Variant report

Variant	rs10132641
Chromosome Location	chr14:104338258-104338259
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	SPI1	chr14:104338238-104338522	GM12878	blood:	n/a	chr14:104338413-104338426 chr14:104338407-104338420
2	MAX	chr14:104337995-104338932	ECC-1	luminal epithelium:	n/a	n/a
3	MAX	chr14:104338114-104339381	H1-hESC	embryonic stem cell:	n/a	n/a
4	GABPA	chr14:104338109-104338517	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr14:104338064-104338677	ECC-1	luminal epithelium:	n/a	n/a
6	EBF1	chr14:104338150-104338464	GM12878	blood:	n/a	n/a
7	NFIC	chr14:104337703-104338683	ECC-1	luminal epithelium:	n/a	n/a
8	POLR2A	chr14:104338241-104339056	GM18951	blood:	n/a	n/a
9	ZNF143	chr14:104338190-104338563	GM12878	blood:	n/a	chr14:104338327-104338345
10	POLR2A	chr14:104338126-104338973	GM12892	blood:	n/a	n/a
11	ELF1	chr14:104338017-104339017	GM12878	blood:	n/a	n/a
12	POLR2A	chr14:104338254-104338597	HCT-116	colon:	n/a	n/a
13	TCF3	chr14:104338181-104338469	GM12878	blood:	n/a	n/a
14	STAT1	chr14:104338234-104338557	GM12878	blood:	n/a	chr14:104338520-104338532
15	POLR2A	chr14:104338161-104338619	ECC-1	luminal epithelium:	n/a	n/a
16	MXI1	chr14:104338197-104339051	GM12878	blood:	n/a	n/a
17	POLR2A	chr14:104338251-104338584	GM12878	blood:	n/a	n/a
18	SP1	chr14:104338172-104338639	H1-hESC	embryonic stem cell:	n/a	chr14:104338381-104338393 chr14:104338370-104338379 chr14:104338517-104338529 chr14:104338518-104338532 chr14:104338393-104338403 chr14:104338369-104338379 chr14:104338381-104338393 chr14:104338519-104338528 chr14:104338369-104338379 chr14:104338382-104338392 chr14:104338382-104338392 chr14:104338518-104338528 chr14:104338405-104338416 chr14:104338517-104338529 chr14:104338518-104338527
19	MAX	chr14:104338224-104338982	H1-hESC	embryonic stem cell:	n/a	n/a
20	POLR2A	chr14:104338236-104338869	GM12878	blood:	n/a	n/a
21	POLR2A	chr14:104338159-104338582	HCT-116	colon:	n/a	n/a
22	MAX	chr14:104338034-104338950	ECC-1	luminal epithelium:	n/a	n/a
23	CHD2	chr14:104338244-104338542	GM12878	blood:	n/a	n/a
24	SP1	chr14:104338175-104338572	GM12878	blood:	n/a	chr14:104338381-104338393 chr14:104338370-104338379 chr14:104338517-104338529 chr14:104338518-104338532 chr14:104338393-104338403 chr14:104338369-104338379 chr14:104338381-104338393 chr14:104338519-104338528 chr14:104338369-104338379 chr14:104338382-104338392 chr14:104338382-104338392 chr14:104338518-104338528 chr14:104338405-104338416 chr14:104338517-104338529 chr14:104338518-104338527
25	HMGN3	chr14:104338005-104338789	K562	blood:	n/a	n/a
26	MAZ	chr14:104338182-104339151	GM12878	blood:	n/a	n/a
27	SP4	chr14:104338163-104338615	H1-hESC	embryonic stem cell:	n/a	chr14:104338364-104338380 chr14:104338366-104338382 chr14:104338379-104338395 chr14:104338405-104338416 chr14:104338377-104338393
28	MAX	chr14:104338151-104339177	GM12878	blood:	n/a	n/a
29	EGR1	chr14:104338176-104338490	K562	blood:	n/a	chr14:104338378-104338392 chr14:104338356-104338370 chr14:104338354-104338364
30	POLR2A	chr14:104338227-104338635	GM15510	blood:	n/a	n/a
31	EGR1	chr14:104338102-104338602	ECC-1	luminal epithelium:	n/a	chr14:104338520-104338533 chr14:104338378-104338392 chr14:104338356-104338370 chr14:104338354-104338364
32	CCNT2	chr14:104338254-104338463	K562	blood:	n/a	n/a
33	MAZ	chr14:104338244-104338812	K562	blood:	n/a	n/a
34	MAX	chr14:104338191-104338631	K562	blood:	n/a	n/a
35	POLR2A	chr14:104338215-104338401	H1-hESC	embryonic stem cell:	n/a	n/a
36	MAX	chr14:104338164-104338591	A549	lung:	n/a	n/a
37	ZEB1	chr14:104338122-104338513	GM12878	blood:	n/a	chr14:104338346-104338357
38	EGR1	chr14:104338227-104338557	H1-hESC	embryonic stem cell:	n/a	chr14:104338520-104338533 chr14:104338378-104338392 chr14:104338356-104338370 chr14:104338354-104338364
39	SP1	chr14:104338137-104338640	GM12878	blood:	n/a	chr14:104338381-104338393 chr14:104338370-104338379 chr14:104338517-104338529 chr14:104338518-104338532 chr14:104338393-104338403 chr14:104338369-104338379 chr14:104338381-104338393 chr14:104338519-104338528 chr14:104338369-104338379 chr14:104338382-104338392 chr14:104338382-104338392 chr14:104338518-104338528 chr14:104338405-104338416 chr14:104338517-104338529 chr14:104338518-104338527
