Variant report

Variant	rs28414758
Chromosome Location	chr15:76031663-76031664
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	YY1	chr15:76031121-76031761	H1-hESC	embryonic stem cell:	n/a	n/a
2	E2F6	chr15:76030379-76031781	K562	blood:	n/a	chr15:76031077-76031086 chr15:76031195-76031204
3	YY1	chr15:76031292-76031767	K562	blood:	n/a	n/a
4	SIN3AK20	chr15:76030689-76031748	MCF-7	breast:	n/a	n/a
5	TCF12	chr15:76031032-76031742	A549	lung:	n/a	n/a
6	YY1	chr15:76030960-76031765	H1-hESC	embryonic stem cell:	n/a	chr15:76031081-76031095 chr15:76031077-76031086
7	YY1	chr15:76031432-76031706	GM12878	blood:	n/a	n/a
8	TBL1XR1	chr15:76031351-76031798	K562	blood:	n/a	n/a
9	YY1	chr15:76031420-76031747	GM12892	blood:	n/a	n/a
10	MAX	chr15:76030533-76031800	MCF-7	breast:	n/a	chr15:76031141-76031151 chr15:76030979-76030989
11	E2F6	chr15:76031025-76031738	A549	lung:	n/a	chr15:76031077-76031086 chr15:76031195-76031204
12	MAX	chr15:76030441-76031902	A549	lung:	n/a	chr15:76031141-76031151 chr15:76030979-76030989
13	SP1	chr15:76030772-76031727	A549	lung:	n/a	chr15:76031156-76031167 chr15:76031109-76031121 chr15:76030996-76031006 chr15:76031110-76031119 chr15:76031141-76031150 chr15:76031140-76031151 chr15:76030995-76031007 chr15:76030979-76030989 chr15:76031109-76031121 chr15:76031111-76031120 chr15:76030978-76030990 chr15:76030995-76031007 chr15:76030980-76030989 chr15:76030997-76031006 chr15:76030996-76031005 chr15:76031140-76031152 chr15:76031110-76031120 chr15:76030979-76030988 chr15:76031142-76031151 chr15:76030979-76030989 chr15:76031141-76031151 chr15:76030978-76030990 chr15:76031110-76031119 chr15:76030996-76031005 chr15:76031140-76031152
14	RCOR1	chr15:76031201-76031697	K562	blood:	n/a	n/a
15	MYC	chr15:76030775-76031937	K562	blood:	n/a	chr15:76031141-76031151 chr15:76030979-76030989
16	MAX	chr15:76030535-76031774	ECC-1	luminal epithelium:	n/a	chr15:76031141-76031151 chr15:76030979-76030989
17	USF1	chr15:76031075-76031702	A549	lung:	n/a	chr15:76031078-76031094
18	MAX	chr15:76030455-76031847	A549	lung:	n/a	chr15:76031141-76031151 chr15:76030979-76030989
19	USF1	chr15:76031099-76031676	A549	lung:	n/a	n/a
20	MAX	chr15:76030859-76031798	H1-hESC	embryonic stem cell:	n/a	chr15:76031141-76031151 chr15:76030979-76030989
21	MAX	chr15:76030746-76031706	HCT-116	colon:	n/a	chr15:76031141-76031151 chr15:76030979-76030989
22	MYC	chr15:76030787-76031786	K562	blood:	n/a	chr15:76031141-76031151 chr15:76030979-76030989
23	POLR2A	chr15:76030736-76031695	K562	blood:	n/a	n/a
24	POLR2A	chr15:76030874-76031668	MCF-7	breast:	n/a	n/a
25	MAX	chr15:76030481-76031797	ECC-1	luminal epithelium:	n/a	chr15:76031141-76031151 chr15:76030979-76030989
26	MAX	chr15:76030543-76031778	HCT-116	colon:	n/a	chr15:76031141-76031151 chr15:76030979-76030989
27	MYC	chr15:76030823-76031691	K562	blood:	n/a	chr15:76031141-76031151 chr15:76030979-76030989
28	MYC	chr15:76030672-76031803	A549	lung:	n/a	chr15:76031141-76031151 chr15:76030979-76030989
29	MAX	chr15:76030876-76031713	H1-hESC	embryonic stem cell:	n/a	chr15:76031141-76031151 chr15:76030979-76030989
30	YY1	chr15:76030916-76031735	K562	blood:	n/a	chr15:76031081-76031095 chr15:76031077-76031086
31	MAX	chr15:76030876-76031680	SK-N-SH	brain:	n/a	chr15:76031141-76031151 chr15:76030979-76030989
32	YY1	chr15:76031109-76031761	ECC-1	luminal epithelium:	n/a	n/a
33	MAX	chr15:76030759-76031733	MCF-7	breast:	n/a	chr15:76031141-76031151 chr15:76030979-76030989
34	JUN	chr15:76030433-76031767	K562	blood:	n/a	chr15:76031112-76031121
35	MAX	chr15:76030718-76031863	K562	blood:	n/a	chr15:76031141-76031151 chr15:76030979-76030989
36	MAX	chr15:76030969-76031742	K562	blood:	n/a	chr15:76031141-76031151 chr15:76030979-76030989
37	E2F6	chr15:76030597-76031800	A549	lung:	n/a	chr15:76031077-76031086 chr15:76031195-76031204
38	POLR2A	chr15:76030574-76031793	K562	blood:	n/a	n/a
39	MAX	chr15:76030808-76031727	K562	blood:	n/a	chr15:76031141-76031151 chr15:76030979-76030989
40	CBX3	chr15:76030804-76031757	K562	blood:	n/a	n/a
41	POLR2A	chr15:76030725-76031707	K562	blood:	n/a	n/a
