Variant report

Variant	rs534921211
Chromosome Location	chr5:61730901-61730902
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:61697301..61700669-chr5:61729156..61732578,4	K562	blood:
2	chr5:61730501..61733292-chr5:61772580..61775158,2	K562	blood:

Variant related genes	Relation type
ENSG00000086200	Chromatin interaction
ENSG00000086189	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024090	chr5:61258759-61921150	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	esv2759345	chr5:61403138-61748912	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv1020255	chr5:61451792-62031365	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers 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	35 gene(s)	inside rSNPs	diseases
4	nsv1027539	chr5:61457762-62000008	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	nsv1033578	chr5:61606610-61911153	Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
6	nsv1025145	chr5:61624735-61824265	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
7	nsv1029708	chr5:61625813-61877628	Bivalent/Poised TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
8	nsv881728	chr5:61630879-61857577	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
9	esv2757117	chr5:61649403-61748912	Weak transcription Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
10	nsv598348	chr5:61650843-61895124	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
11	esv35035	chr5:61657943-61792243	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
12	nsv881729	chr5:61719506-61857577	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
13	esv3429316	chr5:61730145-61732043	Weak transcription Active TSS Enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:61709200-61770800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:61709400-61763400	Weak transcription	Aorta	Aorta
3	chr5:61709600-61738800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr5:61709600-61738800	Weak transcription	Fetal Muscle Trunk	muscle
5	chr5:61709600-61739800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr5:61709600-61744000	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr5:61709800-61738800	Weak transcription	Fetal Kidney	kidney
8	chr5:61709800-61743800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr5:61709800-61746000	Weak transcription	Primary hematopoietic stem cells	blood
10	chr5:61709800-61746600	Weak transcription	Fetal Thymus	thymus
11	chr5:61709800-61769000	Weak transcription	NH-A	brain
12	chr5:61709800-61809200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr5:61710000-61734200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr5:61710000-61734200	Weak transcription	Fetal Intestine Small	intestine
15	chr5:61710000-61737400	Weak transcription	Fetal Intestine Large	intestine
16	chr5:61710000-61739000	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr5:61710000-61746000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr5:61710200-61733400	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr5:61710200-61738800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr5:61710200-61746000	Weak transcription	Primary B cells from cord blood	blood
21	chr5:61710400-61733600	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr5:61710400-61739000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr5:61710400-61746000	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr5:61710600-61738800	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr5:61710600-61739000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr5:61710600-61739200	Weak transcription	HMEC	breast
27	chr5:61710600-61739200	Weak transcription	NHEK	skin
28	chr5:61710600-61744000	Weak transcription	Primary T helper cells PMA-I stimulated	--
29	chr5:61710600-61746000	Weak transcription	A549	lung
30	chr5:61710800-61739000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr5:61710800-61745400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr5:61710800-61746000	Weak transcription	HepG2	liver
33	chr5:61711000-61733400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr5:61712000-61746000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr5:61714000-61746600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr5:61715000-61747200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr5:61715200-61738800	Weak transcription	Primary B cells from peripheral blood	blood
38	chr5:61715400-61733000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr5:61715400-61735600	Weak transcription	Dnd41	blood
40	chr5:61715800-61733400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr5:61715800-61739000	Weak transcription	Hela-S3	cervix
42	chr5:61720800-61733400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr5:61722800-61770600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr5:61725000-61738800	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr5:61725800-61747200	Weak transcription	Thymus	Thymus
46	chr5:61726200-61746200	Weak transcription	HUVEC	blood vessel
47	chr5:61726400-61747200	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr5:61727400-61742400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr5:61727600-61742600	Weak transcription	Fetal Stomach	stomach
50	chr5:61728200-61735600	Weak transcription	Primary T cells from cord blood	blood

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