Variant report

Variant	rs12904654
Chromosome Location	chr15:76030993-76030994
allele	A/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	MAZ	chr15:76030529-76031451	GM12878	blood:	n/a	chr15:76031141-76031151 chr15:76030979-76030989
2	POLR2A	chr15:76030746-76031450	ProgFib	skin:	n/a	n/a
3	POLR2A	chr15:76030637-76031122	GM12878	blood:	n/a	n/a
4	E2F6	chr15:76030379-76031781	K562	blood:	n/a	chr15:76031077-76031086 chr15:76031195-76031204
5	RCOR1	chr15:76030938-76031111	Hela-S3	cervix:	n/a	n/a
6	SIN3AK20	chr15:76030689-76031748	MCF-7	breast:	n/a	n/a
7	POLR2A	chr15:76030668-76031343	HCT-116	colon:	n/a	n/a
8	MAZ	chr15:76030718-76031432	Hela-S3	cervix:	n/a	chr15:76031141-76031151 chr15:76030979-76030989
9	POLR2A	chr15:76030442-76031491	ECC-1	luminal epithelium:	n/a	n/a
10	FOXP2	chr15:76030879-76031199	SK-N-MC	brain:	n/a	n/a
11	ELF1	chr15:76030827-76031321	K562	blood:	n/a	chr15:76030996-76031008
12	YY1	chr15:76030960-76031765	H1-hESC	embryonic stem cell:	n/a	chr15:76031081-76031095 chr15:76031077-76031086
13	REST	chr15:76030786-76031611	H1-neurons	neurons:	n/a	chr15:76031076-76031089 chr15:76031566-76031579 chr15:76031111-76031124
14	MAX	chr15:76030792-76031350	NB4	blood:	n/a	chr15:76031141-76031151 chr15:76030979-76030989
15	ZNF143	chr15:76030929-76031373	K562	blood:	n/a	n/a
16	POLR2A	chr15:76030878-76031512	H1-neurons	neurons:	n/a	n/a
17	POLR2A	chr15:76030777-76031095	MCF-7	breast:	n/a	n/a
18	YY1	chr15:76030599-76031393	HepG2	liver:	n/a	chr15:76031081-76031095 chr15:76031077-76031086
19	MAX	chr15:76030533-76031800	MCF-7	breast:	n/a	chr15:76031141-76031151 chr15:76030979-76030989
20	POLR2A	chr15:76030761-76031533	GM12878	blood:	n/a	n/a
21	MAX	chr15:76030908-76031297	Hela-S3	cervix:	n/a	chr15:76031141-76031151 chr15:76030979-76030989
22	POLR2A	chr15:76030618-76031520	SK-N-MC	brain:	n/a	n/a
23	MAZ	chr15:76030342-76031635	IMR90	lung:	n/a	chr15:76031141-76031151 chr15:76030979-76030989
24	HEY1	chr15:76030704-76031107	HepG2	liver:	n/a	chr15:76031079-76031094
25	MYC	chr15:76030877-76031217	NB4	blood:	n/a	chr15:76031141-76031151 chr15:76030979-76030989
26	STAT1	chr15:76030760-76031408	GM12878	blood:	n/a	n/a
27	POLR2A	chr15:76030811-76031038	HepG2	liver:	n/a	n/a
28	SIN3A	chr15:76030346-76031609	H1-hESC	embryonic stem cell:	n/a	chr15:76031113-76031124 chr15:76031079-76031092
29	POLR2A	chr15:76030617-76031388	HCT-116	colon:	n/a	n/a
30	MAX	chr15:76030441-76031902	A549	lung:	n/a	chr15:76031141-76031151 chr15:76030979-76030989
31	ZBTB7A	chr15:76030468-76031520	ECC-1	luminal epithelium:	n/a	chr15:76031194-76031203
32	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
33	FOXP2	chr15:76030740-76031508	PFSK-1	brain:	n/a	n/a
34	POLR2A	chr15:76030704-76031653	Raji	blood:	n/a	n/a
35	MYC	chr15:76030775-76031937	K562	blood:	n/a	chr15:76031141-76031151 chr15:76030979-76030989
36	ZBTB7A	chr15:76030441-76031519	K562	blood:	n/a	chr15:76031194-76031203
37	MAX	chr15:76030535-76031774	ECC-1	luminal epithelium:	n/a	chr15:76031141-76031151 chr15:76030979-76030989
38	POLR2A	chr15:76030705-76031579	GM19099	blood:	n/a	n/a
39	ZNF143	chr15:76030900-76031386	GM12878	blood:	n/a	n/a
40	E2F1	chr15:76030902-76031350	Hela-S3	cervix:	n/a	chr15:76031077-76031086 chr15:76031195-76031204
41	POLR2A	chr15:76030738-76031004	U87	brain:	n/a	n/a
42	POLR2A	chr15:76030798-76030997	HepG2	liver:	n/a	n/a
43	ELF1	chr15:76030207-76031604	GM12878	blood:	n/a	chr15:76030528-76030539 chr15:76030996-76031008 chr15:76030529-76030538
44	SP1	chr15:76030800-76031559	H1-hESC	embryonic stem cell:	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
45	PAX5	chr15:76030789-76031217	GM12892	blood:	n/a	n/a
46	POLR2A	chr15:76030813-76031013	Hela-S3	cervix:	n/a	n/a
47	CREB1	chr15:76030933-76031649	K562	blood:	n/a	n/a
48	MAZ	chr15:76030910-76031249	HepG2	liver:	n/a	chr15:76031141-76031151 chr15:76030979-76030989
49	USF1	chr15:76030946-76031571	K562	blood:	n/a	chr15:76031078-76031094
50	SP4	chr15:76030912-76031210	H1-hESC	embryonic stem cell:	n/a	chr15:76031156-76031167 chr15:76031138-76031154 chr15:76030976-76030992 chr15:76030993-76031009 chr15:76031140-76031151

