Variant report

Variant	rs1811415
Chromosome Location	chr2:101015601-101015602
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:101014564..101016930-chr2:101031789..101033882,2	K562	blood:
2	chr2:101014453..101016382-chr2:101028755..101030406,2	K562	blood:
3	chr2:101011858..101014600-chr2:101014711..101016772,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000115526	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:155)

rs_ID	r²[population]
rs10048665	0.91[EUR][1000 genomes]
rs10174145	0.93[EUR][1000 genomes]
rs10180423	0.85[EUR][1000 genomes]
rs10182399	0.93[EUR][1000 genomes]
rs10183150	0.90[EUR][1000 genomes]
rs10186134	0.87[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];0.85[ASN][1000 genomes]
rs1030901	0.93[EUR][1000 genomes]
rs1030902	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10460478	0.86[EUR][1000 genomes]
rs11123824	0.87[EUR][1000 genomes]
rs11123826	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11123827	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1114595	0.86[EUR][1000 genomes]
rs11674569	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11674830	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11675901	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11676282	0.81[EUR][1000 genomes]
rs11678148	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11678158	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11680660	0.94[EUR][1000 genomes]
rs11682557	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11682748	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11683088	0.80[EUR][1000 genomes]
rs11683121	0.86[EUR][1000 genomes]
rs11684004	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11684516	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11685250	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11685406	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11686293	0.87[EUR][1000 genomes]
rs11686649	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11686799	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11686842	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11686880	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11687352	0.86[EUR][1000 genomes]
rs11687865	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11688285	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11689439	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11691135	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11691684	0.89[EUR][1000 genomes]
rs11693044	0.87[EUR][1000 genomes]
rs11693424	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11693471	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11694642	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11694700	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11892034	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11895772	0.85[EUR][1000 genomes]
rs12373827	0.85[EUR][1000 genomes]
rs12615466	0.87[EUR][1000 genomes]
rs12617779	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12618908	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12621892	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12622318	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12712075	0.86[EUR][1000 genomes]
rs12989897	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12990688	0.85[EUR][1000 genomes]
rs12991172	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12991577	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12997725	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12999151	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12999779	0.87[EUR][1000 genomes]
rs13001423	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13006224	0.86[EUR][1000 genomes]
rs13020451	0.87[EUR][1000 genomes]
rs13021801	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13023534	0.86[EUR][1000 genomes]
rs13026570	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13031711	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13031906	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1437967	0.83[EUR][1000 genomes]
rs1437969	0.88[EUR][1000 genomes]
rs1530028	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1530029	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1530030	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1530031	0.94[EUR][1000 genomes]
rs1837143	0.86[EUR][1000 genomes]
rs1866198	0.85[EUR][1000 genomes]
rs1946799	0.81[EUR][1000 genomes]
rs1967339	0.86[EUR][1000 genomes]
rs1967340	0.80[EUR][1000 genomes]
rs1967341	0.86[EUR][1000 genomes]
rs2099611	0.90[EUR][1000 genomes]
rs2164847	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2241809	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2241810	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2241811	0.90[EUR][1000 genomes]
rs2309798	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2309800	0.88[EUR][1000 genomes]
rs2309852	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3748930	0.94[EUR][1000 genomes]
rs3828193	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4149505	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4149507	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4149510	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4149512	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4149513	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4149517	0.90[EUR][1000 genomes]
rs4149518	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4149523	0.89[EUR][1000 genomes]
rs4264577	0.91[EUR][1000 genomes]
rs4340543	0.93[EUR][1000 genomes]
rs4378827	0.89[EUR][1000 genomes]
rs4387816	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4407265	0.88[EUR][1000 genomes]
rs4477940	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4635546	0.84[EUR][1000 genomes]
rs4640404	0.88[EUR][1000 genomes]
rs4850927	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4850929	0.88[EUR][1000 genomes]
rs4850930	0.88[EUR][1000 genomes]
