Variant report

Variant	rs111373418
Chromosome Location	chr18:12307263-12307264
allele	A/C
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	MAX	chr18:12307154-12308384	NB4	blood:	n/a	chr18:12308001-12308011
2	SIN3A	chr18:12307178-12309035	H1-hESC	embryonic stem cell:	n/a	chr18:12308357-12308370
3	POLR2A	chr18:12307196-12309126	ProgFib	skin:	n/a	n/a
4	POLR2A	chr18:12307224-12307770	U87	brain:	n/a	n/a
5	POLR2A	chr18:12307140-12311108	MCF10A-Er-Src	breast:	n/a	n/a
6	JUND	chr18:12307075-12309165	SK-N-SH	brain:	n/a	chr18:12307795-12307804 chr18:12308781-12308792
7	POLR2A	chr18:12304971-12316847	IMR90	lung:	n/a	n/a
8	MAFK	chr18:12307224-12307667	IMR90	lung:	n/a	n/a
9	CHD1	chr18:12306712-12310268	IMR90	lung:	n/a	chr18:12307601-12307611
10	MAFK	chr18:12307263-12307538	HepG2	liver:	n/a	n/a
11	POU2F2	chr18:12307178-12307421	GM12891	blood:	n/a	n/a
12	POLR2A	chr18:12307253-12309179	NB4	blood:	n/a	n/a
13	USF1	chr18:12307206-12307510	H1-hESC	embryonic stem cell:	n/a	chr18:12307319-12307340 chr18:12307323-12307336
14	MAZ	chr18:12306781-12309329	IMR90	lung:	n/a	chr18:12308001-12308011
15	MYC	chr18:12307129-12309115	NB4	blood:	n/a	chr18:12308001-12308011
16	POLR2A	chr18:12307184-12311267	U87	brain:	n/a	n/a
17	POLR2A	chr18:12307241-12311221	HUVEC	blood vessel:	n/a	n/a
18	POLR2A	chr18:12306708-12310326	U87	brain:	n/a	n/a
19	ZBTB7A	chr18:12307180-12307330	K562	blood:	n/a	n/a
20	FOS	chr18:12307254-12307268	MCF10A-Er-Src	breast:	n/a	n/a
21	MXI1	chr18:12307097-12310263	IMR90	lung:	n/a	n/a
22	POLR2A	chr18:12307119-12310305	HUVEC	blood vessel:	n/a	n/a
23	BHLHE40	chr18:12307140-12307571	GM12878	blood:	n/a	chr18:12307319-12307340 chr18:12307323-12307336
24	CTBP2	chr18:12306327-12308033	H1-hESC	embryonic stem cell:	n/a	n/a
25	POLR2A	chr18:12307249-12309328	HUVEC	blood vessel:	n/a	n/a
26	POLR2A	chr18:12307229-12309227	K562	blood:	n/a	n/a
27	MAX	chr18:12307215-12307451	H1-hESC	embryonic stem cell:	n/a	n/a
28	POLR2A	chr18:12307022-12309231	SK-N-MC	brain:	n/a	n/a
29	POLR2A	chr18:12307036-12310287	HUVEC	blood vessel:	n/a	n/a
30	ELF1	chr18:12307155-12307778	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr18:12305136..12307294-chr18:12373188..12375992,2	K562	blood:
2	chr18:12305088..12307512-chr18:12313207..12314857,2	MCF-7	breast:
3	chr18:12306558..12308875-chr18:12376128..12379112,4	MCF-7	breast:
4	chr18:12307184..12308743-chr18:12701040..12703824,2	K562	blood:
5	chr18:12306506..12308836-chr18:12701681..12703824,3	K562	blood:
6	chr18:12306891..12312604-chr18:12376208..12378768,5	K562	blood:
7	chr18:12305251..12310573-chr18:12373540..12378768,12	K562	blood:
8	chr18:12303398..12305461-chr18:12307257..12308973,2	MCF-7	breast:
9	chr18:12305189..12307531-chr18:12348513..12350554,2	K562	blood:

