Variant report

Variant	rs1216790
Chromosome Location	chr1:113588161-113588162
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:113582748..113584867-chr1:113586962..113588673,2	K562	blood:
2	chr1:113577576..113579367-chr1:113585664..113588475,2	K562	blood:

Extended variants
information (count: 90 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs11102573	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11102574	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11102575	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11102576	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11102577	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11102578	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11102579	0.87[ASN][1000 genomes]
rs11584099	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11584535	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11588345	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11590170	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11590174	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12066274	0.84[AMR][1000 genomes]
rs12128904	0.82[ASN][1000 genomes]
rs12129863	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12140104	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1216760	0.89[ASN][1000 genomes]
rs1216762	0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs1216763	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs1216766	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1216772	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1216773	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1216775	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1216779	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1216780	0.81[ASN][1000 genomes]
rs1216781	0.86[ASN][1000 genomes]
rs1216783	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1216784	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1216785	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12184285	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12354228	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12740564	0.80[EUR][1000 genomes]
rs12745675	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12746771	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1419136	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1544227	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1626085	0.88[ASN][1000 genomes]
rs1627925	0.81[ASN][1000 genomes]
rs17014850	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17030901	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17030905	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1728218	0.81[ASN][1000 genomes]
rs1728219	0.81[ASN][1000 genomes]
rs1728230	0.88[ASN][1000 genomes]
rs1728232	0.81[ASN][1000 genomes]
rs1766862	0.85[ASN][1000 genomes]
rs1766866	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1778015	0.87[ASN][1000 genomes]
rs1778024	0.86[ASN][1000 genomes]
rs1778025	0.86[ASN][1000 genomes]
rs1778028	0.81[ASN][1000 genomes]
rs2798686	0.88[ASN][1000 genomes]
rs2798687	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2798689	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2798691	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2798692	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2950632	0.85[EUR][1000 genomes]
rs34233065	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34565381	0.83[AMR][1000 genomes]
rs3889656	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3951437	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4025965	0.85[ASN][1000 genomes]
rs4838975	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55894203	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61818171	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61818172	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61818173	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61818174	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61818176	0.81[ASN][1000 genomes]
rs6656041	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6656311	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72683488	0.87[ASN][1000 genomes]
rs773440	0.83[EUR][1000 genomes]
rs9429508	0.88[EUR][1000 genomes]
rs9429509	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9429713	0.92[EUR][1000 genomes]
rs9787311	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002971	chr1:112924725-113740584	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
2	nsv535059	chr1:112924725-113740584	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
3	nsv1010276	chr1:113123932-113740584	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	158 gene(s)	inside rSNPs	diseases
4	nsv533295	chr1:113167645-113589588	Flanking Active TSS Active TSS Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
5	nsv1012119	chr1:113214869-113759081	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
6	nsv535060	chr1:113214869-113759081	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
7	nsv529238	chr1:113229946-113759080	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
8	nsv997426	chr1:113288282-113639507	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
9	nsv999915	chr1:113360145-113684833	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
10	esv18293	chr1:113375437-113852815	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
11	nsv1007045	chr1:113425222-113839910	Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
12	nsv946146	chr1:113567302-113640814	Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
13	nsv427719	chr1:113570229-114078388	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:113580200-113589200	Weak transcription	Right Atrium	heart
2	chr1:113584800-113589400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr1:113585000-113591000	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr1:113585400-113588800	Weak transcription	Primary T cells from cord blood	blood
5	chr1:113585400-113588800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr1:113585400-113588800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr1:113585400-113589200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr1:113585600-113588400	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr1:113585600-113588800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr1:113585600-113588800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr1:113585600-113599200	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr1:113585600-113601800	Weak transcription	Fetal Stomach	stomach
13	chr1:113585800-113588800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr1:113585800-113588800	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr1:113585800-113588800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr1:113586000-113588400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr1:113586000-113588800	Weak transcription	Primary B cells from cord blood	blood
18	chr1:113586000-113589000	Enhancers	Monocytes-CD14+_RO01746	blood
19	chr1:113586000-113589200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr1:113586200-113588800	Weak transcription	Primary hematopoietic stem cells	blood
21	chr1:113586200-113589200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr1:113586600-113588800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr1:113586600-113588800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr1:113586600-113589200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr1:113586600-113589200	Weak transcription	Duodenum Mucosa	Duodenum
26	chr1:113586600-113589200	Weak transcription	K562	blood
27	chr1:113586600-113599600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr1:113586800-113589200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr1:113586800-113589200	Weak transcription	GM12878-XiMat	blood
30	chr1:113586800-113589800	Weak transcription	Fetal Intestine Large	intestine
31	chr1:113586800-113589800	Weak transcription	Fetal Intestine Small	intestine
32	chr1:113586800-113590400	Weak transcription	HepG2	liver
33	chr1:113586800-113590600	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr1:113587000-113588800	Enhancers	Primary neutrophils fromperipheralblood	blood
35	chr1:113587000-113588800	Weak transcription	Fetal Thymus	thymus
36	chr1:113587400-113589000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr1:113587400-113589200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr1:113587400-113589200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr1:113587400-113599600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr1:113587600-113589000	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr1:113587600-113589400	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr1:113587600-113590200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
43	chr1:113587800-113589000	Enhancers	Dnd41	blood
44	chr1:113587800-113589200	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr1:113587800-113589200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr1:113587800-113589200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr1:113587800-113590200	Enhancers	Primary T cells fromperipheralblood	blood
48	chr1:113588000-113589000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr1:113588000-113589200	Weak transcription	H1 Cell Line	embryonic stem cell
50	chr1:113588000-113589200	Weak transcription	HUES6 Cell Line	embryonic stem cell

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