Variant report

Variant	rs11121581
Chromosome Location	chr1:10577740-10577741
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:10576515..10578710-chr1:10584102..10586640,2	K562	blood:
2	chr1:10566008..10570273-chr1:10573569..10578315,6	K562	blood:
3	chr1:10577532..10580475-chr1:10590665..10593408,2	K562	blood:
4	chr1:10576160..10578872-chr1:10926632..10929593,2	MCF-7	breast:
5	chr1:10576889..10577782-chr1:10961866..10962379,2	MCF-7	breast:
6	chr1:10570193..10573088-chr1:10575798..10579645,3	MCF-7	breast:
7	chr1:10576842..10579451-chr1:11119140..11122030,2	K562	blood:

Variant related genes	Relation type
ENSG00000116649	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10779737	0.90[EUR][1000 genomes]
rs11580264	0.91[EUR][1000 genomes]
rs11584327	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12073943	0.85[EUR][1000 genomes]
rs17035189	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1755592	0.88[EUR][1000 genomes]
rs2186949	0.81[EUR][1000 genomes]
rs2274985	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs589151	0.96[EUR][1000 genomes]
rs602601	0.90[EUR][1000 genomes]
rs604369	0.96[EUR][1000 genomes]
rs604814	0.89[EUR][1000 genomes]
rs7419116	0.91[EUR][1000 genomes]
rs7543322	0.91[EUR][1000 genomes]
rs7548453	0.84[AMR][1000 genomes];0.92[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	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:109 , 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	chr1:10569000-10578800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr1:10569600-10577800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr1:10570800-10579800	Weak transcription	Aorta	Aorta
6	chr1:10570800-10595600	Weak transcription	Primary B cells from cord blood	blood
7	chr1:10571400-10579400	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr1:10571600-10578000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
9	chr1:10571600-10579200	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr1:10571800-10578000	Enhancers	Primary T helper cells fromperipheralblood	blood
11	chr1:10571800-10578600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
12	chr1:10572000-10578200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr1:10572000-10578800	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr1:10572000-10579000	Weak transcription	A549	lung
15	chr1:10572000-10579000	Weak transcription	NH-A	brain
16	chr1:10572000-10590000	Weak transcription	Spleen	Spleen
17	chr1:10572200-10598600	Weak transcription	Brain Anterior Caudate	brain
18	chr1:10572600-10587600	Weak transcription	Hela-S3	cervix
19	chr1:10572600-10587800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr1:10573400-10596000	Weak transcription	Duodenum Mucosa	Duodenum
21	chr1:10573600-10577800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr1:10573800-10578600	Enhancers	GM12878-XiMat	blood
23	chr1:10573800-10588000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr1:10573800-10588200	Weak transcription	Fetal Intestine Large	intestine
25	chr1:10574200-10578200	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr1:10574400-10577800	Enhancers	HepG2	liver
27	chr1:10574400-10578000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr1:10574400-10579800	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr1:10574600-10578800	Weak transcription	Rectal Smooth Muscle	rectum
30	chr1:10574800-10580600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr1:10575000-10578000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr1:10575600-10588000	Weak transcription	NHLF	lung
33	chr1:10575800-10578000	Enhancers	HMEC	breast
34	chr1:10576000-10578800	Weak transcription	HSMMtube	muscle
35	chr1:10576000-10579200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr1:10576000-10579200	Weak transcription	Monocytes-CD14+_RO01746	blood
37	chr1:10576000-10579800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr1:10576000-10581600	Weak transcription	Primary B cells from peripheral blood	blood
39	chr1:10576000-10589200	Weak transcription	Primary monocytes fromperipheralblood	blood
40	chr1:10576200-10578400	Enhancers	Primary T helper cells PMA-I stimulated	--
41	chr1:10576400-10577800	Enhancers	Stomach Mucosa	stomach
42	chr1:10576400-10582000	Weak transcription	Thymus	Thymus
43	chr1:10576400-10582600	Weak transcription	Primary hematopoietic stem cells	blood
44	chr1:10576400-10582600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr1:10576400-10596000	Weak transcription	Dnd41	blood
46	chr1:10576600-10577800	Flanking Active TSS	NHEK	skin
47	chr1:10576600-10578400	Enhancers	Placenta	Placenta
48	chr1:10576600-10579800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr1:10576600-10579800	Enhancers	HUES64 Cell Line	embryonic stem cell
50	chr1:10576800-10578000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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