Variant related genes	Relation type
TUBB6	TF binding region
RNU6-170P	TF binding region
ENSG00000141385	Chromatin interaction
ENSG00000128789	Chromatin interaction
ENSG00000101624	Chromatin interaction
ENSG00000199702	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1063125	chr18:12046892-12918251	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	130 gene(s)	inside rSNPs	diseases
2	nsv491873	chr18:12159445-12739784	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
3	nsv909400	chr18:12201374-12585545	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
4	nsv909401	chr18:12211483-12312075	Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
5	nsv909402	chr18:12211483-12325222	Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
6	nsv909403	chr18:12231060-12325222	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
7	nsv1061545	chr18:12235999-12328405	Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
8	esv2758471	chr18:12240681-12499525	Flanking Active TSS Strong transcription ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
9	esv2758714	chr18:12240681-12499525	Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
10	nsv576496	chr18:12247872-12490502	Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
11	nsv1058661	chr18:12280366-12313865	Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
12	nsv1060808	chr18:12302792-12514417	Genic enhancers Weak transcription Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
13	esv3316265	chr18:12307177-12309725	Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	17 gene(s)	inside rSNPs	diseases
14	esv3316266	chr18:12307177-12309725	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12305600-12307800	Weak transcription	Pancreas	Pancrea
2	chr18:12306000-12307600	Flanking Active TSS	Stomach Smooth Muscle	stomach
3	chr18:12306200-12307400	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
4	chr18:12306200-12307400	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
5	chr18:12306200-12307400	Flanking Active TSS	NH-A	brain
6	chr18:12306400-12307600	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr18:12306400-12307600	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
8	chr18:12306400-12308000	Flanking Active TSS	Primary B cells from cord blood	blood
9	chr18:12306400-12309400	Active TSS	HSMMtube	muscle
10	chr18:12306600-12307600	Flanking Bivalent TSS/Enh	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr18:12306600-12307600	Flanking Active TSS	Adipose Nuclei	Adipose
12	chr18:12306600-12307600	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
13	chr18:12306600-12307600	Bivalent Enhancer	Stomach Mucosa	stomach
14	chr18:12306600-12307600	Flanking Active TSS	HMEC	breast
15	chr18:12306600-12307600	Flanking Active TSS	HUVEC	blood vessel
16	chr18:12306600-12309600	Active TSS	Right Atrium	heart
17	chr18:12306800-12307400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
18	chr18:12306800-12307400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
19	chr18:12306800-12307400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr18:12306800-12307400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr18:12306800-12307400	Enhancers	Spleen	Spleen
22	chr18:12306800-12307600	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr18:12306800-12307600	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
24	chr18:12306800-12307600	Flanking Active TSS	Fetal Muscle Trunk	muscle
25	chr18:12306800-12307600	Enhancers	K562	blood
26	chr18:12306800-12307800	Flanking Bivalent TSS/Enh	Primary B cells from peripheral blood	blood
27	chr18:12306800-12307800	Bivalent/Poised TSS	Primary T cells from cord blood	blood
28	chr18:12306800-12307800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr18:12306800-12307800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr18:12306800-12307800	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
31	chr18:12306800-12308000	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
32	chr18:12306800-12308600	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
33	chr18:12307000-12307400	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
34	chr18:12307000-12307400	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr18:12307000-12307400	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
36	chr18:12307000-12307400	Flanking Active TSS	Placenta Amnion	Placenta Amnion
37	chr18:12307000-12307400	Enhancers	NHEK	skin
38	chr18:12307000-12307600	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
39	chr18:12307000-12307600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
40	chr18:12307000-12307600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
41	chr18:12307000-12307600	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
42	chr18:12307000-12307600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
43	chr18:12307000-12307600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
44	chr18:12307000-12307600	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
45	chr18:12307000-12307600	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
46	chr18:12307000-12307800	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
47	chr18:12307000-12307800	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
48	chr18:12307000-12307800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
49	chr18:12307000-12307800	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
50	chr18:12307000-12307800	Flanking Active TSS	Fetal Muscle Leg	muscle

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