Variant report

Variant	rs2236007
Chromosome Location	chr14:37132769-37132770
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:12)
CpG islands
(count:61)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:12 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SIN3A	chr14:37132193-37133147	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr14:37131702-37132774	MCF-7	breast:	n/a	n/a
3	SUZ12	chr14:37131119-37134255	NT2-D1	testis:	n/a	n/a
4	POLR2A	chr14:37132012-37132876	H1-neurons	neurons:	n/a	n/a
5	POLR2A	chr14:37131800-37132773	MCF-7	breast:	n/a	n/a
6	ZNF263	chr14:37130816-37133564	HEK293-T-REx	kidney:	n/a	chr14:37131161-37131170
7	CTCF	chr14:37132660-37132810	SAEC	small airway:	n/a	n/a
8	SUZ12	chr14:37131084-37133709	H1-hESC	embryonic stem cell:	n/a	n/a
9	EGR1	chr14:37132534-37133312	H1-hESC	embryonic stem cell:	n/a	chr14:37132766-37132779 chr14:37133002-37133015 chr14:37132761-37132783 chr14:37132766-37132779 chr14:37132766-37132779
10	CTBP2	chr14:37129970-37133601	H1-hESC	embryonic stem cell:	n/a	n/a
11	MAX	chr14:37132042-37133212	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr14:37131867-37132789	H1-neurons	neurons:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:37132764-37132814	NHBE	bronchial:	n/a
2	chr14:37132764-37132814	ovcar-3	ovarian:	n/a
3	chr14:37132764-37132814	HCM	heart:	n/a
4	chr14:37132764-37132814	IMR90	lung:	fetal
5	chr14:37132764-37132814	LNCaP	prostate:	n/a
6	chr14:37132764-37132814	PFSK-1	brain:	n/a
7	chr14:37132764-37132814	MCF10A-Er-Src	breast:	n/a
8	chr14:37132764-37132814	HMEC	breast:	n/a
9	chr14:37132764-37132814	HepG2	liver:	n/a
10	chr14:37132764-37132814	T-47D	breast:	n/a
11	chr14:37132764-37132814	NT2-D1	testis:	n/a
12	chr14:37132764-37132814	NHDF-neo	bronchial:	n/a
13	chr14:37132764-37132814	HRPEpiC	eye:	n/a
14	chr14:37132764-37132814	Hepatocyte	liver:	n/a
15	chr14:37132764-37132814	GM12878	blood:	n/a
16	chr14:37132764-37132814	HL-60	blood:	n/a
17	chr14:37132764-37132814	SK-N-SH_RA	brain:	n/a
18	chr14:37132764-37132814	MCF-7	breast:	n/a
19	chr14:37132764-37132814	NB4	blood:	n/a
20	chr14:37132764-37132814	PrEC	prostate:	n/a
21	chr14:37132764-37132814	Hela-S3	cervix:	n/a
22	chr14:37132764-37132814	AG09319	gingival:	n/a
23	chr14:37132764-37132814	GM12891	blood:	n/a
24	chr14:37132764-37132814	HNPCEpiC	eye:	n/a
25	chr14:37132764-37132814	GM06990	blood:	n/a
26	chr14:37132764-37132814	AG04449	skin:	fetal
27	chr14:37132764-37132814	GM12892	blood:	n/a
28	chr14:37132764-37132814	Jurkat	blood:	n/a
29	chr14:37132764-37132814	AoSMC	blood vessel:	n/a
30	chr14:37132764-37132814	HEK293	kidney:	embryo
31	chr14:37132764-37132814	SKMC	muscle:	n/a
32	chr14:37132764-37132814	HRE	kidney:	n/a
33	chr14:37132764-37132814	GM19239	blood:	n/a
34	chr14:37132764-37132814	SK-N-SH	brain:	n/a
35	chr14:37132764-37132814	BE2_C	brain:	n/a
36	chr14:37132764-37132814	NH-A	brain:	n/a
37	chr14:37132764-37132814	A549	lung:	n/a
38	chr14:37132764-37132814	RPTEC	kidney:	n/a
39	chr14:37132764-37132814	HPAEpiC	pulmonary alveolar:	n/a
40	chr14:37132764-37132814	ECC-1	luminal epithelium:	n/a
41	chr14:37132764-37132814	HCT-116	colon:	n/a
42	chr14:37132764-37132814	H1-hESC	embryonic stem cell:	embryo
43	chr14:37132764-37132814	ProgFib	skin:	n/a
44	chr14:37132764-37132814	PANC-1	pancreas:	n/a
45	chr14:37132764-37132814	HAEpiC	amniotic membrane:	n/a
46	chr14:37132764-37132814	SAEC	small airway:	n/a
47	chr14:37132764-37132814	HRCEpiC	kidney:	n/a
48	chr14:37132764-37132814	HCF	heart:	n/a
49	chr14:37132764-37132814	Caco-2	colon:	n/a
50	chr14:37132764-37132814	U87	brain:	n/a

