Variant report

Variant	rs114413521
Chromosome Location	chr6:12009601-12009602
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:206)
CpG islands
(count:61)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:206 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:12009417-12009951	GM12891	blood:	n/a	n/a
2	ZMIZ1	chr6:12008264-12009836	K562	blood:	n/a	n/a
3	TEAD4	chr6:12008221-12009775	K562	blood:	n/a	n/a
4	BHLHE40	chr6:12008368-12009828	GM12878	blood:	n/a	chr6:12009310-12009326
5	POLR2A	chr6:12009429-12009710	HepG2	liver:	n/a	n/a
6	MAX	chr6:12008484-12009867	Hela-S3	cervix:	n/a	chr6:12009161-12009170
7	MAX	chr6:12008442-12009754	A549	lung:	n/a	chr6:12009161-12009170
8	POLR2A	chr6:12008400-12011637	K562	blood:	n/a	n/a
9	HCFC1	chr6:12008484-12009740	K562	blood:	n/a	n/a
10	POLR2A	chr6:12008545-12013822	GM18951	blood:	n/a	n/a
11	POLR2A	chr6:12008481-12009757	GM18526	blood:	n/a	n/a
12	POLR2A	chr6:12008516-12013922	GM19193	blood:	n/a	n/a
13	PAX5	chr6:12009088-12009626	GM12892	blood:	n/a	n/a
14	MAX	chr6:12008501-12009865	K562	blood:	n/a	chr6:12009161-12009170
15	MXI1	chr6:12008646-12009889	GM12878	blood:	n/a	n/a
16	POLR2A	chr6:12008529-12009874	GM12878	blood:	n/a	n/a
17	POLR2A	chr6:12007817-12015834	GM12878	blood:	n/a	n/a
18	POLR2A	chr6:12008475-12009815	Hela-S3	cervix:	n/a	n/a
19	EP300	chr6:12009569-12011720	GM12878	blood:	n/a	chr6:12011101-12011115 chr6:12010307-12010317 chr6:12009953-12009967
20	TAF1	chr6:12008489-12009814	GM12878	blood:	n/a	n/a
21	CCNT2	chr6:12008406-12009802	K562	blood:	n/a	n/a
22	CUX1	chr6:12009567-12009848	GM12878	blood:	n/a	n/a
23	TCF12	chr6:12008535-12009612	ECC-1	luminal epithelium:	n/a	n/a
24	POLR2A	chr6:12007783-12012797	K562	blood:	n/a	n/a
25	TBP	chr6:12009556-12011615	GM12878	blood:	n/a	n/a
26	TEAD4	chr6:12008773-12009785	SK-N-SH	brain:	n/a	n/a
27	POLR2A	chr6:12008239-12015396	IMR90	lung:	n/a	n/a
28	EBF1	chr6:12008766-12009881	GM12878	blood:	n/a	chr6:12009624-12009635
29	WRNIP1	chr6:12009565-12009683	GM12878	blood:	n/a	n/a
30	TAF1	chr6:12008632-12009654	HepG2	liver:	n/a	n/a
31	CHD2	chr6:12008467-12009691	Hela-S3	cervix:	n/a	n/a
32	SMARCB1	chr6:12008640-12010131	Hela-S3	cervix:	n/a	n/a
33	POU2F2	chr6:12008452-12009923	GM12878	blood:	n/a	chr6:12009312-12009324
34	POLR2A	chr6:12007820-12009828	K562	blood:	n/a	n/a
35	POLR2A	chr6:12009457-12009697	HepG2	liver:	n/a	n/a
36	MAZ	chr6:12008275-12009889	K562	blood:	n/a	chr6:12009161-12009170
37	POLR2A	chr6:12008539-12009721	MCF-7	breast:	n/a	n/a
38	POLR2A	chr6:12008438-12009803	K562	blood:	n/a	n/a
39	EBF1	chr6:12008766-12009692	GM12878	blood:	n/a	chr6:12009624-12009635
40	RCOR1	chr6:12008511-12009786	HepG2	liver:	n/a	n/a
41	ZBTB7A	chr6:12009052-12009728	K562	blood:	n/a	n/a
42	CHD1	chr6:12008671-12011506	GM12878	blood:	n/a	n/a
43	MYC	chr6:12009081-12009680	K562	blood:	n/a	chr6:12009161-12009170
44	EGR1	chr6:12009430-12009764	ECC-1	luminal epithelium:	n/a	n/a
45	BHLHE40	chr6:12008611-12009779	HepG2	liver:	n/a	chr6:12009310-12009326
46	JUN	chr6:12008032-12009732	K562	blood:	n/a	n/a
47	GATA3	chr6:12008536-12009612	A549	lung:	n/a	n/a
48	POLR2A	chr6:12007858-12013838	Hela-S3	cervix:	n/a	n/a
49	MYC	chr6:12008740-12009717	HepG2	liver:	n/a	chr6:12009161-12009170
50	MTA3	chr6:12009555-12011567	GM12878	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:12009578-12009628	GM06990	blood:	n/a
2	chr6:12009578-12009628	SKMC	muscle:	n/a
3	chr6:12009578-12009628	AG09319	gingival:	n/a
4	chr6:12009578-12009628	SK-N-MC	brain:	n/a
5	chr6:12009578-12009628	ovcar-3	ovarian:	n/a
