Variant report

Variant	rs11638998
Chromosome Location	chr15:99987597-99987598
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:99972525..99976931-chr15:99986719..99991606,5	MCF-7	breast:
2	chr15:99981264..99984715-chr15:99985641..99987973,4	MCF-7	breast:
3	chr15:99985824..99988050-chr15:99992595..99995524,2	MCF-7	breast:
4	chr15:99986076..99989977-chr15:99992374..99995201,3	K562	blood:
5	chr15:99987398..99990235-chr15:100010575..100012559,2	MCF-7	breast:

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11247094	0.81[EUR][1000 genomes]
rs12050818	0.81[EUR][1000 genomes]
rs12909582	0.81[EUR][1000 genomes]
rs1561864	0.81[EUR][1000 genomes]
rs1561866	0.81[EUR][1000 genomes]
rs28393358	0.81[EUR][1000 genomes]
rs28463528	0.81[EUR][1000 genomes]
rs2862151	0.80[EUR][1000 genomes]
rs4965489	0.81[EUR][1000 genomes]
rs4965493	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6598248	0.81[EUR][1000 genomes]
rs6598249	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7162817	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7165066	0.91[EUR][1000 genomes]
rs7169660	0.80[EUR][1000 genomes]
rs7170529	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7182313	0.80[EUR][1000 genomes]
rs8032786	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs894416	0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1055008	chr15:99477144-100019861	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv904543	chr15:99513231-99991506	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv533926	chr15:99519820-99997114	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	nsv915926	chr15:99519820-100138705	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
5	nsv817289	chr15:99621061-100138705	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active 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	44 gene(s)	inside rSNPs	diseases
6	nsv431411	chr15:99621061-100143999	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
7	nsv904546	chr15:99696046-100166300	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Genic enhancers 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	41 gene(s)	inside rSNPs	diseases
8	nsv1036346	chr15:99752391-100365458	Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
9	nsv542520	chr15:99752391-100365458	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
10	nsv1051560	chr15:99837102-100124483	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers 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	19 gene(s)	inside rSNPs	diseases
11	nsv817201	chr15:99839238-100537341	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
12	nsv904549	chr15:99940221-99991506	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
13	nsv904557	chr15:99956954-99991506	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
14	nsv519319	chr15:99972661-99991506	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
15	nsv1050527	chr15:99983054-100035436	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:99979200-99995800	Enhancers	Fetal Thymus	thymus
2	chr15:99980800-99987600	Enhancers	Thymus	Thymus
3	chr15:99981200-99989000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
4	chr15:99981200-99990800	Enhancers	Primary T helper cells PMA-I stimulated	--
5	chr15:99981200-99991000	Enhancers	Primary T cells from cord blood	blood
6	chr15:99982400-99990200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr15:99983400-99988400	Weak transcription	Fetal Kidney	kidney
8	chr15:99983400-99991600	Weak transcription	GM12878-XiMat	blood
9	chr15:99983400-99992600	Weak transcription	Fetal Lung	lung
10	chr15:99983400-99993600	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr15:99983600-99988000	Weak transcription	Aorta	Aorta
12	chr15:99983600-99990800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr15:99983600-99991800	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr15:99983600-99992800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr15:99983600-99993200	Weak transcription	Psoas Muscle	Psoas
16	chr15:99984200-99987600	Weak transcription	Esophagus	oesophagus
17	chr15:99984400-99988000	Weak transcription	HSMMtube	muscle
18	chr15:99984400-99988200	Weak transcription	Brain Cingulate Gyrus	brain
19	chr15:99984400-99988400	Weak transcription	Hela-S3	cervix
20	chr15:99984400-99989600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr15:99984400-99990000	Weak transcription	Brain Anterior Caudate	brain
22	chr15:99984400-99991200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr15:99984400-99992400	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr15:99984400-99992600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr15:99984600-99987600	Weak transcription	Rectal Smooth Muscle	rectum
26	chr15:99984600-99988200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr15:99984800-99988000	Weak transcription	Left Ventricle	heart
28	chr15:99984800-99990800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr15:99985000-99988000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr15:99985000-99988000	Weak transcription	Stomach Smooth Muscle	stomach
31	chr15:99985000-99991200	Weak transcription	Spleen	Spleen
32	chr15:99985200-99990000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr15:99985600-99990000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr15:99985800-99988000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chr15:99985800-99988000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr15:99985800-99990000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr15:99985800-99990600	Weak transcription	Adipose Nuclei	Adipose
38	chr15:99985800-99994600	Enhancers	Fetal Heart	heart
39	chr15:99986200-99987800	Weak transcription	Primary T helper cells fromperipheralblood	blood
40	chr15:99986400-99987800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr15:99986800-99987600	Enhancers	Fetal Muscle Trunk	muscle
42	chr15:99986800-99987600	Enhancers	Pancreas	Pancrea
43	chr15:99986800-99987800	Bivalent Enhancer	Brain Germinal Matrix	brain
44	chr15:99986800-99987800	Enhancers	Placenta Amnion	Placenta Amnion
45	chr15:99986800-99989000	Enhancers	Lung	lung
46	chr15:99986800-99989400	Enhancers	Right Atrium	heart
47	chr15:99986800-99996600	Enhancers	Fetal Muscle Leg	muscle
48	chr15:99987000-99987600	Active TSS	Duodenum Mucosa	Duodenum
49	chr15:99987000-99988200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr15:99987000-99988600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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