Variant report

Variant	rs7157007
Chromosome Location	chr14:31597685-31597686
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	POLR2A	chr14:31596930-31598843	HepG2	liver:	n/a	n/a
2	POLR2A	chr14:31597621-31598006	HepG2	liver:	n/a	n/a
3	FOXA2	chr14:31596611-31598026	HepG2	liver:	n/a	n/a
4	EP300	chr14:31597657-31597795	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
HECTD1	TF binding region

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11623425	1.00[YRI][hapmap]
rs1951730	1.00[AFR][1000 genomes]
rs2031438	1.00[AFR][1000 genomes]
rs2057431	1.00[AFR][1000 genomes]
rs2378832	1.00[AFR][1000 genomes]
rs442145	1.00[YRI][hapmap]
rs4981837	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs6420816	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs7156647	1.00[YRI][hapmap]
rs7160718	1.00[YRI][hapmap]
rs8017902	1.00[YRI][hapmap];1.00[AFR][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	nsv1048736	chr14:31447842-31624912	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv1049063	chr14:31473521-31622741	Weak transcription Strong transcription Active TSS Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv901587	chr14:31501505-31752664	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv832763	chr14:31501597-31680021	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
5	nsv1050054	chr14:31501703-31733642	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv1043033	chr14:31538984-31686696	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
7	nsv901588	chr14:31595666-31639111	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31563800-31650000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
2	chr14:31564800-31648600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
3	chr14:31565400-31599000	Strong transcription	Adipose Nuclei	Adipose
4	chr14:31565600-31598000	Strong transcription	Liver	Liver
5	chr14:31565600-31648000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr14:31566000-31599200	Strong transcription	Fetal Muscle Trunk	muscle
7	chr14:31566000-31627400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr14:31566200-31599200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr14:31566200-31627000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr14:31566200-31635200	Strong transcription	Placenta	Placenta
11	chr14:31566200-31648200	Strong transcription	Primary neutrophils fromperipheralblood	blood
12	chr14:31566400-31597800	Strong transcription	Primary B cells from peripheral blood	blood
13	chr14:31566400-31597800	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr14:31567000-31620200	Strong transcription	Duodenum Smooth Muscle	Duodenum
15	chr14:31567000-31647600	Strong transcription	Duodenum Mucosa	Duodenum
16	chr14:31567000-31651200	Strong transcription	Dnd41	blood
17	chr14:31568200-31598600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr14:31572800-31604600	Strong transcription	Fetal Intestine Large	intestine
19	chr14:31573000-31650200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr14:31573600-31608800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr14:31573800-31648200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr14:31575400-31598800	Strong transcription	Fetal Lung	lung
23	chr14:31576800-31623800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr14:31577200-31604000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr14:31577400-31598800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr14:31580200-31597800	Strong transcription	Primary monocytes fromperipheralblood	blood
27	chr14:31587000-31598800	Strong transcription	NHDF-Ad	bronchial
28	chr14:31588000-31623800	Weak transcription	Psoas Muscle	Psoas
29	chr14:31588600-31607600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr14:31591800-31597800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr14:31591800-31597800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr14:31591800-31598200	Weak transcription	Small Intestine	intestine
33	chr14:31591800-31656400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr14:31592400-31597800	Weak transcription	Colonic Mucosa	Colon
35	chr14:31592400-31597800	Weak transcription	Colon Smooth Muscle	Colon
36	chr14:31592400-31597800	Weak transcription	Right Ventricle	heart
37	chr14:31592400-31600000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr14:31592400-31607200	Weak transcription	Fetal Heart	heart
39	chr14:31593400-31600600	Strong transcription	Fetal Muscle Leg	muscle
40	chr14:31593600-31604600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr14:31593800-31598000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr14:31593800-31599400	Strong transcription	Fetal Stomach	stomach
43	chr14:31593800-31648200	Strong transcription	HUES64 Cell Line	embryonic stem cell
44	chr14:31594000-31599200	Strong transcription	Fetal Intestine Small	intestine
45	chr14:31594200-31597800	Strong transcription	Sigmoid Colon	Sigmoid Colon
46	chr14:31594200-31598800	Strong transcription	Lung	lung
47	chr14:31594200-31599200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr14:31594200-31599400	Strong transcription	Cortex derived primary cultured neurospheres	brain
49	chr14:31594400-31628600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr14:31594600-31599200	Strong transcription	Stomach Smooth Muscle	stomach

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