Variant report

Variant	rs60183626
Chromosome Location	chr14:35024310-35024311
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:45)
CpG islands
(count:0)
Chromatin interactive
region (count:59)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:45 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:35023754-35026314	MCF-7	breast:	n/a	n/a
2	MAFK	chr14:35023698-35024449	Hela-S3	cervix:	n/a	chr14:35024069-35024084 chr14:35024069-35024085
3	POLR2A	chr14:35024090-35024456	ECC-1	luminal epithelium:	n/a	n/a
4	POLR2A	chr14:35023758-35024434	HepG2	liver:	n/a	n/a
5	POLR2A	chr14:35023898-35026098	PANC-1	pancreas:	n/a	n/a
6	MAFF	chr14:35024068-35024415	K562	blood:	n/a	n/a
7	USF2	chr14:35024229-35024391	K562	blood:	n/a	n/a
8	POLR2A	chr14:35023272-35026000	MCF-7	breast:	n/a	n/a
9	POLR2A	chr14:35023186-35026149	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr14:35024151-35024432	GM12891	blood:	n/a	n/a
11	POLR2A	chr14:35023940-35024502	MCF10A-Er-Src	breast:	n/a	n/a
12	ZNF274	chr14:35023989-35024439	K562	blood:	n/a	n/a
13	POLR2A	chr14:35024086-35026234	GM12892	blood:	n/a	n/a
14	MAFK	chr14:35023854-35024516	IMR90	lung:	n/a	chr14:35024069-35024084 chr14:35024069-35024085
15	SMC3	chr14:35023836-35024342	Hela-S3	cervix:	n/a	n/a
16	FOXA1	chr14:35024044-35024492	T-47D	breast:	n/a	n/a
17	MAFF	chr14:35023969-35024314	HepG2	liver:	n/a	chr14:35024067-35024085
18	POLR2A	chr14:35023537-35024583	Hela-S3	cervix:	n/a	n/a
19	POLR2A	chr14:35024028-35026579	GM12878	blood:	n/a	n/a
20	GTF2F1	chr14:35023741-35024343	Hela-S3	cervix:	n/a	n/a
21	TAL1	chr14:35023346-35024536	K562	blood:	n/a	n/a
22	POLR2A	chr14:35024106-35026066	Hela-S3	cervix:	n/a	n/a
23	TBL1XR1	chr14:35023790-35024410	K562	blood:	n/a	n/a
24	FOXA1	chr14:35024087-35024403	T-47D	breast:	n/a	n/a
25	POLR2A	chr14:35023986-35024380	PBDE	blood:	n/a	n/a
26	HEY1	chr14:35023808-35026149	K562	blood:	n/a	n/a
27	POLR2A	chr14:35024183-35026003	MCF-7	breast:	n/a	n/a
28	POLR2A	chr14:35023377-35024463	Hela-S3	cervix:	n/a	n/a
29	POLR2A	chr14:35023862-35026556	GM12878	blood:	n/a	n/a
30	CHD2	chr14:35024191-35024401	K562	blood:	n/a	n/a
31	BRCA1	chr14:35023991-35024416	Hela-S3	cervix:	n/a	n/a
32	POLR2A	chr14:35024274-35026338	ProgFib	skin:	n/a	n/a
33	POLR2A	chr14:35024112-35026159	HUVEC	blood vessel:	n/a	n/a
34	MAFK	chr14:35023972-35024411	HepG2	liver:	n/a	chr14:35024069-35024084 chr14:35024069-35024085
35	RCOR1	chr14:35024123-35024426	Hela-S3	cervix:	n/a	n/a
36	POLR2A	chr14:35021720-35024608	IMR90	lung:	n/a	n/a
37	MAZ	chr14:35024206-35024439	Hela-S3	cervix:	n/a	n/a
38	HEY1	chr14:35023770-35024452	HepG2	liver:	n/a	n/a
39	POLR2A	chr14:35023689-35024519	MCF10A-Er-Src	breast:	n/a	n/a
40	POLR2A	chr14:35024291-35026398	K562	blood:	n/a	n/a
41	IKZF1	chr14:35023705-35024566	GM12878	blood:	n/a	n/a
42	ELK1	chr14:35024182-35024371	K562	blood:	n/a	n/a
43	MXI1	chr14:35024252-35024440	K562	blood:	n/a	n/a
44	POLR2A	chr14:35024177-35026320	PFSK-1	brain:	n/a	n/a
45	POLR2A	chr14:35023583-35024534	HUVEC	blood vessel:	n/a	n/a

No data

(count:59 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr14:35023414..35025867-chr20:31441150..31442670,4	MCF-7	breast:
2	chr14:35022817..35025069-chr14:35933418..35935957,2	MCF-7	breast:
3	chr14:35023215..35025386-chr14:35216421..35218330,2	MCF-7	breast:
4	chr14:35024188..35025869-chr16:1830274..1832338,2	MCF-7	breast:
5	chr14:35022467..35024689-chr14:35444966..35447403,2	MCF-7	breast:
6	chr1:107418660..107420382-chr14:35022514..35024673,2	MCF-7	breast:
7	chr14:35023547..35025305-chr14:35032429..35034005,2	MCF-7	breast:
8	chr14:35023701..35025768-chr14:35449276..35451419,2	K562	blood:
9	chr14:35022740..35024349-chr6:32134651..32136164,2	MCF-7	breast:
10	chr14:35022806..35025689-chr14:74057393..74058972,2	MCF-7	breast:
11	chr14:35022505..35025054-chr14:35199460..35201377,2	MCF-7	breast:
12	chr14:35009037..35010904-chr14:35021766..35024411,2	K562	blood:
13	chr14:35022539..35025253-chr14:35341911..35344807,2	K562	blood:
14	chr12:102444900..102445792-chr14:35023912..35024895,2	MCF-7	breast:
15	chr14:35022886..35025280-chr14:35180492..35183449,2	MCF-7	breast:
16	chr14:35022750..35025769-chr14:35096151..35100054,3	MCF-7	breast:
