Variant report

Variant	rs369779499
Chromosome Location	chr12:57112255-57112256
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:29)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:29 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:57111493-57112758	GM12891	blood:	n/a	n/a
2	POLR2A	chr12:57111849-57115834	K562	blood:	n/a	n/a
3	POLR2A	chr12:57109223-57113587	K562	blood:	n/a	n/a
4	POLR2A	chr12:57109373-57115069	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr12:57109486-57115298	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr12:57112212-57112416	GM12878	blood:	n/a	n/a
7	MTA3	chr12:57112012-57112430	GM12878	blood:	n/a	n/a
8	POLR2A	chr12:57111326-57114042	GM12892	blood:	n/a	n/a
9	POLR2A	chr12:57109177-57115890	PFSK-1	brain:	n/a	n/a
10	POLR2A	chr12:57112054-57112462	GM12891	blood:	n/a	n/a
11	HEY1	chr12:57111440-57112682	K562	blood:	n/a	n/a
12	POLR2A	chr12:57109283-57116293	GM12878	blood:	n/a	n/a
13	POLR2A	chr12:57111483-57112504	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr12:57112176-57112495	A549	lung:	n/a	n/a
15	POLR2A	chr12:57111927-57112293	ECC-1	luminal epithelium:	n/a	n/a
16	POLR2A	chr12:57109094-57117058	SK-N-MC	brain:	n/a	n/a
17	POLR2A	chr12:57111868-57112834	HL-60	blood:	n/a	n/a
18	POLR2A	chr12:57112037-57112653	MCF-7	breast:	n/a	n/a
19	POLR2A	chr12:57111836-57114109	K562	blood:	n/a	n/a
20	POLR2A	chr12:57110773-57112301	GM12891	blood:	n/a	n/a
21	POLR2A	chr12:57112114-57112314	Hela-S3	cervix:	n/a	n/a
22	RUNX3	chr12:57111961-57112292	GM12878	blood:	n/a	n/a
23	POLR2A	chr12:57112106-57112624	HepG2	liver:	n/a	n/a
24	POLR2A	chr12:57112034-57112542	PANC-1	pancreas:	n/a	n/a
25	POLR2A	chr12:57109356-57117115	GM12878	blood:	n/a	n/a
26	POLR2A	chr12:57112085-57112468	GM12878	blood:	n/a	n/a
27	POLR2A	chr12:57110895-57113126	GM12892	blood:	n/a	n/a
28	POLR2A	chr12:57109111-57113222	GM12892	blood:	n/a	n/a
29	POLR2A	chr12:57109233-57116354	PANC-1	pancreas:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:56510526..56513327-chr12:57111291..57113363,2	K562	blood:
2	chr12:57111474..57114081-chr12:57143216..57146135,2	MCF-7	breast:
3	chr12:57074578..57085543-chr12:57108746..57121559,55	K562	blood:
4	chr12:57079048..57083970-chr12:57107938..57112602,6	K562	blood:

No data

Variant related genes	Relation type
NACA	TF binding region
ENSG00000229117	Chromatin interaction
ENSG00000025423	Chromatin interaction
ENSG00000139641	Chromatin interaction
ENSG00000198056	Chromatin interaction
ENSG00000135482	Chromatin interaction
ENSG00000110958	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040850	chr12:57055011-57679209	Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	181 gene(s)	inside rSNPs	diseases
2	nsv559016	chr12:57095815-57112637	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
3	esv3378333	chr12:57109685-57113883	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
4	esv3367526	chr12:57109835-57113733	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
5	esv3356085	chr12:57110085-57113583	Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
6	esv20867	chr12:57110564-57115506	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
7	nsv559017	chr12:57112093-57112637	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	8 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	chr12:57104000-57114600	Weak transcription	Fetal Brain Male	brain
2	chr12:57104600-57112600	Strong transcription	Fetal Intestine Large	intestine
3	chr12:57104600-57115000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr12:57107400-57113800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr12:57107800-57112600	Weak transcription	Fetal Kidney	kidney
6	chr12:57108400-57115400	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr12:57108600-57117200	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr12:57109200-57116200	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr12:57109400-57114800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr12:57109600-57112600	Weak transcription	HUVEC	blood vessel
11	chr12:57109600-57115400	Genic enhancers	Duodenum Smooth Muscle	Duodenum
12	chr12:57109600-57116000	Genic enhancers	Fetal Muscle Leg	muscle
13	chr12:57109600-57117000	Genic enhancers	Primary T cells fromperipheralblood	blood
14	chr12:57109600-57117000	Genic enhancers	Primary T helper cells fromperipheralblood	blood
15	chr12:57109600-57117800	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
16	chr12:57109800-57113600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr12:57109800-57113600	Genic enhancers	Fetal Muscle Trunk	muscle
18	chr12:57109800-57114400	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
19	chr12:57109800-57114600	Genic enhancers	Primary T helper cells PMA-I stimulated	--
20	chr12:57109800-57115800	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
21	chr12:57109800-57117200	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
22	chr12:57110000-57112600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr12:57110000-57112800	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr12:57110200-57112600	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr12:57110200-57112600	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr12:57110200-57112600	Weak transcription	Esophagus	oesophagus
27	chr12:57110200-57113200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr12:57110200-57115400	Strong transcription	Muscle Satellite Cultured Cells	--
29	chr12:57110200-57115800	Genic enhancers	Placenta	Placenta
30	chr12:57110200-57116800	Genic enhancers	Fetal Stomach	stomach
31	chr12:57110400-57112600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr12:57110400-57112600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr12:57110400-57112600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr12:57110400-57112600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
35	chr12:57110400-57112600	Weak transcription	Aorta	Aorta
36	chr12:57110400-57112600	Enhancers	Placenta Amnion	Placenta Amnion
37	chr12:57110400-57112600	Weak transcription	Stomach Mucosa	stomach
38	chr12:57110400-57112600	Weak transcription	Hela-S3	cervix
39	chr12:57110400-57112600	Weak transcription	HSMMtube	muscle
40	chr12:57110400-57112600	Weak transcription	K562	blood
41	chr12:57110400-57112800	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr12:57110400-57113000	Weak transcription	Gastric	stomach
43	chr12:57110400-57113200	Weak transcription	Brain Angular Gyrus	brain
44	chr12:57110400-57116800	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
45	chr12:57110400-57117600	Genic enhancers	Primary B cells from peripheral blood	blood
46	chr12:57110600-57112600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr12:57110600-57112600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr12:57110600-57112600	Weak transcription	Brain Anterior Caudate	brain
49	chr12:57110600-57112600	Enhancers	Left Ventricle	heart
50	chr12:57110600-57112600	Weak transcription	Pancreas	Pancrea

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links