Variant report

Variant	rs11846399
Chromosome Location	chr14:37133470-37133471
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	SUZ12	chr14:37131119-37134255	NT2-D1	testis:	n/a	n/a
2	MYC	chr14:37133249-37133492	MCF10A-Er-Src	breast:	n/a	n/a
3	ZNF263	chr14:37130816-37133564	HEK293-T-REx	kidney:	n/a	chr14:37131161-37131170
4	SUZ12	chr14:37131084-37133709	H1-hESC	embryonic stem cell:	n/a	n/a
5	CTBP2	chr14:37129970-37133601	H1-hESC	embryonic stem cell:	n/a	n/a
6	STAT3	chr14:37133286-37133486	MCF10A-Er-Src	breast:	n/a	n/a
7	POLR2A	chr14:37133019-37133505	H1-neurons	neurons:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:37131975..37134895-chr14:37181236..37183653,2	MCF-7	breast:

Variant related genes	Relation type
PAX9	TF binding region

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs17091922	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17104892	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17104893	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17104902	0.90[AFR][1000 genomes];1.00[AMR][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:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:37130000-37133800	Bivalent Enhancer	Liver	Liver
2	chr14:37130400-37133600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
3	chr14:37130400-37133600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr14:37130600-37133600	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr14:37130600-37133600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr14:37130600-37133600	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
7	chr14:37130600-37133600	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
8	chr14:37130600-37133800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
9	chr14:37131000-37135600	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
10	chr14:37131000-37137200	Bivalent/Poised TSS	Thymus	Thymus
11	chr14:37131200-37133600	Bivalent Enhancer	Fetal Lung	lung
12	chr14:37131200-37134000	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
13	chr14:37131400-37133600	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
14	chr14:37131400-37133800	Transcr. at gene 5' and 3'	Esophagus	oesophagus
15	chr14:37131600-37133600	Bivalent Enhancer	Fetal Intestine Small	intestine
16	chr14:37131600-37133600	Enhancers	Pancreas	Pancrea
17	chr14:37131600-37136600	Bivalent/Poised TSS	Fetal Thymus	thymus
18	chr14:37131800-37133600	Bivalent Enhancer	Fetal Stomach	stomach
19	chr14:37132000-37133600	Bivalent Enhancer	Stomach Mucosa	stomach
20	chr14:37132200-37155200	Weak transcription	K562	blood
21	chr14:37132400-37133600	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
22	chr14:37132400-37133600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
23	chr14:37132400-37133600	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
24	chr14:37132400-37133800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
25	chr14:37132600-37133600	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr14:37132800-37133600	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
27	chr14:37132800-37133600	Bivalent Enhancer	Brain Cingulate Gyrus	brain
28	chr14:37132800-37133600	Bivalent Enhancer	Duodenum Mucosa	Duodenum
29	chr14:37133000-37133600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr14:37133000-37133600	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
31	chr14:37133000-37133600	Bivalent Enhancer	Fetal Heart	heart
32	chr14:37133000-37133600	Bivalent/Poised TSS	Osteobl	bone
33	chr14:37133000-37134800	Active TSS	Muscle Satellite Cultured Cells	--
34	chr14:37133200-37133600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
35	chr14:37133200-37133600	Flanking Bivalent TSS/Enh	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr14:37133200-37133600	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr14:37133200-37133600	Flanking Bivalent TSS/Enh	Brain Angular Gyrus	brain
38	chr14:37133200-37133600	Flanking Bivalent TSS/Enh	Brain Inferior Temporal Lobe	brain
39	chr14:37133200-37133600	Flanking Bivalent TSS/Enh	Brain Dorsolateral Prefrontal Cortex	brain
40	chr14:37133200-37133800	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
41	chr14:37133400-37133600	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
42	chr14:37133400-37133600	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
43	chr14:37133400-37133600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
44	chr14:37133400-37133600	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr14:37133400-37133600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr14:37133400-37133600	Bivalent Enhancer	Brain Substantia Nigra	brain
47	chr14:37133400-37133600	Bivalent Enhancer	Colon Smooth Muscle	Colon
48	chr14:37133400-37133600	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
49	chr14:37133400-37133600	Flanking Bivalent TSS/Enh	Rectal Smooth Muscle	rectum
50	chr14:37133400-37133600	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle

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