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

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

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10163112	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10519109	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11852712	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11854305	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11858818	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12898509	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12899163	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12899303	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12900007	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12900167	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12903661	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12905062	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12905730	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13329104	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1838939	0.81[ASN][1000 genomes]
rs1996302	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1996303	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2002668	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2004920	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2009508	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2017312	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2028948	0.81[ASN][1000 genomes]
rs2290484	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2405718	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2405719	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2405882	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs28404806	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs28541422	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs28615348	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28651447	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs28657001	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs28688252	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs28695212	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs28695716	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs28744558	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs28833005	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs28837134	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34402412	0.91[EUR][1000 genomes]
rs34469290	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs34571038	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34605750	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34611707	0.89[EUR][1000 genomes]
rs34941412	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs35019194	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs35135316	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs35136767	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35147271	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs35745834	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs35842909	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs36057011	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4503758	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs55744943	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs57905971	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs60214227	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs67908345	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs71403504	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7163633	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7165531	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7181595	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs74026532	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs8026234	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs8027311	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs8028002	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs8037672	0.83[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	chr15:76029400-76031200	Active TSS	HUES6 Cell Line	embryonic stem cell
3	chr15:76029600-76031200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr15:76029600-76031400	Active TSS	iPS-15b Cell Line	embryonic stem cell
5	chr15:76029600-76031400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr15:76029800-76031200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr15:76029800-76031200	Active TSS	GM12878-XiMat	blood
8	chr15:76029800-76031600	Active TSS	H9 Cell Line	embryonic stem cell
9	chr15:76029800-76031600	Active TSS	HSMM	muscle
10	chr15:76030000-76031600	Active TSS	NHEK	skin
11	chr15:76030200-76031000	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
12	chr15:76030200-76031200	Active TSS	HUES48 Cell Line	embryonic stem cell
13	chr15:76030200-76031200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr15:76030200-76031200	Active TSS	HepG2	liver
15	chr15:76030200-76031400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr15:76030200-76031400	Active TSS	Brain Cingulate Gyrus	brain
17	chr15:76030200-76031400	Active TSS	Fetal Intestine Large	intestine
18	chr15:76030200-76031400	Active TSS	Fetal Intestine Small	intestine
19	chr15:76030200-76031400	Active TSS	Osteobl	bone
20	chr15:76030200-76031600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr15:76030200-76031600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr15:76030200-76031600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
23	chr15:76030200-76031600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr15:76030200-76031600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr15:76030200-76031800	Active TSS	Breast Myoepithelial Primary Cells	Breast
26	chr15:76030200-76031800	Flanking Active TSS	Adipose Nuclei	Adipose
27	chr15:76030200-76031800	Active TSS	Brain Angular Gyrus	brain
28	chr15:76030200-76031800	Flanking Active TSS	Colonic Mucosa	Colon
29	chr15:76030200-76031800	Active TSS	Duodenum Smooth Muscle	Duodenum
30	chr15:76030200-76031800	Active TSS	Fetal Kidney	kidney
31	chr15:76030200-76031800	Active TSS	Pancreatic Islets	Pancreatic Islet
32	chr15:76030200-76031800	Active TSS	Rectal Mucosa Donor 29	rectum
33	chr15:76030200-76031800	Active TSS	NH-A	brain
34	chr15:76030200-76032000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr15:76030200-76032000	Active TSS	Fetal Brain Female	brain
36	chr15:76030400-76031000	Flanking Active TSS	Primary B cells from cord blood	blood
37	chr15:76030400-76031000	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
38	chr15:76030400-76031000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
39	chr15:76030400-76031000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
40	chr15:76030400-76031000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
41	chr15:76030400-76031000	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
42	chr15:76030400-76031000	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
43	chr15:76030400-76031000	Flanking Active TSS	Placenta	Placenta
44	chr15:76030400-76031000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
45	chr15:76030400-76031200	Active TSS	H1 Cell Line	embryonic stem cell
46	chr15:76030400-76031200	Active TSS	Primary T helper cells PMA-I stimulated	--
47	chr15:76030400-76031200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
48	chr15:76030400-76031200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
49	chr15:76030400-76031200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr15:76030400-76031200	Active TSS	Muscle Satellite Cultured Cells	--

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