Variant report

Variant	rs567408265
Chromosome Location	chr12:4758273-4758274
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:382)
CpG islands
(count:122)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:382 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TAF1	chr12:4757537-4758703	H1-hESC	embryonic stem cell:	n/a	n/a
2	USF1	chr12:4758095-4758372	SK-N-SH_RA	brain:	n/a	n/a
3	RUNX3	chr12:4757725-4758567	GM12878	blood:	n/a	n/a
4	POLR2A	chr12:4757918-4758558	GM12891	blood:	n/a	n/a
5	YY1	chr12:4757829-4758514	HepG2	liver:	n/a	chr12:4758282-4758302 chr12:4757987-4758004 chr12:4758288-4758300
6	POLR2A	chr12:4757824-4758576	GM12891	blood:	n/a	n/a
7	CREB1	chr12:4757960-4758541	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr12:4757126-4758599	MCF10A-Er-Src	breast:	n/a	n/a
9	POLR2A	chr12:4757834-4758612	Gliobla	brain:	n/a	n/a
10	TBL1XR1	chr12:4757426-4758524	GM12878	blood:	n/a	n/a
11	STAT3	chr12:4757259-4758518	MCF10A-Er-Src	breast:	n/a	chr12:4757480-4757491
12	CTCF	chr12:4758162-4758291	GM12878	blood:	n/a	n/a
13	ZEB1	chr12:4758083-4758468	GM12878	blood:	n/a	n/a
14	YY1	chr12:4757781-4758894	SK-N-SH	brain:	n/a	chr12:4758282-4758302 chr12:4757987-4758004 chr12:4758288-4758300
15	POLR2A	chr12:4757581-4758605	GM19193	blood:	n/a	n/a
16	ZEB1	chr12:4758133-4758403	GM12878	blood:	n/a	n/a
17	POLR2A	chr12:4758010-4758485	HUVEC	blood vessel:	n/a	n/a
18	USF1	chr12:4758040-4758462	A549	lung:	n/a	n/a
19	NFIC	chr12:4758010-4758515	GM12878	blood:	n/a	n/a
20	ELF1	chr12:4757974-4758487	A549	lung:	n/a	n/a
21	POLR2A	chr12:4757904-4758636	GM12892	blood:	n/a	n/a
22	TAF1	chr12:4757958-4758515	MCF-7	breast:	n/a	n/a
23	POLR2A	chr12:4757758-4758652	PFSK-1	brain:	n/a	n/a
24	POLR2A	chr12:4757973-4758528	GM10847	blood:	n/a	n/a
25	MXI1	chr12:4757107-4759126	SK-N-SH	brain:	n/a	n/a
26	REST	chr12:4757476-4759419	H1-neurons	neurons:	n/a	n/a
27	MAX	chr12:4757530-4758433	GM12878	blood:	n/a	n/a
28	POLR2A	chr12:4757603-4758640	Hela-S3	cervix:	n/a	n/a
29	SIN3AK20	chr12:4758139-4758705	H1-hESC	embryonic stem cell:	n/a	n/a
30	TAF1	chr12:4758136-4758494	GM12891	blood:	n/a	n/a
31	YY1	chr12:4758103-4758661	GM12892	blood:	n/a	chr12:4758282-4758302 chr12:4758288-4758300
32	POLR2A	chr12:4757919-4758605	A549	lung:	n/a	n/a
33	SP1	chr12:4757786-4758644	A549	lung:	n/a	n/a
34	SP1	chr12:4757820-4758636	A549	lung:	n/a	n/a
35	POLR2A	chr12:4757657-4758587	K562	blood:	n/a	n/a
36	HEY1	chr12:4757956-4758559	K562	blood:	n/a	n/a
37	TCF12	chr12:4757783-4758724	ECC-1	luminal epithelium:	n/a	n/a
38	TBP	chr12:4757978-4758565	HepG2	liver:	n/a	n/a
39	YY1	chr12:4758092-4758419	HCT-116	colon:	n/a	chr12:4758282-4758302 chr12:4758288-4758300
40	POLR2A	chr12:4757838-4758547	SK-N-SH	brain:	n/a	n/a
41	POLR2A	chr12:4757367-4758571	GM12878	blood:	n/a	n/a
42	SIN3A	chr12:4757582-4758974	H1-hESC	embryonic stem cell:	n/a	chr12:4758562-4758570
43	POLR2A	chr12:4757556-4758695	H1-neurons	neurons:	n/a	n/a
44	SRF	chr12:4757961-4758588	MCF-7	breast:	n/a	n/a
45	MAX	chr12:4757462-4758635	A549	lung:	n/a	n/a
46	REST	chr12:4757652-4758799	A549	lung:	n/a	n/a
47	MAX	chr12:4758258-4758479	HepG2	liver:	n/a	n/a
48	NRF1	chr12:4757918-4758794	SK-N-SH	brain:	n/a	chr12:4758199-4758210 chr12:4758500-4758507 chr12:4758199-4758213 chr12:4758199-4758210 chr12:4758201-4758210
49	CCNT2	chr12:4757956-4758363	K562	blood:	n/a	n/a
50	ATF2	chr12:4757972-4758620	GM12878	blood:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:4758272-4758322	BJ	skin:	n/a
2	chr12:4758250-4758300	Jurkat	blood:	n/a
3	chr12:4758272-4758322	ovcar-3	ovarian:	n/a
4	chr12:4758272-4758322	SK-N-MC	brain:	n/a
