Variant report

Variant	rs11587326
Chromosome Location	chr1:10574677-10574678
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:10533965..10535483-chr1:10572998..10574939,2	K562	blood:
2	chr1:10573337..10575488-chr1:10723481..10725688,2	K562	blood:
3	chr1:10574200..10574765-chr1:10689892..10690713,2	MCF-7	breast:
4	chr1:10574408..10575004-chr1:10926842..10927727,2	K562	blood:
5	chr1:10566008..10570273-chr1:10573569..10578315,6	K562	blood:
6	chr1:10569482..10571483-chr1:10572910..10575292,2	MCF-7	breast:
7	chr1:10571375..10572978-chr1:10573706..10575534,2	K562	blood:
8	chr1:10545220..10547716-chr1:10573359..10575513,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000142655	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10864462	0.98[EUR][1000 genomes]
rs11121582	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs11121583	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes]
rs11121592	0.85[EUR][1000 genomes]
rs11580310	0.95[EUR][1000 genomes]
rs11585463	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11588374	0.88[EUR][1000 genomes]
rs11588734	1.00[ASW][hapmap];0.93[CEU][hapmap];1.00[MEX][hapmap]
rs12063765	0.98[EUR][1000 genomes]
rs12075572	0.94[EUR][1000 genomes]
rs12077637	0.92[EUR][1000 genomes]
rs12083820	0.94[CEU][hapmap];0.92[EUR][1000 genomes]
rs12738718	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs1411401	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes]
rs17412703	1.00[GIH][hapmap];1.00[MEX][hapmap]
rs34106242	0.98[EUR][1000 genomes]
rs34697250	0.94[EUR][1000 genomes]
rs6702343	0.94[EUR][1000 genomes]
rs7552996	0.94[CEU][hapmap];0.84[GIH][hapmap];1.00[TSI][hapmap]

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	esv2757722	chr1:10238070-10582554	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	esv2758920	chr1:10238070-10582554	Strong transcription Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv817370	chr1:10305470-10697150	Weak transcription Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv1008021	chr1:10363794-10802633	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
5	esv2764192	chr1:10383734-10594186	Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv1003498	chr1:10445928-10607351	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
7	nsv998731	chr1:10464176-10607351	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
8	nsv2521	chr1:10553530-10598171	Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:10566400-10577800	Enhancers	Fetal Thymus	thymus
2	chr1:10566800-10579800	Enhancers	Liver	Liver
3	chr1:10568800-10576600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr1:10569000-10578800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr1:10569600-10577800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr1:10569800-10575000	Weak transcription	Fetal Muscle Trunk	muscle
7	chr1:10570800-10579800	Weak transcription	Aorta	Aorta
8	chr1:10570800-10595600	Weak transcription	Primary B cells from cord blood	blood
9	chr1:10571000-10574800	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr1:10571000-10574800	Weak transcription	Brain Germinal Matrix	brain
11	chr1:10571000-10576000	Weak transcription	Brain Hippocampus Middle	brain
12	chr1:10571000-10576600	Weak transcription	Placenta	Placenta
13	chr1:10571000-10577000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr1:10571000-10577000	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr1:10571200-10574800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr1:10571200-10575800	Weak transcription	Pancreas	Pancrea
17	chr1:10571200-10576400	Weak transcription	Gastric	stomach
18	chr1:10571400-10579400	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr1:10571600-10575800	Weak transcription	Stomach Mucosa	stomach
20	chr1:10571600-10576400	Enhancers	Primary hematopoietic stem cells	blood
21	chr1:10571600-10576800	Weak transcription	Small Intestine	intestine
22	chr1:10571600-10578000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
23	chr1:10571600-10579200	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr1:10571800-10574800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr1:10571800-10575600	Weak transcription	Primary monocytes fromperipheralblood	blood
26	chr1:10571800-10575600	Weak transcription	Monocytes-CD14+_RO01746	blood
27	chr1:10571800-10576000	Weak transcription	Adipose Nuclei	Adipose
28	chr1:10571800-10576400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr1:10571800-10576600	Enhancers	Primary T cells from cord blood	blood
30	chr1:10571800-10576600	Weak transcription	Right Ventricle	heart
31	chr1:10571800-10576800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr1:10571800-10577000	Weak transcription	Right Atrium	heart
33	chr1:10571800-10577200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
34	chr1:10571800-10577400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
35	chr1:10571800-10577400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr1:10571800-10577400	Enhancers	Primary T killer memory cells from peripheral blood	blood
37	chr1:10571800-10578000	Enhancers	Primary T helper cells fromperipheralblood	blood
38	chr1:10571800-10578600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
39	chr1:10572000-10574800	Weak transcription	Colon Smooth Muscle	Colon
40	chr1:10572000-10574800	Weak transcription	HSMMtube	muscle
41	chr1:10572000-10575400	Weak transcription	Primary B cells from peripheral blood	blood
42	chr1:10572000-10575600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr1:10572000-10575800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr1:10572000-10576600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr1:10572000-10576800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
46	chr1:10572000-10577000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
47	chr1:10572000-10577200	Enhancers	Primary T helper naive cells from peripheral blood	blood
48	chr1:10572000-10577400	Enhancers	Primary T cells fromperipheralblood	blood
49	chr1:10572000-10578200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
50	chr1:10572000-10578800	Weak transcription	Rectal Mucosa Donor 31	rectum

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