Variant report

Variant	rs539768702
Chromosome Location	chr14:31599157-31599158
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	POLR2A	chr14:31599110-31599167	MCF-7	breast:	n/a	n/a
2	MAFK	chr14:31599143-31599343	HepG2	liver:	n/a	n/a
3	MAFK	chr14:31599141-31599407	HepG2	liver:	n/a	n/a
4	GATA3	chr14:31599122-31599286	SH-SY5Y	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:31592178..31594075-chr14:31598650..31601042,2	K562	blood:

Variant related genes	Relation type
HECTD1	TF binding region
ENSG00000092148	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 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
8	esv3345810	chr14:31599017-31622767	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 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	chr14:31565600-31648000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr14:31566000-31599200	Strong transcription	Fetal Muscle Trunk	muscle
5	chr14:31566000-31627400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr14:31566200-31599200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr14:31566200-31627000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr14:31566200-31635200	Strong transcription	Placenta	Placenta
9	chr14:31566200-31648200	Strong transcription	Primary neutrophils fromperipheralblood	blood
10	chr14:31567000-31620200	Strong transcription	Duodenum Smooth Muscle	Duodenum
11	chr14:31567000-31647600	Strong transcription	Duodenum Mucosa	Duodenum
12	chr14:31567000-31651200	Strong transcription	Dnd41	blood
13	chr14:31572800-31604600	Strong transcription	Fetal Intestine Large	intestine
14	chr14:31573000-31650200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr14:31573600-31608800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr14:31573800-31648200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr14:31576800-31623800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr14:31577200-31604000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr14:31588000-31623800	Weak transcription	Psoas Muscle	Psoas
20	chr14:31588600-31607600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr14:31591800-31656400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr14:31592400-31600000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr14:31592400-31607200	Weak transcription	Fetal Heart	heart
24	chr14:31593400-31600600	Strong transcription	Fetal Muscle Leg	muscle
25	chr14:31593600-31604600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr14:31593800-31599400	Strong transcription	Fetal Stomach	stomach
27	chr14:31593800-31648200	Strong transcription	HUES64 Cell Line	embryonic stem cell
28	chr14:31594000-31599200	Strong transcription	Fetal Intestine Small	intestine
29	chr14:31594200-31599200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr14:31594200-31599400	Strong transcription	Cortex derived primary cultured neurospheres	brain
31	chr14:31594400-31628600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr14:31594600-31599200	Strong transcription	Stomach Smooth Muscle	stomach
33	chr14:31594600-31604400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr14:31594600-31619800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
35	chr14:31595000-31649000	Strong transcription	HUES48 Cell Line	embryonic stem cell
36	chr14:31595200-31602800	Strong transcription	Fetal Kidney	kidney
37	chr14:31595200-31605800	Strong transcription	HMEC	breast
38	chr14:31595200-31630200	Strong transcription	HUES6 Cell Line	embryonic stem cell
39	chr14:31595400-31599200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr14:31595600-31599200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr14:31595600-31599400	Strong transcription	Left Ventricle	heart
42	chr14:31595800-31599200	Strong transcription	Osteobl	bone
43	chr14:31595800-31599400	Strong transcription	Brain Hippocampus Middle	brain
44	chr14:31595800-31600000	Strong transcription	NHEK	skin
45	chr14:31595800-31600800	Strong transcription	HUVEC	blood vessel
46	chr14:31595800-31610000	Strong transcription	Fetal Thymus	thymus
47	chr14:31596600-31606600	Strong transcription	Hela-S3	cervix
48	chr14:31596800-31606000	Strong transcription	HSMM	muscle
49	chr14:31597000-31599200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr14:31597000-31599200	Strong transcription	Fetal Brain Female	brain

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