Variant report

Variant	rs35015218
Chromosome Location	chr15:75092187-75092188
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	EBF1	chr15:75092136-75092799	GM12878	blood:	n/a	chr15:75092499-75092510
2	CTCF	chr15:75091980-75093073	A549	lung:	n/a	chr15:75092670-75092683 chr15:75092671-75092681 chr15:75092669-75092685 chr15:75092663-75092684 chr15:75092668-75092686 chr15:75092670-75092683 chr15:75092674-75092683
3	POLR2A	chr15:75090055-75093409	GM12878	blood:	n/a	n/a
4	POLR2A	chr15:75092060-75092846	GM12891	blood:	n/a	n/a
5	PAX5	chr15:75092187-75092943	GM12878	blood:	n/a	n/a
6	RELA	chr15:75092127-75092805	GM18951	blood:	n/a	n/a
7	RUNX3	chr15:75092173-75092880	GM12878	blood:	n/a	n/a
8	FOS	chr15:75092144-75092792	MCF10A-Er-Src	breast:	n/a	chr15:75092732-75092741
9	BCLAF1	chr15:75091993-75092918	GM12878	blood:	n/a	n/a
10	POLR2A	chr15:75090180-75093445	GM12878	blood:	n/a	n/a
11	NFIC	chr15:75092164-75092809	GM12878	blood:	n/a	n/a
12	CTCF	chr15:75092152-75093189	SK-N-SH	brain:	n/a	chr15:75093104-75093113 chr15:75093100-75093113 chr15:75092670-75092683 chr15:75092671-75092681 chr15:75092669-75092685 chr15:75092663-75092684 chr15:75092668-75092686 chr15:75092670-75092683 chr15:75092674-75092683
13	FOS	chr15:75092171-75092783	MCF10A-Er-Src	breast:	n/a	chr15:75092732-75092741
14	RAD21	chr15:75091818-75092963	ECC-1	luminal epithelium:	n/a	chr15:75092666-75092685 chr15:75092659-75092672 chr15:75092668-75092680 chr15:75092670-75092680 chr15:75092669-75092682 chr15:75092672-75092681
15	CTCF	chr15:75092040-75092190	GM12878	blood:	n/a	n/a
16	POLR2A	chr15:75092148-75092877	HUVEC	blood vessel:	n/a	n/a
17	POLR2A	chr15:75089967-75094280	GM12892	blood:	n/a	n/a
18	EBF1	chr15:75091944-75092795	GM12878	blood:	n/a	chr15:75092499-75092510
19	POLR2A	chr15:75091621-75093031	K562	blood:	n/a	n/a
20	POLR2A	chr15:75091371-75092853	GM12891	blood:	n/a	n/a
21	CTCF	chr15:75092180-75092330	WI-38	lung:	n/a	n/a
22	BCLAF1	chr15:75091805-75092856	GM12878	blood:	n/a	n/a
23	POLR2A	chr15:75090402-75092814	GM12891	blood:	n/a	n/a
24	POLR2A	chr15:75091207-75092908	GM12892	blood:	n/a	n/a
25	CTCF	chr15:75092120-75092270	GM12866	blood:	n/a	n/a
26	STAT5A	chr15:75091995-75092910	GM12878	blood:	n/a	n/a
27	MAZ	chr15:75092149-75093166	IMR90	lung:	n/a	chr15:75092223-75092232
28	MAX	chr15:75091833-75092854	GM12878	blood:	n/a	chr15:75092223-75092232
29	MYC	chr15:75091856-75092774	MCF10A-Er-Src	breast:	n/a	chr15:75092223-75092232
30	PML	chr15:75091646-75093022	GM12878	blood:	n/a	n/a
31	ZNF263	chr15:75091522-75092791	HEK293-T-REx	kidney:	n/a	n/a
32	RAD21	chr15:75091774-75092284	H1-hESC	embryonic stem cell:	n/a	n/a
33	POLR2A	chr15:75091411-75093098	GM18505	blood:	n/a	n/a
34	MTA3	chr15:75092158-75092844	GM12878	blood:	n/a	n/a
35	POLR2A	chr15:75089866-75092958	GM12892	blood:	n/a	n/a
36	MAX	chr15:75091779-75092869	NB4	blood:	n/a	chr15:75092223-75092232
37	RUNX3	chr15:75091822-75093066	GM12878	blood:	n/a	n/a
38	NRF1	chr15:75092143-75092840	GM12878	blood:	n/a	n/a
39	MAX	chr15:75091897-75092214	H1-hESC	embryonic stem cell:	n/a	n/a
40	MTA3	chr15:75089924-75092899	GM12878	blood:	n/a	n/a
41	POLR2A	chr15:75092161-75092894	K562	blood:	n/a	n/a
42	POLR2A	chr15:75091639-75092952	GM18951	blood:	n/a	n/a
43	POLR2A	chr15:75091318-75092989	HL-60	blood:	n/a	n/a
44	EBF1	chr15:75092174-75093055	GM12878	blood:	n/a	chr15:75092499-75092510
45	CTCF	chr15:75092180-75092330	AG10803	skin:	n/a	n/a
46	FOXM1	chr15:75092168-75092967	GM12878	blood:	n/a	n/a
47	POLR2A	chr15:75092013-75093010	GM12878	blood:	n/a	n/a
48	MYC	chr15:75091974-75092784	MCF10A-Er-Src	breast:	n/a	chr15:75092223-75092232
49	RAD21	chr15:75091901-75093053	MCF-7	breast:	n/a	chr15:75092666-75092685 chr15:75092659-75092672 chr15:75092668-75092680 chr15:75092670-75092680 chr15:75092669-75092682 chr15:75092672-75092681
50	POLR2A	chr15:75089848-75095044	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:75091765..75094357-chr15:75191183..75194158,2	MCF-7	breast:
2	chr15:75091213..75094124-chr15:75128179..75130318,2	K562	blood:
3	chr15:75090773..75092693-chr15:75133525..75135797,3	K562	blood:
4	chr15:75091193..75092930-chr15:75133955..75135797,2	K562	blood:
5	chr15:75090885..75095958-chr15:75228068..75231576,5	K562	blood:
6	chr15:75074533..75077222-chr15:75090764..75094129,5	MCF-7	breast:
7	chr15:75072261..75077453-chr15:75091040..75094267,5	K562	blood:
8	chr15:75090919..75095080-chr15:75105772..75108722,6	MCF-7	breast:
9	chr15:74927215..74928529-chr15:75092139..75093409,7	K562	blood:
10	chr15:75080194..75080835-chr15:75091870..75092731,2	MCF-7	breast:
11	chr15:75079725..75083728-chr15:75089989..75095483,10	MCF-7	breast:
12	chr15:75073819..75074794-chr15:75091819..75093280,12	MCF-7	breast:
13	chr15:75090900..75093717-chr15:75134239..75137508,3	MCF-7	breast:

