Variant report

Variant	rs8006989
Chromosome Location	chr14:36786712-36786713
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	GATA3	chr14:36786674-36787323	MCF-7	breast:	n/a	chr14:36787209-36787230
2	STAT3	chr14:36786593-36787316	MCF10A-Er-Src	breast:	n/a	chr14:36786991-36787000 chr14:36786992-36787001
3	E2F4	chr14:36786711-36787204	MCF10A-Er-Src	breast:	n/a	n/a
4	FOS	chr14:36786606-36787276	MCF10A-Er-Src	breast:	n/a	chr14:36786990-36787002 chr14:36786991-36787001 chr14:36786992-36787001 chr14:36786992-36787000 chr14:36786990-36787001 chr14:36787047-36787056 chr14:36786993-36787000
5	FOS	chr14:36786379-36787340	MCF10A-Er-Src	breast:	n/a	chr14:36786990-36787002 chr14:36786991-36787001 chr14:36786992-36787001 chr14:36786992-36787000 chr14:36786990-36787001 chr14:36787047-36787056 chr14:36786993-36787000
6	FOS	chr14:36786587-36787607	MCF10A-Er-Src	breast:	n/a	chr14:36786990-36787002 chr14:36786991-36787001 chr14:36786992-36787001 chr14:36786992-36787000 chr14:36786990-36787001 chr14:36787047-36787056 chr14:36786993-36787000
7	FOS	chr14:36786593-36787341	MCF10A-Er-Src	breast:	n/a	chr14:36786990-36787002 chr14:36786991-36787001 chr14:36786992-36787001 chr14:36786992-36787000 chr14:36786990-36787001 chr14:36787047-36787056 chr14:36786993-36787000

No.	Distal block	Cell Line	Cell type
1	chr14:36778592..36784393-chr14:36785409..36790832,9	K562	blood:
2	chr14:36780690..36783423-chr14:36785409..36787697,2	K562	blood:
3	chr14:36784989..36787450-chr14:36787865..36790918,4	K562	blood:

Variant related genes	Relation type
MBIP	TF binding region
ENSG00000151332	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10220683	1.00[EUR][1000 genomes]
rs17104271	0.84[AFR][1000 genomes]
rs28454088	1.00[EUR][1000 genomes]
rs3909603	0.84[AFR][1000 genomes]
rs59711763	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59804868	1.00[EUR][1000 genomes]
rs59960391	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60975260	1.00[EUR][1000 genomes]
rs61535449	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7142790	1.00[EUR][1000 genomes]
rs7148901	1.00[EUR][1000 genomes]
rs8004802	1.00[EUR][1000 genomes]
rs8006305	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8017683	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs8018390	0.83[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040256	chr14:36501452-37172046	Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
2	nsv542040	chr14:36501452-37172046	Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
3	nsv1047290	chr14:36564568-37445157	Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	43 gene(s)	inside rSNPs	diseases
4	nsv1037952	chr14:36670484-37294692	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
5	nsv542042	chr14:36670484-37294692	Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
6	esv3429093	chr14:36674701-36827119	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	esv3367425	chr14:36674721-36827089	Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv1042408	chr14:36693910-36810554	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv542043	chr14:36693910-36810554	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
10	nsv534143	chr14:36747497-36787893	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	esv2752577	chr14:36768276-36805529	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	nsv1040487	chr14:36770813-36805621	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
13	nsv832771	chr14:36771007-36964041	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
14	nsv1054427	chr14:36780743-36819931	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:36765400-36788800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr14:36766600-36788000	Weak transcription	Fetal Heart	heart
3	chr14:36767400-36789200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr14:36767400-36789200	Weak transcription	Spleen	Spleen
5	chr14:36772600-36788800	Weak transcription	Stomach Mucosa	stomach
6	chr14:36773400-36789200	Weak transcription	Esophagus	oesophagus
7	chr14:36779200-36788600	Weak transcription	Fetal Intestine Small	intestine
8	chr14:36779400-36789000	Weak transcription	Colonic Mucosa	Colon
9	chr14:36780400-36788800	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr14:36780400-36789200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr14:36780400-36789200	Weak transcription	Small Intestine	intestine
12	chr14:36780600-36788400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr14:36780600-36788400	Weak transcription	Brain Cingulate Gyrus	brain
14	chr14:36780600-36788400	Weak transcription	Fetal Stomach	stomach
15	chr14:36780600-36788600	Weak transcription	Primary neutrophils fromperipheralblood	blood
16	chr14:36780600-36788600	Weak transcription	Colon Smooth Muscle	Colon
17	chr14:36780600-36789200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr14:36780800-36787400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr14:36780800-36788000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr14:36780800-36788000	Weak transcription	Stomach Smooth Muscle	stomach
21	chr14:36780800-36788400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr14:36780800-36788400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr14:36780800-36788600	Weak transcription	Thymus	Thymus
24	chr14:36781000-36786800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr14:36781000-36787000	Weak transcription	Fetal Brain Female	brain
26	chr14:36781000-36787400	Weak transcription	Primary T cells from cord blood	blood
27	chr14:36781000-36787400	Weak transcription	HSMM	muscle
28	chr14:36781000-36787800	Weak transcription	NHDF-Ad	bronchial
29	chr14:36781000-36787800	Weak transcription	NHLF	lung
30	chr14:36781000-36788000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr14:36781000-36788000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr14:36781000-36788000	Weak transcription	Fetal Brain Male	brain
33	chr14:36781000-36788400	Weak transcription	Fetal Kidney	kidney
34	chr14:36781000-36788400	Weak transcription	Fetal Muscle Leg	muscle
35	chr14:36781000-36788400	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr14:36781000-36788600	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr14:36781000-36788600	Weak transcription	Aorta	Aorta
38	chr14:36781000-36788600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr14:36781000-36788600	Weak transcription	Ovary	ovary
40	chr14:36781000-36788600	Weak transcription	Psoas Muscle	Psoas
41	chr14:36781000-36788600	Weak transcription	Rectal Smooth Muscle	rectum
42	chr14:36781000-36788600	Weak transcription	HSMMtube	muscle
43	chr14:36781000-36788800	Weak transcription	Right Ventricle	heart
44	chr14:36781000-36789000	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr14:36781000-36789200	Weak transcription	Gastric	stomach
46	chr14:36781000-36789200	Weak transcription	Left Ventricle	heart
47	chr14:36781000-36789200	Weak transcription	Lung	lung
48	chr14:36781000-36789200	Weak transcription	Pancreas	Pancrea
49	chr14:36781200-36787200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr14:36781200-36788400	Weak transcription	Rectal Mucosa Donor 31	rectum

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