chr1:166134086-166134471	GM12878	blood:	n/a	n/a
48	MAX	chr1:166134166-166135597	H1-hESC	embryonic stem cell:	n/a	chr1:166135096-166135106
49	SMC3	chr1:166134108-166134504	GM12878	blood:	n/a	n/a
50	REST	chr1:166134111-166134818	H1-hESC	embryonic stem cell:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:166134346-166134396	HPAEpiC	pulmonary alveolar:	n/a
2	chr1:166134346-166134396	GM12878	blood:	n/a
3	chr1:166134346-166134396	ProgFib	skin:	n/a
4	chr1:166134346-166134396	HCF	heart:	n/a
5	chr1:166134346-166134396	NH-A	brain:	n/a
6	chr1:166134346-166134396	HRE	kidney:	n/a
7	chr1:166134346-166134396	HEEpiC	esophagus:	n/a
8	chr1:166134346-166134396	K562	blood:	n/a
9	chr1:166134346-166134396	IMR90	lung:	fetal
10	chr1:166134346-166134396	BE2_C	brain:	n/a
11	chr1:166134346-166134396	GM19239	blood:	n/a
12	chr1:166134346-166134396	Hepatocyte	liver:	n/a
13	chr1:166134346-166134396	PFSK-1	brain:	n/a
14	chr1:166134346-166134396	SK-N-SH_RA	brain:	n/a
15	chr1:166134346-166134396	Hela-S3	cervix:	n/a
16	chr1:166134346-166134396	RPTEC	kidney:	n/a
17	chr1:166134346-166134396	CMK	blood:	n/a
18	chr1:166134346-166134396	H1-hESC	embryonic stem cell:	embryo
19	chr1:166134346-166134396	HMEC	breast:	n/a
20	chr1:166134346-166134396	HRPEpiC	eye:	n/a
21	chr1:166134346-166134396	GM06990	blood:	n/a
22	chr1:166134346-166134396	GM12891	blood:	n/a
23	chr1:166134346-166134396	U87	brain:	n/a
24	chr1:166134346-166134396	MCF10A-Er-Src	breast:	n/a
25	chr1:166134346-166134396	HAEpiC	amniotic membrane:	n/a
26	chr1:166134346-166134396	HIPEpiC	eye:	n/a
27	chr1:166134346-166134396	HepG2	liver:	n/a
28	chr1:166134346-166134396	NB4	blood:	n/a
29	chr1:166134346-166134396	MCF-7	breast:	n/a
30	chr1:166134346-166134396	HEK293	kidney:	embryo
31	chr1:166134346-166134396	AG09309	skin:	n/a
32	chr1:166134346-166134396	AG04449	skin:	fetal
33	chr1:166134346-166134396	NT2-D1	testis:	n/a
34	chr1:166134346-166134396	HNPCEpiC	eye:	n/a
35	chr1:166134346-166134396	BJ	skin:	n/a
36	chr1:166134346-166134396	HL-60	blood:	n/a
37	chr1:166134346-166134396	PANC-1	pancreas:	n/a
38	chr1:166134346-166134396	AG04450	lung:	fetal
39	chr1:166134346-166134396	HUVEC	blood vessel:	n/a
40	chr1:166134346-166134396	T-47D	breast:	n/a
41	chr1:166134346-166134396	GM12892	blood:	n/a
42	chr1:166134346-166134396	HCT-116	colon:	n/a
43	chr1:166134346-166134396	HCM	heart:	n/a
44	chr1:166134346-166134396	NHBE	bronchial:	n/a
45	chr1:166134346-166134396	SK-N-SH	brain:	n/a
46	chr1:166134346-166134396	AoSMC	blood vessel:	n/a
47	chr1:166134346-166134396	SK-N-MC	brain:	n/a
48	chr1:166134346-166134396	NHDF-neo	bronchial:	n/a
49	chr1:166134346-166134396	ovcar-3	ovarian:	n/a
50	chr1:166134346-166134396	AG09319	gingival:	n/a

No data

Variant related genes	Relation type
ENSG00000230898	TF binding region
ENSG00000230898	CpG island

