Variant report

Variant	rs7241431
Chromosome Location	chr18:11850663-11850664
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	POLR2A	chr18:11849832-11852148	K562	blood:	n/a	n/a
2	GATA1	chr18:11850242-11851693	PBDE	blood:	n/a	chr18:11851398-11851408
3	POLR2A	chr18:11849544-11856636	Hela-S3	cervix:	n/a	n/a
4	MXI1	chr18:11849962-11852318	Hela-S3	cervix:	n/a	n/a
5	TBL1XR1	chr18:11849929-11852210	K562	blood:	n/a	n/a
6	JUN	chr18:11849448-11852755	K562	blood:	n/a	chr18:11851364-11851377 chr18:11851365-11851374 chr18:11850578-11850589
7	ZMIZ1	chr18:11849967-11851617	K562	blood:	n/a	n/a
8	POLR2A	chr18:11849708-11855634	Hela-S3	cervix:	n/a	n/a
9	RELA	chr18:11850270-11851850	GM18505	blood:	n/a	n/a
10	CHD1	chr18:11849434-11853974	IMR90	lung:	n/a	n/a
11	EP300	chr18:11850304-11851458	K562	blood:	n/a	chr18:11851424-11851440 chr18:11851396-11851410 chr18:11851397-11851406
12	POLR2A	chr18:11850644-11852062	GM12878	blood:	n/a	n/a
13	POLR2A	chr18:11849786-11855757	A549	lung:	n/a	n/a
14	MAFK	chr18:11849905-11850769	K562	blood:	n/a	chr18:11850521-11850535 chr18:11850522-11850533
15	POLR2A	chr18:11850587-11851967	HepG2	liver:	n/a	n/a
16	EP300	chr18:11850019-11851556	GM12878	blood:	n/a	chr18:11851424-11851440 chr18:11851396-11851410 chr18:11851397-11851406
17	POLR2A	chr18:11848810-11859649	IMR90	lung:	n/a	n/a
18	POLR2A	chr18:11849634-11853427	Hela-S3	cervix:	n/a	n/a
19	BHLHE40	chr18:11849911-11852129	K562	blood:	n/a	chr18:11851424-11851440
20	CEBPB	chr18:11849837-11851540	Hela-S3	cervix:	n/a	chr18:11850849-11850866
21	POLR2A	chr18:11849309-11852175	K562	blood:	n/a	n/a
22	NRF1	chr18:11850606-11851823	SK-N-SH	brain:	n/a	n/a
23	MYC	chr18:11849593-11852187	K562	blood:	n/a	n/a
24	POLR2A	chr18:11849742-11860299	MCF10A-Er-Src	breast:	n/a	n/a
25	SMARCB1	chr18:11849896-11852825	K562	blood:	n/a	n/a
26	MXI1	chr18:11850042-11851568	K562	blood:	n/a	n/a
27	MXI1	chr18:11850048-11852280	GM12878	blood:	n/a	n/a
28	CHD1	chr18:11850220-11852206	GM12878	blood:	n/a	n/a
29	POLR2A	chr18:11849990-11851662	K562	blood:	n/a	n/a
30	RFX5	chr18:11849827-11852026	Hela-S3	cervix:	n/a	chr18:11850099-11850114
31	POLR2A	chr18:11850637-11852327	Hela-S3	cervix:	n/a	n/a
32	ARID3A	chr18:11850363-11851569	K562	blood:	n/a	n/a
33	MAX	chr18:11849717-11850688	K562	blood:	n/a	n/a
34	KAP1	chr18:11849834-11851780	HEK293	kidney:	n/a	n/a
35	IRF1	chr18:11850600-11851965	K562	blood:	n/a	chr18:11851400-11851409 chr18:11851311-11851325
36	EP300	chr18:11849656-11850813	ECC-1	luminal epithelium:	n/a	n/a
37	TCF7L2	chr18:11849804-11852206	Hela-S3	cervix:	n/a	chr18:11852149-11852156 chr18:11850678-11850692
38	BACH1	chr18:11850288-11850755	K562	blood:	n/a	n/a
39	JUND	chr18:11849798-11850699	K562	blood:	n/a	chr18:11850578-11850589
40	EP300	chr18:11849886-11851350	Hela-S3	cervix:	n/a	n/a
41	POLR2A	chr18:11850180-11853827	K562	blood:	n/a	n/a
42	BRCA1	chr18:11849877-11850664	Hela-S3	cervix:	n/a	n/a
43	EGR1	chr18:11850446-11850663	K562	blood:	n/a	n/a
44	MYC	chr18:11849933-11851624	K562	blood:	n/a	n/a
45	MXI1	chr18:11849517-11852485	SK-N-SH	brain:	n/a	n/a
46	MAX	chr18:11849713-11850763	ECC-1	luminal epithelium:	n/a	n/a
47	MYC	chr18:11849855-11851531	MCF10A-Er-Src	breast:	n/a	n/a
48	POLR2A	chr18:11850582-11852562	HUVEC	blood vessel:	n/a	n/a
49	POLR2A	chr18:11850646-11852296	Hela-S3	cervix:	n/a	n/a
50	POLR2A	chr18:11850400-11852146	SK-N-MC	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr18:11848894..11852838-chr18:11907232..11909901,3	MCF-7	breast:
2	chr18:11848574..11852252-chr18:11979272..11982648,7	K562	blood:
3	chr18:11848600..11852886-chr18:11853629..11859008,5	K562	blood:
4	chr18:11835310..11837541-chr18:11849042..11851046,2	K562	blood:
5	chr17:73267054..73267672-chr18:11850069..11850890,2	Hela-S3	cervix:
6	chr18:11848937..11853647-chr18:11979272..11982109,5	K562	blood:
7	chr1:40505347..40506112-chr18:11850514..11851481,2	Hela-S3	cervix:
8	chr18:11849809..11852493-chr18:11906595..11908569,3	K562	blood:
9	chr18:11840420..11843052-chr18:11849783..11851381,2	K562	blood:
10	chr18:11748809..11750992-chr18:11849434..11851351,2	MCF-7	breast:
11	chr18:11812501..11815229-chr18:11848364..11850708,2	K562	blood:
12	chr18:11848334..11851734-chr18:11906595..11909240,3	K562	blood:
13	chr18:11850609..11852706-chr8:91655783..91658479,2	MCF-7	breast:
14	chr12:120730794..120731301-chr18:11850135..11851057,2	Hela-S3	cervix:

Variant related genes	Relation type
CHMP1B	TF binding region
ENSG00000272703	Chromatin interaction
ENSG00000154889	Chromatin interaction
ENSG00000273141	Chromatin interaction
ENSG00000131236	Chromatin interaction
ENSG00000141401	Chromatin interaction
ENSG00000141404	Chromatin interaction
ENSG00000263843	Chromatin interaction
ENSG00000125457	Chromatin interaction
ENSG00000180694	Chromatin interaction
ENSG00000200795	Chromatin interaction
ENSG00000255112	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs1424914	1.00[YRI][hapmap]
rs4239300	1.00[YRI][hapmap]
rs7230614	1.00[YRI][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	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:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:11849600-11850800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr18:11849600-11850800	Flanking Active TSS	K562	blood
3	chr18:11849600-11851000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr18:11849600-11851000	Flanking Active TSS	NH-A	brain
5	chr18:11849600-11851200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
6	chr18:11849600-11851200	Flanking Active TSS	Hela-S3	cervix
7	chr18:11849800-11850800	Enhancers	H1 Cell Line	embryonic stem cell
8	chr18:11849800-11850800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr18:11849800-11850800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr18:11849800-11850800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
11	chr18:11849800-11850800	Flanking Active TSS	Primary hematopoietic stem cells	blood
12	chr18:11849800-11850800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
13	chr18:11849800-11850800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
14	chr18:11849800-11850800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr18:11849800-11850800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
16	chr18:11849800-11850800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr18:11849800-11850800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr18:11849800-11850800	Flanking Active TSS	Adipose Nuclei	Adipose
19	chr18:11849800-11850800	Flanking Active TSS	Liver	Liver
20	chr18:11849800-11850800	Flanking Active TSS	A549	lung
21	chr18:11849800-11850800	Flanking Active TSS	GM12878-XiMat	blood
22	chr18:11849800-11850800	Flanking Active TSS	HMEC	breast
23	chr18:11849800-11850800	Flanking Active TSS	HSMM	muscle
24	chr18:11849800-11851000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr18:11849800-11851000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
26	chr18:11849800-11851000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr18:11849800-11851000	Flanking Active TSS	Dnd41	blood
28	chr18:11849800-11851000	Flanking Active TSS	NHEK	skin
29	chr18:11849800-11852200	Active TSS	Rectal Smooth Muscle	rectum
30	chr18:11849800-11852400	Active TSS	Aorta	Aorta
31	chr18:11849800-11853000	Active TSS	Colon Smooth Muscle	Colon
32	chr18:11849800-11853000	Active TSS	NHDF-Ad	bronchial
33	chr18:11849800-11853200	Active TSS	Colonic Mucosa	Colon
34	chr18:11849800-11853200	Active TSS	Fetal Intestine Small	intestine
35	chr18:11849800-11853200	Active TSS	Pancreatic Islets	Pancreatic Islet
36	chr18:11849800-11853200	Active TSS	HSMMtube	muscle
37	chr18:11849800-11853400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr18:11849800-11854000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr18:11850000-11850800	Enhancers	H9 Cell Line	embryonic stem cell
40	chr18:11850000-11850800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr18:11850000-11850800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
42	chr18:11850000-11851000	Flanking Active TSS	Primary B cells from cord blood	blood
43	chr18:11850000-11851000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
44	chr18:11850000-11851000	Flanking Active TSS	HUVEC	blood vessel
45	chr18:11850000-11851600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr18:11850000-11852200	Active TSS	Esophagus	oesophagus
47	chr18:11850000-11852200	Active TSS	Gastric	stomach
48	chr18:11850000-11852400	Active TSS	Left Ventricle	heart
49	chr18:11850000-11852600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
50	chr18:11850000-11853000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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