Variant report

Variant	rs72907072
Chromosome Location	chr11:45181685-45181686
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:45168840..45171324-chr11:45179427..45182574,4	K562	blood:
2	chr11:45176255..45180138-chr11:45180420..45184771,5	MCF-7	breast:
3	chr11:45176699..45178353-chr11:45180660..45182490,2	K562	blood:

Variant related genes	Relation type
ENSG00000019485	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10444286	0.92[ASN][1000 genomes]
rs10769123	0.86[AFR][1000 genomes]
rs10838428	0.86[AFR][1000 genomes]
rs11038339	0.86[AFR][1000 genomes]
rs11038341	0.92[ASN][1000 genomes]
rs55646648	0.81[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv825852	chr11:45141386-45228580	Bivalent/Poised TSS Genic enhancers Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv541025	chr11:45154352-45193352	Weak transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
3	nsv1048493	chr11:45166054-45205695	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:45169800-45188000	Weak transcription	Primary T cells from cord blood	blood
2	chr11:45170000-45190000	Weak transcription	Primary B cells from cord blood	blood
3	chr11:45170400-45185200	Weak transcription	Primary B cells from peripheral blood	blood
4	chr11:45172400-45190000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr11:45175400-45182800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr11:45175600-45186200	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr11:45176000-45184200	Enhancers	Fetal Lung	lung
8	chr11:45176000-45186600	Genic enhancers	Fetal Stomach	stomach
9	chr11:45176200-45181800	Enhancers	Skeletal Muscle Male	skeletal muscle
10	chr11:45176600-45183600	Enhancers	Esophagus	oesophagus
11	chr11:45178200-45183600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr11:45178200-45187600	Enhancers	Fetal Heart	heart
13	chr11:45178400-45181800	Enhancers	Left Ventricle	heart
14	chr11:45178400-45185200	Enhancers	Fetal Muscle Leg	muscle
15	chr11:45178600-45181800	Enhancers	Lung	lung
16	chr11:45178800-45184000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
17	chr11:45178800-45186800	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr11:45179000-45181800	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr11:45179200-45181800	Enhancers	Fetal Muscle Trunk	muscle
20	chr11:45179400-45181800	Enhancers	Psoas Muscle	Psoas
21	chr11:45179400-45184800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr11:45180000-45185000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr11:45180000-45193000	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr11:45180200-45182800	Weak transcription	Gastric	stomach
25	chr11:45180200-45183400	Weak transcription	Fetal Kidney	kidney
26	chr11:45180200-45185400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr11:45180200-45185600	Weak transcription	HMEC	breast
28	chr11:45180400-45182400	Weak transcription	Liver	Liver
29	chr11:45180400-45183000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr11:45180400-45183000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr11:45180400-45183400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr11:45180400-45184600	Weak transcription	Fetal Brain Male	brain
33	chr11:45180400-45185000	Weak transcription	Primary hematopoietic stem cells	blood
34	chr11:45180600-45182600	Weak transcription	Pancreas	Pancrea
35	chr11:45180600-45183400	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr11:45180600-45185800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr11:45180800-45181800	Enhancers	Colon Smooth Muscle	Colon
38	chr11:45180800-45181800	Genic enhancers	Fetal Intestine Small	intestine
39	chr11:45180800-45182200	Weak transcription	Rectal Smooth Muscle	rectum
40	chr11:45180800-45182400	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr11:45180800-45183000	Weak transcription	Colonic Mucosa	Colon
42	chr11:45180800-45183200	Weak transcription	Fetal Brain Female	brain
43	chr11:45180800-45184600	Weak transcription	HSMMtube	muscle
44	chr11:45180800-45185200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr11:45181000-45182200	Weak transcription	Brain Hippocampus Middle	brain
46	chr11:45181000-45182400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr11:45181000-45182600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr11:45181000-45182600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr11:45181000-45183000	Enhancers	Stomach Smooth Muscle	stomach
50	chr11:45181200-45182200	Weak transcription	Brain Cingulate Gyrus	brain

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