Variant report

Variant	rs7228231
Chromosome Location	chr18:11860179-11860180
allele	C/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	MAX	chr18:11859486-11860449	Hela-S3	cervix:	n/a	chr18:11860127-11860136 chr18:11859703-11859714 chr18:11860128-11860137
2	TFAP2A	chr18:11859184-11860522	Hela-S3	cervix:	n/a	chr18:11860249-11860264 chr18:11860250-11860261 chr18:11860250-11860261 chr18:11859485-11859495 chr18:11859511-11859522 chr18:11859483-11859497 chr18:11859485-11859495 chr18:11859485-11859495 chr18:11859485-11859500 chr18:11859483-11859497 chr18:11859485-11859495 chr18:11860250-11860261
3	ESR1	chr18:11859788-11860347	ECC-1	luminal epithelium:	n/a	n/a
4	TCF7L2	chr18:11859260-11860435	Hela-S3	cervix:	n/a	chr18:11859372-11859382 chr18:11859555-11859564 chr18:11859553-11859567 chr18:11859556-11859566 chr18:11860127-11860136
5	REST	chr18:11859776-11860368	A549	lung:	n/a	n/a
6	CEBPB	chr18:11859694-11860460	ECC-1	luminal epithelium:	n/a	n/a
7	POLR2A	chr18:11857099-11860426	Hela-S3	cervix:	n/a	n/a
8	CTCF	chr18:11860100-11860390	AG04450	lung:	n/a	n/a
9	TCF12	chr18:11859886-11860305	A549	lung:	n/a	n/a
10	MYC	chr18:11860021-11860182	HUVEC	blood vessel:	n/a	chr18:11860127-11860136 chr18:11860128-11860137
11	RPC155	chr18:11859369-11860213	Hela-S3	cervix:	n/a	n/a
12	CTCF	chr18:11860140-11860290	HL-60	blood:	n/a	n/a
13	JUND	chr18:11859835-11860411	A549	lung:	n/a	chr18:11860127-11860136 chr18:11860128-11860135 chr18:11860376-11860385 chr18:11860128-11860136 chr18:11860126-11860138 chr18:11860126-11860137 chr18:11860127-11860137
14	GABPA	chr18:11859939-11860396	A549	lung:	n/a	n/a
15	JUN	chr18:11859945-11860314	K562	blood:	n/a	chr18:11860127-11860136 chr18:11860128-11860135 chr18:11860128-11860136 chr18:11860126-11860138 chr18:11860127-11860137
16	BCL3	chr18:11859828-11860303	A549	lung:	n/a	chr18:11860127-11860136 chr18:11860128-11860137
17	FOS	chr18:11859850-11860682	MCF10A-Er-Src	breast:	n/a	chr18:11860127-11860136 chr18:11860128-11860135 chr18:11860376-11860385 chr18:11860126-11860137 chr18:11860128-11860136 chr18:11860126-11860138 chr18:11860127-11860137
18	EP300	chr18:11859867-11860467	Hela-S3	cervix:	n/a	chr18:11860128-11860137 chr18:11860127-11860136
19	MAX	chr18:11859998-11860440	A549	lung:	n/a	chr18:11860127-11860136 chr18:11860128-11860137
20	JUND	chr18:11859791-11860491	HCT-116	colon:	n/a	chr18:11860127-11860136 chr18:11860128-11860135 chr18:11860376-11860385 chr18:11860128-11860136 chr18:11860126-11860138 chr18:11860126-11860137 chr18:11860127-11860137
21	JUN	chr18:11860016-11860270	HepG2	liver:	n/a	chr18:11860127-11860136 chr18:11860128-11860135 chr18:11860128-11860136 chr18:11860126-11860138 chr18:11860127-11860137
22	CTCF	chr18:11860134-11860541	IMR90	lung:	n/a	n/a
23	POLR2A	chr18:11859922-11860293	HCT-116	colon:	n/a	n/a
24	USF1	chr18:11859889-11860370	A549	lung:	n/a	n/a
25	MAX	chr18:11859142-11860436	Hela-S3	cervix:	n/a	chr18:11860127-11860136 chr18:11859703-11859714 chr18:11860128-11860137
26	NR2F2	chr18:11859809-11860580	MCF-7	breast:	n/a	n/a
27	MAX	chr18:11860010-11860200	HepG2	liver:	n/a	chr18:11860127-11860136 chr18:11860128-11860137
28	EP300	chr18:11859720-11860578	A549	lung:	n/a	chr18:11860128-11860137 chr18:11860127-11860136
29	FOS	chr18:11859911-11860444	Hela-S3	cervix:	n/a	chr18:11860127-11860136 chr18:11860128-11860135 chr18:11860376-11860385 chr18:11860126-11860137 chr18:11860128-11860136 chr18:11860126-11860138 chr18:11860127-11860137
30	SRF	chr18:11859830-11860477	ECC-1	luminal epithelium:	n/a	chr18:11860414-11860427
31	FOXA2	chr18:11860011-11860419	A549	lung:	n/a	n/a
32	POLR2A	chr18:11859869-11860347	HUVEC	blood vessel:	n/a	n/a
