Variant report

Variant	rs28677951
Chromosome Location	chr15:76031393-76031394
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	MAZ	chr15:76030529-76031451	GM12878	blood:	n/a	chr15:76031141-76031151 chr15:76030979-76030989
3	POLR2A	chr15:76030746-76031450	ProgFib	skin:	n/a	n/a
4	MYC	chr15:76031027-76031651	H1-hESC	embryonic stem cell:	n/a	chr15:76031141-76031151
5	E2F6	chr15:76030379-76031781	K562	blood:	n/a	chr15:76031077-76031086 chr15:76031195-76031204
6	YY1	chr15:76031292-76031767	K562	blood:	n/a	n/a
7	SIN3AK20	chr15:76030689-76031748	MCF-7	breast:	n/a	n/a
8	MXI1	chr15:76031167-76031584	H1-hESC	embryonic stem cell:	n/a	n/a
9	MAZ	chr15:76030718-76031432	Hela-S3	cervix:	n/a	chr15:76031141-76031151 chr15:76030979-76030989
10	USF1	chr15:76031158-76031614	A549	lung:	n/a	n/a
11	POLR2A	chr15:76030442-76031491	ECC-1	luminal epithelium:	n/a	n/a
12	TCF12	chr15:76031032-76031742	A549	lung:	n/a	n/a
13	YY1	chr15:76030960-76031765	H1-hESC	embryonic stem cell:	n/a	chr15:76031081-76031095 chr15:76031077-76031086
14	USF1	chr15:76031102-76031536	GM12878	blood:	n/a	n/a
15	CTCF	chr15:76031380-76031530	AG04449	skin:	n/a	n/a
16	REST	chr15:76030786-76031611	H1-neurons	neurons:	n/a	chr15:76031076-76031089 chr15:76031566-76031579 chr15:76031111-76031124
17	POLR2A	chr15:76031055-76031500	H1-hESC	embryonic stem cell:	n/a	n/a
18	MYC	chr15:76031044-76031632	K562	blood:	n/a	chr15:76031141-76031151
19	TAF1	chr15:76031189-76031654	H1-hESC	embryonic stem cell:	n/a	n/a
20	TBL1XR1	chr15:76031351-76031798	K562	blood:	n/a	n/a
21	POLR2A	chr15:76030878-76031512	H1-neurons	neurons:	n/a	n/a
22	USF1	chr15:76031236-76031525	A549	lung:	n/a	n/a
23	POLR2A	chr15:76031270-76031618	GM12878	blood:	n/a	n/a
24	YY1	chr15:76030599-76031393	HepG2	liver:	n/a	chr15:76031081-76031095 chr15:76031077-76031086
25	MAX	chr15:76030533-76031800	MCF-7	breast:	n/a	chr15:76031141-76031151 chr15:76030979-76030989
26	POLR2A	chr15:76030761-76031533	GM12878	blood:	n/a	n/a
27	E2F6	chr15:76031025-76031738	A549	lung:	n/a	chr15:76031077-76031086 chr15:76031195-76031204
28	POLR2A	chr15:76031123-76031500	A549	lung:	n/a	n/a
29	POLR2A	chr15:76030618-76031520	SK-N-MC	brain:	n/a	n/a
30	MAZ	chr15:76030342-76031635	IMR90	lung:	n/a	chr15:76031141-76031151 chr15:76030979-76030989
31	POLR2A	chr15:76031011-76031444	K562	blood:	n/a	n/a
32	MYC	chr15:76031252-76031500	HUVEC	blood vessel:	n/a	n/a
33	STAT1	chr15:76030760-76031408	GM12878	blood:	n/a	n/a
34	SIN3A	chr15:76030346-76031609	H1-hESC	embryonic stem cell:	n/a	chr15:76031113-76031124 chr15:76031079-76031092
35	UBTF	chr15:76031364-76031564	K562	blood:	n/a	n/a
36	MYC	chr15:76031299-76031510	MCF-7	breast:	n/a	n/a
37	MAX	chr15:76030441-76031902	A549	lung:	n/a	chr15:76031141-76031151 chr15:76030979-76030989
38	BCL3	chr15:76031099-76031484	A549	lung:	n/a	chr15:76031111-76031124
39	ZBTB7A	chr15:76030468-76031520	ECC-1	luminal epithelium:	n/a	chr15:76031194-76031203
40	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
41	USF1	chr15:76031115-76031650	ECC-1	luminal epithelium:	n/a	n/a
42	PAX5	chr15:76031207-76031563	GM12878	blood:	n/a	n/a
43	RCOR1	chr15:76031201-76031697	K562	blood:	n/a	n/a
44	SP4	chr15:76031054-76031556	H1-hESC	embryonic stem cell:	n/a	chr15:76031156-76031167 chr15:76031138-76031154 chr15:76031140-76031151
45	FOXP2	chr15:76030740-76031508	PFSK-1	brain:	n/a	n/a
46	MYC	chr15:76031027-76031618	K562	blood:	n/a	chr15:76031141-76031151
47	POLR2A	chr15:76030704-76031653	Raji	blood:	n/a	n/a
48	MYC	chr15:76030775-76031937	K562	blood:	n/a	chr15:76031141-76031151 chr15:76030979-76030989
49	ZBTB7A	chr15:76030441-76031519	K562	blood:	n/a	chr15:76031194-76031203
50	ATF2	chr15:76031169-76031536	GM12878	blood:	n/a	n/a

