Variant report

Variant	rs57866092
Chromosome Location	chr7:127663691-127663692
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:127663588..127667936-chr7:127668041..127670204,3	MCF-7	breast:
2	chr7:127657571..127659586-chr7:127661972..127664018,2	K562	blood:
3	chr7:127661672..127664350-chr7:127696430..127698660,2	MCF-7	breast:
4	chr7:127663563..127667707-chr7:127669139..127672170,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000128594	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs55673039	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55997549	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56922858	0.81[AFR][1000 genomes]
rs57683992	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58368490	1.00[AMR][1000 genomes]
rs58659499	0.81[AFR][1000 genomes]
rs60776739	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60805384	0.81[AFR][1000 genomes]
rs60865612	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61180975	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73721003	1.00[AMR][1000 genomes]
rs73721249	0.81[AFR][1000 genomes]
rs73721251	0.81[AFR][1000 genomes]
rs73721255	0.81[AFR][1000 genomes]
rs73721260	0.81[AFR][1000 genomes]
rs73721262	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73721265	0.81[AFR][1000 genomes]
rs73721267	0.81[AFR][1000 genomes]
rs73721268	0.87[AFR][1000 genomes]
rs73721270	0.87[AFR][1000 genomes]
rs73721274	0.87[AFR][1000 genomes]
rs73721275	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73721276	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73721277	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73721280	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73721281	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73721283	1.00[AMR][1000 genomes]
rs73721284	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73721285	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73721286	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73721287	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73721288	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73721290	0.90[AFR][1000 genomes]
rs73723070	1.00[AMR][1000 genomes]
rs73723071	1.00[AMR][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	nsv1022385	chr7:127246656-127971194	Weak transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv539120	chr7:127246656-127971194	Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv1016143	chr7:127251359-127726762	Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv1024743	chr7:127498695-127670004	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127641600-127670400	Weak transcription	Colonic Mucosa	Colon
2	chr7:127644000-127668800	Weak transcription	Dnd41	blood
3	chr7:127644000-127670200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr7:127644800-127667400	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr7:127644800-127670800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr7:127645000-127684000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr7:127645400-127670000	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr7:127651800-127664400	Weak transcription	Right Ventricle	heart
9	chr7:127651800-127665600	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr7:127651800-127667600	Weak transcription	Colon Smooth Muscle	Colon
11	chr7:127651800-127668800	Weak transcription	Ovary	ovary
12	chr7:127651800-127670600	Weak transcription	Rectal Smooth Muscle	rectum
13	chr7:127653200-127668800	Weak transcription	Thymus	Thymus
14	chr7:127654600-127669200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr7:127654800-127664200	Weak transcription	Primary hematopoietic stem cells	blood
16	chr7:127657000-127664600	Strong transcription	GM12878-XiMat	blood
17	chr7:127657000-127670200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr7:127657200-127663800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr7:127657800-127669200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr7:127658000-127668800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr7:127658400-127666600	Weak transcription	Stomach Smooth Muscle	stomach
22	chr7:127658800-127668800	Weak transcription	Fetal Muscle Trunk	muscle
23	chr7:127658800-127669600	Weak transcription	Stomach Mucosa	stomach
24	chr7:127659000-127667400	Weak transcription	Fetal Kidney	kidney
25	chr7:127659200-127665800	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr7:127659400-127664600	Weak transcription	Right Atrium	heart
27	chr7:127660000-127664400	Enhancers	HMEC	breast
28	chr7:127660200-127666800	Strong transcription	HepG2	liver
29	chr7:127660400-127664000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr7:127660400-127667400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr7:127660800-127665600	Weak transcription	Small Intestine	intestine
32	chr7:127661000-127663800	Enhancers	NHEK	skin
33	chr7:127661000-127664600	Enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr7:127661000-127667400	Weak transcription	Left Ventricle	heart
35	chr7:127661200-127663800	Enhancers	Brain Hippocampus Middle	brain
36	chr7:127661200-127664200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr7:127661200-127670400	Weak transcription	Primary T helper cells PMA-I stimulated	--
38	chr7:127661400-127666400	Weak transcription	Fetal Lung	lung
39	chr7:127661400-127667600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr7:127661600-127664400	Weak transcription	Spleen	Spleen
41	chr7:127661600-127664800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr7:127661600-127664800	Weak transcription	Aorta	Aorta
43	chr7:127661600-127664800	Weak transcription	Lung	lung
44	chr7:127661600-127666600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr7:127661600-127667400	Weak transcription	Gastric	stomach
46	chr7:127661600-127668800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr7:127661600-127668800	Weak transcription	Pancreas	Pancrea
48	chr7:127661600-127669000	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr7:127661600-127670200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr7:127661600-127670400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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