Variant report

Variant	rs8040674
Chromosome Location	chr15:74908132-74908133
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:518)
CpG islands
(count:0)
Chromatin interactive
region (count:26)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:518 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr15:74906874-74908613	H1-hESC	embryonic stem cell:	n/a	n/a
2	CREB1	chr15:74907538-74908600	K562	blood:	n/a	n/a
3	TBP	chr15:74907351-74908558	HepG2	liver:	n/a	n/a
4	USF2	chr15:74908026-74908259	H1-hESC	embryonic stem cell:	n/a	n/a
5	ZNF384	chr15:74907869-74908291	K562	blood:	n/a	n/a
6	PAX5	chr15:74907827-74908244	GM12878	blood:	n/a	n/a
7	TAF1	chr15:74907876-74908221	GM12878	blood:	n/a	n/a
8	RCOR1	chr15:74907942-74908214	K562	blood:	n/a	n/a
9	EBF1	chr15:74907845-74908263	GM12878	blood:	n/a	n/a
10	REST	chr15:74907880-74908166	SK-N-SH	brain:	n/a	n/a
11	SP1	chr15:74907902-74908631	HepG2	liver:	n/a	chr15:74908563-74908575 chr15:74908565-74908574 chr15:74908142-74908153 chr15:74908564-74908578
12	ELK4	chr15:74907878-74908381	HEK293	kidney:	n/a	chr15:74908173-74908184
13	BCLAF1	chr15:74907728-74908318	K562	blood:	n/a	n/a
14	SIX5	chr15:74907916-74908334	GM12878	blood:	n/a	n/a
15	TEAD4	chr15:74907684-74908303	K562	blood:	n/a	n/a
16	YY1	chr15:74907578-74908387	H1-hESC	embryonic stem cell:	n/a	chr15:74908301-74908312
17	SMC3	chr15:74906918-74908361	Hela-S3	cervix:	n/a	chr15:74907387-74907401
18	BRCA1	chr15:74906903-74908480	Hela-S3	cervix:	n/a	n/a
19	RCOR1	chr15:74906914-74908525	K562	blood:	n/a	n/a
20	POLR2A	chr15:74906805-74908927	GM12892	blood:	n/a	n/a
21	BHLHE40	chr15:74906785-74908548	GM12878	blood:	n/a	n/a
22	ETS1	chr15:74907848-74908378	GM12878	blood:	n/a	n/a
23	MTA3	chr15:74906550-74909234	GM12878	blood:	n/a	n/a
24	ETS1	chr15:74907746-74908359	A549	lung:	n/a	n/a
25	POLR2A	chr15:74906876-74909199	GM12878	blood:	n/a	n/a
26	POLR2A	chr15:74906714-74928682	K562	blood:	n/a	n/a
27	YY1	chr15:74907704-74908296	SK-N-SH_RA	brain:	n/a	n/a
28	MYBL2	chr15:74907715-74908735	HepG2	liver:	n/a	n/a
29	REST	chr15:74907896-74908321	SK-N-SH	brain:	n/a	n/a
30	BCLAF1	chr15:74906772-74908377	GM12878	blood:	n/a	chr15:74907113-74907122
31	BCL3	chr15:74907688-74908304	GM12878	blood:	n/a	n/a
32	SRF	chr15:74907941-74908175	HepG2	liver:	n/a	n/a
33	YY1	chr15:74907602-74908336	GM12891	blood:	n/a	chr15:74908301-74908312
34	FOXP2	chr15:74907886-74908272	SK-N-MC	brain:	n/a	n/a
35	ELK1	chr15:74907725-74908438	GM12878	blood:	n/a	n/a
36	ZBTB7A	chr15:74906852-74908933	K562	blood:	n/a	n/a
37	HA-E2F1	chr15:74906781-74908339	MCF-7	breast:	n/a	chr15:74907708-74907715 chr15:74907708-74907715 chr15:74907221-74907232 chr15:74907467-74907476 chr15:74906851-74906860 chr15:74907708-74907715
38	SIX5	chr15:74907853-74908236	A549	lung:	n/a	n/a
39	TAF1	chr15:74907809-74908413	PFSK-1	brain:	n/a	n/a
40	TBP	chr15:74907817-74908340	GM12878	blood:	n/a	n/a
41	MAX	chr15:74906940-74909038	NB4	blood:	n/a	n/a
42	GTF2F1	chr15:74907573-74908379	H1-hESC	embryonic stem cell:	n/a	n/a
43	REST	chr15:74906930-74909015	H1-neurons	neurons:	n/a	chr15:74908654-74908672 chr15:74907149-74907162 chr15:74907050-74907068 chr15:74907774-74907787
44	YY1	chr15:74907648-74908252	K562	blood:	n/a	n/a
45	RFX5	chr15:74906919-74908419	Hela-S3	cervix:	n/a	n/a
46	POLR2A	chr15:74908123-74908388	GM12891	blood:	n/a	n/a
47	TAL1	chr15:74907674-74908249	K562	blood:	n/a	n/a
48	POLR2A	chr15:74907651-74908418	A549	lung:	n/a	n/a
49	BHLHE40	chr15:74906920-74908829	K562	blood:	n/a	n/a
50	CHD2	chr15:74906776-74908505	GM12878	blood:	n/a	n/a