Variant related genes	Relation type
CSK	TF binding region
ENSG00000140474	Chromatin interaction
ENSG00000179151	Chromatin interaction
ENSG00000178741	Chromatin interaction
ENSG00000260824	Chromatin interaction
ENSG00000264386	Chromatin interaction
ENSG00000178761	Chromatin interaction
ENSG00000261606	Chromatin interaction
ENSG00000103653	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs16953877	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16953882	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1801014	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34009660	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34111182	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35058771	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35416465	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35625871	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35878711	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35896486	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4632113	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs62621375	1.00[AMR][1000 genomes]
rs7168586	0.88[AFR][1000 genomes]
rs8040566	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv904380	chr15:74869438-75142761	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
2	nsv833055	chr15:74988344-75166288	Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:75079400-75093800	Weak transcription	Aorta	Aorta
2	chr15:75082200-75092200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr15:75082400-75098400	Weak transcription	Fetal Kidney	kidney
4	chr15:75082600-75093200	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr15:75083000-75093000	Weak transcription	HUVEC	blood vessel
6	chr15:75083200-75092400	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
7	chr15:75083200-75093600	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr15:75084400-75093200	Genic enhancers	Primary B cells from cord blood	blood
9	chr15:75084400-75094600	Weak transcription	HSMMtube	muscle
10	chr15:75085800-75093200	Weak transcription	Ovary	ovary
11	chr15:75086000-75092200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr15:75086000-75092200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr15:75086000-75092200	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr15:75086000-75092800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
15	chr15:75086000-75093600	Genic enhancers	Primary B cells from peripheral blood	blood
16	chr15:75086000-75093800	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
17	chr15:75086000-75094200	Genic enhancers	Primary T cells fromperipheralblood	blood
18	chr15:75086000-75107400	Weak transcription	Fetal Brain Male	brain
19	chr15:75086200-75093200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr15:75086200-75093200	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr15:75086200-75093600	Weak transcription	HSMM	muscle
22	chr15:75086200-75093800	Weak transcription	Small Intestine	intestine
23	chr15:75086200-75098000	Strong transcription	Fetal Stomach	stomach
24	chr15:75086600-75092200	Genic enhancers	GM12878-XiMat	blood
25	chr15:75087000-75092200	Weak transcription	Fetal Heart	heart
26	chr15:75087000-75093400	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr15:75087200-75100200	Weak transcription	Right Atrium	heart
28	chr15:75087400-75093000	Genic enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr15:75088600-75093600	Genic enhancers	Primary monocytes fromperipheralblood	blood
30	chr15:75088800-75093800	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
31	chr15:75089000-75092600	Genic enhancers	Primary T cells from cord blood	blood
32	chr15:75089200-75093200	Genic enhancers	Primary T helper cells PMA-I stimulated	--
33	chr15:75089400-75097600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr15:75089800-75093600	Genic enhancers	Monocytes-CD14+_RO01746	blood
35	chr15:75089800-75097200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr15:75090000-75092200	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
37	chr15:75090000-75092200	Strong transcription	NHLF	lung
38	chr15:75090000-75092800	Genic enhancers	Spleen	Spleen
39	chr15:75090000-75093000	Genic enhancers	Esophagus	oesophagus
40	chr15:75090000-75093200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr15:75090000-75093200	Genic enhancers	Primary T helper cells fromperipheralblood	blood
42	chr15:75090000-75097200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr15:75090000-75097600	Strong transcription	Thymus	Thymus
44	chr15:75090000-75097800	Strong transcription	Brain Germinal Matrix	brain
45	chr15:75090200-75092200	Strong transcription	Stomach Smooth Muscle	stomach
46	chr15:75090200-75092400	Genic enhancers	Colonic Mucosa	Colon
47	chr15:75090200-75092600	Genic enhancers	Gastric	stomach
48	chr15:75090200-75092800	Genic enhancers	Pancreas	Pancrea
49	chr15:75090200-75093000	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
50	chr15:75090200-75093200	Genic enhancers	Fetal Thymus	thymus

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