40	SP4	chr14:104338203-104338574	H1-hESC	embryonic stem cell:	n/a	chr14:104338364-104338380 chr14:104338366-104338382 chr14:104338379-104338395 chr14:104338405-104338416 chr14:104338377-104338393
41	TCF12	chr14:104337840-104338698	ECC-1	luminal epithelium:	n/a	chr14:104338644-104338654 chr14:104338348-104338358
42	ZBTB7A	chr14:104337869-104338983	ECC-1	luminal epithelium:	n/a	n/a
43	POLR2A	chr14:104338158-104338664	GM12878	blood:	n/a	n/a
44	EGR1	chr14:104338250-104338513	K562	blood:	n/a	chr14:104338378-104338392 chr14:104338356-104338370 chr14:104338354-104338364
45	IRF1	chr14:104338177-104338634	K562	blood:	n/a	chr14:104338392-104338406 chr14:104338403-104338417 chr14:104338381-104338395
46	POLR2A	chr14:104338225-104339129	GM12878	blood:	n/a	n/a
47	TBP	chr14:104338164-104338378	H1-hESC	embryonic stem cell:	n/a	n/a
48	ZBTB7A	chr14:104337830-104338812	ECC-1	luminal epithelium:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:104321201..104322886-chr14:104337478..104339238,2	MCF-7	breast:
2	chr14:104336130..104339253-chr14:104343612..104346035,4	MCF-7	breast:
3	chr14:104333923..104335751-chr14:104336446..104338911,2	MCF-7	breast:
4	chr14:104330975..104333477-chr14:104336813..104338473,2	MCF-7	breast:
5	chr14:104324206..104326944-chr14:104336332..104338348,2	MCF-7	breast:
6	chr14:104336626..104338595-chr14:104355620..104357453,2	MCF-7	breast:
7	chr14:104308064..104309884-chr14:104336014..104338785,2	MCF-7	breast:
8	chr14:104313504..104315492-chr14:104337844..104339348,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000258914	TF binding region
ENSG00000088808	Chromatin interaction
ENSG00000258735	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10135198	0.91[ASN][1000 genomes]
rs10135270	0.93[ASN][1000 genomes]
rs10139856	0.88[ASN][1000 genomes]
rs10438242	0.94[ASN][1000 genomes]
rs10438243	0.81[ASN][1000 genomes]
rs10438244	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs11160769	0.83[ASN][1000 genomes]
rs11160770	0.85[ASN][1000 genomes]
rs12879686	0.85[ASN][1000 genomes]
rs12891477	0.86[EUR][1000 genomes]
rs35551424	0.95[ASN][1000 genomes]
rs35924317	0.85[ASN][1000 genomes]
rs4900601	0.86[ASN][1000 genomes]
rs55696130	0.80[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs55924227	0.85[ASN][1000 genomes]
rs56126771	0.85[ASN][1000 genomes]
rs6576010	0.91[ASN][1000 genomes]
rs66473563	0.85[ASN][1000 genomes]
rs67727470	0.84[ASN][1000 genomes]
rs71417884	0.81[ASN][1000 genomes]
rs71417885	0.81[ASN][1000 genomes]
rs72712857	0.81[ASN][1000 genomes]
rs8008020	0.87[ASN][1000 genomes]
rs8015761	0.88[ASN][1000 genomes]
rs881056	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs881057	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045162	chr14:104140525-104594841	Flanking Active TSS Strong transcription Bivalent Enhancer Enhancers Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv542204	chr14:104140525-104594841	Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	esv2758368	chr14:104147525-104412813	Active TSS Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	esv2760013	chr14:104147525-104412813	Enhancers Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
5	nsv902313	chr14:104162263-104378087	Bivalent Enhancer Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
6	nsv902318	chr14:104255083-104464809	Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS 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	30 gene(s)	inside rSNPs	diseases
7	nsv902319	chr14:104255083-104620077	Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	64 gene(s)	inside rSNPs	diseases
8	esv1838047	chr14:104283104-104359121	Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
9	nsv902321	chr14:104283104-104378087	Strong transcription Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
10	esv1818596	chr14:104312697-104359121	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
11	esv1836134	chr14:104312697-104359121	Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
