Variant report

Variant	rs4851313
Chromosome Location	chr2:101029002-101029003
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:101022665..101026054-chr2:101026732..101029227,3	K562	blood:
2	chr2:101014453..101016382-chr2:101028755..101030406,2	K562	blood:
3	chr2:101026309..101028230-chr2:101028267..101030019,2	K562	blood:
4	chr2:100906911..100909075-chr2:101026496..101029080,2	MCF-7	breast:
5	chr2:101025440..101029352-chr2:101031639..101035413,6	K562	blood:

Variant related genes	Relation type
ENSG00000115526	Chromatin interaction

Extended variants
information (count: 138 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:133)

rs_ID	r²[population]
rs10174145	0.82[EUR][1000 genomes]
rs10180423	0.84[TSI][hapmap];0.82[EUR][1000 genomes]
rs10182399	0.81[EUR][1000 genomes]
rs10183150	0.87[EUR][1000 genomes]
rs10186134	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10193204	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10195793	0.81[EUR][1000 genomes]
rs10202326	0.81[EUR][1000 genomes]
rs1030901	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1030902	0.85[EUR][1000 genomes]
rs10460478	0.82[EUR][1000 genomes]
rs11123824	0.81[EUR][1000 genomes]
rs11123826	0.82[EUR][1000 genomes]
rs1114595	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11674569	0.84[EUR][1000 genomes]
rs11674830	0.86[EUR][1000 genomes]
rs11675901	0.80[EUR][1000 genomes]
rs11678148	0.81[EUR][1000 genomes]
rs11678158	0.82[EUR][1000 genomes]
rs11680660	0.82[EUR][1000 genomes]
rs11682748	0.80[TSI][hapmap];0.81[EUR][1000 genomes]
rs11683088	0.88[EUR][1000 genomes]
rs11683121	0.82[EUR][1000 genomes]
rs11684004	0.81[EUR][1000 genomes]
rs11684516	0.82[EUR][1000 genomes]
rs11685250	0.81[EUR][1000 genomes]
rs11685406	0.81[EUR][1000 genomes]
rs11686293	0.81[EUR][1000 genomes]
rs11686649	0.81[EUR][1000 genomes]
rs11686799	0.81[EUR][1000 genomes]
rs11686842	0.81[EUR][1000 genomes]
rs11686880	0.81[EUR][1000 genomes]
rs11687352	0.82[EUR][1000 genomes]
rs11689439	0.80[EUR][1000 genomes]
rs11690621	0.83[CHB][hapmap]
rs11691135	0.82[EUR][1000 genomes]
rs11691684	0.84[EUR][1000 genomes]
rs11693044	0.81[EUR][1000 genomes]
rs11693424	0.80[EUR][1000 genomes]
rs11694642	0.81[EUR][1000 genomes]
rs11694700	0.82[EUR][1000 genomes]
rs11892034	0.82[EUR][1000 genomes]
rs12373827	0.93[CEU][hapmap];0.83[CHB][hapmap];0.94[CHD][hapmap];0.87[GIH][hapmap];0.94[JPT][hapmap];0.92[MEX][hapmap];0.89[TSI][hapmap];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12615466	0.81[EUR][1000 genomes]
rs12617779	0.82[EUR][1000 genomes]
rs12622318	0.81[EUR][1000 genomes]
rs12712075	0.81[EUR][1000 genomes]
rs12989897	0.82[EUR][1000 genomes]
rs12991172	0.82[EUR][1000 genomes]
rs12991577	0.85[EUR][1000 genomes]
rs12997725	0.81[EUR][1000 genomes]
rs12999151	0.82[EUR][1000 genomes]
rs12999779	0.81[EUR][1000 genomes]
rs13001423	0.80[EUR][1000 genomes]
rs13020451	0.81[EUR][1000 genomes]
rs13021801	0.81[EUR][1000 genomes]
rs13026570	0.82[EUR][1000 genomes]
rs13031711	0.82[EUR][1000 genomes]
rs13031906	0.82[EUR][1000 genomes]
rs1437967	0.90[EUR][1000 genomes]
rs1437969	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1530028	0.80[TSI][hapmap];0.81[EUR][1000 genomes]
rs1530029	0.83[EUR][1000 genomes]
rs1530030	0.85[EUR][1000 genomes]
rs1530031	0.82[CEU][hapmap];0.93[GIH][hapmap];0.83[JPT][hapmap];0.96[MEX][hapmap];0.83[TSI][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1811415	0.84[EUR][1000 genomes]
rs1837143	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1866198	0.81[EUR][1000 genomes]
rs1967339	0.80[EUR][1000 genomes]
rs1967341	0.81[EUR][1000 genomes]
rs2099611	1.00[ASW][hapmap];0.93[CEU][hapmap];0.82[CHD][hapmap];0.98[GIH][hapmap];0.83[JPT][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];0.91[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2164847	0.81[EUR][1000 genomes]
rs2241809	0.82[CEU][hapmap];0.85[EUR][1000 genomes]
