Variant report

Variant	rs1863895
Chromosome Location	chr12:30948376-30948377
allele	A/G
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	ETS1	chr12:30948149-30948896	A549	lung:	n/a	n/a
2	FOS	chr12:30947544-30948459	MCF10A-Er-Src	breast:	n/a	chr12:30948298-30948307 chr12:30948078-30948088 chr12:30948078-30948088 chr12:30948297-30948306 chr12:30948078-30948088 chr12:30948077-30948088 chr12:30948078-30948088
3	ESR1	chr12:30948071-30948412	ECC-1	luminal epithelium:	n/a	n/a
4	CTCF	chr12:30948360-30948510	HCT-116	colon:	n/a	n/a
5	MAX	chr12:30947908-30949830	ECC-1	luminal epithelium:	n/a	chr12:30948363-30948372 chr12:30948105-30948115 chr12:30948297-30948306 chr12:30949347-30949356
6	FOS	chr12:30947464-30948637	MCF10A-Er-Src	breast:	n/a	chr12:30948298-30948307 chr12:30948078-30948088 chr12:30948078-30948088 chr12:30948297-30948306 chr12:30948078-30948088 chr12:30948077-30948088 chr12:30948078-30948088
7	MYC	chr12:30947587-30949584	NB4	blood:	n/a	chr12:30948363-30948372 chr12:30948105-30948115 chr12:30948297-30948306 chr12:30949347-30949356
8	POLR2A	chr12:30948221-30948997	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr12:30947455-30950217	HUVEC	blood vessel:	n/a	n/a
10	ZBTB7A	chr12:30947681-30950078	ECC-1	luminal epithelium:	n/a	chr12:30948413-30948420
11	RCOR1	chr12:30947587-30949535	Hela-S3	cervix:	n/a	n/a
12	HDAC2	chr12:30948185-30948477	H1-hESC	embryonic stem cell:	n/a	chr12:30948237-30948251 chr12:30948239-30948253 chr12:30948240-30948254 chr12:30948241-30948255 chr12:30948236-30948250
13	FOSL1	chr12:30947956-30948390	K562	blood:	n/a	chr12:30948298-30948307 chr12:30948078-30948088 chr12:30948078-30948088 chr12:30948297-30948306 chr12:30948078-30948088 chr12:30948078-30948088
14	ELK4	chr12:30947692-30948447	Hela-S3	cervix:	n/a	n/a
15	STAT3	chr12:30947613-30948390	Hela-S3	cervix:	n/a	chr12:30948298-30948307
16	NR3C1	chr12:30947469-30948798	A549	lung:	n/a	chr12:30948079-30948088 chr12:30948373-30948386
17	PBX3	chr12:30947925-30949231	A549	lung:	n/a	n/a
18	TEAD4	chr12:30947820-30949273	ECC-1	luminal epithelium:	n/a	n/a
19	MAFK	chr12:30947721-30949552	Hela-S3	cervix:	n/a	chr12:30948077-30948086
20	POLR2A	chr12:30947518-30949699	U87	brain:	n/a	n/a
21	POLR2A	chr12:30947579-30950081	HUVEC	blood vessel:	n/a	n/a
22	MYC	chr12:30948253-30948430	Hela-S3	cervix:	n/a	chr12:30948363-30948372 chr12:30948297-30948306
23	POLR2A	chr12:30947662-30949621	PANC-1	pancreas:	n/a	n/a
24	MYC	chr12:30948173-30948434	H1-hESC	embryonic stem cell:	n/a	chr12:30948363-30948372 chr12:30948297-30948306
25	MYC	chr12:30947622-30949655	Hela-S3	cervix:	n/a	chr12:30948363-30948372 chr12:30948105-30948115 chr12:30948297-30948306 chr12:30949347-30949356
26	GABPA	chr12:30947798-30948524	A549	lung:	n/a	n/a
27	FOXM1	chr12:30947622-30949535	ECC-1	luminal epithelium:	n/a	chr12:30948025-30948033
28	MAX	chr12:30947459-30950381	A549	lung:	n/a	chr12:30948363-30948372 chr12:30948105-30948115 chr12:30948297-30948306 chr12:30949347-30949356
29	JUND	chr12:30947636-30949191	SK-N-SH	brain:	n/a	chr12:30948296-30948307 chr12:30948298-30948307 chr12:30948078-30948088 chr12:30948078-30948088 chr12:30948297-30948306 chr12:30948078-30948088 chr12:30948078-30948088
30	EGR1	chr12:30947585-30949597	HCT-116	colon:	n/a	chr12:30948109-30948118 chr12:30948106-30948119 chr12:30949166-30949180
31	POLR2A	chr12:30948099-30949636	H1-hESC	embryonic stem cell:	n/a	n/a
32	CTCF	chr12:30948280-30948430	SAEC	small airway:	n/a	n/a
33	NFIC	chr12:30947704-30949418	ECC-1	luminal epithelium:	n/a	n/a
34	ZKSCAN1	chr12:30947610-30949576	Hela-S3	cervix:	n/a	n/a
