Variant report

Variant	rs28714444
Chromosome Location	chr7:139465536-139465537
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	chr7:139465353..139468233-chr7:139701916..139703718,2	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10273177	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs10281682	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17161128	0.81[AFR][1000 genomes]
rs28530639	0.81[AFR][1000 genomes]
rs55700662	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs56086211	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60258209	0.86[AFR][1000 genomes]
rs6947792	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6950459	0.81[AFR][1000 genomes]
rs6954520	0.81[AFR][1000 genomes]
rs6963499	0.85[AMR][1000 genomes]
rs73735619	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73735622	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs73735623	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs73735625	0.82[AFR][1000 genomes]
rs73735628	0.81[AFR][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	nsv1020234	chr7:139377822-139661964	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1032711	chr7:139411404-139684043	Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv464732	chr7:139424022-139654256	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv608472	chr7:139424022-139654256	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv1018712	chr7:139429703-139658014	Flanking Active TSS Weak transcription Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:139432800-139469800	Weak transcription	Hela-S3	cervix
2	chr7:139438400-139467000	Weak transcription	Primary B cells from peripheral blood	blood
3	chr7:139438800-139466200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr7:139440600-139474600	Weak transcription	Fetal Brain Male	brain
5	chr7:139444000-139466000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr7:139445800-139466000	Weak transcription	Primary hematopoietic stem cells	blood
7	chr7:139446600-139475800	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr7:139446600-139476400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr7:139446800-139476400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr7:139449200-139466600	Weak transcription	Primary monocytes fromperipheralblood	blood
11	chr7:139451400-139466000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr7:139453200-139466800	Weak transcription	Thymus	Thymus
13	chr7:139453600-139467600	Weak transcription	Fetal Muscle Trunk	muscle
14	chr7:139454000-139467600	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr7:139454200-139471000	Weak transcription	Brain Germinal Matrix	brain
16	chr7:139454200-139474000	Weak transcription	Stomach Smooth Muscle	stomach
17	chr7:139455000-139466800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr7:139455000-139466800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr7:139455000-139475000	Weak transcription	Fetal Intestine Small	intestine
20	chr7:139455200-139473400	Weak transcription	Fetal Brain Female	brain
21	chr7:139455600-139466000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr7:139455600-139466600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr7:139458200-139471400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr7:139459200-139466600	Weak transcription	Duodenum Mucosa	Duodenum
25	chr7:139459600-139474400	Weak transcription	Fetal Intestine Large	intestine
26	chr7:139460600-139466800	Enhancers	Primary neutrophils fromperipheralblood	blood
27	chr7:139461000-139465800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
28	chr7:139461600-139466400	Strong transcription	HepG2	liver
29	chr7:139461600-139471200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr7:139463000-139466000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr7:139463000-139467800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr7:139463000-139469800	Weak transcription	A549	lung
33	chr7:139463200-139465600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr7:139463200-139465600	Weak transcription	Primary T cells from cord blood	blood
35	chr7:139463200-139465800	Weak transcription	GM12878-XiMat	blood
36	chr7:139463200-139466800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr7:139463200-139467000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr7:139463200-139467000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr7:139463200-139467400	Weak transcription	Fetal Lung	lung
40	chr7:139463200-139467600	Weak transcription	Colonic Mucosa	Colon
41	chr7:139463200-139467600	Weak transcription	Fetal Muscle Leg	muscle
42	chr7:139463200-139467600	Weak transcription	Placenta	Placenta
43	chr7:139463200-139468600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr7:139463200-139469200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr7:139463200-139472000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr7:139463400-139466600	Weak transcription	Stomach Mucosa	stomach
47	chr7:139463400-139467000	Weak transcription	Aorta	Aorta
48	chr7:139463400-139467600	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr7:139463400-139467600	Weak transcription	Spleen	Spleen
50	chr7:139463600-139465600	Weak transcription	Psoas Muscle	Psoas

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