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]
rs28414758	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]
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:127 , 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	chr15:76029600-76031400	Active TSS	iPS-15b Cell Line	embryonic stem cell
3	chr15:76029600-76031400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr15:76029800-76031600	Active TSS	H9 Cell Line	embryonic stem cell
5	chr15:76029800-76031600	Active TSS	HSMM	muscle
6	chr15:76030000-76031600	Active TSS	NHEK	skin
7	chr15:76030200-76031400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr15:76030200-76031400	Active TSS	Brain Cingulate Gyrus	brain
9	chr15:76030200-76031400	Active TSS	Fetal Intestine Large	intestine
10	chr15:76030200-76031400	Active TSS	Fetal Intestine Small	intestine
11	chr15:76030200-76031400	Active TSS	Osteobl	bone
12	chr15:76030200-76031600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr15:76030200-76031600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr15:76030200-76031600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
15	chr15:76030200-76031600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr15:76030200-76031600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr15:76030200-76031800	Active TSS	Breast Myoepithelial Primary Cells	Breast
18	chr15:76030200-76031800	Flanking Active TSS	Adipose Nuclei	Adipose
19	chr15:76030200-76031800	Active TSS	Brain Angular Gyrus	brain
20	chr15:76030200-76031800	Flanking Active TSS	Colonic Mucosa	Colon
21	chr15:76030200-76031800	Active TSS	Duodenum Smooth Muscle	Duodenum
22	chr15:76030200-76031800	Active TSS	Fetal Kidney	kidney
23	chr15:76030200-76031800	Active TSS	Pancreatic Islets	Pancreatic Islet
24	chr15:76030200-76031800	Active TSS	Rectal Mucosa Donor 29	rectum
25	chr15:76030200-76031800	Active TSS	NH-A	brain
26	chr15:76030200-76032000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr15:76030200-76032000	Active TSS	Fetal Brain Female	brain
28	chr15:76030400-76031400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
29	chr15:76030400-76031400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr15:76030400-76031400	Active TSS	iPS-18 Cell Line	embryonic stem cell
31	chr15:76030400-76031400	Active TSS	Stomach Mucosa	stomach
32	chr15:76030400-76031400	Active TSS	NHDF-Ad	bronchial
33	chr15:76030400-76031600	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr15:76030400-76031600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr15:76030400-76031600	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr15:76030400-76031600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr15:76030400-76031600	Active TSS	Primary T killer memory cells from peripheral blood	blood
38	chr15:76030400-76031600	Active TSS	Aorta	Aorta
39	chr15:76030400-76031600	Active TSS	Gastric	stomach
40	chr15:76030400-76031600	Active TSS	Lung	lung
41	chr15:76030400-76031600	Flanking Active TSS	Right Ventricle	heart
42	chr15:76030400-76031600	Active TSS	Sigmoid Colon	Sigmoid Colon
43	chr15:76030400-76031800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
44	chr15:76030400-76031800	Active TSS	Primary T cells from cord blood	blood
45	chr15:76030400-76031800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
46	chr15:76030400-76031800	Active TSS	Brain Hippocampus Middle	brain
47	chr15:76030400-76031800	Active TSS	Colon Smooth Muscle	Colon
48	chr15:76030400-76031800	Active TSS	Rectal Smooth Muscle	rectum
49	chr15:76030400-76031800	Active TSS	Right Atrium	heart
50	chr15:76030400-76031800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood

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