rs2241810	0.85[EUR][1000 genomes]
rs2241811	1.00[ASW][hapmap];0.93[CEU][hapmap];0.82[CHD][hapmap];0.95[GIH][hapmap];0.83[JPT][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];0.91[TSI][hapmap];0.93[YRI][hapmap];0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2309798	0.81[EUR][1000 genomes]
rs2309800	0.82[CEU][hapmap];0.83[JPT][hapmap];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2309852	0.83[EUR][1000 genomes]
rs3748930	0.82[CEU][hapmap];0.83[JPT][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3828193	0.85[CEU][hapmap];0.87[EUR][1000 genomes]
rs4149505	0.87[EUR][1000 genomes]
rs4149507	0.83[CEU][hapmap];0.87[EUR][1000 genomes]
rs4149510	0.85[CEU][hapmap];0.85[EUR][1000 genomes]
rs4149512	0.85[CEU][hapmap];0.86[EUR][1000 genomes]
rs4149513	0.85[CEU][hapmap];0.85[EUR][1000 genomes]
rs4149517	1.00[ASW][hapmap];0.93[CEU][hapmap];0.98[GIH][hapmap];0.83[JPT][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];0.91[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4149518	0.82[CEU][hapmap];0.85[EUR][1000 genomes]
rs4149523	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4340543	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4378827	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4387816	0.83[EUR][1000 genomes]
rs4407265	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4477940	0.81[EUR][1000 genomes]
rs4635546	0.80[EUR][1000 genomes]
rs4640404	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4850927	0.83[EUR][1000 genomes]
rs4850929	0.82[CEU][hapmap];0.83[JPT][hapmap];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4850930	0.82[CEU][hapmap];0.83[JPT][hapmap];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4850931	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4851288	0.88[EUR][1000 genomes]
rs4851292	0.81[EUR][1000 genomes]
rs4851293	0.81[EUR][1000 genomes]
rs4851294	0.83[EUR][1000 genomes]
rs4851298	0.80[EUR][1000 genomes]
rs4851302	0.81[EUR][1000 genomes]
rs4851303	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4851304	0.82[EUR][1000 genomes]
rs4851310	0.83[EUR][1000 genomes]
rs4851311	0.83[EUR][1000 genomes]
rs4851312	0.93[CEU][hapmap];0.83[JPT][hapmap];0.93[YRI][hapmap];0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62148360	0.84[EUR][1000 genomes]
rs6542940	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6542942	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6542944	0.82[CEU][hapmap];0.83[JPT][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6542947	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6716636	0.82[EUR][1000 genomes]
rs6725052	0.82[EUR][1000 genomes]
rs6731549	0.82[EUR][1000 genomes]
rs6736311	0.81[EUR][1000 genomes]
rs6737217	0.85[EUR][1000 genomes]
rs6749018	0.90[EUR][1000 genomes]
rs6754176	0.93[CEU][hapmap];0.83[JPT][hapmap];0.93[YRI][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6757754	0.81[EUR][1000 genomes]
rs74177694	0.83[EUR][1000 genomes]
rs7425449	0.80[TSI][hapmap];0.81[EUR][1000 genomes]
rs7425797	0.81[EUR][1000 genomes]
rs7585582	0.93[CEU][hapmap];0.83[JPT][hapmap];0.93[YRI][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7590388	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7597615	0.81[EUR][1000 genomes]
rs920269	0.81[EUR][1000 genomes]
rs920270	0.82[EUR][1000 genomes]
rs930374	0.90[EUR][1000 genomes]
rs9973536	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007777	chr2:100816913-101308914	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv535844	chr2:100816913-101308914	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv582531	chr2:100908508-101207639	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv916792	chr2:101021066-101525200	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	nsv582532	chr2:101029002-101531943	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4851313	LONRF2	cis	cerebellum	SCAN

