Variant report

Variant	rs12991577
Chromosome Location	chr2:101010867-101010868
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:101003802..101007409-chr2:101009327..101011119,3	K562	blood:
2	chr2:101010642..101012389-chr2:101013948..101015524,2	K562	blood:
3	chr2:101004553..101007119-chr2:101009350..101012727,3	K562	blood:

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

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

rs_ID	r²[population]
rs10048665	0.92[EUR][1000 genomes]
rs10174145	0.94[EUR][1000 genomes]
rs10180423	0.86[EUR][1000 genomes]
rs10182399	0.94[EUR][1000 genomes]
rs10183150	0.91[EUR][1000 genomes]
rs10186134	0.88[EUR][1000 genomes]
rs10193204	0.94[EUR][1000 genomes]
rs10194210	0.86[EUR][1000 genomes]
rs10195793	0.87[EUR][1000 genomes]
rs10202326	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1030901	0.94[EUR][1000 genomes]
rs1030902	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10460478	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11123824	0.88[EUR][1000 genomes]
rs11123826	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11123827	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1114595	0.87[EUR][1000 genomes]
rs11674569	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11674830	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11675901	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11678148	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11678158	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11680660	0.95[EUR][1000 genomes]
rs11682557	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11682748	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11683088	0.81[EUR][1000 genomes]
rs11683121	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11684004	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11684516	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11685250	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11685406	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11686293	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11686649	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11686799	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11686842	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11686880	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11687352	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11687864	0.82[ASN][1000 genomes]
rs11687865	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11688285	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11689439	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11691135	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11691684	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11693044	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11693424	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11693471	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11694642	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11694700	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11892034	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11895772	0.86[EUR][1000 genomes]
rs12373827	0.86[EUR][1000 genomes]
rs12615466	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12617779	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12618908	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12621892	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12622318	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12712075	0.87[EUR][1000 genomes]
rs12989897	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12990688	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12991172	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12997725	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12999151	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12999779	0.88[EUR][1000 genomes]
rs13001423	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13006224	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13020451	0.88[EUR][1000 genomes]
rs13021801	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13023534	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13026570	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13031711	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13031906	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1437967	0.84[EUR][1000 genomes]
rs1437969	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1530028	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1530029	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1530030	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1530031	0.95[EUR][1000 genomes]
rs1811415	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1837143	0.87[EUR][1000 genomes]
rs1866198	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1946799	0.82[EUR][1000 genomes]
rs1967339	0.87[EUR][1000 genomes]
rs1967340	0.81[EUR][1000 genomes]
rs1967341	0.87[EUR][1000 genomes]
rs2099611	0.90[EUR][1000 genomes]
rs2164847	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2241809	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2241810	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2241811	0.91[EUR][1000 genomes]
rs2309798	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2309800	0.88[EUR][1000 genomes]
rs2309852	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3748930	0.95[EUR][1000 genomes]
rs3828193	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4149505	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4149507	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4149510	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4149512	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4149513	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4149517	0.91[EUR][1000 genomes]
rs4149518	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4149523	0.90[EUR][1000 genomes]
rs4264577	0.92[EUR][1000 genomes]
rs4340543	0.94[EUR][1000 genomes]
rs4378827	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4387816	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4407265	0.88[EUR][1000 genomes]
