Variant report

Variant	rs1874821
Chromosome Location	chr11:9283617-9283618
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:9280283..9284052-chr11:9480147..9483704,4	K562	blood:
2	chr11:9280208..9281989-chr11:9282127..9285333,4	K562	blood:
3	chr11:9282323..9285944-chr11:9290054..9293255,4	K562	blood:
4	chr11:9283600..9286553-chr11:9290163..9293255,5	K562	blood:
5	chr11:9280208..9283661-chr11:9285464..9288886,5	K562	blood:

Variant related genes	Relation type
ENSG00000268403	Chromatin interaction
ENSG00000166478	Chromatin interaction
ENSG00000184014	Chromatin interaction

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10743100	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10743102	1.00[EUR][1000 genomes]
rs10743103	1.00[EUR][1000 genomes]
rs10840197	1.00[EUR][1000 genomes]
rs10840198	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11042254	1.00[EUR][1000 genomes]
rs12225143	1.00[EUR][1000 genomes]
rs1809855	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2016375	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4243946	1.00[EUR][1000 genomes]
rs4331093	1.00[EUR][1000 genomes]
rs4372456	1.00[AMR][1000 genomes]
rs4414214	1.00[EUR][1000 genomes]
rs4420271	1.00[EUR][1000 genomes]
rs4450172	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4589301	1.00[EUR][1000 genomes]
rs4601780	1.00[EUR][1000 genomes]
rs4625467	1.00[EUR][1000 genomes]
rs4644643	1.00[EUR][1000 genomes]
rs4910448	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56306422	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57052969	1.00[EUR][1000 genomes]
rs57655359	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58309260	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58361373	1.00[EUR][1000 genomes]
rs58795427	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59398820	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59400072	1.00[EUR][1000 genomes]
rs59618374	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59984721	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60542289	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60602151	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60731772	1.00[EUR][1000 genomes]
rs60960132	1.00[EUR][1000 genomes]
rs61217844	1.00[EUR][1000 genomes]
rs61379640	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61409427	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6486149	1.00[EUR][1000 genomes]
rs7119158	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73402319	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73402323	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73402339	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73402344	1.00[EUR][1000 genomes]
rs73402346	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73402362	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73402399	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73404303	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73404305	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73412019	1.00[EUR][1000 genomes]
rs73412032	1.00[EUR][1000 genomes]
rs73412059	1.00[AMR][1000 genomes]
rs73416044	1.00[EUR][1000 genomes]
rs73416046	1.00[EUR][1000 genomes]
rs73416057	1.00[EUR][1000 genomes]
rs7931491	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7932136	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7932954	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7935518	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7935573	1.00[AMR][1000 genomes]
rs7942119	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7944130	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7944713	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7948651	1.00[AMR][1000 genomes];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	esv3413845	chr11:8887279-9285127	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	esv33264	chr11:9007612-9311131	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1040049	chr11:9152536-9363488	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	nsv916534	chr11:9188436-9516241	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
5	nsv1053045	chr11:9208881-9363488	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats 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	21 gene(s)	inside rSNPs	diseases
6	nsv540947	chr11:9208881-9363488	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
7	nsv1055078	chr11:9252857-9538877	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
8	nsv515891	chr11:9275898-9334961	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9253000-9285600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr11:9257000-9284800	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr11:9257200-9285600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr11:9261800-9285600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr11:9264000-9284600	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr11:9264200-9285400	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr11:9265600-9284600	Weak transcription	Brain Germinal Matrix	brain
8	chr11:9267800-9285600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr11:9270200-9284800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr11:9272000-9284600	Weak transcription	Fetal Brain Female	brain
11	chr11:9272000-9285400	Weak transcription	HSMMtube	muscle
12	chr11:9272600-9285600	Weak transcription	Small Intestine	intestine
13	chr11:9273200-9285400	Weak transcription	K562	blood
14	chr11:9274600-9285400	Weak transcription	Fetal Intestine Large	intestine
15	chr11:9275200-9285400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr11:9277600-9285400	Weak transcription	Fetal Intestine Small	intestine
17	chr11:9278400-9284000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr11:9278400-9285400	Weak transcription	Rectal Smooth Muscle	rectum
19	chr11:9278600-9285400	Weak transcription	NHEK	skin
20	chr11:9279200-9285400	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr11:9280400-9284000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr11:9280400-9284800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr11:9280400-9285400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr11:9281200-9283800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr11:9281200-9284200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
26	chr11:9281200-9284200	Enhancers	Brain Substantia Nigra	brain
27	chr11:9281200-9284800	Enhancers	Primary T helper naive cells from peripheral blood	blood
28	chr11:9281200-9284800	Enhancers	Brain Hippocampus Middle	brain
29	chr11:9281200-9285000	Enhancers	Brain Cingulate Gyrus	brain
30	chr11:9281200-9285200	Enhancers	Fetal Heart	heart
31	chr11:9281200-9285400	Enhancers	Primary B cells from cord blood	blood
32	chr11:9281200-9285400	Enhancers	Primary T helper cells PMA-I stimulated	--
33	chr11:9281200-9285400	Enhancers	Primary T helper cells fromperipheralblood	blood
34	chr11:9281400-9284200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
35	chr11:9281400-9284600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr11:9281400-9284800	Enhancers	Primary hematopoietic stem cells short term culture	blood
37	chr11:9281400-9285200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
38	chr11:9281400-9285600	Weak transcription	Pancreas	Pancrea
39	chr11:9281600-9283800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr11:9281600-9284000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr11:9281600-9284000	Enhancers	Hela-S3	cervix
42	chr11:9281600-9284200	Enhancers	Primary neutrophils fromperipheralblood	blood
43	chr11:9281600-9284200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr11:9281600-9284200	Enhancers	Osteobl	bone
45	chr11:9281600-9284800	Enhancers	Muscle Satellite Cultured Cells	--
46	chr11:9281600-9285000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
47	chr11:9281600-9285200	Enhancers	A549	lung
48	chr11:9281800-9285400	Enhancers	Primary hematopoietic stem cells	blood
49	chr11:9282000-9284000	Enhancers	HepG2	liver
50	chr11:9282000-9284200	Enhancers	NHLF	lung

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