6	chr6:12009578-12009628	HAEpiC	amniotic membrane:	n/a
7	chr6:12009578-12009628	HepG2	liver:	n/a
8	chr6:12009578-12009628	HL-60	blood:	n/a
9	chr6:12009578-12009628	BJ	skin:	n/a
10	chr6:12009578-12009628	AoSMC	blood vessel:	n/a
11	chr6:12009578-12009628	T-47D	breast:	n/a
12	chr6:12009578-12009628	SAEC	small airway:	n/a
13	chr6:12009578-12009628	HRCEpiC	kidney:	n/a
14	chr6:12009578-12009628	LNCaP	prostate:	n/a
15	chr6:12009578-12009628	HEEpiC	esophagus:	n/a
16	chr6:12009578-12009628	AG09309	skin:	n/a
17	chr6:12009578-12009628	Hela-S3	cervix:	n/a
18	chr6:12009578-12009628	MCF10A-Er-Src	breast:	n/a
19	chr6:12009578-12009628	K562	blood:	n/a
20	chr6:12009578-12009628	PFSK-1	brain:	n/a
21	chr6:12009578-12009628	GM19239	blood:	n/a
22	chr6:12009578-12009628	HCT-116	colon:	n/a
23	chr6:12009578-12009628	H1-hESC	embryonic stem cell:	embryo
24	chr6:12009578-12009628	HMEC	breast:	n/a
25	chr6:12009578-12009628	SK-N-SH	brain:	n/a
26	chr6:12009578-12009628	NT2-D1	testis:	n/a
27	chr6:12009578-12009628	Hepatocyte	liver:	n/a
28	chr6:12009578-12009628	BE2_C	brain:	n/a
29	chr6:12009578-12009628	A549	lung:	n/a
30	chr6:12009578-12009628	GM12892	blood:	n/a
31	chr6:12009578-12009628	HRPEpiC	eye:	n/a
32	chr6:12009578-12009628	NB4	blood:	n/a
33	chr6:12009578-12009628	HCPEpiC	choroid plexus:	n/a
34	chr6:12009578-12009628	HIPEpiC	eye:	n/a
35	chr6:12009578-12009628	NHBE	bronchial:	n/a
36	chr6:12009578-12009628	ProgFib	skin:	n/a
37	chr6:12009578-12009628	MCF-7	breast:	n/a
38	chr6:12009578-12009628	NHDF-neo	bronchial:	n/a
39	chr6:12009578-12009628	NH-A	brain:	n/a
40	chr6:12009578-12009628	AG10803	skin:	n/a
41	chr6:12009578-12009628	Caco-2	colon:	n/a
42	chr6:12009578-12009628	PrEC	prostate:	n/a
43	chr6:12009578-12009628	HNPCEpiC	eye:	n/a
44	chr6:12009578-12009628	HRE	kidney:	n/a
45	chr6:12009578-12009628	Jurkat	blood:	n/a
46	chr6:12009578-12009628	SK-N-SH_RA	brain:	n/a
47	chr6:12009578-12009628	HEK293	kidney:	embryo
48	chr6:12009578-12009628	RPTEC	kidney:	n/a
49	chr6:12009578-12009628	GM12891	blood:	n/a
50	chr6:12009578-12009628	AG04449	skin:	fetal

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:46237768..46238593-chr6:12009330..12009875,2	Hela-S3	cervix:
2	chr6:11873602..11875677-chr6:12009027..12011838,2	K562	blood:
3	chr6:11990947..11994181-chr6:12007149..12010077,3	K562	blood:
4	chr6:11804488..11807450-chr6:12008603..12011488,3	MCF-7	breast:
5	chr6:11935076..11937337-chr6:12009000..12010923,2	K562	blood:
6	chr6:11766846..11771135-chr6:12008831..12011747,3	K562	blood:
7	chr6:11865768..11868889-chr6:12009325..12011874,3	K562	blood:
8	chr6:11916741..11918485-chr6:12009414..12011071,2	K562	blood:
9	chr6:12008844..12009838-chr7:134854735..134855590,2	Hela-S3	cervix:
10	chr6:12009134..12010743-chr6:12145646..12148619,2	MCF-7	breast:
11	chr6:11865768..11869319-chr6:12009325..12011874,4	K562	blood:
12	chr6:12009262..12013340-chr6:12286174..12290698,6	MCF-7	breast:
13	chr6:11733150..11736062-chr6:12007778..12010289,2	K562	blood:
14	chr6:11922704..11924727-chr6:12009251..12011603,2	K562	blood:

No data

Variant related genes	Relation type
HIVEP1	TF binding region
HIVEP1	CpG island
ENSG00000225102	Chromatin interaction
ENSG00000122783	Chromatin interaction
ENSG00000078401	Chromatin interaction
ENSG00000111863	Chromatin interaction
ENSG00000184900	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv970323	chr6:12006884-12020375	Enhancers Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	esv10446	chr6:12008060-12013799	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	esv12680	chr6:12009115-12009764	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:12007400-12013400	Active TSS	K562	blood