rs4477940	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4635546	0.85[EUR][1000 genomes]
rs4640404	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4850927	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4850929	0.89[EUR][1000 genomes]
rs4850930	0.89[EUR][1000 genomes]
rs4850931	0.95[EUR][1000 genomes]
rs4851288	0.81[EUR][1000 genomes]
rs4851292	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4851293	0.88[EUR][1000 genomes]
rs4851294	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4851297	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4851298	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4851300	0.95[ASN][1000 genomes]
rs4851302	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4851303	0.88[EUR][1000 genomes]
rs4851304	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4851305	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4851310	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4851311	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4851312	0.91[EUR][1000 genomes]
rs4851313	0.85[EUR][1000 genomes]
rs62148360	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6542940	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6542942	0.93[EUR][1000 genomes]
rs6542944	0.89[EUR][1000 genomes]
rs6542947	0.90[EUR][1000 genomes]
rs6716636	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6725052	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6731549	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6736311	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6737217	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6749018	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6754176	0.90[EUR][1000 genomes]
rs6757754	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs74177694	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs74177695	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs74177696	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7425449	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7425797	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7585582	0.90[EUR][1000 genomes]
rs7590388	0.82[EUR][1000 genomes]
rs7597615	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs893416	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs920269	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs920270	0.85[EUR][1000 genomes]
rs930374	0.88[EUR][1000 genomes]
rs9973536	0.91[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:97 , 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	chr2:101002400-101012000	Weak transcription	Primary hematopoietic stem cells	blood
5	chr2:101003200-101021000	Weak transcription	K562	blood
6	chr2:101005200-101015000	Strong transcription	Fetal Brain Female	brain
7	chr2:101005600-101017600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr2:101005600-101032800	Weak transcription	HUVEC	blood vessel
9	chr2:101005800-101033000	Weak transcription	Duodenum Mucosa	Duodenum
10	chr2:101006000-101021600	Weak transcription	Colon Smooth Muscle	Colon
11	chr2:101006400-101018400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr2:101006600-101023600	Strong transcription	Brain Germinal Matrix	brain
13	chr2:101006600-101031600	Strong transcription	Fetal Stomach	stomach
14	chr2:101006800-101014800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr2:101007000-101025000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr2:101007000-101027200	Strong transcription	Stomach Smooth Muscle	stomach
17	chr2:101007200-101011200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
18	chr2:101007200-101015400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr2:101007200-101018600	Weak transcription	Rectal Smooth Muscle	rectum
20	chr2:101007200-101032000	Weak transcription	NHDF-Ad	bronchial
21	chr2:101007400-101011800	Weak transcription	Fetal Intestine Large	intestine
22	chr2:101007400-101014600	Strong transcription	Brain Cingulate Gyrus	brain
23	chr2:101007400-101014800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr2:101007400-101021600	Weak transcription	HSMMtube	muscle
25	chr2:101007600-101012800	Strong transcription	H9 Cell Line	embryonic stem cell
26	chr2:101007600-101013600	Strong transcription	Adipose Nuclei	Adipose
27	chr2:101007600-101013800	Strong transcription	Thymus	Thymus
28	chr2:101007600-101014800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr2:101007600-101014800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr2:101007600-101014800	Strong transcription	Fetal Intestine Small	intestine
31	chr2:101007600-101015000	Strong transcription	Skeletal Muscle Male	skeletal muscle
32	chr2:101007600-101015400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
33	chr2:101007600-101023400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr2:101007600-101024200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr2:101007600-101030600	Weak transcription	NH-A	brain
36	chr2:101007800-101014400	Strong transcription	Skeletal Muscle Female	skeletal muscle
37	chr2:101007800-101014800	Strong transcription	Brain Anterior Caudate	brain
38	chr2:101007800-101014800	Strong transcription	Ovary	ovary
39	chr2:101007800-101015000	Strong transcription	Fetal Muscle Leg	muscle
40	chr2:101007800-101021200	Weak transcription	Monocytes-CD14+_RO01746	blood
41	chr2:101007800-101023800	Strong transcription	Fetal Muscle Trunk	muscle
42	chr2:101007800-101024000	Weak transcription	Liver	Liver
43	chr2:101008000-101011000	Strong transcription	Fetal Lung	lung
44	chr2:101008000-101013800	Strong transcription	Primary T cells from cord blood	blood
45	chr2:101008000-101014000	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr2:101008000-101014600	Strong transcription	H1 Cell Line	embryonic stem cell
47	chr2:101008000-101014600	Strong transcription	HUES48 Cell Line	embryonic stem cell
48	chr2:101008000-101033000	Weak transcription	Primary T cells fromperipheralblood	blood
49	chr2:101008200-101012600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr2:101008200-101012800	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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