17	chr14:35022063..35024959-chr14:35748089..35750712,2	MCF-7	breast:
18	chr14:35022083..35024389-chr14:35233897..35236737,2	MCF-7	breast:
19	chr14:35022483..35025018-chr17:59483690..59486077,2	MCF-7	breast:
20	chr14:34805162..34808153-chr14:35022968..35024996,2	K562	blood:
21	chr14:35022588..35025405-chr14:35037071..35038879,2	MCF-7	breast:
22	chr14:35005284..35011388-chr14:35017198..35025900,23	MCF-7	breast:
23	chr14:31495114..31496934-chr14:35023184..35025279,2	MCF-7	breast:
24	chr14:35022853..35025221-chr22:30818652..30820159,2	MCF-7	breast:
25	chr14:34791536..34796639-chr14:35020421..35025152,7	MCF-7	breast:
26	chr14:35022523..35025460-chr19:12902123..12904881,2	MCF-7	breast:
27	chr14:35006425..35010904-chr14:35021704..35025428,9	K562	blood:
28	chr14:34851992..34854848-chr14:35021871..35024869,2	MCF-7	breast:
29	chr14:34799146..34802383-chr14:35022565..35025550,6	K562	blood:
30	chr14:35022462..35024393-chr6:26270977..26273299,2	MCF-7	breast:
31	chr14:35022885..35025060-chr14:36287883..36289508,2	MCF-7	breast:
32	chr14:35023610..35025469-chr22:31739706..31742330,2	MCF-7	breast:
33	chr14:35022502..35024763-chr14:35896936..35899031,2	MCF-7	breast:
34	chr14:35022539..35025103-chr14:35884272..35887413,3	MCF-7	breast:
35	chr14:35023387..35025537-chr14:35125652..35127152,2	MCF-7	breast:
36	chr14:35023723..35025337-chr15:60689241..60692236,2	MCF-7	breast:
37	chr14:35022313..35024405-chr14:35095448..35098245,2	K562	blood:
38	chr14:35024305..35025887-chr16:30100642..30102601,2	MCF-7	breast:
39	chr14:34903790..34905906-chr14:35022727..35024666,2	MCF-7	breast:
40	chr14:34930870..34933138-chr14:35022448..35024439,2	K562	blood:
41	chr14:35022921..35025122-chr14:35460718..35462320,2	MCF-7	breast:
42	chr14:35022264..35024691-chr14:35035748..35038423,2	MCF-7	breast:
43	chr14:35022414..35024723-chr14:35239997..35243465,4	MCF-7	breast:
44	chr14:34836857..34839880-chr14:35023528..35025416,3	MCF-7	breast:
45	chr14:34965733..34968231-chr14:35022336..35025245,2	MCF-7	breast:
46	chr14:35022487..35025336-chr3:64031766..64034078,2	MCF-7	breast:
47	chr12:93961884..93964105-chr14:35022674..35024347,2	MCF-7	breast:
48	chr14:35022816..35025291-chr17:59458529..59460217,2	MCF-7	breast:
49	chr14:34924779..34927186-chr14:35023587..35025160,2	K562	blood:
50	chr14:35023692..35025775-chr17:56708802..56710640,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000259135	TF binding region
ENSG00000101040	Chromatin interaction
ENSG00000100478	Chromatin interaction
ENSG00000198604	Chromatin interaction
ENSG00000177465	Chromatin interaction
ENSG00000165389	Chromatin interaction
ENSG00000129515	Chromatin interaction
ENSG00000260536	Chromatin interaction
ENSG00000168242	Chromatin interaction
ENSG00000240463	Chromatin interaction
ENSG00000129518	Chromatin interaction
ENSG00000258300	Chromatin interaction
ENSG00000100883	Chromatin interaction
ENSG00000162032	Chromatin interaction
ENSG00000256018	Chromatin interaction
ENSG00000258738	Chromatin interaction
ENSG00000100105	Chromatin interaction
ENSG00000266934	Chromatin interaction
ENSG00000196792	Chromatin interaction
ENSG00000095066	Chromatin interaction
ENSG00000129521	Chromatin interaction
ENSG00000165410	Chromatin interaction
ENSG00000241404	Chromatin interaction
ENSG00000149922	Chromatin interaction
ENSG00000182718	Chromatin interaction
ENSG00000218690	Chromatin interaction
ENSG00000171223	Chromatin interaction
ENSG00000120833	Chromatin interaction
ENSG00000212195	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs58909728	0.87[EUR][1000 genomes]
rs67163867	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72673450	0.82[EUR][1000 genomes]
rs72673460	0.91[EUR][1000 genomes]
rs72673462	0.91[EUR][1000 genomes]
rs72673463	1.00[EUR][1000 genomes]
rs72673478	1.00[EUR][1000 genomes]
rs72675213	0.87[EUR][1000 genomes]
rs72675222	0.87[EUR][1000 genomes]
rs72675225	0.87[EUR][1000 genomes]
rs72675227	0.87[EUR][1000 genomes]
rs72675230	0.82[EUR][1000 genomes]
rs72675232	0.82[EUR][1000 genomes]
rs72675239	0.82[EUR][1000 genomes]
rs7766	0.87[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040980	chr14:34345018-35255592	Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Genic 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	109 gene(s)	inside rSNPs	diseases