(count:4 , 50 per page) page: 1

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:

No data

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

Extended variants
information (count: 22 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1018464	0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11848377	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12878491	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12881240	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12881439	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12883049	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12885612	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12895715	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34808452	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs34914085	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs67155512	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7149262	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72679711	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[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

Variant related diseases (count:1)

Disease	PMID	Source
Breast cancer	23535729	GWAS catalog

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:37130000-37133800	Bivalent Enhancer	Liver	Liver
2	chr14:37130400-37132800	Bivalent Enhancer	Fetal Heart	heart
3	chr14:37130400-37133400	Bivalent/Poised TSS	Primary T cells from cord blood	blood
4	chr14:37130400-37133400	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
5	chr14:37130400-37133600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
6	chr14:37130400-37133600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr14:37130600-37132800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr14:37130600-37132800	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
9	chr14:37130600-37132800	Active TSS	Hela-S3	cervix
10	chr14:37130600-37133000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
11	chr14:37130600-37133400	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
12	chr14:37130600-37133600	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr14:37130600-37133600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr14:37130600-37133600	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
15	chr14:37130600-37133600	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
16	chr14:37130600-37133800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
17	chr14:37130800-37133200	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr14:37130800-37133200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
19	chr14:37130800-37133400	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
20	chr14:37131000-37132800	Bivalent Enhancer	Fetal Brain Male	brain
21	chr14:37131000-37133200	Bivalent Enhancer	Spleen	Spleen
22	chr14:37131000-37133400	Bivalent/Poised TSS	HSMM	muscle
23	chr14:37131000-37135600	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
24	chr14:37131000-37137200	Bivalent/Poised TSS	Thymus	Thymus
25	chr14:37131200-37133200	Bivalent Enhancer	Left Ventricle	heart
26	chr14:37131200-37133400	Bivalent Enhancer	Fetal Intestine Large	intestine
27	chr14:37131200-37133600	Bivalent Enhancer	Fetal Lung	lung
28	chr14:37131200-37134000	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
29	chr14:37131400-37132800	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
30	chr14:37131400-37132800	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
31	chr14:37131400-37132800	Flanking Bivalent TSS/Enh	HUVEC	blood vessel
32	chr14:37131400-37133000	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
33	chr14:37131400-37133200	Bivalent Enhancer	Placenta	Placenta
34	chr14:37131400-37133400	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr14:37131400-37133400	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
36	chr14:37131400-37133400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
37	chr14:37131400-37133400	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr14:37131400-37133600	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
39	chr14:37131400-37133800	Transcr. at gene 5' and 3'	Esophagus	oesophagus
40	chr14:37131600-37132800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr14:37131600-37132800	Flanking Bivalent TSS/Enh	Brain Cingulate Gyrus	brain
42	chr14:37131600-37132800	Flanking Bivalent TSS/Enh	Right Ventricle	heart
43	chr14:37131600-37132800	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
44	chr14:37131600-37132800	Flanking Bivalent TSS/Enh	HMEC	breast
45	chr14:37131600-37133000	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
46	chr14:37131600-37133000	Flanking Bivalent TSS/Enh	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr14:37131600-37133000	Enhancers	Ovary	ovary
48	chr14:37131600-37133000	Flanking Bivalent TSS/Enh	NHEK	skin
49	chr14:37131600-37133200	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr14:37131600-37133200	Bivalent Enhancer	Lung	lung

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