Variant report

Variant	rs59376886
Chromosome Location	chr11:73046562-73046563
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:73006175..73007098-chr11:73046057..73046907,3	K562	blood:
2	chr11:73018112..73018964-chr11:73045938..73047172,9	K562	blood:
3	chr11:73044977..73046880-chr11:73100107..73101964,2	K562	blood:
4	chr11:73046247..73049825-chr11:73086101..73089098,3	MCF-7	breast:
5	chr11:73005626..73007527-chr11:73045532..73047567,16	MCF-7	breast:
6	chr11:73002634..73004263-chr11:73044933..73046630,2	MCF-7	breast:
7	chr11:73017966..73018926-chr11:73046011..73047270,11	MCF-7	breast:
8	chr11:73017965..73019018-chr11:73046229..73047203,8	MCF-7	breast:
9	chr11:72542031..72542597-chr11:73046223..73046769,2	K562	blood:
10	chr11:73021560..73022793-chr11:73046129..73047122,3	K562	blood:
11	chr11:73006178..73007393-chr11:73046271..73047076,4	MCF-7	breast:
12	chr11:73041736..73046932-chr11:73048658..73054905,8	K562	blood:
13	chr11:73013244..73016848-chr11:73045967..73048517,3	MCF-7	breast:
14	chr11:73045859..73047367-chr11:73050454..73052611,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000171631	Chromatin interaction
ENSG00000110237	Chromatin interaction
ENSG00000054967	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs3933402	1.00[ASN][1000 genomes]
rs57727431	0.91[ASN][1000 genomes]
rs57792931	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs57860998	1.00[ASN][1000 genomes]
rs60038108	0.91[ASN][1000 genomes]
rs60436721	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61218298	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7102197	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7102423	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7113420	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7123300	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7342152	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7937210	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs947836	0.93[AMR][1000 genomes];1.00[ASN][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	nsv832208	chr11:72876184-73091003	Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
2	esv1821041	chr11:72937162-73113080	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
3	nsv520665	chr11:72999221-73061856	Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv825993	chr11:73029209-73091929	Active TSS Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
5	nsv897911	chr11:73044351-73108276	Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73038000-73047000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr11:73038600-73047000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr11:73038800-73047000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr11:73040400-73046800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr11:73040600-73047000	Enhancers	NHDF-Ad	bronchial
6	chr11:73040800-73047000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr11:73040800-73047000	Enhancers	Fetal Kidney	kidney
8	chr11:73040800-73047200	Enhancers	Fetal Heart	heart
9	chr11:73041000-73046600	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr11:73041000-73047000	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr11:73041000-73047000	Enhancers	Muscle Satellite Cultured Cells	--
12	chr11:73041400-73047000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr11:73041400-73047000	Enhancers	Fetal Muscle Leg	muscle
14	chr11:73041400-73047000	Enhancers	Placenta	Placenta
15	chr11:73041600-73046600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr11:73041600-73046800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr11:73041600-73047000	Enhancers	Right Ventricle	heart
18	chr11:73041600-73047000	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr11:73041800-73046600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr11:73042000-73047000	Genic enhancers	Fetal Stomach	stomach
21	chr11:73042400-73047000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr11:73042400-73047000	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
23	chr11:73042600-73047000	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
24	chr11:73043000-73047000	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
25	chr11:73043200-73046800	Enhancers	HepG2	liver
26	chr11:73043800-73046600	Enhancers	Right Atrium	heart
27	chr11:73043800-73046800	Enhancers	Fetal Intestine Large	intestine
28	chr11:73043800-73047000	Genic enhancers	Fetal Intestine Small	intestine
29	chr11:73044000-73047200	Flanking Active TSS	Stomach Smooth Muscle	stomach
30	chr11:73044200-73046600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
31	chr11:73044200-73046600	Enhancers	Colonic Mucosa	Colon
32	chr11:73044200-73046600	Enhancers	Stomach Mucosa	stomach
33	chr11:73044200-73047200	Enhancers	HUVEC	blood vessel
34	chr11:73044400-73046600	Enhancers	Brain Hippocampus Middle	brain
35	chr11:73044400-73047000	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr11:73044400-73047000	Enhancers	Fetal Muscle Trunk	muscle
37	chr11:73044400-73047200	Enhancers	Spleen	Spleen
38	chr11:73044600-73047000	Enhancers	Brain Anterior Caudate	brain
39	chr11:73044800-73046600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr11:73044800-73046600	Enhancers	Primary hematopoietic stem cells	blood
41	chr11:73044800-73047000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr11:73044800-73053000	Weak transcription	Aorta	Aorta
43	chr11:73045000-73046600	Enhancers	Rectal Mucosa Donor 31	rectum
44	chr11:73045000-73046600	Enhancers	GM12878-XiMat	blood
45	chr11:73045000-73046600	Enhancers	K562	blood
46	chr11:73045000-73048200	Enhancers	HMEC	breast
47	chr11:73045200-73047000	Enhancers	HSMMtube	muscle
48	chr11:73045400-73046600	Enhancers	NHEK	skin
49	chr11:73045400-73047000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
50	chr11:73045400-73047000	Enhancers	Fetal Brain Female	brain

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