Variant report

Variant	rs1873130
Chromosome Location	chr11:46557521-46557522
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:46557169..46561355-chr11:46561734..46565230,5	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11038894	0.96[YRI][hapmap];0.92[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs12280028	1.00[YRI][hapmap];0.92[AFR][1000 genomes]
rs12280656	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs12295608	0.92[YRI][hapmap];0.88[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs56977210	0.83[AFR][1000 genomes]
rs6485680	0.96[YRI][hapmap];0.93[AFR][1000 genomes]
rs73466034	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs73466036	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs73467915	0.89[AFR][1000 genomes]
rs7924695	0.83[ASN][1000 genomes]
rs7946094	0.87[AMR][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	nsv1044225	chr11:46472580-46771102	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv541030	chr11:46472580-46771102	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv1046990	chr11:46501436-46669636	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv541031	chr11:46501436-46669636	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv897321	chr11:46515902-46673344	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:46503400-46563000	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr11:46530400-46559000	Weak transcription	Fetal Thymus	thymus
3	chr11:46530400-46561800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr11:46535600-46563200	Weak transcription	Small Intestine	intestine
5	chr11:46535800-46563200	Weak transcription	Pancreas	Pancrea
6	chr11:46536000-46563200	Weak transcription	Fetal Stomach	stomach
7	chr11:46538600-46559400	Weak transcription	Thymus	Thymus
8	chr11:46541400-46563200	Weak transcription	Aorta	Aorta
9	chr11:46543000-46558600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr11:46543400-46558200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr11:46543400-46563200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr11:46543400-46563200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr11:46543400-46563200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr11:46543400-46563400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr11:46543600-46559000	Weak transcription	Hela-S3	cervix
16	chr11:46543600-46561600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr11:46543800-46560400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr11:46543800-46562400	Weak transcription	NH-A	brain
19	chr11:46545000-46563800	Weak transcription	Right Atrium	heart
20	chr11:46545200-46560600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr11:46545200-46561600	Weak transcription	Fetal Brain Female	brain
22	chr11:46545200-46561600	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr11:46545400-46558400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr11:46548800-46560400	Weak transcription	Fetal Intestine Large	intestine
25	chr11:46548800-46561400	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr11:46549600-46559000	Weak transcription	HMEC	breast
27	chr11:46549600-46562400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr11:46549800-46559200	Weak transcription	NHEK	skin
29	chr11:46550000-46561000	Weak transcription	Placenta	Placenta
30	chr11:46550800-46561400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr11:46550800-46561800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr11:46551000-46558000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr11:46551000-46559000	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr11:46551000-46559000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr11:46551000-46561200	Weak transcription	Primary B cells from cord blood	blood
36	chr11:46551000-46562400	Weak transcription	Stomach Smooth Muscle	stomach
37	chr11:46551000-46562600	Weak transcription	Spleen	Spleen
38	chr11:46551200-46557600	Weak transcription	Brain Cingulate Gyrus	brain
39	chr11:46551200-46557800	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr11:46551200-46558400	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr11:46551200-46558400	Weak transcription	HepG2	liver
42	chr11:46551200-46559000	Weak transcription	Dnd41	blood
43	chr11:46551200-46559400	Weak transcription	Liver	Liver
44	chr11:46551200-46560200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr11:46551200-46561200	Weak transcription	Primary neutrophils fromperipheralblood	blood
46	chr11:46551200-46561200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
47	chr11:46551200-46561600	Weak transcription	Primary T cells fromperipheralblood	blood
48	chr11:46551200-46561800	Weak transcription	Primary B cells from peripheral blood	blood
49	chr11:46551200-46563000	Weak transcription	Colonic Mucosa	Colon
50	chr11:46551200-46563200	Weak transcription	Gastric	stomach

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