5	chr12:4758272-4758322	U87	brain:	n/a
6	chr12:4758250-4758300	SK-N-MC	brain:	n/a
7	chr12:4758250-4758300	NHBE	bronchial:	n/a
8	chr12:4758250-4758300	ovcar-3	ovarian:	n/a
9	chr12:4758250-4758300	HIPEpiC	eye:	n/a
10	chr12:4758272-4758322	NT2-D1	testis:	n/a
11	chr12:4758272-4758322	HEEpiC	esophagus:	n/a
12	chr12:4758250-4758300	CMK	blood:	n/a
13	chr12:4758250-4758300	HEEpiC	esophagus:	n/a
14	chr12:4758250-4758300	HCM	heart:	n/a
15	chr12:4758272-4758322	MCF-7	breast:	n/a
16	chr12:4758250-4758300	T-47D	breast:	n/a
17	chr12:4758272-4758322	SKMC	muscle:	n/a
18	chr12:4758272-4758322	AG04449	skin:	fetal
19	chr12:4758250-4758300	HAEpiC	amniotic membrane:	n/a
20	chr12:4758250-4758300	NT2-D1	testis:	n/a
21	chr12:4758250-4758300	BJ	skin:	n/a
22	chr12:4758272-4758322	HEK293	kidney:	embryo
23	chr12:4758272-4758322	PANC-1	pancreas:	n/a
24	chr12:4758272-4758322	HCM	heart:	n/a
25	chr12:4758250-4758300	HRCEpiC	kidney:	n/a
26	chr12:4758250-4758300	NB4	blood:	n/a
27	chr12:4758272-4758322	NHDF-neo	bronchial:	n/a
28	chr12:4758272-4758322	HMEC	breast:	n/a
29	chr12:4758250-4758300	NH-A	brain:	n/a
30	chr12:4758250-4758300	AG10803	skin:	n/a
31	chr12:4758272-4758322	BE2_C	brain:	n/a
32	chr12:4758250-4758300	ProgFib	skin:	n/a
33	chr12:4758250-4758300	HCPEpiC	choroid plexus:	n/a
34	chr12:4758272-4758322	GM12891	blood:	n/a
35	chr12:4758272-4758322	AG09309	skin:	n/a
36	chr12:4758250-4758300	H1-hESC	embryonic stem cell:	embryo
37	chr12:4758250-4758300	AG09309	skin:	n/a
38	chr12:4758250-4758300	GM12891	blood:	n/a
39	chr12:4758272-4758322	HIPEpiC	eye:	n/a
40	chr12:4758272-4758322	HepG2	liver:	n/a
41	chr12:4758250-4758300	K562	blood:	n/a
42	chr12:4758250-4758300	BE2_C	brain:	n/a
43	chr12:4758272-4758322	SK-N-SH_RA	brain:	n/a
44	chr12:4758272-4758322	RPTEC	kidney:	n/a
45	chr12:4758272-4758322	HCF	heart:	n/a
46	chr12:4758272-4758322	NB4	blood:	n/a
47	chr12:4758272-4758322	Hela-S3	cervix:	n/a
48	chr12:4758272-4758322	HUVEC	blood vessel:	n/a
49	chr12:4758250-4758300	NHDF-neo	bronchial:	n/a
50	chr12:4758250-4758300	SAEC	small airway:	n/a

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:4757018..4762059-chr12:4764285..4767290,6	K562	blood:
2	chr12:4756861..4759668-chr12:4760395..4765208,7	MCF-7	breast:
3	chr12:4751073..4755821-chr12:4757118..4761577,5	MCF-7	breast:
4	chr12:4757063..4759938-chr12:4760465..4764038,5	K562	blood:
5	chr12:4757537..4758351-chr2:9983167..9983703,2	Hela-S3	cervix:
6	chr12:4754845..4760714-chr12:4761830..4765057,7	MCF-7	breast:
7	chr12:4757573..4759938-chr12:4760465..4764276,3	K562	blood:

No data

Variant related genes	Relation type
NDUFA9	TF binding region
AKAP3	TF binding region
NDUFA9	CpG island
AKAP3	CpG island
ENSG00000111254	Chromatin interaction
ENSG00000255639	Chromatin interaction
ENSG00000115750	Chromatin interaction
ENSG00000256381	Chromatin interaction
ENSG00000139180	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832318	chr12:4655799-4875837	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv898617	chr12:4715082-4768619	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv898618	chr12:4726068-4764137	Weak transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv898619	chr12:4737715-4771456	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv898620	chr12:4745313-4771456	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv557125	chr12:4748410-4764137	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv1036308	chr12:4748657-4804156	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv898621	chr12:4751798-4768193	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv898622	chr12:4751798-4768619	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv898623	chr12:4751798-4771456	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	nsv898624	chr12:4757474-4769876	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	nsv557126	chr12:4757809-4768619	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:4757000-4758400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr12:4757000-4758800	Active TSS	Colonic Mucosa	Colon