rs4850931	0.94[EUR][1000 genomes]
rs4851288	0.80[EUR][1000 genomes]
rs4851292	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4851293	0.87[EUR][1000 genomes]
rs4851294	0.94[EUR][1000 genomes]
rs4851297	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4851298	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4851300	0.85[ASN][1000 genomes]
rs4851302	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4851303	0.87[EUR][1000 genomes]
rs4851304	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4851305	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4851310	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4851311	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4851312	0.90[EUR][1000 genomes]
rs4851313	0.84[EUR][1000 genomes]
rs62148360	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6542940	0.89[EUR][1000 genomes]
rs6542942	0.92[EUR][1000 genomes]
rs6542944	0.88[EUR][1000 genomes]
rs6542947	0.89[EUR][1000 genomes]
rs6716636	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6725052	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6731549	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6736311	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6737217	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6749018	0.91[EUR][1000 genomes]
rs6754176	0.89[EUR][1000 genomes]
rs6757754	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs74177694	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs74177695	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs74177696	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7425449	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7425797	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7585582	0.89[EUR][1000 genomes]
rs7590388	0.81[EUR][1000 genomes]
rs7597615	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs893416	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs920269	0.85[EUR][1000 genomes]
rs920270	0.84[EUR][1000 genomes]
rs930374	0.87[EUR][1000 genomes]
rs9973536	0.90[EUR][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	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	nsv874701	chr2:100976139-101023261	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:100993200-101017800	Weak transcription	Primary monocytes fromperipheralblood	blood
2	chr2:100998200-101022600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr2:101002000-101023400	Weak transcription	Psoas Muscle	Psoas
4	chr2:101003200-101021000	Weak transcription	K562	blood
5	chr2:101005600-101017600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr2:101005600-101032800	Weak transcription	HUVEC	blood vessel
7	chr2:101005800-101033000	Weak transcription	Duodenum Mucosa	Duodenum
8	chr2:101006000-101021600	Weak transcription	Colon Smooth Muscle	Colon
9	chr2:101006400-101018400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr2:101006600-101023600	Strong transcription	Brain Germinal Matrix	brain
11	chr2:101006600-101031600	Strong transcription	Fetal Stomach	stomach
12	chr2:101007000-101025000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr2:101007000-101027200	Strong transcription	Stomach Smooth Muscle	stomach
14	chr2:101007200-101018600	Weak transcription	Rectal Smooth Muscle	rectum
15	chr2:101007200-101032000	Weak transcription	NHDF-Ad	bronchial
16	chr2:101007400-101021600	Weak transcription	HSMMtube	muscle
17	chr2:101007600-101023400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr2:101007600-101024200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr2:101007600-101030600	Weak transcription	NH-A	brain
20	chr2:101007800-101021200	Weak transcription	Monocytes-CD14+_RO01746	blood
21	chr2:101007800-101023800	Strong transcription	Fetal Muscle Trunk	muscle
22	chr2:101007800-101024000	Weak transcription	Liver	Liver
23	chr2:101008000-101033000	Weak transcription	Primary T cells fromperipheralblood	blood
24	chr2:101008400-101019200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr2:101008400-101025200	Weak transcription	Fetal Brain Male	brain
26	chr2:101009000-101022000	Weak transcription	Esophagus	oesophagus
27	chr2:101009200-101023600	Strong transcription	Cortex derived primary cultured neurospheres	brain
28	chr2:101009400-101026400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr2:101010000-101017600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr2:101010000-101021800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr2:101010000-101022200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr2:101010000-101022200	Weak transcription	Fetal Kidney	kidney
33	chr2:101010200-101018000	Weak transcription	Fetal Thymus	thymus
34	chr2:101010200-101018000	Weak transcription	HepG2	liver
35	chr2:101010200-101032800	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr2:101010800-101022000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr2:101011000-101022200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr2:101011800-101020000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr2:101012000-101024000	Weak transcription	Fetal Heart	heart
40	chr2:101012400-101017600	Weak transcription	A549	lung
41	chr2:101012400-101021600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr2:101012600-101017800	Weak transcription	Primary B cells from cord blood	blood
43	chr2:101012800-101018400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr2:101013000-101021200	Weak transcription	Primary B cells from peripheral blood	blood
45	chr2:101013200-101017400	Weak transcription	Fetal Lung	lung
46	chr2:101013200-101030400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr2:101013200-101033000	Weak transcription	Fetal Intestine Large	intestine
48	chr2:101013600-101017600	Weak transcription	Adipose Nuclei	Adipose
49	chr2:101013600-101020000	Strong transcription	Brain Inferior Temporal Lobe	brain
50	chr2:101013800-101018600	Weak transcription	Thymus	Thymus

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