Variant report

Variant	rs2145146
Chromosome Location	chr14:38068148-38068149
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:38068070-38068463	MCF-7	breast:	n/a	n/a
2	POLR2A	chr14:38067887-38068651	HepG2	liver:	n/a	n/a
3	CTCF	chr14:38068040-38068190	HCM	heart:	n/a	n/a
4	SUZ12	chr14:38066159-38069589	NT2-D1	testis:	n/a	n/a
5	SUZ12	chr14:38066939-38069700	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:38064575..38066712-chr14:38067823..38069498,2	K562	blood:
2	chr14:38065961..38068630-chr14:38077390..38079134,2	K562	blood:
3	chr14:37708906..37733371-chr14:38048131..38068843,170	MCF-7	breast:
4	chr14:38066724..38068899-chr14:38073315..38075448,2	K562	blood:
5	chr14:38066762..38068262-chr17:59431562..59433870,3	MCF-7	breast:
6	chr14:38064570..38066790-chr14:38067298..38069207,2	K562	blood:

No data

Variant related genes	Relation type
FOXA1	TF binding region
ENSG00000151338	Chromatin interaction
ENSG00000139865	Chromatin interaction
ENSG00000129514	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs12894364	0.85[CEU][hapmap];0.83[CHD][hapmap];0.92[GIH][hapmap];0.85[TSI][hapmap];0.82[EUR][1000 genomes]
rs17106794	1.00[ASW][hapmap]
rs1884801	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530038	chr14:37590543-38336191	Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv826923	chr14:38017619-38108645	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
3	nsv832772	chr14:38030300-38225921	Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
4	nsv901642	chr14:38041870-38081005	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
5	nsv901643	chr14:38047789-38081005	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription 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
6	nsv901646	chr14:38051035-38081005	Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
7	nsv916985	chr14:38052347-38838551	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	59 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:38065000-38069600	Bivalent/Poised TSS	Primary T cells from cord blood	blood
2	chr14:38065800-38068800	Bivalent Enhancer	HMEC	breast
3	chr14:38066000-38068600	Enhancers	Liver	Liver
4	chr14:38066600-38068800	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
5	chr14:38066600-38070000	Weak transcription	A549	lung
6	chr14:38066800-38068800	Bivalent Enhancer	Fetal Muscle Leg	muscle
7	chr14:38066800-38069600	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
8	chr14:38067000-38068400	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
9	chr14:38067000-38068600	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
10	chr14:38067000-38069200	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
11	chr14:38067000-38069200	Strong transcription	HepG2	liver
12	chr14:38067000-38069400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
13	chr14:38067000-38069400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
14	chr14:38067000-38069400	Bivalent Enhancer	Brain Substantia Nigra	brain
15	chr14:38067000-38069400	Bivalent Enhancer	Colon Smooth Muscle	Colon
16	chr14:38067000-38069400	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
17	chr14:38067000-38069600	Enhancers	Pancreas	Pancrea
18	chr14:38067200-38068600	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
19	chr14:38067200-38069200	Bivalent Enhancer	Fetal Brain Male	brain
20	chr14:38067200-38069400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
21	chr14:38067200-38069400	Bivalent Enhancer	Brain Anterior Caudate	brain
22	chr14:38067200-38069600	Active TSS	Gastric	stomach
23	chr14:38067400-38068200	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr14:38067400-38068200	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr14:38067400-38068200	Bivalent/Poised TSS	Fetal Intestine Large	intestine
26	chr14:38067400-38068400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr14:38067400-38068400	Flanking Active TSS	Lung	lung
28	chr14:38067400-38068600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
29	chr14:38067400-38068800	Bivalent/Poised TSS	Sigmoid Colon	Sigmoid Colon
30	chr14:38067400-38068800	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
31	chr14:38067400-38069200	Bivalent/Poised TSS	Fetal Intestine Small	intestine
32	chr14:38067400-38069200	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
33	chr14:38067400-38069200	Bivalent/Poised TSS	Small Intestine	intestine
34	chr14:38067400-38069400	ZNF genes & repeats	Spleen	Spleen
35	chr14:38067600-38068200	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
36	chr14:38067600-38068200	Bivalent Enhancer	Primary hematopoietic stem cells	blood
37	chr14:38067600-38068200	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
38	chr14:38067600-38068800	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
39	chr14:38067600-38068800	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
40	chr14:38067600-38069000	Bivalent Enhancer	Placenta	Placenta
41	chr14:38067600-38069000	Bivalent Enhancer	Fetal Thymus	thymus
42	chr14:38067600-38069200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
43	chr14:38067800-38068200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr14:38067800-38068200	Bivalent Enhancer	Stomach Smooth Muscle	stomach
45	chr14:38067800-38068400	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
46	chr14:38067800-38068800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr14:38067800-38068800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr14:38067800-38068800	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
49	chr14:38067800-38069000	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
50	chr14:38067800-38069400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland

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