Variant report

Variant	rs793191
Chromosome Location	chr12:31523856-31523857
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	TAF7	chr12:31523802-31524404	H1-hESC	embryonic stem cell:	n/a	n/a
2	ZNF263	chr12:31522544-31524392	HEK293-T-REx	kidney:	n/a	chr12:31523877-31523886
3	EP300	chr12:31523836-31524033	HepG2	liver:	n/a	n/a
4	GTF2F1	chr12:31523786-31524167	H1-hESC	embryonic stem cell:	n/a	n/a
5	JUND	chr12:31523524-31523900	K562	blood:	n/a	n/a
6	HEY1	chr12:31523657-31524210	HepG2	liver:	n/a	n/a
7	TEAD4	chr12:31523643-31524473	HepG2	liver:	n/a	n/a
8	TAF1	chr12:31523511-31524308	H1-hESC	embryonic stem cell:	n/a	n/a
9	SIN3A	chr12:31523564-31524441	H1-hESC	embryonic stem cell:	n/a	n/a
10	RCOR1	chr12:31523491-31523952	K562	blood:	n/a	n/a
11	HEY1	chr12:31523612-31524175	HepG2	liver:	n/a	n/a
12	CHD1	chr12:31521706-31524671	H1-hESC	embryonic stem cell:	n/a	n/a
13	SPI1	chr12:31523480-31523879	HL-60	blood:	n/a	chr12:31523644-31523657 chr12:31523646-31523653
14	POLR2A	chr12:31523156-31524264	HepG2	liver:	n/a	n/a
15	MXI1	chr12:31523764-31524154	H1-hESC	embryonic stem cell:	n/a	n/a
16	BHLHE40	chr12:31523424-31524225	K562	blood:	n/a	n/a
17	TBP	chr12:31523488-31524563	H1-hESC	embryonic stem cell:	n/a	n/a
18	EP300	chr12:31523747-31524172	H1-hESC	embryonic stem cell:	n/a	n/a
19	YY1	chr12:31523484-31524147	H1-hESC	embryonic stem cell:	n/a	n/a
20	POLR2A	chr12:31522641-31524622	H1-hESC	embryonic stem cell:	n/a	n/a
21	TEAD4	chr12:31523446-31523943	K562	blood:	n/a	n/a
22	TAF1	chr12:31523770-31524266	H1-hESC	embryonic stem cell:	n/a	n/a
23	JUND	chr12:31523834-31524069	H1-hESC	embryonic stem cell:	n/a	n/a
24	TEAD4	chr12:31523711-31524171	H1-hESC	embryonic stem cell:	n/a	n/a
25	MAZ	chr12:31523829-31524018	HepG2	liver:	n/a	n/a
26	CEBPB	chr12:31523475-31524255	H1-hESC	embryonic stem cell:	n/a	n/a
27	NR2F2	chr12:31523623-31524248	HepG2	liver:	n/a	n/a
28	CHD2	chr12:31523848-31524082	HepG2	liver:	n/a	n/a
29	JUND	chr12:31522733-31524476	H1-hESC	embryonic stem cell:	n/a	n/a
30	MAZ	chr12:31523513-31523926	K562	blood:	n/a	n/a
31	RAD21	chr12:31523667-31524232	H1-hESC	embryonic stem cell:	n/a	n/a
32	TEAD4	chr12:31523758-31524477	H1-hESC	embryonic stem cell:	n/a	n/a
33	ARID3A	chr12:31523752-31524257	HepG2	liver:	n/a	n/a
34	CHD2	chr12:31523037-31524401	H1-hESC	embryonic stem cell:	n/a	n/a
35	RXRA	chr12:31523800-31524134	H1-hESC	embryonic stem cell:	n/a	chr12:31523917-31523931 chr12:31523918-31523931 chr12:31523918-31523931 chr12:31523915-31523935 chr12:31523918-31523931
36	TBP	chr12:31523796-31524463	HepG2	liver:	n/a	n/a
37	BACH1	chr12:31523808-31524448	H1-hESC	embryonic stem cell:	n/a	n/a
38	HDAC2	chr12:31523789-31524341	HepG2	liver:	n/a	n/a
39	POLR2A	chr12:31523706-31524465	H1-hESC	embryonic stem cell:	n/a	n/a
40	CTBP2	chr12:31523699-31524089	H1-hESC	embryonic stem cell:	n/a	n/a
41	SP1	chr12:31523495-31524559	H1-hESC	embryonic stem cell:	n/a	chr12:31523882-31523896
42	KAP1	chr12:31522644-31524373	HEK293	kidney:	n/a	n/a
43	TCF12	chr12:31523799-31524097	H1-hESC	embryonic stem cell:	n/a	chr12:31523845-31523855
44	HNF4A	chr12:31523791-31524193	HepG2	liver:	n/a	chr12:31524031-31524046 chr12:31523918-31523932 chr12:31524032-31524045 chr12:31523919-31523931 chr12:31524033-31524045 chr12:31524031-31524046 chr12:31524031-31524046
45	MYC	chr12:31523516-31523929	K562	blood:	n/a	n/a
46	POLR2A	chr12:31521505-31524812	H1-hESC	embryonic stem cell:	n/a	n/a
47	POLR2A	chr12:31523130-31524383	H1-hESC	embryonic stem cell:	n/a	n/a
48	YY1	chr12:31523618-31524196	H1-hESC	embryonic stem cell:	n/a	n/a