3	chr12:4757000-4759200	Active TSS	iPS-18 Cell Line	embryonic stem cell
4	chr12:4757200-4758800	Active TSS	Brain Hippocampus Middle	brain
5	chr12:4757200-4758800	Active TSS	Fetal Stomach	stomach
6	chr12:4757200-4758800	Active TSS	Stomach Smooth Muscle	stomach
7	chr12:4757200-4759000	Active TSS	NHLF	lung
8	chr12:4757200-4759200	Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr12:4757200-4759200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr12:4757200-4759200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr12:4757200-4759400	Flanking Active TSS	Primary B cells from cord blood	blood
12	chr12:4757200-4759400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr12:4757200-4759400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr12:4757200-4759400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr12:4757200-4759400	Active TSS	K562	blood
16	chr12:4757200-4759400	Active TSS	NHDF-Ad	bronchial
17	chr12:4757200-4760200	Active TSS	Right Atrium	heart
18	chr12:4757400-4758800	Active TSS	Brain Cingulate Gyrus	brain
19	chr12:4757400-4758800	Active TSS	Brain Germinal Matrix	brain
20	chr12:4757400-4758800	Active TSS	Duodenum Mucosa	Duodenum
21	chr12:4757400-4758800	Active TSS	Fetal Brain Male	brain
22	chr12:4757400-4758800	Active TSS	Placenta	Placenta
23	chr12:4757400-4759000	Active TSS	Aorta	Aorta
24	chr12:4757400-4759000	Active TSS	Pancreatic Islets	Pancreatic Islet
25	chr12:4757400-4759000	Active TSS	Fetal Lung	lung
26	chr12:4757400-4759000	Active TSS	Pancreas	Pancrea
27	chr12:4757400-4759000	Active TSS	Osteobl	bone
28	chr12:4757400-4759200	Active TSS	iPS-15b Cell Line	embryonic stem cell
29	chr12:4757400-4759200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr12:4757400-4759200	Active TSS	Breast Myoepithelial Primary Cells	Breast
31	chr12:4757400-4759200	Active TSS	Muscle Satellite Cultured Cells	--
32	chr12:4757400-4759200	Active TSS	Fetal Intestine Large	intestine
33	chr12:4757400-4759200	Active TSS	Fetal Muscle Trunk	muscle
34	chr12:4757400-4759200	Active TSS	Ovary	ovary
35	chr12:4757400-4759200	Active TSS	A549	lung
36	chr12:4757400-4759200	Active TSS	HSMMtube	muscle
37	chr12:4757400-4759400	Active TSS	Fetal Intestine Small	intestine
38	chr12:4757400-4759600	Active TSS	H1 Cell Line	embryonic stem cell
39	chr12:4757400-4759600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr12:4757400-4759800	Active TSS	Psoas Muscle	Psoas
41	chr12:4757400-4759800	Active TSS	Right Ventricle	heart
42	chr12:4757600-4758600	Active TSS	Primary T killer memory cells from peripheral blood	blood
43	chr12:4757600-4758800	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
44	chr12:4757600-4758800	Active TSS	Primary T helper cells PMA-I stimulated	--
45	chr12:4757600-4758800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr12:4757600-4758800	Active TSS	Brain Angular Gyrus	brain
47	chr12:4757600-4758800	Active TSS	Brain Substantia Nigra	brain
48	chr12:4757600-4758800	Active TSS	Fetal Adrenal Gland	Adrenal Gland
49	chr12:4757600-4758800	Active TSS	Fetal Thymus	thymus
50	chr12:4757600-4758800	Active TSS	Rectal Mucosa Donor 31	rectum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links