42	POLR2A	chr15:76030459-76031693	H1-hESC	embryonic stem cell:	n/a	n/a
43	E2F6	chr15:76030896-76031706	K562	blood:	n/a	chr15:76031077-76031086 chr15:76031195-76031204
44	E2F6	chr15:76030421-76031886	H1-hESC	embryonic stem cell:	n/a	chr15:76031077-76031086 chr15:76031195-76031204
45	YY1	chr15:76031080-76031704	A549	lung:	n/a	chr15:76031081-76031095
46	USF1	chr15:76031140-76031672	K562	blood:	n/a	n/a
47	USF1	chr15:76031114-76031682	A549	lung:	n/a	n/a
48	E2F6	chr15:76030746-76031797	H1-hESC	embryonic stem cell:	n/a	chr15:76031077-76031086 chr15:76031195-76031204
49	MXI1	chr15:76030368-76031851	SK-N-SH	brain:	n/a	chr15:76030486-76030495
50	YY1	chr15:76030808-76031759	K562	blood:	n/a	chr15:76031081-76031095 chr15:76031077-76031086

No.	Distal block	Cell Line	Cell type
1	chr15:76030966..76033044-chr15:76037778..76039955,4	K562	blood:
2	chr15:76030875..76032709-chr15:76036980..76039783,2	MCF-7	breast:
3	chr15:76024107..76026384-chr15:76031039..76032917,2	MCF-7	breast:

Variant related genes	Relation type
DNM1P35	TF binding region
ENSG00000260815	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs12102136	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16967294	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16967508	1.00[EUR][1000 genomes]
rs28372561	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28395383	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28396803	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28398053	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28412110	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28413637	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28420558	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28432282	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28447345	1.00[EUR][1000 genomes]
rs28450740	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28461701	1.00[EUR][1000 genomes]
rs28504376	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28505697	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28510991	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28519586	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28521156	1.00[EUR][1000 genomes]
rs28530778	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28533248	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28550881	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28567605	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28628290	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28628820	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28645531	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28664638	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28677951	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28695912	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28711283	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28727341	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3991368	1.00[AMR][1000 genomes]
rs56686272	1.00[AMR][1000 genomes]
rs57267837	1.00[AMR][1000 genomes]
rs58167659	1.00[AMR][1000 genomes]
rs58689645	1.00[AMR][1000 genomes]
rs58840197	1.00[EUR][1000 genomes]
rs59944002	1.00[AMR][1000 genomes]
rs60159975	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60465775	1.00[AMR][1000 genomes]
rs60544586	1.00[AMR][1000 genomes]
rs73439281	1.00[AMR][1000 genomes]
rs73439290	1.00[AMR][1000 genomes]
rs73439302	1.00[AMR][1000 genomes]
rs73442996	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73444997	1.00[AMR][1000 genomes]
rs74026527	1.00[EUR][1000 genomes]
rs8026666	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs8033538	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8041384	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3445070	chr15:75623136-76045948	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
2	nsv531903	chr15:75889302-76342128	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
3	nsv527186	chr15:75924443-76107730	Active TSS Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	69 gene(s)	inside rSNPs	diseases
