Variant report

Variant	rs551624048
Chromosome Location	chr5:96079150-96079151
allele	A/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	chr5:96079045-96079430	K562	blood:	n/a	n/a
2	CEBPB	chr5:96079077-96079418	IMR90	lung:	n/a	n/a
3	CEBPB	chr5:96079108-96079612	Hela-S3	cervix:	n/a	n/a
4	JUND	chr5:96079092-96079411	H1-hESC	embryonic stem cell:	n/a	chr5:96079255-96079266 chr5:96079256-96079266 chr5:96079257-96079265 chr5:96079257-96079265 chr5:96079256-96079266 chr5:96079258-96079265 chr5:96079256-96079266 chr5:96079256-96079266
5	GABPA	chr5:96079055-96079435	K562	blood:	n/a	n/a
6	MAZ	chr5:96079031-96079474	IMR90	lung:	n/a	n/a
7	POLR2A	chr5:96079008-96079509	K562	blood:	n/a	n/a
8	UBTF	chr5:96079137-96079524	K562	blood:	n/a	n/a
9	MAZ	chr5:96079068-96079671	K562	blood:	n/a	n/a
10	EP300	chr5:96079073-96079410	K562	blood:	n/a	chr5:96079243-96079257 chr5:96079256-96079265 chr5:96079247-96079256
11	ARID3A	chr5:96078951-96079157	K562	blood:	n/a	n/a
12	REST	chr5:96079116-96079428	K562	blood:	n/a	n/a
13	POLR2A	chr5:96079094-96079368	HUVEC	blood vessel:	n/a	n/a
14	FOS	chr5:96079087-96079429	MCF10A-Er-Src	breast:	n/a	chr5:96079256-96079266 chr5:96079257-96079265 chr5:96079257-96079265 chr5:96079256-96079266 chr5:96079258-96079265 chr5:96079256-96079266 chr5:96079255-96079266 chr5:96079256-96079266
15	JUN	chr5:96079083-96079426	K562	blood:	n/a	chr5:96079256-96079266 chr5:96079257-96079265 chr5:96079257-96079265 chr5:96079256-96079266 chr5:96079258-96079265 chr5:96079256-96079266 chr5:96079256-96079266
16	ATF3	chr5:96079051-96079419	K562	blood:	n/a	n/a
17	TBL1XR1	chr5:96079081-96079522	K562	blood:	n/a	n/a
18	JUN	chr5:96079086-96079441	HUVEC	blood vessel:	n/a	chr5:96079256-96079266 chr5:96079257-96079265 chr5:96079257-96079265 chr5:96079256-96079266 chr5:96079258-96079265 chr5:96079256-96079266 chr5:96079256-96079266
19	MAFF	chr5:96078502-96079331	K562	blood:	n/a	n/a
20	CEBPB	chr5:96079079-96079622	K562	blood:	n/a	n/a
21	FOXP2	chr5:96079106-96079360	PFSK-1	brain:	n/a	n/a
22	ATF3	chr5:96079087-96079376	K562	blood:	n/a	n/a
23	GATA2	chr5:96079117-96079404	HUVEC	blood vessel:	n/a	chr5:96079245-96079255
24	SPI1	chr5:96079110-96079378	K562	blood:	n/a	chr5:96079247-96079256 chr5:96079243-96079252 chr5:96079245-96079258
25	CBX3	chr5:96079056-96079809	K562	blood:	n/a	n/a
26	YY1	chr5:96079043-96079428	K562	blood:	n/a	n/a
27	JUN	chr5:96077053-96080143	K562	blood:	n/a	chr5:96079256-96079266 chr5:96079257-96079265 chr5:96079257-96079265 chr5:96079256-96079266 chr5:96079258-96079265 chr5:96079256-96079266 chr5:96077858-96077866 chr5:96079256-96079266
28	RCOR1	chr5:96079009-96079625	K562	blood:	n/a	n/a
29	JUND	chr5:96079047-96079758	K562	blood:	n/a	chr5:96079255-96079266 chr5:96079256-96079266 chr5:96079257-96079265 chr5:96079257-96079265 chr5:96079256-96079266 chr5:96079258-96079265 chr5:96079256-96079266 chr5:96079256-96079266
30	ZMIZ1	chr5:96079075-96079411	K562	blood:	n/a	n/a
31	TAF1	chr5:96079094-96079433	K562	blood:	n/a	n/a
32	MXI1	chr5:96079104-96079420	K562	blood:	n/a	n/a
33	JUN	chr5:96079090-96079507	K562	blood:	n/a	chr5:96079256-96079266 chr5:96079257-96079265 chr5:96079257-96079265 chr5:96079256-96079266 chr5:96079258-96079265 chr5:96079256-96079266 chr5:96079256-96079266
