Variant report

Variant	rs4149507
Chromosome Location	chr2:101032745-101032746
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:101032545..101035627-chr2:101179557..101182939,4	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LONRF2-1	chr2:101032685-101032987	NONHSAT072778

Variant related genes	Relation type
ENSG00000115539	Chromatin interaction

Extended variants
information (count: 159 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:153)

rs_ID	r²[population]
rs10048665	0.91[EUR][1000 genomes]
rs10174145	0.93[EUR][1000 genomes]
rs10180423	0.85[EUR][1000 genomes]
rs10182399	0.92[EUR][1000 genomes]
rs10183150	0.89[EUR][1000 genomes]
rs10186134	0.86[EUR][1000 genomes]
rs10193204	0.93[EUR][1000 genomes]
rs10194210	0.85[EUR][1000 genomes]
rs10195793	0.86[EUR][1000 genomes]
rs10202326	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1030901	0.93[EUR][1000 genomes]
rs1030902	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10460478	0.85[EUR][1000 genomes]
rs11123824	0.86[EUR][1000 genomes]
rs11123826	0.82[CEU][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11123827	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1114595	0.85[EUR][1000 genomes]
rs11674569	0.91[CEU][hapmap];0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11674830	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11675901	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11678148	0.88[CEU][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11678158	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11680660	0.93[EUR][1000 genomes]
rs11682557	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11682748	0.87[EUR][1000 genomes]
rs11683121	0.85[EUR][1000 genomes]
rs11684004	0.88[CEU][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11684516	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11685250	0.88[CEU][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11685406	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11686293	0.87[EUR][1000 genomes]
rs11686649	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11686799	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11686842	0.88[CEU][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11686880	0.87[CEU][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11687352	0.85[EUR][1000 genomes]
rs11687865	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11688285	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11689439	0.86[EUR][1000 genomes]
rs11691135	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11691684	0.87[EUR][1000 genomes]
rs11693044	0.87[EUR][1000 genomes]
rs11693424	0.86[EUR][1000 genomes]
rs11693471	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11694642	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11694700	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11892034	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11895772	0.85[EUR][1000 genomes]
rs12373827	0.91[CEU][hapmap];0.88[EUR][1000 genomes]
rs12615466	0.87[EUR][1000 genomes]
rs12617779	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12618908	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12621892	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12622318	0.87[EUR][1000 genomes]
rs12712075	0.86[EUR][1000 genomes]
rs12989897	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12990688	0.85[EUR][1000 genomes]
rs12991172	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12991577	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12997725	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12999151	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12999779	0.86[EUR][1000 genomes]
rs13001423	0.86[EUR][1000 genomes]
rs13006224	0.86[EUR][1000 genomes]
rs13020451	0.86[EUR][1000 genomes]
rs13021801	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13023534	0.86[EUR][1000 genomes]
rs13026570	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13031711	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13031906	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1437967	0.82[EUR][1000 genomes]
rs1437969	0.88[EUR][1000 genomes]
rs1530028	0.82[CHB][hapmap];0.87[EUR][1000 genomes]
rs1530029	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1530030	0.91[CEU][hapmap];0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1530031	0.86[CEU][hapmap];0.94[EUR][1000 genomes]
rs1811415	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1837143	0.85[EUR][1000 genomes]
rs1866198	0.84[EUR][1000 genomes]
rs1946799	0.80[EUR][1000 genomes]
rs1967339	0.85[EUR][1000 genomes]
rs1967340	0.80[EUR][1000 genomes]
rs1967341	0.86[EUR][1000 genomes]
rs2099611	0.82[CEU][hapmap];0.90[EUR][1000 genomes]
rs2164847	0.87[CEU][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2241809	0.96[CEU][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2241810	0.91[CEU][hapmap];0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2241811	0.82[CEU][hapmap];0.89[EUR][1000 genomes]
rs2309798	0.87[CEU][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2309800	0.87[EUR][1000 genomes]
rs2309852	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3748930	0.87[CEU][hapmap];0.94[EUR][1000 genomes]
rs3828193	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4149505	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4149510	1.00[CEU][hapmap];0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4149512	1.00[CEU][hapmap];0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4149513	1.00[CEU][hapmap];0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4149517	0.82[CEU][hapmap];0.89[EUR][1000 genomes]
rs4149518	0.95[CEU][hapmap];0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4149523	0.88[EUR][1000 genomes]
rs4264577	0.91[EUR][1000 genomes]
rs4340543	0.93[EUR][1000 genomes]
rs4378827	0.88[EUR][1000 genomes]
rs4387816	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4407265	0.87[EUR][1000 genomes]
rs4477940	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4635546	0.83[EUR][1000 genomes]
