Variant report

Variant	rs533260201
Chromosome Location	chr5:43523846-43523847
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:43505152..43507447-chr5:43523646..43525355,3	K562	blood:
2	chr5:43519862..43522291-chr5:43523744..43525301,2	K562	blood:
3	chr5:43523816..43525449-chr5:43531975..43533697,2	K562	blood:
4	chr5:43522870..43525437-chr5:43555378..43557066,3	MCF-7	breast:
5	chr5:43513728..43517093-chr5:43520765..43523947,5	K562	blood:
6	chr5:43522223..43525825-chr5:43531234..43533172,3	MCF-7	breast:
7	chr5:43519862..43522012-chr5:43522447..43525244,2	K562	blood:

Variant related genes	Relation type
ENSG00000248240	Chromatin interaction
ENSG00000172239	Chromatin interaction
ENSG00000172244	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	nsv881017	chr5:43444826-43731692	Weak transcription Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	222 gene(s)	inside rSNPs	diseases
2	nsv830275	chr5:43469511-43639384	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	220 gene(s)	inside rSNPs	diseases
3	esv1835057	chr5:43515280-43557405	Active TSS Flanking Active TSS Genic enhancers Strong transcription Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
4	esv1835614	chr5:43515280-43561759	Genic enhancers Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
5	esv1837000	chr5:43515280-43561759	Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
6	esv2386883	chr5:43523462-43523880	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:43515400-43524000	Weak transcription	Spleen	Spleen
2	chr5:43515600-43533800	Weak transcription	Small Intestine	intestine
3	chr5:43515600-43534000	Weak transcription	Esophagus	oesophagus
4	chr5:43515800-43525400	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr5:43515800-43525600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr5:43516000-43524000	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr5:43516000-43524000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr5:43516000-43524000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr5:43516000-43524000	Weak transcription	Aorta	Aorta
10	chr5:43516000-43525000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr5:43516000-43525200	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr5:43516000-43525200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr5:43516000-43525200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr5:43516000-43525200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr5:43516000-43525200	Weak transcription	Fetal Brain Male	brain
16	chr5:43516000-43525400	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr5:43516000-43525400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr5:43516000-43525400	Weak transcription	Rectal Smooth Muscle	rectum
19	chr5:43516000-43525600	Weak transcription	NHDF-Ad	bronchial
20	chr5:43516000-43527400	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr5:43516000-43528000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr5:43516000-43528200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr5:43516000-43529400	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr5:43516000-43533800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr5:43516000-43534000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr5:43516200-43524000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr5:43516200-43524000	Weak transcription	NH-A	brain
28	chr5:43516200-43524800	Weak transcription	A549	lung
29	chr5:43516200-43525000	Weak transcription	Primary B cells from peripheral blood	blood
30	chr5:43516200-43525000	Weak transcription	Brain Angular Gyrus	brain
31	chr5:43516200-43525000	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr5:43516200-43525000	Weak transcription	HUVEC	blood vessel
33	chr5:43516200-43525200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr5:43516200-43525200	Weak transcription	HMEC	breast
35	chr5:43516200-43525200	Weak transcription	HSMMtube	muscle
36	chr5:43516200-43525600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr5:43516200-43527600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr5:43516200-43528000	Weak transcription	Colonic Mucosa	Colon
39	chr5:43516200-43528200	Weak transcription	Brain Cingulate Gyrus	brain
40	chr5:43516200-43528200	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr5:43516200-43532800	Weak transcription	Fetal Heart	heart
42	chr5:43516200-43533600	Weak transcription	Brain Substantia Nigra	brain
43	chr5:43516200-43534200	Weak transcription	Stomach Mucosa	stomach
44	chr5:43516400-43524000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr5:43516400-43524000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr5:43516400-43524200	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr5:43516400-43524200	Weak transcription	HSMM	muscle
48	chr5:43516400-43525000	Weak transcription	Primary T cells fromperipheralblood	blood
49	chr5:43516400-43525000	Weak transcription	NHEK	skin
50	chr5:43516400-43525200	Weak transcription	Primary neutrophils fromperipheralblood	blood

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