33	CHD2	chr18:11859250-11860398	Hela-S3	cervix:	n/a	n/a
34	TAF1	chr18:11859845-11860363	Hela-S3	cervix:	n/a	n/a
35	FOSL2	chr18:11859922-11860354	HepG2	liver:	n/a	chr18:11860127-11860136 chr18:11860128-11860135 chr18:11860128-11860136 chr18:11860127-11860138 chr18:11860126-11860138 chr18:11860127-11860137
36	ZNF143	chr18:11860106-11860473	K562	blood:	n/a	n/a
37	RCOR1	chr18:11860034-11860353	HepG2	liver:	n/a	n/a
38	FOSL2	chr18:11859822-11860496	A549	lung:	n/a	chr18:11860127-11860136 chr18:11860128-11860135 chr18:11860376-11860385 chr18:11860128-11860136 chr18:11860127-11860138 chr18:11860126-11860138 chr18:11860127-11860137
39	TCF12	chr18:11859773-11860404	SK-N-SH	brain:	n/a	n/a
40	MYC	chr18:11859767-11860429	MCF10A-Er-Src	breast:	n/a	chr18:11860127-11860136 chr18:11860128-11860137
41	POLR2A	chr18:11857027-11860404	Hela-S3	cervix:	n/a	n/a
42	MYC	chr18:11859987-11860223	MCF-7	breast:	n/a	chr18:11860127-11860136 chr18:11860128-11860137
43	FOSL1	chr18:11859864-11860498	HCT-116	colon:	n/a	chr18:11860127-11860136 chr18:11860128-11860135 chr18:11860376-11860385 chr18:11860128-11860136 chr18:11860126-11860137 chr18:11860126-11860138 chr18:11860127-11860137
44	ESR1	chr18:11859809-11860402	ECC-1	luminal epithelium:	n/a	n/a
45	GATA3	chr18:11859874-11860422	A549	lung:	n/a	chr18:11860129-11860138
46	POLR2A	chr18:11849742-11860299	MCF10A-Er-Src	breast:	n/a	n/a
47	ZNF217	chr18:11859998-11860414	MCF-7	breast:	n/a	n/a
48	CEBPB	chr18:11859414-11860428	Hela-S3	cervix:	n/a	n/a
49	MYC	chr18:11859854-11860471	MCF10A-Er-Src	breast:	n/a	chr18:11860127-11860136 chr18:11860128-11860137
50	GTF2F1	chr18:11859197-11860473	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:11849561..11851413-chr18:11859550..11861072,2	K562	blood:
2	chr18:11740510..11743051-chr18:11858756..11861303,2	K562	blood:

Variant related genes	Relation type
ENSG00000272703	TF binding region
ENSG00000255112	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11875788	1.00[CEU][hapmap]
rs1249628	1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs16976742	1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs16976746	1.00[CEU][hapmap]
rs16976749	1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs3885902	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4371220	1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs5018698	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5018699	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5018701	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5018702	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5018703	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5018704	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61462499	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62097389	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs715688	1.00[ASN][1000 genomes]
rs7234436	1.00[CEU][hapmap]
rs7239927	1.00[CEU][hapmap]
rs7240842	1.00[CEU][hapmap]
rs7241172	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7241199	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7241336	0.91[ASN][1000 genomes]
rs7244948	1.00[CEU][hapmap]
rs73409587	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73409590	1.00[ASN][1000 genomes]
rs73944918	0.95[ASN][1000 genomes]
rs73944920	0.95[ASN][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	esv3362008	chr18:11647654-11959830	Active TSS Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv833590	chr18:11757329-11924539	Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv1055453	chr18:11776790-12110135	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
