Variant report

Variant	rs554504977
Chromosome Location	chr5:14403925-14403926
allele	-/GTG
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:31)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:31 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr5:14403052-14404213	GM12878	blood:	n/a	n/a
2	POLR2A	chr5:14403438-14404311	HepG2	liver:	n/a	n/a
3	TCF3	chr5:14403153-14404230	GM12878	blood:	n/a	n/a
4	POLR2A	chr5:14402519-14404431	GM12892	blood:	n/a	n/a
5	POU2F2	chr5:14403003-14404276	GM12878	blood:	n/a	n/a
6	ZBTB33	chr5:14403699-14403954	GM12878	blood:	n/a	n/a
7	POLR2A	chr5:14403170-14404232	GM12878	blood:	n/a	n/a
8	EBF1	chr5:14403666-14404256	GM12878	blood:	n/a	n/a
9	PAX5	chr5:14403633-14404114	GM12878	blood:	n/a	n/a
10	POLR2A	chr5:14402871-14404082	GM12892	blood:	n/a	n/a
11	PAX5	chr5:14403166-14404310	GM12878	blood:	n/a	n/a
12	POU2F2	chr5:14403030-14404171	GM12891	blood:	n/a	n/a
13	POLR2A	chr5:14402564-14404330	GM12878	blood:	n/a	n/a
14	IRF4	chr5:14403513-14404152	GM12878	blood:	n/a	n/a
15	POLR2A	chr5:14402597-14404326	GM12892	blood:	n/a	n/a
16	POLR2A	chr5:14403152-14404202	GM12891	blood:	n/a	n/a
17	POLR2A	chr5:14403461-14404076	A549	lung:	n/a	n/a
18	PAX5	chr5:14403663-14404022	GM12878	blood:	n/a	n/a
19	TCF12	chr5:14403616-14404090	GM12878	blood:	n/a	n/a
20	TAF1	chr5:14403622-14404113	HepG2	liver:	n/a	n/a
21	ZBTB33	chr5:14403705-14404081	GM12878	blood:	n/a	n/a
22	POLR2A	chr5:14402387-14404335	PANC-1	pancreas:	n/a	n/a
23	MYC	chr5:14403589-14403961	MCF-7	breast:	n/a	n/a
24	POLR2A	chr5:14402710-14404261	GM12892	blood:	n/a	n/a
25	CTCF	chr5:14403867-14404024	GM19239	blood:	n/a	n/a
26	POLR2A	chr5:14403038-14404229	H1-hESC	embryonic stem cell:	n/a	n/a
27	POLR2A	chr5:14403629-14403993	H1-hESC	embryonic stem cell:	n/a	n/a
28	EBF1	chr5:14403659-14404106	GM12878	blood:	n/a	n/a
29	POLR2A	chr5:14403145-14404216	Hela-S3	cervix:	n/a	n/a
30	TCF12	chr5:14403205-14404207	GM12878	blood:	n/a	n/a
31	REST	chr5:14403704-14404147	HepG2	liver:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:14399431..14402316-chr5:14403363..14405249,2	K562	blood:

No data

Variant related genes	Relation type
TRIO	TF binding region

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026914	chr5:14237782-14751588	Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv830210	chr5:14255039-14431552	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv1018187	chr5:14385164-15127103	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	esv3401381	chr5:14402002-14404800	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	esv14037	chr5:14403047-14404719	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv597238	chr5:14403173-14404091	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv597239	chr5:14403173-14404198	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	esv3347123	chr5:14403425-14404197	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	esv3510001	chr5:14403553-14404252	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	esv3509999	chr5:14403553-14404268	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	esv3510000	chr5:14403604-14404252	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14357600-14422000	Weak transcription	Stomach Mucosa	stomach
2	chr5:14363800-14430600	Strong transcription	Primary monocytes fromperipheralblood	blood
3	chr5:14363800-14430600	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr5:14387200-14405800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr5:14388800-14407200	Weak transcription	Small Intestine	intestine
6	chr5:14392200-14406600	Weak transcription	Primary T cells from cord blood	blood
7	chr5:14392400-14406000	Weak transcription	Fetal Heart	heart
8	chr5:14392400-14426800	Weak transcription	Psoas Muscle	Psoas
9	chr5:14393600-14413600	Strong transcription	Primary B cells from cord blood	blood
10	chr5:14394400-14405200	Strong transcription	Fetal Intestine Small	intestine
11	chr5:14395200-14406600	Weak transcription	Fetal Kidney	kidney
12	chr5:14395800-14406000	Weak transcription	Brain Cingulate Gyrus	brain
13	chr5:14395800-14406000	Weak transcription	Brain Substantia Nigra	brain
14	chr5:14397400-14405400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr5:14397600-14405200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr5:14397600-14405600	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr5:14397600-14406200	Weak transcription	Brain Hippocampus Middle	brain
18	chr5:14398200-14406000	Weak transcription	Thymus	Thymus
19	chr5:14398400-14404800	Weak transcription	Ovary	ovary
20	chr5:14398400-14406000	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr5:14398600-14405200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr5:14398600-14405200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr5:14398600-14406000	Weak transcription	Esophagus	oesophagus
24	chr5:14398800-14406200	Weak transcription	Aorta	Aorta
25	chr5:14399000-14419800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
26	chr5:14399600-14416400	Strong transcription	Duodenum Mucosa	Duodenum
27	chr5:14400200-14413400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr5:14400400-14405400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr5:14400400-14406600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr5:14400600-14415000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr5:14400800-14408600	Strong transcription	Sigmoid Colon	Sigmoid Colon
32	chr5:14400800-14416000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr5:14401000-14404800	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr5:14401000-14405400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr5:14401000-14406600	Weak transcription	Left Ventricle	heart
36	chr5:14401200-14405200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr5:14401200-14405400	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr5:14401200-14406200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr5:14401200-14407400	Weak transcription	Primary hematopoietic stem cells	blood
40	chr5:14401400-14405800	Weak transcription	Rectal Smooth Muscle	rectum
41	chr5:14401400-14406200	Weak transcription	Colon Smooth Muscle	Colon
42	chr5:14401400-14406600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr5:14401600-14406000	Weak transcription	Colonic Mucosa	Colon
44	chr5:14401600-14407400	Strong transcription	Fetal Muscle Leg	muscle
45	chr5:14401800-14404800	Weak transcription	Fetal Brain Female	brain
46	chr5:14401800-14405800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr5:14401800-14407200	Weak transcription	Fetal Brain Male	brain
48	chr5:14402000-14404200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr5:14402000-14404800	Weak transcription	HUVEC	blood vessel
50	chr5:14402000-14406000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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