Variant report

Variant	rs3735828
Chromosome Location	chr8:61592425-61592426
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:61563005..61568398-chr8:61588453..61593214,14	K562	blood:
2	chr8:61562515..61568989-chr8:61586860..61594946,37	MCF-7	breast:
3	chr8:61562679..61568216-chr8:61588453..61593754,19	K562	blood:
4	chr21:44846628..44847190-chr8:61592028..61592852,2	Hela-S3	cervix:
5	chr8:61571219..61575228-chr8:61591571..61593615,3	MCF-7	breast:
6	chr11:72463368..72463911-chr8:61592033..61592792,2	Hela-S3	cervix:
7	chr8:61590410..61592571-chr8:61654156..61656255,3	MCF-7	breast:
8	chr8:61559343..61568621-chr8:61588061..61597189,35	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000186635	Chromatin interaction
ENSG00000255289	Chromatin interaction
ENSG00000254869	Chromatin interaction
ENSG00000142178	Chromatin interaction
ENSG00000171316	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs4738813	0.82[ASN][1000 genomes]
rs4738814	0.84[ASN][1000 genomes]
rs900503	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917756	chr8:60942299-61862796	Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv530383	chr8:61431756-61605551	Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv831335	chr8:61497540-61688992	Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv890945	chr8:61522008-61707725	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	nsv824657	chr8:61555227-61626758	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
6	nsv824658	chr8:61561488-61612108	Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
7	nsv1027929	chr8:61569620-61617812	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
8	nsv1017564	chr8:61577791-61617812	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
9	nsv824659	chr8:61586207-61596149	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
10	esv3327812	chr8:61590023-61592771	Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
11	esv3430598	chr8:61590673-61593396	Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
12	esv3355358	chr8:61590823-61593571	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3735828	RAB2A	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61590000-61593600	Active TSS	Rectal Mucosa Donor 29	rectum
2	chr8:61590000-61593800	Active TSS	Rectal Mucosa Donor 31	rectum
3	chr8:61590000-61593800	Active TSS	HMEC	breast
4	chr8:61590200-61593200	Active TSS	Liver	Liver
5	chr8:61590200-61593600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr8:61590200-61594200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr8:61590200-61594200	Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr8:61590200-61594800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr8:61590400-61592600	Active TSS	Fetal Adrenal Gland	Adrenal Gland
10	chr8:61590400-61593200	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr8:61590400-61593200	Active TSS	A549	lung
12	chr8:61590400-61593200	Active TSS	K562	blood
13	chr8:61590400-61593400	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr8:61590400-61593400	Active TSS	Primary T helper cells PMA-I stimulated	--
15	chr8:61590400-61593400	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr8:61590400-61593400	Active TSS	Aorta	Aorta
17	chr8:61590400-61593400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
18	chr8:61590400-61593400	Active TSS	Duodenum Smooth Muscle	Duodenum
19	chr8:61590400-61593400	Bivalent/Poised TSS	Fetal Stomach	stomach
20	chr8:61590400-61593400	Active TSS	Placenta Amnion	Placenta Amnion
21	chr8:61590400-61593600	Active TSS	Brain Inferior Temporal Lobe	brain
22	chr8:61590400-61593600	Active TSS	Colon Smooth Muscle	Colon
23	chr8:61590400-61593600	Active TSS	Skeletal Muscle Male	skeletal muscle
24	chr8:61590400-61593600	Active TSS	Skeletal Muscle Female	skeletal muscle
25	chr8:61590400-61593600	Active TSS	Hela-S3	cervix
26	chr8:61590400-61593800	Active TSS	Breast Myoepithelial Primary Cells	Breast
27	chr8:61590400-61593800	Active TSS	Brain Hippocampus Middle	brain
28	chr8:61590400-61593800	Active TSS	Colonic Mucosa	Colon
29	chr8:61590400-61593800	Active TSS	Fetal Intestine Large	intestine
30	chr8:61590400-61593800	Active TSS	Fetal Intestine Small	intestine
31	chr8:61590400-61593800	Active TSS	Rectal Smooth Muscle	rectum
32	chr8:61590400-61593800	Active TSS	GM12878-XiMat	blood
33	chr8:61590400-61593800	Active TSS	HSMMtube	muscle
34	chr8:61590400-61594000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr8:61590400-61594000	Active TSS	Duodenum Mucosa	Duodenum
36	chr8:61590400-61594000	Active TSS	Psoas Muscle	Psoas
37	chr8:61590400-61594000	Active TSS	Right Atrium	heart
38	chr8:61590400-61594000	Active TSS	Right Ventricle	heart
39	chr8:61590400-61594000	Active TSS	Stomach Smooth Muscle	stomach
40	chr8:61590400-61594000	Active TSS	HSMM	muscle
41	chr8:61590400-61594200	Active TSS	Brain Anterior Caudate	brain
42	chr8:61590400-61594400	Active TSS	Brain Cingulate Gyrus	brain
43	chr8:61590600-61593200	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
44	chr8:61590600-61593200	Active TSS	Fetal Kidney	kidney
45	chr8:61590600-61593200	Active TSS	Gastric	stomach
46	chr8:61590600-61593200	Active TSS	Spleen	Spleen
47	chr8:61590600-61593400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr8:61590600-61593400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr8:61590600-61593400	Active TSS	Primary T helper naive cells from peripheral blood	blood
50	chr8:61590600-61593400	Active TSS	Esophagus	oesophagus

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