Variant report

Variant	rs12883298
Chromosome Location	chr14:37131993-37131994
allele	C/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	SIN3AK20	chr14:37130484-37132555	MCF-7	breast:	n/a	n/a
2	CTCF	chr14:37131950-37132143	MCF-7	breast:	n/a	n/a
3	MYC	chr14:37131963-37132333	MCF-7	breast:	n/a	n/a
4	POLR2A	chr14:37131702-37132774	MCF-7	breast:	n/a	n/a
5	CTCF	chr14:37131920-37132070	MCF-7	breast:	n/a	n/a
6	SUZ12	chr14:37131119-37134255	NT2-D1	testis:	n/a	n/a
7	CTCF	chr14:37131956-37132223	MCF-7	breast:	n/a	n/a
8	POLR2A	chr14:37130786-37132365	MCF10A-Er-Src	breast:	n/a	n/a
9	MAX	chr14:37130724-37132399	A549	lung:	n/a	chr14:37131901-37131911 chr14:37131303-37131313
10	HMGN3	chr14:37131867-37132626	K562	blood:	n/a	n/a
11	GATA3	chr14:37131991-37132435	T-47D	breast:	n/a	n/a
12	POLR2A	chr14:37131800-37132773	MCF-7	breast:	n/a	n/a
13	MAX	chr14:37130611-37132437	MCF-7	breast:	n/a	chr14:37131901-37131911 chr14:37131303-37131313
14	ZNF263	chr14:37130816-37133564	HEK293-T-REx	kidney:	n/a	chr14:37131161-37131170
15	E2F6	chr14:37131576-37132151	A549	lung:	n/a	n/a
16	MYC	chr14:37131934-37132585	MCF-7	breast:	n/a	n/a
17	POLR2A	chr14:37130800-37132493	MCF10A-Er-Src	breast:	n/a	n/a
18	SUZ12	chr14:37131084-37133709	H1-hESC	embryonic stem cell:	n/a	n/a
19	HA-E2F1	chr14:37130625-37132391	MCF-7	breast:	n/a	chr14:37131381-37131395 chr14:37131305-37131314
20	CTBP2	chr14:37129970-37133601	H1-hESC	embryonic stem cell:	n/a	n/a
21	GATA3	chr14:37131980-37132420	T-47D	breast:	n/a	n/a
22	FOXA1	chr14:37131983-37132325	T-47D	breast:	n/a	n/a
23	CTCF	chr14:37131965-37132202	MCF-7	breast:	n/a	n/a
24	MAX	chr14:37130796-37132318	A549	lung:	n/a	chr14:37131901-37131911 chr14:37131303-37131313
25	CTCF	chr14:37131947-37132280	MCF-7	breast:	n/a	n/a
26	POLR2A	chr14:37131867-37132789	H1-neurons	neurons:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:37131975..37134895-chr14:37181236..37183653,2	MCF-7	breast:
2	chr14:37129600..37133163-chr14:37133957..37137315,6	K562	blood:
3	chr11:62554763..62556323-chr14:37131201..37132788,2	MCF-7	breast:
4	chr14:37123470..37126797-chr14:37128985..37133128,4	MCF-7	breast:
5	chr14:37126435..37129205-chr14:37130244..37132576,2	K562	blood:

Variant related genes	Relation type
ENSG00000258661	TF binding region
PAX9	TF binding region
ENSG00000185475	Chromatin interaction
ENSG00000258661	Chromatin interaction
ENSG00000198807	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs11621707	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11625262	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11627120	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11628029	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11629412	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11846499	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12882923	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12892031	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12893140	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12893199	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12897282	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12897452	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1569847	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1950362	0.84[ASN][1000 genomes]
rs1955734	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1955751	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1955752	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1983669	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1983670	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2073242	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2207535	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2207536	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2224031	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2295219	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4899813	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs5011317	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6571754	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6571758	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7142505	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7146835	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7148372	0.82[AFR][1000 genomes]
rs7149520	0.85[EUR][1000 genomes]
rs7156439	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7157598	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7158341	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7158851	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7158930	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7159629	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8004187	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8004560	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8005670	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs8008416	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8009118	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8010186	0.82[ASN][1000 genomes]
rs882231	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs882232	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs910506	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs910507	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs910508	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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	nsv1053685	chr14:36915643-37245920	Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
7	nsv917279	chr14:36953511-37146655	Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
8	nsv819585	chr14:37130627-37138654	Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv498084	chr14:37131404-37141112	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:37123400-37132000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
2	chr14:37130000-37133800	Bivalent Enhancer	Liver	Liver
3	chr14:37130200-37132000	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
4	chr14:37130400-37132200	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
5	chr14:37130400-37132400	Active TSS	A549	lung
6	chr14:37130400-37132600	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
7	chr14:37130400-37132800	Bivalent Enhancer	Fetal Heart	heart
8	chr14:37130400-37133400	Bivalent/Poised TSS	Primary T cells from cord blood	blood
9	chr14:37130400-37133400	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
10	chr14:37130400-37133600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
11	chr14:37130400-37133600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr14:37130600-37132000	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr14:37130600-37132000	Bivalent/Poised TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr14:37130600-37132000	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
15	chr14:37130600-37132000	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr14:37130600-37132400	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
17	chr14:37130600-37132800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr14:37130600-37132800	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
19	chr14:37130600-37132800	Active TSS	Hela-S3	cervix
20	chr14:37130600-37133000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
21	chr14:37130600-37133400	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
22	chr14:37130600-37133600	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr14:37130600-37133600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr14:37130600-37133600	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
25	chr14:37130600-37133600	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
26	chr14:37130600-37133800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
27	chr14:37130800-37132000	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
28	chr14:37130800-37132000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
29	chr14:37130800-37132000	Bivalent Enhancer	Brain Substantia Nigra	brain
30	chr14:37130800-37132200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
31	chr14:37130800-37132200	Bivalent/Poised TSS	Aorta	Aorta
32	chr14:37130800-37132600	Active TSS	NHDF-Ad	bronchial
33	chr14:37130800-37133200	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr14:37130800-37133200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
35	chr14:37130800-37133400	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
36	chr14:37131000-37132000	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr14:37131000-37132800	Bivalent Enhancer	Fetal Brain Male	brain
38	chr14:37131000-37133200	Bivalent Enhancer	Spleen	Spleen
39	chr14:37131000-37133400	Bivalent/Poised TSS	HSMM	muscle
40	chr14:37131000-37135600	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
41	chr14:37131000-37137200	Bivalent/Poised TSS	Thymus	Thymus
42	chr14:37131200-37132000	Bivalent Enhancer	Brain Angular Gyrus	brain
43	chr14:37131200-37132000	Enhancers	Gastric	stomach
44	chr14:37131200-37132000	Active TSS	Right Atrium	heart
45	chr14:37131200-37132200	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
46	chr14:37131200-37132400	Bivalent Enhancer	Primary hematopoietic stem cells	blood
47	chr14:37131200-37132600	Bivalent Enhancer	Small Intestine	intestine
48	chr14:37131200-37132600	Bivalent/Poised TSS	NH-A	brain
49	chr14:37131200-37133200	Bivalent Enhancer	Left Ventricle	heart
50	chr14:37131200-37133400	Bivalent Enhancer	Fetal Intestine Large	intestine

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