Variant report

Variant	rs3857433
Chromosome Location	chr5:112365572-112365573
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:112363970..112366861-chr5:112379639..112381179,2	K562	blood:
2	chr5:112365166..112368140-chr5:112517224..112519156,2	K562	blood:

Extended variants
information (count: 40 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10059599	0.94[CEU][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs12516502	0.92[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs12719155	1.00[CEU][hapmap];0.92[CHB][hapmap];0.92[JPT][hapmap];0.89[EUR][1000 genomes]
rs2052484	0.85[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.91[TSI][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2080896	0.92[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2080897	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2112452	0.94[CEU][hapmap];0.85[CHB][hapmap];1.00[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.94[TSI][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2112453	0.92[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.91[TSI][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2161244	0.94[ASN][1000 genomes]
rs2416301	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs33550	0.85[CHB][hapmap];0.91[CHD][hapmap];0.94[JPT][hapmap]
rs33553	0.85[CHB][hapmap];0.94[JPT][hapmap]
rs33563	0.85[CHB][hapmap];0.94[JPT][hapmap]
rs33565	0.85[CHB][hapmap];0.94[JPT][hapmap]
rs3733969	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.97[TSI][hapmap];0.88[EUR][1000 genomes]
rs4260660	0.94[JPT][hapmap]
rs4705530	0.94[CEU][hapmap];0.85[CHB][hapmap];0.97[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.94[TSI][hapmap];0.81[EUR][1000 genomes]
rs4705532	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4705533	0.92[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.94[ASN][1000 genomes]
rs4705743	1.00[CEU][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes]
rs4705746	0.80[JPT][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4705751	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4705754	0.92[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs59147465	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs59265685	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs59664033	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6594659	0.80[CHD][hapmap];0.92[GIH][hapmap];0.94[JPT][hapmap];0.86[MEX][hapmap];0.84[TSI][hapmap]
rs6892724	0.82[JPT][hapmap]
rs7447818	0.92[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.94[ASN][1000 genomes]
rs7718810	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7721666	0.84[EUR][1000 genomes]
rs878073	0.92[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.94[ASN][1000 genomes]
rs878076	0.92[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.94[ASN][1000 genomes]
rs882253	0.92[CHB][hapmap];0.97[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.81[TSI][hapmap];0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs888844	0.92[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs888845	0.94[ASN][1000 genomes]
rs9326869	1.00[CEU][hapmap];0.92[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs959949	0.85[CHD][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv599394	chr5:112185491-112446323	Weak transcription Active TSS Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv882717	chr5:112336588-112408944	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3857433	DCP2	cis	parietal	SCAN

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112317800-112366200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr5:112318400-112365600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr5:112324800-112369800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr5:112332400-112372600	Weak transcription	Fetal Brain Male	brain
5	chr5:112349800-112366600	Weak transcription	Colon Smooth Muscle	Colon
6	chr5:112352400-112367800	Strong transcription	Liver	Liver
7	chr5:112358800-112366000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr5:112359600-112365800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr5:112359600-112367800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr5:112359800-112365600	Strong transcription	Fetal Muscle Leg	muscle
11	chr5:112359800-112365800	Strong transcription	Fetal Muscle Trunk	muscle
12	chr5:112360000-112379000	Weak transcription	Small Intestine	intestine
13	chr5:112360200-112368600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr5:112360400-112367200	Weak transcription	GM12878-XiMat	blood
15	chr5:112360400-112367600	Strong transcription	Cortex derived primary cultured neurospheres	brain
16	chr5:112360400-112368000	Weak transcription	Primary B cells from cord blood	blood
17	chr5:112360400-112368400	Weak transcription	Stomach Mucosa	stomach
18	chr5:112361000-112368000	Strong transcription	Fetal Stomach	stomach
19	chr5:112361400-112365800	Strong transcription	Ovary	ovary
20	chr5:112361400-112365800	Strong transcription	Stomach Smooth Muscle	stomach
21	chr5:112361400-112366200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr5:112361400-112367400	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr5:112361400-112368200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr5:112361600-112365600	Strong transcription	Primary T cells fromperipheralblood	blood
25	chr5:112361800-112365600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr5:112361800-112366000	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr5:112362400-112365600	Strong transcription	Primary T cells from cord blood	blood
28	chr5:112362400-112365600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr5:112362400-112365800	Strong transcription	Esophagus	oesophagus
30	chr5:112362800-112385800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr5:112363000-112365800	Strong transcription	Thymus	Thymus
32	chr5:112363000-112374000	Weak transcription	Pancreas	Pancrea
33	chr5:112363200-112366200	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr5:112363600-112366000	Weak transcription	Primary T helper cells PMA-I stimulated	--
35	chr5:112363600-112366200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr5:112363600-112368400	Weak transcription	Psoas Muscle	Psoas
37	chr5:112363600-112368600	Weak transcription	Rectal Smooth Muscle	rectum
38	chr5:112363600-112379000	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr5:112363600-112379000	Weak transcription	Brain Substantia Nigra	brain
40	chr5:112363600-112379200	Weak transcription	Gastric	stomach
41	chr5:112363600-112379200	Weak transcription	Spleen	Spleen
42	chr5:112363600-112382800	Weak transcription	Fetal Intestine Small	intestine
43	chr5:112363800-112365600	Weak transcription	Primary monocytes fromperipheralblood	blood
44	chr5:112363800-112365600	Weak transcription	Primary B cells from peripheral blood	blood
45	chr5:112363800-112365600	Weak transcription	Primary hematopoietic stem cells	blood
46	chr5:112363800-112365600	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr5:112363800-112365600	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr5:112363800-112365600	Weak transcription	A549	lung
49	chr5:112363800-112365600	Weak transcription	Monocytes-CD14+_RO01746	blood
50	chr5:112363800-112368200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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