49	HNF4G	chr12:31523798-31524311	HepG2	liver:	n/a	chr12:31524031-31524046 chr12:31524032-31524047 chr12:31523918-31523932 chr12:31524032-31524045 chr12:31523919-31523931 chr12:31524033-31524045 chr12:31524031-31524046
50	POLR2A	chr12:31523571-31524251	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
ENSG00000256232	TF binding region

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs1150942	0.82[CEU][hapmap];0.84[CHB][hapmap];0.82[JPT][hapmap];0.81[AMR][1000 genomes]
rs1150943	0.84[AMR][1000 genomes]
rs1150945	0.84[AMR][1000 genomes]
rs1150953	0.81[CEU][hapmap]
rs1150954	0.95[CEU][hapmap];0.84[CHB][hapmap];0.82[JPT][hapmap];0.84[AMR][1000 genomes]
rs1150955	0.85[CEU][hapmap];0.85[CHB][hapmap];0.82[JPT][hapmap];0.84[AMR][1000 genomes]
rs1150963	0.81[AMR][1000 genomes]
rs1259233	0.84[AMR][1000 genomes]
rs1259235	0.82[CEU][hapmap]
rs1259241	0.81[AMR][1000 genomes]
rs1259353	0.84[AMR][1000 genomes]
rs1259354	0.80[AMR][1000 genomes]
rs1259405	0.90[CEU][hapmap]
rs1259409	0.94[CEU][hapmap];0.84[CHB][hapmap]
rs1259435	0.81[AMR][1000 genomes]
rs1259437	0.90[CEU][hapmap];0.85[CHB][hapmap];0.82[JPT][hapmap];0.84[AMR][1000 genomes]
rs1259438	0.84[AMR][1000 genomes]
rs1259441	0.84[AMR][1000 genomes]
rs1262390	0.84[AMR][1000 genomes]
rs1272773	0.90[CEU][hapmap];0.85[CHB][hapmap];0.82[JPT][hapmap];0.84[AMR][1000 genomes]
rs1716216	0.81[CEU][hapmap]
rs2061761	0.90[CEU][hapmap]
rs2374190	0.80[CEU][hapmap];0.92[CHB][hapmap]
rs2568887	0.90[CEU][hapmap];0.91[CHB][hapmap];0.82[JPT][hapmap];0.90[AMR][1000 genomes]
rs2568894	0.87[AMR][1000 genomes]
rs2568902	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2617178	0.90[AMR][1000 genomes]
rs2617191	0.81[CEU][hapmap];0.85[CHB][hapmap];0.82[JPT][hapmap];0.84[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs2617200	0.82[CEU][hapmap]
rs2682671	0.90[AMR][1000 genomes]
rs2682677	0.87[AMR][1000 genomes]
rs2682679	0.81[AMR][1000 genomes]
rs2682695	0.90[CEU][hapmap];0.92[CHB][hapmap];0.82[JPT][hapmap];0.90[AMR][1000 genomes]
rs2682697	0.84[CHB][hapmap]
rs708200	0.92[CHB][hapmap];0.82[JPT][hapmap];0.83[ASN][1000 genomes]
rs708212	0.90[CEU][hapmap];0.93[CHB][hapmap];0.82[JPT][hapmap];0.90[AMR][1000 genomes]
rs708215	0.90[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs708217	0.90[CEU][hapmap];0.93[CHB][hapmap];0.82[JPT][hapmap];0.90[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs792871	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs792875	0.90[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs793148	0.90[CEU][hapmap];0.92[CHB][hapmap];0.82[JPT][hapmap];0.90[AMR][1000 genomes]
rs793149	0.90[AMR][1000 genomes]
rs793150	0.90[CEU][hapmap];0.93[CHB][hapmap];0.82[JPT][hapmap];0.87[AMR][1000 genomes]
rs793158	0.90[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes]
rs793161	0.90[CEU][hapmap];0.92[CHB][hapmap];0.82[JPT][hapmap];0.90[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs793171	0.82[CEU][hapmap]
rs793173	0.84[AMR][1000 genomes]
rs793174	0.90[CEU][hapmap];0.85[CHB][hapmap];0.82[JPT][hapmap];0.84[AMR][1000 genomes]
rs793177	0.85[CHB][hapmap];0.82[JPT][hapmap];0.81[AMR][1000 genomes]
rs793186	0.90[CEU][hapmap];0.85[CHB][hapmap];0.82[JPT][hapmap];0.87[AMR][1000 genomes]
rs899159	0.85[CHB][hapmap];0.82[JPT][hapmap]
rs976874	0.84[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1041877	chr12:31009451-31809254	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv541440	chr12:31009451-31809254	ZNF genes & repeats Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