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10494453	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10494455	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10494456	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs10753713	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs10753714	0.82[ASN][1000 genomes]
rs10800198	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10800199	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10800200	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10800202	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs10918381	0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10918383	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10918384	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10918385	0.91[EUR][1000 genomes]
rs10918387	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs10918388	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12023523	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12028067	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12031538	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12076837	0.93[EUR][1000 genomes]
rs12126834	0.91[EUR][1000 genomes]
rs12144426	0.90[EUR][1000 genomes]
rs12402371	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12409766	0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12734750	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1432119	0.91[EUR][1000 genomes]
rs1529642	0.93[EUR][1000 genomes]
rs1530889	0.93[EUR][1000 genomes]
rs1551179	0.93[EUR][1000 genomes]
rs1560570	0.81[ASN][1000 genomes]
rs16856734	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs1864791	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2116519	0.92[EUR][1000 genomes]
rs28568389	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs4147072	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs4378185	0.81[AMR][1000 genomes]
rs4391646	0.81[ASN][1000 genomes]
rs4556335	0.82[ASN][1000 genomes]
rs4656481	0.90[EUR][1000 genomes]
rs4656484	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4656485	0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4657530	0.91[EUR][1000 genomes]
rs61835144	0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs61835149	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs61835150	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs61835151	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs6658248	0.83[ASN][1000 genomes]
rs6658513	0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs6681924	0.91[EUR][1000 genomes]
rs6696964	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6700193	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs715421	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs724139	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7548172	0.97[EUR][1000 genomes]
rs7552225	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs9787101	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9787239	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][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	nsv916491	chr1:166000783-166948513	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	esv3332610	chr1:166111288-166282689	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:166132400-166135200	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr1:166133800-166134400	Bivalent/Poised TSS	Fetal Brain Female	brain
3	chr1:166133800-166135000	Active TSS	Brain Inferior Temporal Lobe	brain
4	chr1:166133800-166136200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
5	chr1:166133800-166136600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
6	chr1:166134000-166134400	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr1:166134000-166134400	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
8	chr1:166134000-166134400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr1:166134000-166134400	Enhancers	Liver	Liver
10	chr1:166134000-166134400	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
11	chr1:166134000-166134400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
12	chr1:166134000-166134400	Bivalent/Poised TSS	Fetal Intestine Large	intestine
13	chr1:166134000-166134400	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
14	chr1:166134000-166134400	Active TSS	GM12878-XiMat	blood
15	chr1:166134000-166134400	Bivalent Enhancer	NH-A	brain
16	chr1:166134000-166134600	Bivalent Enhancer	Primary hematopoietic stem cells	blood
17	chr1:166134000-166134600	Active TSS	Brain Cingulate Gyrus	brain
18	chr1:166134000-166134600	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
19	chr1:166134000-166134600	Active TSS	Right Ventricle	heart
20	chr1:166134000-166135000	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr1:166134000-166135000	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
22	chr1:166134000-166135000	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
23	chr1:166134000-166135000	Active TSS	Right Atrium	heart
24	chr1:166134000-166135200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
25	chr1:166134000-166135400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
26	chr1:166134000-166135400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
27	chr1:166134000-166135600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
28	chr1:166134000-166135600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr1:166134000-166136600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
30	chr1:166134000-166136600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
31	chr1:166134000-166136600	Active TSS	Breast Myoepithelial Primary Cells	Breast
32	chr1:166134000-166136600	Active TSS	Brain Angular Gyrus	brain
33	chr1:166134000-166136600	Active TSS	Brain Anterior Caudate	brain
34	chr1:166134000-166136600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
35	chr1:166134000-166137000	Active TSS	Psoas Muscle	Psoas
36	chr1:166134200-166134400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
37	chr1:166134200-166134400	Bivalent/Poised TSS	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr1:166134200-166134400	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr1:166134200-166134400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
40	chr1:166134200-166134400	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
41	chr1:166134200-166134400	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
42	chr1:166134200-166134400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr1:166134200-166134400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr1:166134200-166134400	Bivalent/Poised TSS	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr1:166134200-166134400	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr1:166134200-166134400	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr1:166134200-166134400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr1:166134200-166134400	Bivalent/Poised TSS	Fetal Intestine Small	intestine
49	chr1:166134200-166134400	Enhancers	Gastric	stomach
50	chr1:166134200-166134400	Active TSS	Ovary	ovary

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