rs4640404	0.88[EUR][1000 genomes]
rs4850927	0.82[CEU][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4850929	0.88[EUR][1000 genomes]
rs4850930	0.88[EUR][1000 genomes]
rs4850931	0.93[EUR][1000 genomes]
rs4851292	0.87[EUR][1000 genomes]
rs4851293	0.86[EUR][1000 genomes]
rs4851294	0.94[EUR][1000 genomes]
rs4851297	0.90[EUR][1000 genomes]
rs4851298	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4851302	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4851303	0.87[EUR][1000 genomes]
rs4851304	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4851305	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4851310	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4851311	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4851312	0.83[CEU][hapmap];0.89[EUR][1000 genomes]
rs4851313	0.83[CEU][hapmap];0.87[EUR][1000 genomes]
rs4851315	0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs62148360	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6542940	0.89[EUR][1000 genomes]
rs6542942	0.91[EUR][1000 genomes]
rs6542944	0.88[EUR][1000 genomes]
rs6542947	0.88[EUR][1000 genomes]
rs6716636	0.88[CEU][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6725052	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6731549	0.85[CEU][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6736311	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6737217	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6749018	0.91[EUR][1000 genomes]
rs6754176	0.83[CEU][hapmap];0.88[EUR][1000 genomes]
rs6757754	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs74177694	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs74177695	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs74177696	0.88[EUR][1000 genomes]
rs7425449	0.87[EUR][1000 genomes]
rs7425797	0.87[EUR][1000 genomes]
rs7585582	0.83[CEU][hapmap];0.88[EUR][1000 genomes]
rs7590388	0.84[EUR][1000 genomes]
rs7597615	0.88[CEU][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs893416	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs920269	0.84[EUR][1000 genomes]
rs920270	0.84[EUR][1000 genomes]
rs930374	0.86[EUR][1000 genomes]
rs9646954	0.88[ASN][1000 genomes]
rs9973536	0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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
6	nsv829583	chr2:101031032-101038750	Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 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	chr2:101008000-101033000	Weak transcription	Primary T cells fromperipheralblood	blood
4	chr2:101010200-101032800	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr2:101013200-101033000	Weak transcription	Fetal Intestine Large	intestine
6	chr2:101014400-101033200	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr2:101015600-101033000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr2:101017000-101032800	Weak transcription	Osteobl	bone
9	chr2:101018400-101033000	Weak transcription	Primary B cells from cord blood	blood
10	chr2:101019000-101032800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr2:101021000-101033200	Weak transcription	Colonic Mucosa	Colon
12	chr2:101022200-101033000	Weak transcription	HSMMtube	muscle
13	chr2:101022800-101033000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr2:101022800-101033000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr2:101023200-101032800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr2:101023200-101033000	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr2:101023200-101033000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr2:101023200-101033000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr2:101023200-101033000	Weak transcription	Fetal Thymus	thymus
20	chr2:101023400-101033000	Weak transcription	Fetal Kidney	kidney
21	chr2:101023600-101032800	Weak transcription	Primary B cells from peripheral blood	blood
22	chr2:101023800-101032800	Weak transcription	Psoas Muscle	Psoas
23	chr2:101024000-101033000	Weak transcription	Fetal Intestine Small	intestine
24	chr2:101024200-101032800	Weak transcription	Adipose Nuclei	Adipose
25	chr2:101024200-101033000	Weak transcription	Gastric	stomach
26	chr2:101024400-101033000	Weak transcription	Spleen	Spleen
27	chr2:101025000-101033000	Weak transcription	Pancreas	Pancrea
28	chr2:101027000-101033000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr2:101027000-101033000	Weak transcription	Placenta	Placenta
30	chr2:101027000-101033000	Weak transcription	Left Ventricle	heart
31	chr2:101027000-101033000	Weak transcription	Lung	lung
32	chr2:101027000-101033000	Weak transcription	Right Ventricle	heart
33	chr2:101027000-101033200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr2:101027800-101032800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
35	chr2:101028000-101033000	Enhancers	Brain Substantia Nigra	brain
36	chr2:101028800-101032800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr2:101029000-101033000	Weak transcription	Aorta	Aorta
38	chr2:101029600-101033000	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr2:101030000-101033000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr2:101030800-101032800	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr2:101030800-101033000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr2:101030800-101033000	Weak transcription	Fetal Muscle Trunk	muscle
43	chr2:101031000-101032800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr2:101031000-101032800	Weak transcription	Right Atrium	heart
45	chr2:101031000-101032800	Weak transcription	Thymus	Thymus
46	chr2:101031000-101033000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr2:101031000-101033000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr2:101031000-101033200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
49	chr2:101031200-101032800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr2:101031200-101032800	Flanking Active TSS	Brain Germinal Matrix	brain

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