No data

(count:26 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:74906117..74908575-chr15:74963324..74967354,3	MCF-7	breast:
2	chr15:74782235..74783902-chr15:74907609..74909890,2	K562	blood:
3	chr15:74907686..74908305-chr7:138794042..138794708,2	NB4	blood:
4	chr15:74833358..74833979-chr15:74907910..74908942,3	Hela-S3	cervix:
5	chr15:74831828..74838842-chr15:74904667..74909546,11	MCF-7	breast:
6	chr15:74907146..74910030-chr15:74987199..74990600,3	MCF-7	breast:
7	chr15:74907274..74909845-chr15:75104512..75106785,2	MCF-7	breast:
8	chr15:74831674..74835918-chr15:74904604..74909555,13	K562	blood:
9	chr15:74751104..74753940-chr15:74907025..74909601,4	MCF-7	breast:
10	chr15:74906678..74909061-chr15:75078128..75081929,4	MCF-7	breast:
11	chr15:74907312..74908255-chr5:39074257..39074953,2	Hela-S3	cervix:
12	chr15:74906365..74908963-chr15:75246374..75249056,3	MCF-7	breast:
13	chr15:74907379..74908415-chr5:79783668..79784536,3	Hela-S3	cervix:
14	chr15:74830417..74841177-chr15:74901572..74909407,24	K562	blood:
15	chr15:74906121..74909052-chr15:74925659..74928383,2	K562	blood:
16	chr11:74109269..74109802-chr15:74907719..74908512,2	Hela-S3	cervix:
17	chr15:74836156..74839758-chr15:74905845..74909473,6	MCF-7	breast:
18	chr15:74753110..74753692-chr15:74907692..74908490,2	MCF-7	breast:
19	chr15:74831500..74835189-chr15:74905877..74910530,15	MCF-7	breast:
20	chr15:74906653..74908395-chr15:75135147..75137390,2	K562	blood:
21	chr15:74752041..74753655-chr15:74907402..74909986,3	K562	blood:
22	chr15:74907665..74908568-chr17:5014724..5015406,2	Hela-S3	cervix:
23	chr15:74906651..74909310-chr15:75228343..75231322,3	K562	blood:
24	chr15:74906299..74909390-chr15:75133726..75137690,7	MCF-7	breast:
25	chr15:74283818..74286051-chr15:74906696..74909135,2	MCF-7	breast:
26	chr15:74907410..74909925-chr15:75089055..75090678,2	MCF-7	breast:

No data

Variant related genes	Relation type
CLK3	TF binding region
ENSG00000260919	TF binding region
ENSG00000167840	Chromatin interaction
ENSG00000179151	Chromatin interaction
ENSG00000247240	Chromatin interaction
ENSG00000105939	Chromatin interaction
ENSG00000140506	Chromatin interaction
ENSG00000103653	Chromatin interaction
ENSG00000152380	Chromatin interaction
ENSG00000179361	Chromatin interaction
ENSG00000264386	Chromatin interaction
ENSG00000138629	Chromatin interaction
ENSG00000140474	Chromatin interaction
ENSG00000165434	Chromatin interaction
ENSG00000260103	Chromatin interaction
ENSG00000234327	Chromatin interaction
ENSG00000212279	Chromatin interaction
ENSG00000178741	Chromatin interaction
ENSG00000067221	Chromatin interaction
ENSG00000164327	Chromatin interaction
ENSG00000178718	Chromatin interaction
ENSG00000249042	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1030888	0.85[AMR][1000 genomes]
rs10459601	0.87[AMR][1000 genomes]
rs11072499	0.87[AMR][1000 genomes]
rs1128628	0.82[ASN][1000 genomes]
rs11857192	0.87[AMR][1000 genomes]
rs12439054	0.84[AMR][1000 genomes]
rs4073149	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4887156	0.87[AMR][1000 genomes]
rs4887158	0.87[AMR][1000 genomes]
rs56291837	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs59665282	0.87[AMR][1000 genomes]
rs6495112	0.87[AMR][1000 genomes]
rs6495119	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7170734	0.85[AMR][1000 genomes]
rs7175512	0.87[AMR][1000 genomes]
rs7497036	0.90[AMR][1000 genomes]
rs7497906	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs8023786	0.87[AMR][1000 genomes]
rs8028893	0.87[AMR][1000 genomes]
rs950323	0.89[AMR][1000 genomes]
rs9788672	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1809847	chr15:74734500-74948063	Genic enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	esv1812223	chr15:74869438-74948063	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv904379	chr15:74869438-75027880	Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Enhancers Genic enhancers 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	54 gene(s)	inside rSNPs	diseases
4	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
5	esv1814078	chr15:74884447-74948063	Weak transcription Strong transcription Active TSS Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
6	nsv457204	chr15:74885091-74948063	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
7	nsv569991	chr15:74885091-74948063	Strong transcription Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
8	nsv542434	chr15:74885329-74929552	Flanking Active TSS Genic enhancers Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
9	nsv1047943	chr15:74885329-74940857	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
10	nsv817698	chr15:74889163-75019449	Genic enhancers Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 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	chr15:74906200-74909000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
2	chr15:74906400-74908600	Active TSS	Brain Angular Gyrus	brain
3	chr15:74906400-74908600	Active TSS	Brain Inferior Temporal Lobe	brain
4	chr15:74906400-74908600	Active TSS	Skeletal Muscle Female	skeletal muscle
5	chr15:74906400-74909000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr15:74906400-74909200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr15:74906600-74908200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr15:74906600-74908200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr15:74906600-74908400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr15:74906600-74908400	Active TSS	Rectal Mucosa Donor 29	rectum
11	chr15:74906600-74908600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr15:74906600-74908600	Active TSS	Primary T killer naive cells fromperipheralblood	blood
13	chr15:74906600-74908800	Active TSS	Primary T helper naive cells from peripheral blood	blood
14	chr15:74906600-74908800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr15:74906600-74908800	Active TSS	Brain Cingulate Gyrus	brain
16	chr15:74906600-74909000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
17	chr15:74906600-74909000	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
18	chr15:74906600-74909000	Active TSS	Duodenum Mucosa	Duodenum
19	chr15:74906600-74909000	Active TSS	Duodenum Smooth Muscle	Duodenum
20	chr15:74906600-74909000	Active TSS	Fetal Brain Female	brain
21	chr15:74906600-74909000	Active TSS	Rectal Smooth Muscle	rectum
22	chr15:74906600-74909000	Active TSS	NHEK	skin
23	chr15:74906600-74909200	Active TSS	HUES64 Cell Line	embryonic stem cell
24	chr15:74906600-74909200	Active TSS	Fetal Kidney	kidney
25	chr15:74906600-74909200	Active TSS	Pancreatic Islets	Pancreatic Islet
26	chr15:74906600-74909200	Active TSS	A549	lung
27	chr15:74906600-74909400	Active TSS	ES-I3 Cell Line	embryonic stem cell
28	chr15:74906600-74909400	Active TSS	iPS-18 Cell Line	embryonic stem cell
29	chr15:74906600-74909400	Active TSS	Esophagus	oesophagus
30	chr15:74906600-74909400	Active TSS	NHDF-Ad	bronchial
31	chr15:74906600-74909600	Active TSS	H9 Cell Line	embryonic stem cell
32	chr15:74906600-74909600	Active TSS	Ovary	ovary
33	chr15:74906600-74909600	Active TSS	GM12878-XiMat	blood
34	chr15:74906600-74910000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr15:74906800-74908400	Active TSS	Fetal Stomach	stomach
36	chr15:74906800-74908600	Active TSS	Brain Substantia Nigra	brain
37	chr15:74906800-74908800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr15:74906800-74908800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
39	chr15:74906800-74908800	Active TSS	Primary T cells from cord blood	blood
40	chr15:74906800-74908800	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
41	chr15:74906800-74908800	Active TSS	Rectal Mucosa Donor 31	rectum
42	chr15:74906800-74909000	Active TSS	H1 Cell Line	embryonic stem cell
43	chr15:74906800-74909000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr15:74906800-74909000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr15:74906800-74909000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr15:74906800-74909000	Active TSS	iPS-20b Cell Line	embryonic stem cell
47	chr15:74906800-74909000	Active TSS	Breast Myoepithelial Primary Cells	Breast
48	chr15:74906800-74909000	Active TSS	Primary T killer memory cells from peripheral blood	blood
49	chr15:74906800-74909000	Active TSS	Brain Anterior Caudate	brain
50	chr15:74906800-74909000	Active TSS	Brain Hippocampus Middle	brain

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