12	nsv1053305	chr14:104326137-104372608	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
13	nsv542205	chr14:104326137-104372608	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
14	nsv542206	chr14:104326137-104377507	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
15	nsv1042792	chr14:104326137-104384260	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
16	nsv542207	chr14:104326137-104384260	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:104333800-104338400	Enhancers	Placenta	Placenta
2	chr14:104334000-104338400	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr14:104334400-104338600	Weak transcription	Brain Anterior Caudate	brain
4	chr14:104334600-104338600	Weak transcription	Brain Substantia Nigra	brain
5	chr14:104334600-104338600	Weak transcription	Fetal Lung	lung
6	chr14:104334800-104338600	Weak transcription	Brain Cingulate Gyrus	brain
7	chr14:104335000-104338400	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr14:104336400-104339200	Enhancers	HepG2	liver
9	chr14:104336800-104338400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr14:104337400-104338400	Enhancers	Primary T helper naive cells from peripheral blood	blood
11	chr14:104337600-104338600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr14:104337600-104338600	Enhancers	Stomach Mucosa	stomach
13	chr14:104337800-104338400	Enhancers	Primary hematopoietic stem cells	blood
14	chr14:104337800-104338400	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr14:104337800-104338400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
16	chr14:104337800-104338400	Enhancers	Lung	lung
17	chr14:104337800-104338600	Enhancers	K562	blood
18	chr14:104337800-104338800	Active TSS	Rectal Mucosa Donor 29	rectum
19	chr14:104337800-104339200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr14:104337800-104339200	Flanking Active TSS	Colonic Mucosa	Colon
21	chr14:104337800-104339400	Enhancers	Fetal Heart	heart
22	chr14:104338000-104338400	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr14:104338000-104338400	Enhancers	Primary B cells from cord blood	blood
24	chr14:104338000-104338400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr14:104338000-104338400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr14:104338000-104338400	Enhancers	Fetal Muscle Leg	muscle
27	chr14:104338000-104338400	Enhancers	Fetal Stomach	stomach
28	chr14:104338000-104338400	Enhancers	Right Atrium	heart
29	chr14:104338000-104338400	Enhancers	Sigmoid Colon	Sigmoid Colon
30	chr14:104338000-104338400	Enhancers	Stomach Smooth Muscle	stomach
31	chr14:104338000-104338400	Enhancers	HMEC	breast
32	chr14:104338000-104338600	Active TSS	HUES48 Cell Line	embryonic stem cell
33	chr14:104338000-104338600	Active TSS	iPS-18 Cell Line	embryonic stem cell
34	chr14:104338000-104338600	Active TSS	iPS-20b Cell Line	embryonic stem cell
35	chr14:104338000-104338600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr14:104338000-104338600	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr14:104338000-104338600	Active TSS	Primary T cells from cord blood	blood
38	chr14:104338000-104338600	Enhancers	Gastric	stomach
39	chr14:104338000-104338800	Active TSS	H9 Cell Line	embryonic stem cell
40	chr14:104338000-104338800	Active TSS	iPS-15b Cell Line	embryonic stem cell
41	chr14:104338000-104338800	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr14:104338000-104339000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr14:104338000-104339000	Active TSS	HUES64 Cell Line	embryonic stem cell
44	chr14:104338000-104339000	Flanking Active TSS	Primary B cells from peripheral blood	blood
45	chr14:104338000-104339000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
46	chr14:104338000-104339000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr14:104338000-104339000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
48	chr14:104338000-104339000	Flanking Active TSS	Left Ventricle	heart
49	chr14:104338000-104339000	Flanking Active TSS	Pancreas	Pancrea
50	chr14:104338000-104339200	Flanking Active TSS	Primary T cells fromperipheralblood	blood

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