34	FOS	chr5:96079096-96079428	MCF10A-Er-Src	breast:	n/a	chr5:96079256-96079266 chr5:96079257-96079265 chr5:96079257-96079265 chr5:96079256-96079266 chr5:96079258-96079265 chr5:96079256-96079266 chr5:96079255-96079266 chr5:96079256-96079266
35	ELF1	chr5:96079107-96079313	K562	blood:	n/a	chr5:96079245-96079258 chr5:96079247-96079258
36	POLR2A	chr5:96079041-96079451	K562	blood:	n/a	n/a
37	FOS	chr5:96079021-96079450	HUVEC	blood vessel:	n/a	chr5:96079256-96079266 chr5:96079257-96079265 chr5:96079257-96079265 chr5:96079256-96079266 chr5:96079258-96079265 chr5:96079256-96079266 chr5:96079255-96079266 chr5:96079256-96079266
38	ELF1	chr5:96079036-96079444	K562	blood:	n/a	chr5:96079245-96079258 chr5:96079247-96079258
39	ZNF143	chr5:96079145-96079523	K562	blood:	n/a	n/a
40	CHD2	chr5:96079145-96079318	K562	blood:	n/a	n/a
41	CHD2	chr5:96079083-96079306	Hela-S3	cervix:	n/a	n/a
42	SPI1	chr5:96079141-96079328	K562	blood:	n/a	chr5:96079247-96079256 chr5:96079243-96079252 chr5:96079245-96079258
43	MAX	chr5:96079044-96079413	K562	blood:	n/a	n/a
44	POLR2A	chr5:96077309-96080574	PBDE	blood:	n/a	n/a
45	MYC	chr5:96079123-96079669	K562	blood:	n/a	n/a
46	FOS	chr5:96079127-96079396	MCF10A-Er-Src	breast:	n/a	chr5:96079256-96079266 chr5:96079257-96079265 chr5:96079257-96079265 chr5:96079256-96079266 chr5:96079258-96079265 chr5:96079256-96079266 chr5:96079255-96079266 chr5:96079256-96079266
47	SIN3A	chr5:96079074-96079343	H1-hESC	embryonic stem cell:	n/a	n/a
48	POLR2A	chr5:96079100-96079383	Hela-S3	cervix:	n/a	n/a
49	ATF1	chr5:96079124-96079685	K562	blood:	n/a	n/a
50	FOSL1	chr5:96079092-96079408	K562	blood:	n/a	chr5:96079256-96079266 chr5:96079255-96079266 chr5:96079257-96079265 chr5:96079257-96079265 chr5:96079256-96079266 chr5:96079258-96079265 chr5:96079256-96079266 chr5:96079256-96079266

No.	Distal block	Cell Line	Cell type
1	chr5:96070439..96072973-chr5:96078050..96080855,3	K562	blood:
2	chr5:96034750..96038584-chr5:96076223..96079664,4	K562	blood:
3	chr5:96035534..96040371-chr5:96075768..96079687,8	K562	blood:
4	chr5:96076665..96080894-chr5:96142161..96145119,4	K562	blood:
5	chr5:96078034..96080894-chr5:96142161..96145119,2	K562	blood:

Variant related genes	Relation type
CAST	TF binding region
ENSG00000249180	TF binding region
ENSG00000153113	Chromatin interaction
ENSG00000164307	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1015173	chr5:95987366-96153392	Genic enhancers Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
2	nsv432755	chr5:95987984-96657483	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
3	nsv830411	chr5:96045168-96187817	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv598962	chr5:96057891-96893164	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
5	nsv516293	chr5:96070205-96216387	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	nsv948703	chr5:96078309-96368839	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:96057800-96098600	Weak transcription	Fetal Brain Male	brain
2	chr5:96062800-96081400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr5:96063000-96126200	Weak transcription	Brain Germinal Matrix	brain
4	chr5:96064600-96092600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr5:96066800-96079400	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr5:96068200-96095400	Strong transcription	Primary T cells fromperipheralblood	blood