35	PBX3	chr12:30947711-30949544	SK-N-SH	brain:	n/a	n/a
36	ZNF263	chr12:30948167-30950323	HEK293-T-REx	kidney:	n/a	chr12:30949957-30949966
37	POLR2A	chr12:30948030-30949713	ECC-1	luminal epithelium:	n/a	n/a
38	NR3C1	chr12:30948018-30948702	A549	lung:	n/a	chr12:30948079-30948088 chr12:30948373-30948386
39	MAX	chr12:30947836-30949690	SK-N-SH	brain:	n/a	chr12:30948363-30948372 chr12:30948105-30948115 chr12:30948297-30948306 chr12:30949347-30949356
40	POLR2A	chr12:30947727-30949517	NB4	blood:	n/a	n/a
41	POLR2A	chr12:30947330-30950355	Hela-S3	cervix:	n/a	n/a
42	POLR2A	chr12:30948002-30949714	ECC-1	luminal epithelium:	n/a	n/a
43	E2F6	chr12:30948328-30949714	H1-hESC	embryonic stem cell:	n/a	chr12:30949341-30949351 chr12:30949269-30949279 chr12:30949210-30949219 chr12:30948414-30948426
44	MAX	chr12:30948035-30949333	A549	lung:	n/a	chr12:30948363-30948372 chr12:30948105-30948115 chr12:30948297-30948306
45	TBP	chr12:30947584-30950261	Hela-S3	cervix:	n/a	n/a
46	SRF	chr12:30947970-30949708	ECC-1	luminal epithelium:	n/a	n/a
47	RAD21	chr12:30947815-30949736	ECC-1	luminal epithelium:	n/a	n/a
48	YY1	chr12:30947812-30948867	HCT-116	colon:	n/a	n/a
49	POLR2A	chr12:30947972-30949758	H1-hESC	embryonic stem cell:	n/a	n/a
50	NR3C1	chr12:30948008-30948470	ECC-1	luminal epithelium:	n/a	chr12:30948079-30948088 chr12:30948373-30948386

No.	Distal block	Cell Line	Cell type
1	chr12:30948318..30949245-chr21:38444871..38445453,2	Hela-S3	cervix:
2	chr12:30907673..30908756-chr12:30947349..30948500,4	Hela-S3	cervix:
3	chr12:30948191..30948886-chr14:75745230..75745909,2	Hela-S3	cervix:
4	chr12:30948036..30948657-chr17:79849063..79849648,2	Hela-S3	cervix:
5	chr10:70091750..70092303-chr12:30948047..30948618,2	Hela-S3	cervix:
6	chr1:149223540..149224384-chr12:30948093..30948869,3	Hela-S3	cervix:
7	chr12:30948297..30949147-chr20:24972886..24973794,2	Hela-S3	cervix:
8	chr12:30948318..30948859-chrX:23685091..23685901,2	Hela-S3	cervix:
9	chr12:30948128..30948988-chr6:26043445..26044043,2	Hela-S3	cervix:
10	chr12:30948101..30948886-chr7:139025924..139026505,2	Hela-S3	cervix:
11	chr12:30948135..30948648-chr7:32931570..32932407,2	Hela-S3	cervix:
12	chr12:30947992..30948951-chrX:16737416..16738059,2	Hela-S3	cervix:
13	chr12:30948164..30949048-chr16:30006384..30007103,2	Hela-S3	cervix:
14	chr1:109289250..109290003-chr12:30948238..30948807,2	Hela-S3	cervix:

Variant related genes	Relation type
LINC00941	TF binding region
ENSG00000206737	Chromatin interaction
ENSG00000170852	Chromatin interaction
ENSG00000169592	Chromatin interaction
ENSG00000096746	Chromatin interaction
ENSG00000196226	Chromatin interaction
ENSG00000110888	Chromatin interaction
ENSG00000185808	Chromatin interaction
ENSG00000183684	Chromatin interaction
ENSG00000269955	Chromatin interaction
ENSG00000116266	Chromatin interaction
ENSG00000169895	Chromatin interaction
ENSG00000149929	Chromatin interaction
ENSG00000123131	Chromatin interaction
ENSG00000101474	Chromatin interaction
ENSG00000246331	Chromatin interaction
ENSG00000170345	Chromatin interaction
ENSG00000141552	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs17739338	1.00[ASW][hapmap]

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	esv3343291	chr12:30455597-30992837	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv832361	chr12:30794030-30997241	Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv949148	chr12:30800040-31131712	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	esv34091	chr12:30927650-31061815	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:30945000-30948400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:30945200-30948400	Enhancers	H1 Cell Line	embryonic stem cell
