Variant report

Variant	rs60436721
Chromosome Location	chr11:73077990-73077991
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:73077441..73084740-chr11:73085851..73089070,9	MCF-7	breast:
2	chr11:73077155..73079964-chr11:73102615..73104681,2	K562	blood:
3	chr11:73076599..73078971-chr11:73085777..73089781,4	K562	blood:
4	chr11:73076489..73078676-chr11:73084006..73085731,2	K562	blood:
5	chr11:73071618..73073385-chr11:73077416..73079992,2	K562	blood:

Variant related genes	Relation type
ENSG00000054967	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs3933402	1.00[ASN][1000 genomes]
rs57727431	0.91[ASN][1000 genomes]
rs57792931	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs57860998	1.00[ASN][1000 genomes]
rs59376886	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60038108	0.91[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]
rs7109601	0.83[AFR][1000 genomes]
rs7113420	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7123300	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7342152	0.83[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:4 , 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	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
4	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:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73054600-73081800	Strong transcription	Fetal Intestine Small	intestine
2	chr11:73059200-73087400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr11:73059800-73083000	Weak transcription	Fetal Heart	heart
4	chr11:73062600-73078400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr11:73062600-73082200	Strong transcription	Fetal Stomach	stomach
6	chr11:73062600-73087400	Weak transcription	Liver	Liver
7	chr11:73063400-73080600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr11:73063400-73081200	Strong transcription	Fetal Intestine Large	intestine
9	chr11:73063600-73081000	Strong transcription	Cortex derived primary cultured neurospheres	brain
10	chr11:73063600-73081400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr11:73063800-73079000	Strong transcription	Fetal Lung	lung
12	chr11:73063800-73081000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr11:73063800-73081000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr11:73063800-73081400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr11:73066400-73079800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr11:73066600-73078000	Strong transcription	Lung	lung
17	chr11:73066600-73081400	Strong transcription	Placenta Amnion	Placenta Amnion
18	chr11:73066800-73079200	Strong transcription	Colon Smooth Muscle	Colon
19	chr11:73068600-73078200	Weak transcription	Small Intestine	intestine
20	chr11:73068800-73081000	Strong transcription	Fetal Brain Female	brain
21	chr11:73069800-73081000	Strong transcription	Brain Germinal Matrix	brain
22	chr11:73070400-73079400	Strong transcription	Duodenum Smooth Muscle	Duodenum
23	chr11:73070600-73079400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr11:73070800-73080400	Strong transcription	Aorta	Aorta
25	chr11:73070800-73081000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
26	chr11:73070800-73081600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr11:73071200-73079400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr11:73071400-73080000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr11:73071400-73080800	Strong transcription	Osteobl	bone
30	chr11:73071400-73081200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr11:73071600-73081000	Strong transcription	NHLF	lung
32	chr11:73071800-73081000	Strong transcription	Stomach Smooth Muscle	stomach
33	chr11:73072400-73087000	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr11:73073200-73087000	Weak transcription	HMEC	breast
35	chr11:73073800-73080400	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr11:73073800-73087000	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr11:73074000-73086600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr11:73074200-73086600	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr11:73074800-73078600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr11:73075000-73080000	Enhancers	Primary B cells from peripheral blood	blood
41	chr11:73075000-73080400	Enhancers	Primary B cells from cord blood	blood
42	chr11:73075200-73078800	Weak transcription	Colonic Mucosa	Colon
43	chr11:73075200-73080400	Weak transcription	HepG2	liver
44	chr11:73075200-73086800	Weak transcription	Brain Substantia Nigra	brain
45	chr11:73075400-73080400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr11:73075600-73080800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr11:73076000-73078000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr11:73076200-73078000	Strong transcription	Left Ventricle	heart
49	chr11:73076200-73079200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
50	chr11:73076200-73080400	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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