7	chr5:96068200-96100400	Strong transcription	Liver	Liver
8	chr5:96068400-96138200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr5:96068600-96130000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr5:96069400-96094000	Strong transcription	Fetal Muscle Leg	muscle
11	chr5:96069600-96094000	Strong transcription	Sigmoid Colon	Sigmoid Colon
12	chr5:96070200-96083400	Strong transcription	Duodenum Mucosa	Duodenum
13	chr5:96070200-96087800	Strong transcription	Primary T helper cells fromperipheralblood	blood
14	chr5:96070200-96116400	Strong transcription	Rectal Mucosa Donor 29	rectum
15	chr5:96070600-96079200	Strong transcription	Placenta	Placenta
16	chr5:96070800-96095400	Strong transcription	Primary B cells from peripheral blood	blood
17	chr5:96071000-96112800	Strong transcription	Hela-S3	cervix
18	chr5:96071200-96085000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr5:96071200-96088000	Strong transcription	A549	lung
20	chr5:96071200-96094000	Strong transcription	HSMM	muscle
21	chr5:96071400-96113000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr5:96071400-96126600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr5:96071600-96103200	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr5:96071800-96083400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr5:96071800-96084200	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr5:96072000-96079200	Strong transcription	Adipose Nuclei	Adipose
27	chr5:96072400-96086400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
28	chr5:96072400-96088400	Strong transcription	Primary T helper cells PMA-I stimulated	--
29	chr5:96072600-96079200	Strong transcription	Skeletal Muscle Female	skeletal muscle
30	chr5:96072600-96081400	Strong transcription	Pancreas	Pancrea
31	chr5:96072600-96115600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr5:96072800-96079200	Strong transcription	NH-A	brain
33	chr5:96072800-96083600	Strong transcription	Brain Anterior Caudate	brain
34	chr5:96072800-96086400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr5:96072800-96087800	Strong transcription	NHLF	lung
36	chr5:96072800-96094600	Strong transcription	Fetal Muscle Trunk	muscle
37	chr5:96072800-96095200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr5:96072800-96095200	Strong transcription	Muscle Satellite Cultured Cells	--
39	chr5:96073000-96080600	Strong transcription	Primary T helper naive cells from peripheral blood	blood
40	chr5:96073200-96083200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr5:96073200-96086600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr5:96073400-96087600	Strong transcription	Ovary	ovary
43	chr5:96073400-96088000	Strong transcription	Fetal Lung	lung
44	chr5:96073400-96115600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr5:96073600-96080000	Strong transcription	Brain Angular Gyrus	brain
46	chr5:96073600-96080800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr5:96073600-96081200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr5:96073600-96082200	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
49	chr5:96073600-96082800	Strong transcription	Esophagus	oesophagus
50	chr5:96073600-96087200	Strong transcription	Skeletal Muscle Male	skeletal muscle

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