Variant report

Variant	rs4328248
Chromosome Location	chr11:9527875-9527876
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:9515094..9518032-chr11:9527363..9529994,2	K562	blood:
2	chr11:9526683..9529040-chr11:9771305..9773861,2	K562	blood:
3	chr11:9480912..9484218-chr11:9526454..9530428,5	K562	blood:

Variant related genes	Relation type
ENSG00000166478	Chromatin interaction
ENSG00000268403	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11823865	1.00[EUR][1000 genomes]
rs11824009	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11825542	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1865560	1.00[EUR][1000 genomes]
rs34831554	1.00[EUR][1000 genomes]
rs4414214	1.00[AMR][1000 genomes]
rs4910057	1.00[EUR][1000 genomes]
rs57760683	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58608279	1.00[EUR][1000 genomes]
rs59206639	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59403069	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs59432040	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60199973	1.00[EUR][1000 genomes]
rs60748041	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61003414	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61708669	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7107607	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7113100	1.00[EUR][1000 genomes]
rs7115224	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7115556	0.85[AFR][1000 genomes]
rs7119701	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73408245	1.00[EUR][1000 genomes]
rs73408270	1.00[EUR][1000 genomes]
rs73408291	1.00[EUR][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	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
2	nsv427882	chr11:9431600-9626580	Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
3	nsv1039537	chr11:9455387-9535970	Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
4	nsv553467	chr11:9518551-9648721	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
5	esv3437720	chr11:9523876-9528074	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9484600-9544800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr11:9491400-9551600	Strong transcription	Primary neutrophils fromperipheralblood	blood
3	chr11:9496600-9528200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr11:9501800-9534000	Weak transcription	Psoas Muscle	Psoas
5	chr11:9511600-9528200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr11:9511600-9528400	Weak transcription	NHLF	lung
7	chr11:9518600-9530000	Weak transcription	NHEK	skin
8	chr11:9518800-9534000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr11:9519200-9532000	Weak transcription	NHDF-Ad	bronchial
10	chr11:9519200-9534200	Weak transcription	Fetal Brain Female	brain
11	chr11:9520600-9528000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr11:9520600-9530000	Weak transcription	Stomach Mucosa	stomach
13	chr11:9520600-9532200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr11:9520800-9528200	Weak transcription	A549	lung
15	chr11:9521000-9545200	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr11:9521200-9528200	Weak transcription	Brain Cingulate Gyrus	brain
17	chr11:9521600-9532200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr11:9521800-9530200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr11:9522000-9530400	Weak transcription	Primary hematopoietic stem cells	blood
20	chr11:9523000-9534000	Weak transcription	HMEC	breast
21	chr11:9523200-9528000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr11:9523200-9528200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr11:9523200-9530200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr11:9523200-9530200	Weak transcription	HUVEC	blood vessel
25	chr11:9523400-9528000	Weak transcription	Brain Anterior Caudate	brain
26	chr11:9523400-9528000	Weak transcription	Brain Hippocampus Middle	brain
27	chr11:9523400-9528000	Weak transcription	Fetal Kidney	kidney
28	chr11:9523400-9528000	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr11:9523400-9528000	Weak transcription	HepG2	liver
30	chr11:9523400-9528200	Weak transcription	Colon Smooth Muscle	Colon
31	chr11:9523400-9528200	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr11:9523400-9528200	Weak transcription	Fetal Heart	heart
33	chr11:9523400-9528200	Weak transcription	Fetal Lung	lung
34	chr11:9523400-9528200	Weak transcription	Rectal Smooth Muscle	rectum
35	chr11:9523400-9528400	Weak transcription	HSMMtube	muscle
36	chr11:9523400-9528600	Weak transcription	Dnd41	blood
37	chr11:9523400-9528800	Weak transcription	GM12878-XiMat	blood
38	chr11:9523400-9529000	Weak transcription	Primary B cells from cord blood	blood
39	chr11:9523400-9529800	Weak transcription	K562	blood
40	chr11:9523400-9530000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr11:9523400-9530000	Weak transcription	Left Ventricle	heart
42	chr11:9523400-9530200	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr11:9523400-9530200	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr11:9523400-9530200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr11:9523400-9530200	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr11:9523400-9530200	Weak transcription	Esophagus	oesophagus
47	chr11:9523400-9530200	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr11:9523400-9530200	Weak transcription	HSMM	muscle
49	chr11:9523400-9530400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr11:9523400-9530400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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