Variant report

Variant	rs10158508
Chromosome Location	chr1:223968316-223968317
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:223963678..223965636-chr1:223966961..223968490,2	MCF-7	breast:
2	chr1:223888774..223890638-chr1:223967678..223970668,2	K562	blood:

Variant related genes	Relation type
ENSG00000162909	Chromatin interaction

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10158199	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10158843	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10159010	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1153962	1.00[EUR][1000 genomes]
rs1153966	1.00[EUR][1000 genomes]
rs12025911	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12026548	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12027762	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12040996	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12047952	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1222131	1.00[EUR][1000 genomes]
rs12239402	1.00[EUR][1000 genomes]
rs12239445	1.00[EUR][1000 genomes]
rs12239678	1.00[EUR][1000 genomes]
rs13375296	1.00[ASW][hapmap];0.82[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16842078	1.00[EUR][1000 genomes]
rs16842173	0.84[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs16842177	1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs16842201	0.84[ASW][hapmap];0.82[YRI][hapmap];1.00[EUR][1000 genomes]
rs16842217	1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs16842234	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16842259	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16842291	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16842341	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1890119	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2230082	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28370064	1.00[EUR][1000 genomes]
rs28370079	1.00[EUR][1000 genomes]
rs28370099	1.00[EUR][1000 genomes]
rs28370160	1.00[EUR][1000 genomes]
rs28370161	0.84[ASW][hapmap];0.82[YRI][hapmap];1.00[EUR][1000 genomes]
rs28370162	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28458390	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28684725	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41345146	1.00[ASW][hapmap];0.82[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56947789	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57380389	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58753599	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59433589	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59793743	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59948383	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59970447	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73114413	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73125398	1.00[EUR][1000 genomes]
rs73127405	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73127411	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73127438	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73127450	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs747811	1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7515215	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9286986	1.00[EUR][1000 genomes]
rs9970756	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832681	chr1:223698048-224002691	Strong transcription Active TSS Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	esv3361888	chr1:223725597-224114846	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv1007380	chr1:223834380-224042190	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv535310	chr1:223834380-224042190	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	esv34082	chr1:223851018-224144509	Enhancers Genic enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
6	nsv1008800	chr1:223904653-224061032	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
7	esv2757772	chr1:223935220-224363163	Genic enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
8	esv2759000	chr1:223935220-224363163	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:223956600-223968400	Strong transcription	Fetal Brain Female	brain
2	chr1:223956600-223969000	Strong transcription	Cortex derived primary cultured neurospheres	brain
3	chr1:223956600-223969000	Strong transcription	Fetal Stomach	stomach
4	chr1:223956600-224004600	Strong transcription	Primary monocytes fromperipheralblood	blood
5	chr1:223956600-224004600	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr1:223956800-223969000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr1:223956800-223969200	Strong transcription	Placenta	Placenta
8	chr1:223956800-223974200	Strong transcription	Primary T cells from cord blood	blood
9	chr1:223956800-223974200	Strong transcription	Liver	Liver
10	chr1:223957000-223983400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr1:223957200-223968800	Strong transcription	Primary T helper cells fromperipheralblood	blood
12	chr1:223957200-223972800	Strong transcription	Primary B cells from peripheral blood	blood
13	chr1:223959600-223969000	Strong transcription	Skeletal Muscle Female	skeletal muscle
14	chr1:223959800-223977600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
15	chr1:223960000-223968600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr1:223960000-223969000	Strong transcription	Fetal Kidney	kidney
17	chr1:223960000-223972200	Strong transcription	Rectal Mucosa Donor 29	rectum
18	chr1:223960200-223970000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr1:223960200-223971800	Strong transcription	Stomach Smooth Muscle	stomach
20	chr1:223960200-223998600	Strong transcription	Fetal Thymus	thymus
21	chr1:223960200-224025400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr1:223960400-223968800	Strong transcription	Duodenum Smooth Muscle	Duodenum
23	chr1:223960600-223986800	Strong transcription	Primary neutrophils fromperipheralblood	blood
24	chr1:223960600-223995200	Strong transcription	HUES64 Cell Line	embryonic stem cell
25	chr1:223960600-224001400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr1:223960800-223968600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr1:223960800-223995400	Weak transcription	GM12878-XiMat	blood
28	chr1:223961200-223968400	Strong transcription	Fetal Lung	lung
29	chr1:223961400-223968800	Strong transcription	H1 Cell Line	embryonic stem cell
30	chr1:223961400-223969000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr1:223961800-223969000	Strong transcription	Rectal Smooth Muscle	rectum
32	chr1:223961800-223972200	Strong transcription	Dnd41	blood
33	chr1:223961800-223977200	Strong transcription	Duodenum Mucosa	Duodenum
34	chr1:223961800-224004400	Strong transcription	HUES48 Cell Line	embryonic stem cell
35	chr1:223962000-223975000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
36	chr1:223962600-223970600	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr1:223962600-223983600	Weak transcription	Psoas Muscle	Psoas
38	chr1:223962800-223972600	Strong transcription	Primary B cells from cord blood	blood
39	chr1:223963000-223968400	Strong transcription	Skeletal Muscle Male	skeletal muscle
40	chr1:223963200-223969000	Strong transcription	Ovary	ovary
41	chr1:223963400-223983800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
42	chr1:223963600-223968400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr1:223963600-223969000	Strong transcription	H9 Cell Line	embryonic stem cell
44	chr1:223963800-223969200	Strong transcription	Thymus	Thymus
45	chr1:223964000-223972200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr1:223964000-223985600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
47	chr1:223964200-223968800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr1:223964200-223970800	Weak transcription	Colon Smooth Muscle	Colon
49	chr1:223964200-223974200	Strong transcription	Primary T cells fromperipheralblood	blood
50	chr1:223964200-223980000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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