Variant report

Variant	rs73500750
Chromosome Location	chr11:77315706-77315707
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:77315212..77318257-chr11:77320880..77323907,4	K562	blood:
2	chr10:111316064..111316856-chr11:77315342..77316021,2	HCT-116	colon:

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs35216705	1.00[AMR][1000 genomes]
rs56709311	1.00[AMR][1000 genomes]
rs57008614	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57229097	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57544945	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58758035	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59231807	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59293034	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60695213	1.00[AMR][1000 genomes]
rs60704733	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61186004	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73492001	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73493811	1.00[AFR][1000 genomes]
rs73493813	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73493836	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73493884	1.00[AMR][1000 genomes]
rs73498844	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73498845	1.00[AMR][1000 genomes]
rs73498851	1.00[AMR][1000 genomes]
rs73498854	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73498869	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73498882	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73498884	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73500705	1.00[AMR][1000 genomes]
rs73500729	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73500735	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73500752	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73500756	1.00[AMR][1000 genomes]
rs73500773	1.00[AMR][1000 genomes]
rs73504713	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73504718	1.00[AMR][1000 genomes]
rs73504734	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73504744	1.00[AMR][1000 genomes]
rs73504765	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73504777	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73504800	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73506711	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73506717	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73506724	1.00[AMR][1000 genomes]
rs73506730	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73506734	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73506737	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73506741	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73506742	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73506754	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73506778	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73508705	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73508715	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73508720	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73508738	1.00[AFR][1000 genomes]
rs73508749	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1048360	chr11:76900813-77387933	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers 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	24 gene(s)	inside rSNPs	diseases
2	nsv541089	chr11:76900813-77387933	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv1049603	chr11:76900813-77520411	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv541090	chr11:76900813-77520411	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
5	esv2752651	chr11:77211136-77318279	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv1038974	chr11:77284036-77431228	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
7	nsv1041384	chr11:77284558-77419809	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
8	nsv1048892	chr11:77290458-77431228	Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
9	nsv1053074	chr11:77290458-77435831	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
10	nsv468641	chr11:77301341-77420314	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
11	nsv555452	chr11:77301341-77420314	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
12	nsv1035494	chr11:77309696-77431228	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 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	chr11:77301400-77346000	Weak transcription	Small Intestine	intestine
2	chr11:77301600-77317200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr11:77301600-77317800	Weak transcription	Primary T cells fromperipheralblood	blood
4	chr11:77301600-77318600	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr11:77301600-77332800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr11:77301800-77316200	Weak transcription	Fetal Muscle Trunk	muscle
7	chr11:77301800-77316600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr11:77301800-77317200	Weak transcription	Fetal Muscle Leg	muscle
9	chr11:77301800-77318200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr11:77301800-77322400	Weak transcription	Primary B cells from peripheral blood	blood
11	chr11:77301800-77326600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr11:77301800-77332200	Weak transcription	Esophagus	oesophagus
13	chr11:77301800-77345800	Weak transcription	Spleen	Spleen
14	chr11:77302000-77316000	Weak transcription	Fetal Stomach	stomach
15	chr11:77302000-77316400	Weak transcription	Fetal Lung	lung
16	chr11:77302000-77317400	Weak transcription	Primary T helper cells fromperipheralblood	blood
17	chr11:77302000-77318400	Weak transcription	Fetal Kidney	kidney
18	chr11:77302000-77322400	Weak transcription	Colon Smooth Muscle	Colon
19	chr11:77302200-77317200	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr11:77302200-77321400	Weak transcription	Fetal Brain Female	brain
21	chr11:77302200-77321800	Weak transcription	Brain Germinal Matrix	brain
22	chr11:77302600-77316600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr11:77303400-77322600	Weak transcription	Fetal Brain Male	brain
24	chr11:77305600-77326000	Weak transcription	Primary B cells from cord blood	blood
25	chr11:77308800-77318600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr11:77309800-77317400	Weak transcription	Placenta	Placenta
27	chr11:77310200-77317000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr11:77310400-77317600	Weak transcription	Primary T cells from cord blood	blood
29	chr11:77310800-77329200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr11:77311400-77317800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr11:77311600-77316400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr11:77311600-77327200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
33	chr11:77312000-77317200	Weak transcription	Fetal Thymus	thymus
34	chr11:77313000-77317400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr11:77313000-77321000	Weak transcription	GM12878-XiMat	blood
36	chr11:77313000-77322200	Weak transcription	Lung	lung
37	chr11:77313000-77327200	Weak transcription	Psoas Muscle	Psoas
38	chr11:77313000-77345200	Weak transcription	Gastric	stomach
39	chr11:77313000-77347400	Weak transcription	Colonic Mucosa	Colon
40	chr11:77313200-77318400	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr11:77313200-77330400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr11:77313400-77323400	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr11:77313400-77327800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr11:77313800-77316600	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr11:77314000-77316200	Weak transcription	Duodenum Mucosa	Duodenum
46	chr11:77314000-77316400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr11:77314000-77317000	Weak transcription	HepG2	liver
48	chr11:77314000-77317200	Weak transcription	Primary T helper cells PMA-I stimulated	--
49	chr11:77314000-77317200	Weak transcription	K562	blood
50	chr11:77314000-77318400	Weak transcription	Skeletal Muscle Female	skeletal muscle

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