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:101005600-101032800	Weak transcription	HUVEC	blood vessel
2	chr2:101005800-101033000	Weak transcription	Duodenum Mucosa	Duodenum
3	chr2:101006600-101031600	Strong transcription	Fetal Stomach	stomach
4	chr2:101007200-101032000	Weak transcription	NHDF-Ad	bronchial
5	chr2:101007600-101030600	Weak transcription	NH-A	brain
6	chr2:101008000-101033000	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr2:101010200-101032800	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr2:101013200-101030400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr2:101013200-101033000	Weak transcription	Fetal Intestine Large	intestine
10	chr2:101014400-101033200	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr2:101014800-101032400	Weak transcription	Hela-S3	cervix
12	chr2:101015600-101033000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr2:101016400-101032600	Weak transcription	HSMM	muscle
14	chr2:101017000-101032800	Weak transcription	Osteobl	bone
15	chr2:101018400-101033000	Weak transcription	Primary B cells from cord blood	blood
16	chr2:101019000-101032800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr2:101021000-101033200	Weak transcription	Colonic Mucosa	Colon
18	chr2:101022200-101033000	Weak transcription	HSMMtube	muscle
19	chr2:101022600-101032200	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr2:101022800-101030200	Weak transcription	Thymus	Thymus
21	chr2:101022800-101030400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr2:101022800-101030600	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr2:101022800-101032200	Weak transcription	Rectal Smooth Muscle	rectum
24	chr2:101022800-101032400	Weak transcription	Colon Smooth Muscle	Colon
25	chr2:101022800-101033000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr2:101022800-101033000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr2:101023200-101029400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr2:101023200-101030400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr2:101023200-101032800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr2:101023200-101033000	Weak transcription	Primary monocytes fromperipheralblood	blood
31	chr2:101023200-101033000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr2:101023200-101033000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr2:101023200-101033000	Weak transcription	Fetal Thymus	thymus
34	chr2:101023400-101032600	Weak transcription	Primary hematopoietic stem cells	blood
35	chr2:101023400-101033000	Weak transcription	Fetal Kidney	kidney
36	chr2:101023600-101031800	Weak transcription	Monocytes-CD14+_RO01746	blood
37	chr2:101023600-101032800	Weak transcription	Primary B cells from peripheral blood	blood
38	chr2:101023800-101029600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr2:101023800-101030200	Weak transcription	GM12878-XiMat	blood
40	chr2:101023800-101032200	Weak transcription	Ovary	ovary
41	chr2:101023800-101032800	Weak transcription	Psoas Muscle	Psoas
42	chr2:101024000-101031400	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr2:101024000-101033000	Weak transcription	Fetal Intestine Small	intestine
44	chr2:101024200-101029600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr2:101024200-101030400	Weak transcription	Fetal Lung	lung
46	chr2:101024200-101032000	Weak transcription	Primary T cells from cord blood	blood
47	chr2:101024200-101032400	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr2:101024200-101032800	Weak transcription	Adipose Nuclei	Adipose
49	chr2:101024200-101033000	Weak transcription	Gastric	stomach
50	chr2:101024400-101029400	Weak transcription	Fetal Muscle Leg	muscle

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