2	chr6:12007800-12009800	Active TSS	Liver	Liver
3	chr6:12007800-12009800	Active TSS	Rectal Mucosa Donor 29	rectum
4	chr6:12007800-12009800	Bivalent/Poised TSS	HepG2	liver
5	chr6:12007800-12011400	Active TSS	Fetal Muscle Trunk	muscle
6	chr6:12008000-12014000	Active TSS	H9 Cell Line	embryonic stem cell
7	chr6:12008200-12009800	Active TSS	Fetal Intestine Large	intestine
8	chr6:12008200-12010200	Active TSS	A549	lung
9	chr6:12008200-12010600	Active TSS	Fetal Muscle Leg	muscle
10	chr6:12008200-12014000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr6:12008400-12009800	Active TSS	Pancreas	Pancrea
12	chr6:12008400-12010000	Active TSS	Brain Anterior Caudate	brain
13	chr6:12008400-12010000	Active TSS	Stomach Smooth Muscle	stomach
14	chr6:12008400-12010000	Active TSS	HSMMtube	muscle
15	chr6:12008400-12010800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr6:12008400-12010800	Active TSS	Brain Inferior Temporal Lobe	brain
17	chr6:12008400-12011400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
18	chr6:12008400-12011600	Active TSS	ES-I3 Cell Line	embryonic stem cell
19	chr6:12008400-12013600	Active TSS	Psoas Muscle	Psoas
20	chr6:12008400-12013800	Active TSS	Right Ventricle	heart
21	chr6:12008400-12014200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr6:12008600-12009800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr6:12008600-12009800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr6:12008600-12009800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr6:12008600-12009800	Active TSS	Brain Substantia Nigra	brain
26	chr6:12008600-12009800	Active TSS	Esophagus	oesophagus
27	chr6:12008600-12009800	Active TSS	Pancreatic Islets	Pancreatic Islet
28	chr6:12008600-12009800	Active TSS	Gastric	stomach
29	chr6:12008600-12009800	Active TSS	Ovary	ovary
30	chr6:12008600-12009800	Active TSS	Sigmoid Colon	Sigmoid Colon
31	chr6:12008600-12009800	Active TSS	Stomach Mucosa	stomach
32	chr6:12008600-12009800	Active TSS	Spleen	Spleen
33	chr6:12008600-12010000	Active TSS	Primary T killer memory cells from peripheral blood	blood
34	chr6:12008600-12010000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
35	chr6:12008600-12010200	Active TSS	Brain Angular Gyrus	brain
36	chr6:12008600-12011400	Active TSS	Placenta Amnion	Placenta Amnion
37	chr6:12008600-12011800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr6:12008600-12014000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr6:12008600-12014000	Active TSS	Colonic Mucosa	Colon
40	chr6:12008600-12014200	Active TSS	Breast Myoepithelial Primary Cells	Breast
41	chr6:12008600-12014400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr6:12008600-12014400	Active TSS	Aorta	Aorta
43	chr6:12008800-12009800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr6:12008800-12009800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr6:12008800-12009800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr6:12008800-12009800	Active TSS	HUES64 Cell Line	embryonic stem cell
47	chr6:12008800-12009800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr6:12008800-12009800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr6:12008800-12009800	Active TSS	Primary T cells from cord blood	blood
50	chr6:12008800-12009800	Active TSS	Primary hematopoietic stem cells short term culture	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links