3	chr12:30945200-30948400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr12:30945600-30948400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr12:30945800-30948400	Weak transcription	Esophagus	oesophagus
6	chr12:30945800-30948400	Weak transcription	Psoas Muscle	Psoas
7	chr12:30946000-30948400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr12:30946200-30948400	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr12:30946400-30948600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr12:30946600-30948400	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr12:30947000-30948400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
12	chr12:30947400-30949000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
13	chr12:30947600-30948400	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
14	chr12:30947600-30948400	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr12:30947600-30948600	Flanking Active TSS	A549	lung
16	chr12:30947600-30948600	Flanking Active TSS	NH-A	brain
17	chr12:30947600-30948600	Flanking Active TSS	Osteobl	bone
18	chr12:30947600-30948800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
19	chr12:30947600-30948800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr12:30947600-30948800	Flanking Bivalent TSS/Enh	HepG2	liver
21	chr12:30947600-30948800	Enhancers	K562	blood
22	chr12:30947600-30949200	Flanking Active TSS	HUVEC	blood vessel
23	chr12:30947600-30949400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr12:30947600-30949400	Flanking Active TSS	HMEC	breast
25	chr12:30947600-30950200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr12:30947800-30948400	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr12:30947800-30948400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr12:30947800-30948400	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr12:30947800-30948400	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
30	chr12:30947800-30948400	Bivalent Enhancer	Fetal Muscle Leg	muscle
31	chr12:30947800-30948400	Enhancers	Pancreas	Pancrea
32	chr12:30947800-30948400	Enhancers	HSMMtube	muscle
33	chr12:30947800-30948400	Enhancers	NHDF-Ad	bronchial
34	chr12:30947800-30948600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
35	chr12:30947800-30948800	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr12:30947800-30948800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr12:30947800-30949200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr12:30947800-30949400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr12:30947800-30949800	Flanking Active TSS	Primary hematopoietic stem cells	blood
40	chr12:30948000-30948400	Enhancers	Stomach Smooth Muscle	stomach
41	chr12:30948000-30948400	Enhancers	NHEK	skin
42	chr12:30948000-30948400	Enhancers	NHLF	lung
43	chr12:30948000-30948600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr12:30948000-30948600	Bivalent Enhancer	Fetal Intestine Large	intestine
45	chr12:30948000-30948600	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
46	chr12:30948000-30949000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr12:30948000-30950000	Active TSS	HUES64 Cell Line	embryonic stem cell
48	chr12:30948000-30950000	Active TSS	Hela-S3	cervix
49	chr12:30948000-30950200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr12:30948000-30950400	Active TSS	ES-I3 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links