Variant report

Variant	rs566020041
Chromosome Location	chr5:96078514-96078515
allele	A/C
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	IRF1	chr5:96078425-96078953	K562	blood:	n/a	chr5:96078761-96078778
2	HCFC1	chr5:96078432-96078662	K562	blood:	n/a	n/a
3	SPI1	chr5:96078316-96078563	K562	blood:	n/a	n/a
4	POLR2A	chr5:96078355-96078555	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr5:96078349-96078617	K562	blood:	n/a	n/a
6	SPI1	chr5:96078071-96078624	HL-60	blood:	n/a	n/a
7	MAFF	chr5:96078502-96079331	K562	blood:	n/a	n/a
8	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
9	RCOR1	chr5:96077469-96078593	K562	blood:	n/a	n/a
10	POLR2A	chr5:96077309-96080574	PBDE	blood:	n/a	n/a
11	JUND	chr5:96077608-96078604	K562	blood:	n/a	chr5:96077858-96077866

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	chr5:96076844..96078562-chr5:96116858..96119670,2	K562	blood:
6	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:124 , 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	chr5:96071200-96078600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr5:96071200-96085000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr5:96071200-96088000	Strong transcription	A549	lung
21	chr5:96071200-96094000	Strong transcription	HSMM	muscle
22	chr5:96071400-96078600	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr5:96071400-96078600	Weak transcription	Right Atrium	heart
24	chr5:96071400-96113000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr5:96071400-96126600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr5:96071600-96103200	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr5:96071800-96083400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr5:96071800-96084200	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr5:96072000-96079200	Strong transcription	Adipose Nuclei	Adipose
30	chr5:96072200-96079000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr5:96072400-96078600	Strong transcription	Osteobl	bone
32	chr5:96072400-96086400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
33	chr5:96072400-96088400	Strong transcription	Primary T helper cells PMA-I stimulated	--
34	chr5:96072600-96079000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr5:96072600-96079200	Strong transcription	Skeletal Muscle Female	skeletal muscle
36	chr5:96072600-96081400	Strong transcription	Pancreas	Pancrea
37	chr5:96072600-96115600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr5:96072800-96079200	Strong transcription	NH-A	brain
39	chr5:96072800-96083600	Strong transcription	Brain Anterior Caudate	brain
40	chr5:96072800-96086400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr5:96072800-96087800	Strong transcription	NHLF	lung
42	chr5:96072800-96094600	Strong transcription	Fetal Muscle Trunk	muscle
43	chr5:96072800-96095200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr5:96072800-96095200	Strong transcription	Muscle Satellite Cultured Cells	--
45	chr5:96073000-96078600	Strong transcription	HUVEC	blood vessel
46	chr5:96073000-96079000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr5:96073000-96079000	Strong transcription	HMEC	breast
48	chr5:96073000-96079000	Strong transcription	NHEK	skin
49	chr5:96073000-96080600	Strong transcription	Primary T helper naive cells from peripheral blood	blood
50	chr5:96073200-96078800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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