Variant report

Variant	rs35194354
Chromosome Location	chr3:46959093-46959094
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:46958432..46960796-chr3:46964876..46966777,2	K562	blood:
2	chr3:46956820..46959404-chr3:47037411..47039002,2	K562	blood:
3	chr3:46959005..46961789-chr3:47016255..47019685,3	K562	blood:
4	chr3:46959018..46961280-chr3:47014684..47016373,2	MCF-7	breast:
5	chr3:46956501..46959186-chr3:47021476..47023726,2	K562	blood:

Variant related genes	Relation type
ENSG00000160799	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs12715420	0.89[EUR][1000 genomes]
rs13060505	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs33983156	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs34207078	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs35512962	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs71327102	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs71328903	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7624740	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs936183	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs9841902	0.91[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007449	chr3:46652343-46986578	Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv536554	chr3:46652343-46986578	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	esv2757869	chr3:46680452-46972489	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
4	esv2759147	chr3:46680452-46972489	Genic enhancers Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	nsv536558	chr3:46706571-47024756	Enhancers Bivalent Enhancer Active TSS Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
6	nsv915922	chr3:46768104-47009805	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
7	nsv876752	chr3:46879831-46967040	Bivalent/Poised TSS Genic enhancers Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
8	nsv876754	chr3:46884552-46967040	Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
9	nsv876755	chr3:46895109-47061183	Genic enhancers Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
10	nsv460526	chr3:46935527-47001350	Genic enhancers Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 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	chr3:46950600-46961800	Weak transcription	Aorta	Aorta
2	chr3:46951200-46960400	Weak transcription	Colonic Mucosa	Colon
3	chr3:46951400-46961600	Weak transcription	Stomach Mucosa	stomach
4	chr3:46951600-46959400	Weak transcription	Brain Angular Gyrus	brain
5	chr3:46951600-46959600	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr3:46951600-46960200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr3:46951600-46960200	Weak transcription	Brain Cingulate Gyrus	brain
8	chr3:46951600-46960200	Weak transcription	Brain Substantia Nigra	brain
9	chr3:46951600-46960200	Weak transcription	Rectal Smooth Muscle	rectum
10	chr3:46951600-46960800	Weak transcription	Colon Smooth Muscle	Colon
11	chr3:46951600-46961800	Weak transcription	HepG2	liver
12	chr3:46951600-46962400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr3:46955400-46959600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr3:46955600-46959400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr3:46955600-46959400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr3:46955600-46959400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr3:46955600-46959600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr3:46955600-46960200	Weak transcription	Pancreas	Pancrea
19	chr3:46955600-46960200	Weak transcription	Spleen	Spleen
20	chr3:46955600-46960400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr3:46955600-46961200	Weak transcription	Gastric	stomach
22	chr3:46955600-46961400	Weak transcription	Small Intestine	intestine
23	chr3:46955800-46959400	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr3:46955800-46960200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr3:46955800-46960200	Weak transcription	Ovary	ovary
26	chr3:46955800-46961800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr3:46955800-46961800	Weak transcription	Psoas Muscle	Psoas
28	chr3:46955800-46964800	Weak transcription	Right Atrium	heart
29	chr3:46956000-46962000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr3:46956200-46960200	Weak transcription	Left Ventricle	heart
31	chr3:46956400-46965200	Strong transcription	Monocytes-CD14+_RO01746	blood
32	chr3:46956600-46967200	Strong transcription	Thymus	Thymus
33	chr3:46956800-46959200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr3:46956800-46966600	Strong transcription	Primary monocytes fromperipheralblood	blood
35	chr3:46957000-46964600	Strong transcription	Primary B cells from peripheral blood	blood
36	chr3:46957000-46965400	Strong transcription	Fetal Muscle Trunk	muscle
37	chr3:46957200-46964800	Weak transcription	Fetal Heart	heart
38	chr3:46957400-46960200	Weak transcription	Esophagus	oesophagus
39	chr3:46957400-46960200	Weak transcription	Lung	lung
40	chr3:46957800-46959200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr3:46957800-46959600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr3:46957800-46959600	Strong transcription	Primary B cells from cord blood	blood
43	chr3:46957800-46966600	Strong transcription	Fetal Thymus	thymus
44	chr3:46957800-46967200	Strong transcription	HSMM	muscle
45	chr3:46958000-46959400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr3:46958200-46959600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr3:46958200-46960600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
48	chr3:46958200-46960600	Strong transcription	Skeletal Muscle Female	skeletal muscle
49	chr3:46958200-46964800	Strong transcription	Placenta Amnion	Placenta Amnion
50	chr3:46958200-46966800	Strong transcription	Rectal Mucosa Donor 29	rectum

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