Variant report

Variant	rs535367672
Chromosome Location	chr12:12716202-12716203
allele	C/T
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	CREB1	chr12:12715308-12716239	GM12878	blood:	n/a	n/a
2	RAD21	chr12:12715501-12717510	SK-N-SH	brain:	n/a	chr12:12717133-12717152 chr12:12717149-12717168
3	POLR2A	chr12:12713503-12716782	HepG2	liver:	n/a	n/a
4	TCF12	chr12:12715506-12716256	ECC-1	luminal epithelium:	n/a	n/a
5	ZBTB7A	chr12:12714188-12716298	ECC-1	luminal epithelium:	n/a	chr12:12715455-12715469 chr12:12714468-12714476 chr12:12715115-12715123
6	POLR2A	chr12:12715533-12716234	GM12892	blood:	n/a	n/a
7	HEY1	chr12:12715454-12716260	HepG2	liver:	n/a	n/a
8	ZNF143	chr12:12715667-12716207	K562	blood:	n/a	chr12:12715810-12715820
9	JUND	chr12:12715270-12716317	SK-N-SH	brain:	n/a	chr12:12715384-12715393 chr12:12715493-12715502
10	CTCF	chr12:12715507-12717540	SK-N-SH	brain:	n/a	chr12:12717150-12717171 chr12:12717141-12717150 chr12:12717135-12717153 chr12:12717148-12717166 chr12:12715817-12715830
11	MBD4	chr12:12715894-12716348	HepG2	liver:	n/a	n/a
12	CHD2	chr12:12715153-12716215	Hela-S3	cervix:	n/a	n/a
13	E2F4	chr12:12716094-12716235	MCF10A-Er-Src	breast:	n/a	n/a
14	POLR2A	chr12:12713382-12716397	GM12878	blood:	n/a	n/a
15	SMC3	chr12:12715391-12717663	SK-N-SH	brain:	n/a	chr12:12717144-12717151 chr12:12717137-12717151
16	TAF1	chr12:12715867-12716299	H1-neurons	neurons:	n/a	n/a
17	POLR2A	chr12:12713914-12716242	IMR90	lung:	n/a	n/a
18	MXI1	chr12:12713877-12716342	IMR90	lung:	n/a	n/a
19	POLR2A	chr12:12715501-12717198	GM12878	blood:	n/a	n/a
20	POLR2A	chr12:12715500-12716256	GM12892	blood:	n/a	n/a
21	SMC3	chr12:12715613-12716217	Hela-S3	cervix:	n/a	n/a
22	MTA3	chr12:12713388-12716723	GM12878	blood:	n/a	n/a
23	RFX5	chr12:12715448-12716223	Hela-S3	cervix:	n/a	n/a
24	PBX3	chr12:12715503-12716240	SK-N-SH	brain:	n/a	n/a
25	POLR2A	chr12:12715584-12716230	PFSK-1	brain:	n/a	n/a
26	REST	chr12:12713864-12716468	H1-neurons	neurons:	n/a	chr12:12714541-12714554 chr12:12715835-12715848
27	MAX	chr12:12713732-12716222	A549	lung:	n/a	chr12:12714863-12714872 chr12:12714847-12714857
28	POLR2A	chr12:12713502-12716210	GM12891	blood:	n/a	n/a
29	POLR2A	chr12:12715509-12716207	SK-N-SH	brain:	n/a	n/a
30	POLR2A	chr12:12713500-12716396	MCF10A-Er-Src	breast:	n/a	n/a
31	CTCF	chr12:12715473-12717573	A549	lung:	n/a	chr12:12717150-12717171 chr12:12717141-12717150 chr12:12717135-12717153 chr12:12717148-12717166 chr12:12715817-12715830
32	CTCF	chr12:12716100-12716250	HCM	heart:	n/a	n/a
33	POLR2A	chr12:12713706-12716270	MCF-7	breast:	n/a	n/a
34	POLR2A	chr12:12715471-12716217	GM12892	blood:	n/a	n/a
35	POLR2A	chr12:12714370-12716295	H1-neurons	neurons:	n/a	n/a
36	TCF12	chr12:12715055-12716289	A549	lung:	n/a	n/a
37	RCOR1	chr12:12715587-12716235	GM12878	blood:	n/a	n/a
38	MXI1	chr12:12713293-12717515	SK-N-SH	brain:	n/a	n/a
39	JUND	chr12:12715078-12716646	GM12878	blood:	n/a	chr12:12715384-12715393 chr12:12715493-12715502
40	ZNF263	chr12:12715519-12717307	HEK293-T-REx	kidney:	n/a	chr12:12715876-12715897 chr12:12716027-12716036 chr12:12715821-12715830
41	PML	chr12:12715361-12716351	GM12878	blood:	n/a	n/a
42	POLR2A	chr12:12715507-12716206	H1-hESC	embryonic stem cell:	n/a	n/a
43	POLR2A	chr12:12713527-12716250	GM12878	blood:	n/a	n/a
44	SIN3AK20	chr12:12715476-12716293	SK-N-SH	brain:	n/a	n/a
45	ATF2	chr12:12715350-12716327	GM12878	blood:	n/a	n/a
46	MAZ	chr12:12715266-12716242	GM12878	blood:	n/a	n/a
47	STAT5A	chr12:12715580-12716283	GM12878	blood:	n/a	chr12:12715998-12716010 chr12:12715638-12715650
48	REST	chr12:12715678-12716362	A549	lung:	n/a	chr12:12715835-12715848
49	POLR2A	chr12:12715391-12716794	GM12891	blood:	n/a	n/a
50	POLR2A	chr12:12714932-12716280	H1-neurons	neurons:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:12634486..12639853-chr12:12714024..12717789,5	K562	blood:
2	chr12:12713858..12718896-chr12:12719623..12723320,7	MCF-7	breast:
3	chr12:12710433..12719642-chr12:12755652..12767678,23	MCF-7	breast:
4	chr12:12712251..12716973-chr12:12867058..12873344,10	MCF-7	breast:
5	chr12:12549500..12552302-chr12:12715831..12718057,2	MCF-7	breast:
6	chr12:12714157..12716777-chr12:12764288..12766468,3	MCF-7	breast:
7	chr12:12712910..12717920-chr12:12867983..12871802,5	K562	blood:
8	chr12:12657878..12659784-chr12:12714344..12718404,3	K562	blood:
9	chr12:12713075..12717194-chr12:12718362..12721939,6	K562	blood:
10	chr12:12715374..12716942-chr12:12773209..12776027,2	MCF-7	breast:
11	chr12:12711165..12717532-chr12:12865354..12880919,24	MCF-7	breast:
12	chr12:12715613..12717543-chr12:12816506..12818729,2	K562	blood:
13	chr12:12713736..12716645-chr12:14925588..14929665,3	MCF-7	breast:
14	chr12:12713891..12716367-chr3:161087265..161090021,2	MCF-7	breast:
15	chr12:12713685..12716948-chr12:12760123..12768151,9	K562	blood:
16	chr12:12713534..12716816-chr12:12876902..12880504,5	K562	blood:
17	chr12:12507988..12510235-chr12:12714031..12716523,2	MCF-7	breast:
18	chr12:12601826..12603513-chr12:12715714..12717891,2	MCF-7	breast:

Variant related genes	Relation type
DUSP16	TF binding region
ENSG00000205791	Chromatin interaction
ENSG00000111266	Chromatin interaction
ENSG00000246705	Chromatin interaction
ENSG00000240424	Chromatin interaction
ENSG00000178878	Chromatin interaction
ENSG00000256658	Chromatin interaction
ENSG00000111269	Chromatin interaction
ENSG00000255670	Chromatin interaction
ENSG00000165714	Chromatin interaction
ENSG00000111276	Chromatin interaction
ENSG00000196542	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758295	chr12:12620654-12783124	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
2	esv2759880	chr12:12620654-12783124	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	nsv898811	chr12:12655443-12928295	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	esv3325054	chr12:12713710-12717058	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv8922	chr12:12714292-12716467	Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	diseases
6	esv3432721	chr12:12714335-12716833	Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:12712800-12716400	Active TSS	HUES48 Cell Line	embryonic stem cell
2	chr12:12712800-12716400	Active TSS	Fetal Muscle Trunk	muscle
3	chr12:12712800-12716400	Active TSS	Right Atrium	heart
4	chr12:12712800-12716800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr12:12713200-12716400	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr12:12713200-12716600	Active TSS	Brain Angular Gyrus	brain
7	chr12:12713400-12716400	Active TSS	Aorta	Aorta
8	chr12:12713400-12716400	Active TSS	Brain Inferior Temporal Lobe	brain
9	chr12:12713400-12716400	Active TSS	Psoas Muscle	Psoas
10	chr12:12713400-12716400	Active TSS	Right Ventricle	heart
11	chr12:12713600-12716400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr12:12713600-12716800	Active TSS	Sigmoid Colon	Sigmoid Colon
13	chr12:12713800-12716400	Active TSS	Duodenum Smooth Muscle	Duodenum
14	chr12:12713800-12716600	Active TSS	Brain Substantia Nigra	brain
15	chr12:12713800-12716800	Active TSS	Small Intestine	intestine
16	chr12:12714000-12716400	Active TSS	HUES64 Cell Line	embryonic stem cell
17	chr12:12714000-12716600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr12:12714400-12716400	Active TSS	Fetal Kidney	kidney
19	chr12:12714400-12716600	Active TSS	Primary T cells from cord blood	blood
20	chr12:12715000-12716400	Active TSS	Monocytes-CD14+_RO01746	blood
21	chr12:12715400-12716400	Active TSS	Brain Germinal Matrix	brain
22	chr12:12715800-12716400	Flanking Active TSS	Primary B cells from cord blood	blood
23	chr12:12715800-12716400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
24	chr12:12715800-12716400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr12:12716000-12716400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr12:12716000-12716400	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr12:12716000-12716400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
28	chr12:12716000-12716400	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
29	chr12:12716000-12716400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
30	chr12:12716000-12716400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
31	chr12:12716000-12716400	Flanking Active TSS	Primary hematopoietic stem cells	blood
32	chr12:12716000-12716400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
33	chr12:12716000-12716400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr12:12716000-12716400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr12:12716000-12716400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr12:12716000-12716400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr12:12716000-12716400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr12:12716000-12716400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr12:12716000-12716400	Flanking Active TSS	Adipose Nuclei	Adipose
40	chr12:12716000-12716400	Flanking Active TSS	Colon Smooth Muscle	Colon
41	chr12:12716000-12716400	Flanking Active TSS	Fetal Brain Female	brain
42	chr12:12716000-12716400	Flanking Active TSS	Fetal Heart	heart
43	chr12:12716000-12716400	Flanking Active TSS	Fetal Muscle Leg	muscle
44	chr12:12716000-12716400	Flanking Active TSS	Fetal Stomach	stomach
45	chr12:12716000-12716400	Flanking Active TSS	Thymus	Thymus
46	chr12:12716000-12716400	Flanking Active TSS	GM12878-XiMat	blood
47	chr12:12716000-12716400	Flanking Active TSS	HMEC	breast
48	chr12:12716000-12716400	Flanking Active TSS	HUVEC	blood vessel
49	chr12:12716000-12716400	Flanking Active TSS	K562	blood
50	chr12:12716000-12716400	Flanking Active TSS	NH-A	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links