4	nsv904392	chr15:75930757-76039262	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
5	nsv904394	chr15:75948671-76039262	Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	nsv904396	chr15:75961518-76071105	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:76029000-76032000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
2	chr15:76030200-76031800	Active TSS	Breast Myoepithelial Primary Cells	Breast
3	chr15:76030200-76031800	Flanking Active TSS	Adipose Nuclei	Adipose
4	chr15:76030200-76031800	Active TSS	Brain Angular Gyrus	brain
5	chr15:76030200-76031800	Flanking Active TSS	Colonic Mucosa	Colon
6	chr15:76030200-76031800	Active TSS	Duodenum Smooth Muscle	Duodenum
7	chr15:76030200-76031800	Active TSS	Fetal Kidney	kidney
8	chr15:76030200-76031800	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr15:76030200-76031800	Active TSS	Rectal Mucosa Donor 29	rectum
10	chr15:76030200-76031800	Active TSS	NH-A	brain
11	chr15:76030200-76032000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr15:76030200-76032000	Active TSS	Fetal Brain Female	brain
13	chr15:76030400-76031800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
14	chr15:76030400-76031800	Active TSS	Primary T cells from cord blood	blood
15	chr15:76030400-76031800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
16	chr15:76030400-76031800	Active TSS	Brain Hippocampus Middle	brain
17	chr15:76030400-76031800	Active TSS	Colon Smooth Muscle	Colon
18	chr15:76030400-76031800	Active TSS	Rectal Smooth Muscle	rectum
19	chr15:76030400-76031800	Active TSS	Right Atrium	heart
20	chr15:76030400-76031800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
21	chr15:76030600-76032000	Active TSS	Brain Substantia Nigra	brain
22	chr15:76030800-76031800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr15:76030800-76031800	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr15:76030800-76032000	Active TSS	Brain Anterior Caudate	brain
25	chr15:76030800-76032000	Active TSS	Brain Inferior Temporal Lobe	brain
26	chr15:76031000-76031800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
27	chr15:76031000-76031800	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
28	chr15:76031200-76031800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
29	chr15:76031200-76031800	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
30	chr15:76031200-76031800	Flanking Active TSS	Primary hematopoietic stem cells	blood
31	chr15:76031200-76031800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
32	chr15:76031200-76031800	Flanking Bivalent TSS/Enh	Primary Natural Killer cells fromperipheralblood	blood
33	chr15:76031200-76031800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
34	chr15:76031200-76031800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr15:76031200-76031800	Flanking Active TSS	Duodenum Mucosa	Duodenum
36	chr15:76031200-76031800	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
37	chr15:76031200-76031800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
38	chr15:76031200-76031800	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
39	chr15:76031200-76031800	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
40	chr15:76031200-76031800	Flanking Active TSS	Pancreas	Pancrea
41	chr15:76031200-76031800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
42	chr15:76031200-76031800	Flanking Active TSS	Stomach Smooth Muscle	stomach
43	chr15:76031200-76031800	Flanking Active TSS	GM12878-XiMat	blood
44	chr15:76031200-76032200	Enhancers	Fetal Heart	heart
45	chr15:76031400-76031800	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
46	chr15:76031400-76031800	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
47	chr15:76031400-76031800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
48	chr15:76031400-76031800	Flanking Active TSS	Primary B cells from cord blood	blood
49	chr15:76031400-76031800	Flanking Active TSS	Primary B cells from peripheral blood	blood
50	chr15:76031400-76031800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood

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