4	nsv543654	chr18:11776790-12110135	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:11852400-11880800	Weak transcription	Aorta	Aorta
2	chr18:11853600-11883800	Weak transcription	Ovary	ovary
3	chr18:11853800-11861000	Weak transcription	Fetal Lung	lung
4	chr18:11853800-11884200	Weak transcription	Brain Substantia Nigra	brain
5	chr18:11854000-11861600	Weak transcription	Spleen	Spleen
6	chr18:11854000-11875000	Weak transcription	Brain Hippocampus Middle	brain
7	chr18:11854000-11884200	Weak transcription	Brain Angular Gyrus	brain
8	chr18:11854200-11868200	Weak transcription	Primary B cells from peripheral blood	blood
9	chr18:11854400-11868400	Weak transcription	Primary B cells from cord blood	blood
10	chr18:11854800-11889200	Weak transcription	Fetal Brain Male	brain
11	chr18:11855400-11860200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr18:11855400-11875400	Weak transcription	Fetal Stomach	stomach
13	chr18:11855600-11880800	Weak transcription	Fetal Brain Female	brain
14	chr18:11856600-11861600	Weak transcription	Gastric	stomach
15	chr18:11856600-11865000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr18:11857000-11860800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr18:11857400-11860200	Weak transcription	Small Intestine	intestine
18	chr18:11857600-11860800	Enhancers	HUVEC	blood vessel
19	chr18:11857600-11860800	Enhancers	Osteobl	bone
20	chr18:11857600-11872800	Weak transcription	Left Ventricle	heart
21	chr18:11857800-11860200	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr18:11857800-11860400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr18:11857800-11860600	Enhancers	NHDF-Ad	bronchial
24	chr18:11857800-11861000	Enhancers	Duodenum Mucosa	Duodenum
25	chr18:11857800-11861200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr18:11857800-11861400	Weak transcription	Right Atrium	heart
27	chr18:11857800-11861800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr18:11857800-11862800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr18:11857800-11866000	Weak transcription	Brain Anterior Caudate	brain
30	chr18:11857800-11867000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr18:11857800-11868400	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr18:11857800-11875200	Weak transcription	Brain Germinal Matrix	brain
33	chr18:11857800-11876400	Weak transcription	Brain Cingulate Gyrus	brain
34	chr18:11858000-11860200	Enhancers	HepG2	liver
35	chr18:11858000-11862200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr18:11858000-11865000	Weak transcription	Stomach Smooth Muscle	stomach
37	chr18:11858000-11868400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr18:11858000-11868400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr18:11858200-11862000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr18:11858200-11884000	Weak transcription	Colon Smooth Muscle	Colon
41	chr18:11858400-11860800	Enhancers	NH-A	brain
42	chr18:11858600-11862400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr18:11858600-11868400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr18:11858600-11875800	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr18:11858600-11879400	Weak transcription	Adipose Nuclei	Adipose
46	chr18:11858800-11860200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr18:11858800-11861000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr18:11858800-11861200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr18:11859000-11886400	Weak transcription	H1 Cell Line	embryonic stem cell
50	chr18:11859200-11860200	Enhancers	Right Ventricle	heart

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