Variant report

Variant	rs72859590
Chromosome Location	chr1:10117301-10117302
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:10116180..10118569-chr1:10166668..10168214,2	MCF-7	breast:
2	chr1:10108005..10110082-chr1:10115252..10117547,2	K562	blood:
3	chr1:10116219..10117881-chr1:10119207..10121095,2	K562	blood:
4	chr1:10092221..10094214-chr1:10115683..10118342,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000130939	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11801988	1.00[EUR][1000 genomes]
rs11803995	1.00[EUR][1000 genomes]
rs11808311	1.00[EUR][1000 genomes]
rs28671063	1.00[EUR][1000 genomes]
rs41280788	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56682893	1.00[EUR][1000 genomes]
rs56760324	1.00[EUR][1000 genomes]
rs57216908	1.00[EUR][1000 genomes]
rs58453167	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs61134758	0.94[EUR][1000 genomes]
rs61462323	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6676768	0.84[EUR][1000 genomes]
rs6693686	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6701103	1.00[EUR][1000 genomes]
rs72861412	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72861431	0.98[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72861447	1.00[EUR][1000 genomes]
rs72861453	1.00[EUR][1000 genomes]
rs9661116	1.00[EUR][1000 genomes]
rs9661131	1.00[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	esv3417409	chr1:9683992-10241703	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	nsv1012469	chr1:9925714-10147796	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv1012301	chr1:9963962-10118393	Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv534853	chr1:9963962-10118393	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	nsv527217	chr1:10093457-10257167	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:10094800-10119400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:10095000-10127800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr1:10095000-10147600	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr1:10095200-10134400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr1:10098800-10131200	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr1:10106400-10134000	Weak transcription	Colonic Mucosa	Colon
7	chr1:10106800-10118000	Weak transcription	Fetal Kidney	kidney
8	chr1:10106800-10128400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr1:10106800-10134200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr1:10106800-10155400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr1:10107000-10117600	Weak transcription	Aorta	Aorta
12	chr1:10107000-10118600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr1:10107000-10125200	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr1:10107000-10125200	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr1:10107000-10125400	Weak transcription	Small Intestine	intestine
16	chr1:10107000-10140600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr1:10107200-10118600	Weak transcription	Spleen	Spleen
18	chr1:10107200-10118800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr1:10107200-10124000	Weak transcription	Fetal Brain Female	brain
20	chr1:10107200-10125200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr1:10107200-10125200	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr1:10107400-10124000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr1:10107400-10124200	Strong transcription	Fetal Intestine Small	intestine
24	chr1:10107400-10125200	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr1:10107400-10125400	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr1:10107400-10135200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr1:10107400-10165400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr1:10107600-10118000	Weak transcription	Esophagus	oesophagus
29	chr1:10107600-10125400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr1:10109000-10126400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr1:10109400-10158400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr1:10111200-10118200	Weak transcription	Fetal Thymus	thymus
33	chr1:10111400-10118600	Weak transcription	Fetal Muscle Trunk	muscle
34	chr1:10111400-10125200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr1:10111400-10127000	Weak transcription	Fetal Lung	lung
36	chr1:10111600-10117400	Weak transcription	Dnd41	blood
37	chr1:10111800-10117800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr1:10111800-10117800	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr1:10111800-10118600	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr1:10111800-10118800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr1:10112000-10118000	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr1:10112200-10118400	Weak transcription	Primary T helper cells PMA-I stimulated	--
43	chr1:10112800-10117800	Weak transcription	Left Ventricle	heart
44	chr1:10113000-10117600	Weak transcription	Primary T cells fromperipheralblood	blood
45	chr1:10113000-10117600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr1:10113000-10117600	Weak transcription	Fetal Heart	heart
47	chr1:10113000-10117800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr1:10113000-10118000	Weak transcription	Primary B cells from peripheral blood	blood
49	chr1:10113000-10124000	Weak transcription	Primary hematopoietic stem cells	blood
50	chr1:10113000-10132000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood

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