Variant report

Variant	rs11121575
Chromosome Location	chr1:10536844-10536845
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:10456887..10459867-chr1:10534957..10536960,2	K562	blood:
2	chr1:10536268..10539627-chr1:10553457..10556201,3	K562	blood:
3	chr1:10528950..10534210-chr1:10534257..10537658,6	K562	blood:
4	chr1:10457843..10460253-chr1:10533493..10537083,3	MCF-7	breast:
5	chr1:10508871..10511200-chr1:10534992..10537583,2	K562	blood:

Variant related genes	Relation type
ENSG00000142657	Chromatin interaction
ENSG00000241563	Chromatin interaction
ENSG00000160049	Chromatin interaction
ENSG00000142655	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11121574	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11121576	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11121578	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6667629	0.80[AFR][1000 genomes]
rs7520077	0.91[AFR][1000 genomes]
rs7532322	0.91[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:10535600-10537000	Flanking Active TSS	Liver	Liver
2	chr1:10535800-10537000	Enhancers	Sigmoid Colon	Sigmoid Colon
3	chr1:10535800-10537200	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr1:10535800-10555000	Weak transcription	Aorta	Aorta
5	chr1:10536000-10537000	Enhancers	Small Intestine	intestine
6	chr1:10536000-10537200	Enhancers	Primary T cells fromperipheralblood	blood
7	chr1:10536000-10537200	Flanking Active TSS	HepG2	liver
8	chr1:10536000-10537400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr1:10536000-10539200	Weak transcription	Lung	lung
10	chr1:10536000-10544800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr1:10536000-10548200	Weak transcription	Ovary	ovary
12	chr1:10536000-10549800	Weak transcription	Gastric	stomach
13	chr1:10536000-10549800	Weak transcription	Left Ventricle	heart
14	chr1:10536000-10550200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr1:10536000-10555000	Weak transcription	Esophagus	oesophagus
16	chr1:10536000-10555000	Weak transcription	HSMMtube	muscle
17	chr1:10536000-10555600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr1:10536200-10537000	Enhancers	Primary T helper naive cells from peripheral blood	blood
19	chr1:10536200-10537000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
20	chr1:10536200-10537000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr1:10536200-10537000	Enhancers	Colon Smooth Muscle	Colon
22	chr1:10536200-10537000	Enhancers	Fetal Muscle Leg	muscle
23	chr1:10536200-10537000	Enhancers	Fetal Thymus	thymus
24	chr1:10536200-10537800	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr1:10536200-10538000	Enhancers	Adipose Nuclei	Adipose
26	chr1:10536200-10544400	Weak transcription	Primary neutrophils fromperipheralblood	blood
27	chr1:10536200-10544800	Weak transcription	Osteobl	bone
28	chr1:10536200-10555000	Weak transcription	NH-A	brain
29	chr1:10536400-10537000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
30	chr1:10536400-10537000	Enhancers	Stomach Smooth Muscle	stomach
31	chr1:10536400-10537200	Enhancers	Monocytes-CD14+_RO01746	blood
32	chr1:10536400-10537600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
33	chr1:10536400-10537600	Enhancers	Primary T helper cells PMA-I stimulated	--
34	chr1:10536400-10537800	Enhancers	Fetal Intestine Large	intestine
35	chr1:10536400-10538200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr1:10536400-10539200	Weak transcription	Primary T cells from cord blood	blood
37	chr1:10536400-10541400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr1:10536400-10541600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr1:10536400-10544200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr1:10536400-10549400	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr1:10536400-10549400	Weak transcription	A549	lung
42	chr1:10536400-10549600	Weak transcription	Brain Cingulate Gyrus	brain
43	chr1:10536400-10549800	Weak transcription	Primary B cells from cord blood	blood
44	chr1:10536400-10550000	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr1:10536400-10550000	Weak transcription	Brain Germinal Matrix	brain
46	chr1:10536400-10553000	Weak transcription	Psoas Muscle	Psoas
47	chr1:10536400-10554000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr1:10536400-10554600	Weak transcription	Rectal Smooth Muscle	rectum
49	chr1:10536400-10554800	Weak transcription	Primary hematopoietic stem cells	blood
50	chr1:10536400-10554800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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