3	esv2751046	chr12:31174233-31684733	Bivalent Enhancer Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	nsv832364	chr12:31467990-31648144	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:31521200-31524600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr12:31521600-31524200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr12:31521600-31524400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr12:31521600-31524400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr12:31521600-31524400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
6	chr12:31521600-31524400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
7	chr12:31521600-31524400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
8	chr12:31521600-31524400	Flanking Active TSS	HepG2	liver
9	chr12:31521600-31524600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
10	chr12:31521600-31524800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr12:31522200-31524200	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr12:31522200-31524600	Enhancers	A549	lung
13	chr12:31522400-31524400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr12:31522400-31524600	Flanking Active TSS	Fetal Intestine Small	intestine
15	chr12:31522600-31524000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr12:31522600-31524200	Flanking Active TSS	Fetal Kidney	kidney
17	chr12:31522600-31524400	Flanking Active TSS	H1 Cell Line	embryonic stem cell
18	chr12:31522600-31524400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr12:31522600-31524400	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr12:31522600-31524800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
21	chr12:31522800-31524200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
22	chr12:31522800-31524200	Active TSS	Rectal Smooth Muscle	rectum
23	chr12:31522800-31524400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
24	chr12:31522800-31524400	Flanking Active TSS	Fetal Intestine Large	intestine
25	chr12:31523000-31524000	Flanking Active TSS	Adipose Nuclei	Adipose
26	chr12:31523000-31524000	Active TSS	Duodenum Smooth Muscle	Duodenum
27	chr12:31523000-31524400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr12:31523000-31524400	Enhancers	Brain Germinal Matrix	brain
29	chr12:31523000-31524600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
30	chr12:31523200-31524000	Enhancers	Lung	lung
31	chr12:31523200-31524000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
32	chr12:31523200-31524200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
33	chr12:31523200-31524200	Enhancers	NH-A	brain
34	chr12:31523200-31524400	Flanking Active TSS	Duodenum Mucosa	Duodenum
35	chr12:31523200-31524600	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
36	chr12:31523400-31524000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr12:31523400-31524000	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
38	chr12:31523400-31524000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr12:31523400-31524000	Enhancers	Liver	Liver
40	chr12:31523400-31524000	Enhancers	Fetal Thymus	thymus
41	chr12:31523400-31524400	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
42	chr12:31523400-31524600	Enhancers	Placenta	Placenta
43	chr12:31523400-31524600	Enhancers	HUVEC	blood vessel
44	chr12:31523400-31537600	Weak transcription	Fetal Brain Female	brain
45	chr12:31523600-31524000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr12:31523600-31524000	Active TSS	Brain Anterior Caudate	brain
47	chr12:31523600-31524000	Enhancers	Fetal Muscle Trunk	muscle
48	chr12:31523600-31524000	Enhancers	Left Ventricle	heart
49	chr12:31523600-31524000	Enhancers	Psoas Muscle	Psoas
50	chr12:31523600-31524000	Enhancers	Small Intestine	intestine

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