Variant report

Variant	rs2705616
Chromosome Location	chr4:87862396-87862397
allele	C/G
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	chr4:87861846..87864713-chr4:88083470..88086069,2	K562	blood:
2	chr4:87854585..87857890-chr4:87861673..87864698,5	MCF-7	breast:
3	chr4:87860517..87862879-chr4:87877524..87879606,2	K562	blood:
4	chr4:87845889..87863516-chr4:87925389..87935181,79	K562	blood:
5	chr4:87853595..87871697-chr4:87924007..87941983,77	K562	blood:
6	chr4:87861386..87863585-chr4:87881486..87883645,2	K562	blood:
7	chr4:87860293..87862516-chr4:87877340..87879546,2	MCF-7	breast:
8	chr4:87861604..87864179-chr4:87870978..87873929,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000163633	Chromatin interaction
ENSG00000172493	Chromatin interaction
ENSG00000235043	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10022539	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12651081	0.87[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs13102958	0.87[ASN][1000 genomes]
rs13116978	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1584346	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2053775	0.87[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs2594277	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2594278	0.99[ASN][1000 genomes]
rs2594279	0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2705618	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2785	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3109038	0.87[ASN][1000 genomes]
rs3113493	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3113494	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3113495	0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs4274814	0.87[ASN][1000 genomes]
rs4536898	0.87[ASN][1000 genomes]
rs991852	0.85[ASN][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	nsv594787	chr4:87221827-87888667	Enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv1013308	chr4:87769694-87870168	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv508297	chr4:87778783-87868508	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
4	nsv1009937	chr4:87795314-88008345	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2705616	C4orf36,ARPC1A	cis	brain	BrainEAC

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:87857600-87882000	Weak transcription	Spleen	Spleen
2	chr4:87857800-87867800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr4:87857800-87880200	Weak transcription	HSMM	muscle
4	chr4:87858000-87867600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr4:87858200-87866800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr4:87858200-87869400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr4:87858600-87862400	Enhancers	Primary T cells fromperipheralblood	blood
8	chr4:87858600-87862400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
9	chr4:87858600-87863200	Enhancers	Sigmoid Colon	Sigmoid Colon
10	chr4:87858600-87864800	Enhancers	Fetal Thymus	thymus
11	chr4:87858600-87881000	Weak transcription	Stomach Smooth Muscle	stomach
12	chr4:87858800-87864400	Enhancers	Liver	Liver
13	chr4:87859000-87864400	Enhancers	Fetal Intestine Large	intestine
14	chr4:87859200-87865600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr4:87859800-87863600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr4:87859800-87864000	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr4:87860200-87863200	Enhancers	Pancreas	Pancrea
18	chr4:87860800-87862400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
19	chr4:87860800-87862600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
20	chr4:87860800-87862600	Enhancers	Gastric	stomach
21	chr4:87860800-87862600	Enhancers	Lung	lung
22	chr4:87861000-87862400	Enhancers	Stomach Mucosa	stomach
23	chr4:87861000-87863200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr4:87861000-87864800	Enhancers	HepG2	liver
25	chr4:87861000-87878000	Weak transcription	HMEC	breast
26	chr4:87861200-87863000	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr4:87861200-87863000	Weak transcription	A549	lung
28	chr4:87861200-87863800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
29	chr4:87861200-87863800	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr4:87861200-87864200	Enhancers	Rectal Mucosa Donor 31	rectum
31	chr4:87861200-87864400	Enhancers	HUVEC	blood vessel
32	chr4:87861200-87864800	Enhancers	Primary hematopoietic stem cells short term culture	blood
33	chr4:87861400-87862400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr4:87861400-87862400	Weak transcription	Psoas Muscle	Psoas
35	chr4:87861400-87862600	Enhancers	Primary B cells from peripheral blood	blood
36	chr4:87861400-87863000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr4:87861400-87863000	Weak transcription	NHDF-Ad	bronchial
38	chr4:87861400-87863200	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr4:87861400-87863400	Weak transcription	Rectal Smooth Muscle	rectum
40	chr4:87861400-87863600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr4:87861400-87863600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr4:87861400-87863600	Weak transcription	Brain Anterior Caudate	brain
43	chr4:87861400-87864400	Enhancers	Rectal Mucosa Donor 29	rectum
44	chr4:87861400-87864800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr4:87861400-87865400	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr4:87861400-87865800	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr4:87861400-87866200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr4:87861400-87866200	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr4:87861400-87867800	Weak transcription	Right Ventricle	heart
50	chr4:87861400-87868000	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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