2	nsv1048408	chr14:34958352-35255592	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
3	nsv1049048	chr14:34969406-35048672	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
4	nsv1037503	chr14:34980184-35027115	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
5	nsv564194	chr14:34985645-35029396	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
6	esv3392700	chr14:34989406-35365530	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
7	esv2761826	chr14:35009633-35027508	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:35009000-35033000	Weak transcription	Gastric	stomach
2	chr14:35017400-35036000	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr14:35023200-35024400	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr14:35023200-35024400	Enhancers	Fetal Intestine Large	intestine
5	chr14:35023200-35024400	Enhancers	Fetal Thymus	thymus
6	chr14:35023400-35024400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr14:35023400-35024400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr14:35023400-35024400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr14:35023400-35024400	Enhancers	Primary neutrophils fromperipheralblood	blood
10	chr14:35023400-35024400	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr14:35023400-35024400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr14:35023400-35024400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr14:35023400-35024400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr14:35023400-35024400	Enhancers	Duodenum Smooth Muscle	Duodenum
15	chr14:35023400-35024400	Enhancers	Pancreas	Pancrea
16	chr14:35023400-35024400	Enhancers	Rectal Mucosa Donor 31	rectum
17	chr14:35023400-35024400	Enhancers	Stomach Mucosa	stomach
18	chr14:35023400-35024400	Flanking Active TSS	Hela-S3	cervix
19	chr14:35023400-35024400	Enhancers	K562	blood
20	chr14:35023400-35024400	Enhancers	NHLF	lung
21	chr14:35023400-35024600	Enhancers	Fetal Muscle Leg	muscle
22	chr14:35023600-35024400	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr14:35023600-35024400	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr14:35023600-35024400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr14:35023600-35024400	Enhancers	Primary hematopoietic stem cells	blood
26	chr14:35023600-35024400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr14:35023600-35024400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr14:35023600-35024400	Enhancers	Colonic Mucosa	Colon
29	chr14:35023600-35024400	Enhancers	Placenta	Placenta
30	chr14:35023600-35024400	Enhancers	Small Intestine	intestine
31	chr14:35023600-35024400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
32	chr14:35023600-35032000	Weak transcription	Lung	lung
33	chr14:35023600-35035400	Weak transcription	Aorta	Aorta
34	chr14:35023800-35024400	Enhancers	H1 Cell Line	embryonic stem cell
35	chr14:35023800-35024400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr14:35023800-35024400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr14:35023800-35024400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr14:35023800-35024400	Enhancers	Primary B cells from cord blood	blood
39	chr14:35023800-35024400	Enhancers	Primary T cells fromperipheralblood	blood
40	chr14:35023800-35024400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
41	chr14:35023800-35024400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
42	chr14:35023800-35024400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr14:35023800-35024400	Enhancers	Muscle Satellite Cultured Cells	--
44	chr14:35023800-35024400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr14:35023800-35024400	Enhancers	Adipose Nuclei	Adipose
46	chr14:35023800-35024400	Enhancers	Brain Substantia Nigra	brain
47	chr14:35023800-35024400	Enhancers	Fetal Lung	lung
48	chr14:35023800-35024400	Enhancers	Fetal Stomach	stomach
49	chr14:35023800-35024400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
50	chr14:35023800-35024400	Enhancers	Skeletal Muscle Male	skeletal muscle

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