Variant report

Variant	rs34326943
Chromosome Location	chr16:30533225-30533226
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:30533190..30536551-chr16:30566417..30568142,3	K562	blood:
2	chr16:30533016..30535468-chr16:30641770..30643758,2	K562	blood:
3	chr16:30485159..30487195-chr16:30532329..30534499,2	K562	blood:
4	chr16:30505908..30508207-chr16:30532104..30535939,4	K562	blood:
5	chr16:30412061..30413626-chr16:30533151..30535430,2	K562	blood:
6	chr16:30533019..30535927-chr16:30549702..30551377,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000005844	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11859342	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11862680	1.00[EUR][1000 genomes]
rs34007971	1.00[EUR][1000 genomes]
rs34874849	1.00[EUR][1000 genomes]
rs35512295	1.00[EUR][1000 genomes]
rs35977794	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs58223373	1.00[EUR][1000 genomes]
rs58223875	1.00[EUR][1000 genomes]
rs60048183	1.00[EUR][1000 genomes]
rs60584290	1.00[EUR][1000 genomes]
rs7191097	1.00[EUR][1000 genomes]
rs7196067	1.00[EUR][1000 genomes]
rs74015016	1.00[EUR][1000 genomes]
rs74015017	1.00[EUR][1000 genomes]
rs74015019	1.00[EUR][1000 genomes]
rs8044106	1.00[EUR][1000 genomes]
rs8051182	1.00[EUR][1000 genomes]
rs8061986	1.00[EUR][1000 genomes]
rs8062907	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532531	chr16:30370550-30581820	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	113 gene(s)	inside rSNPs	diseases
2	nsv1062456	chr16:30442166-31253997	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	437 gene(s)	inside rSNPs	diseases
3	nsv542898	chr16:30442166-31253997	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	437 gene(s)	inside rSNPs	diseases
4	nsv905726	chr16:30528272-30546488	Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:30486800-30533400	Weak transcription	Esophagus	oesophagus
2	chr16:30487000-30534800	Strong transcription	Primary neutrophils fromperipheralblood	blood
3	chr16:30489000-30534000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr16:30490800-30534600	Strong transcription	Thymus	Thymus
5	chr16:30491000-30534000	Strong transcription	Primary monocytes fromperipheralblood	blood
6	chr16:30491600-30533800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr16:30492200-30534600	Strong transcription	Fetal Thymus	thymus
8	chr16:30503400-30534000	Strong transcription	Primary T helper cells fromperipheralblood	blood
9	chr16:30503600-30534600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
10	chr16:30504400-30533400	Strong transcription	Primary T helper cells PMA-I stimulated	--
11	chr16:30505000-30534000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr16:30505000-30534400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr16:30507800-30534000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr16:30508800-30535600	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr16:30510800-30535800	Weak transcription	Right Atrium	heart
16	chr16:30512000-30534000	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr16:30514400-30534600	Strong transcription	Primary B cells from peripheral blood	blood
18	chr16:30516800-30535600	Weak transcription	Brain Hippocampus Middle	brain
19	chr16:30518200-30537200	Weak transcription	Brain Substantia Nigra	brain
20	chr16:30519600-30533600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr16:30519800-30536400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr16:30520600-30534000	Strong transcription	GM12878-XiMat	blood
23	chr16:30522400-30533600	Strong transcription	Spleen	Spleen
24	chr16:30522400-30536000	Weak transcription	Rectal Smooth Muscle	rectum
25	chr16:30524800-30535600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr16:30524800-30537200	Weak transcription	Dnd41	blood
27	chr16:30527600-30537000	Weak transcription	Primary hematopoietic stem cells	blood
28	chr16:30528200-30533400	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr16:30528400-30535600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr16:30529200-30535800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr16:30530200-30534800	Weak transcription	Fetal Stomach	stomach
32	chr16:30530200-30537400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr16:30530800-30534000	Strong transcription	Primary T cells from cord blood	blood
34	chr16:30530800-30534000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr16:30531000-30534000	Strong transcription	Primary B cells from cord blood	blood
36	chr16:30531200-30535600	Weak transcription	Placenta	Placenta
37	chr16:30531200-30537200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr16:30531400-30535600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr16:30531400-30537200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
40	chr16:30532000-30534600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr16:30532000-30535400	Weak transcription	Fetal Brain Female	brain
42	chr16:30532000-30536800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr16:30532000-30537200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
44	chr16:30532200-30535200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr16:30532200-30535200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr16:30532200-30537200	Weak transcription	NHEK	skin
47	chr16:30532400-30537200	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr16:30532600-30535600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr16:30532600-30537200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr16:30532800-30533600	Strong transcription	Lung	lung

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