Variant report

Variant	rs802049
Chromosome Location	chr7:86959855-86959856
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	chr7:86958828..86961379-chr7:86966852..86969333,2	MCF-7	breast:
2	chr7:86959696..86961373-chr7:86973324..86975320,2	K562	blood:

Variant related genes	Relation type
ENSG00000005469	Chromatin interaction
ENSG00000182165	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1089468	0.83[AFR][1000 genomes]
rs6948767	0.82[CEU][hapmap];0.81[EUR][1000 genomes]
rs802024	0.86[EUR][1000 genomes]
rs802025	0.86[EUR][1000 genomes]
rs802032	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs802046	0.94[EUR][1000 genomes]
rs802050	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs802051	1.00[CEU][hapmap];0.85[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025277	chr7:86299224-87206007	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	nsv538999	chr7:86299224-87206007	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats 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	90 gene(s)	inside rSNPs	diseases
3	nsv532147	chr7:86299225-87121975	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
4	nsv888677	chr7:86802025-87781111	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
5	nsv464622	chr7:86832603-87541248	Weak transcription Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
6	nsv607725	chr7:86832603-87541248	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
7	nsv1029486	chr7:86856387-87121976	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
8	nsv539004	chr7:86856387-87121976	Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
9	esv1814401	chr7:86857553-87034167	Flanking Active TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Enhancers Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
10	esv1826474	chr7:86857553-87034167	Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats 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	30 gene(s)	inside rSNPs	diseases
11	nsv428177	chr7:86857553-87034167	Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
12	esv1828294	chr7:86857553-87147397	Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
13	nsv1024376	chr7:86905796-87129346	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS 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	29 gene(s)	inside rSNPs	diseases
14	nsv1026153	chr7:86905796-87258822	Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
15	nsv1022111	chr7:86918603-86966719	Active TSS Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
16	nsv888678	chr7:86932085-87101407	Active TSS Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers 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

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:86951000-86972600	Weak transcription	Fetal Kidney	kidney
2	chr7:86952000-86960600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
3	chr7:86952000-86962000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr7:86955400-86960400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr7:86956000-86960000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
6	chr7:86956000-86960200	ZNF genes & repeats	Liver	Liver
7	chr7:86956400-86960000	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
8	chr7:86956400-86960000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
9	chr7:86956400-86960200	ZNF genes & repeats	Duodenum Mucosa	Duodenum
10	chr7:86956400-86960600	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr7:86956400-86960600	ZNF genes & repeats	Fetal Intestine Small	intestine
12	chr7:86957600-86960000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr7:86958000-86960000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr7:86958200-86970800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr7:86958400-86960400	ZNF genes & repeats	Primary B cells from peripheral blood	blood
16	chr7:86958400-86970400	Weak transcription	Pancreas	Pancrea
17	chr7:86958400-86972600	Weak transcription	Osteobl	bone
18	chr7:86958600-86960600	ZNF genes & repeats	Lung	lung
19	chr7:86958600-86971000	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr7:86958800-86971200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr7:86958800-86972600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr7:86959000-86960200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr7:86959000-86970400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr7:86959000-86973200	Weak transcription	A549	lung
25	chr7:86959000-86973400	Weak transcription	Brain Hippocampus Middle	brain
26	chr7:86959200-86960200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr7:86959400-86960000	Strong transcription	Primary T cells from cord blood	blood
28	chr7:86959400-86960000	Weak transcription	Fetal Intestine Large	intestine
29	chr7:86959400-86960200	Strong transcription	Primary B cells from cord blood	blood
30	chr7:86959400-86961200	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr7:86959400-86962000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr7:86959400-86963200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr7:86959400-86965200	Weak transcription	Primary T helper cells fromperipheralblood	blood
34	chr7:86959400-86968600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr7:86959400-86968600	Weak transcription	Colon Smooth Muscle	Colon
36	chr7:86959400-86968800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr7:86959400-86968800	Weak transcription	Aorta	Aorta
38	chr7:86959400-86968800	Weak transcription	Left Ventricle	heart
39	chr7:86959400-86969800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr7:86959400-86970400	Weak transcription	Fetal Muscle Trunk	muscle
41	chr7:86959400-86970600	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr7:86959400-86972600	Weak transcription	Brain Cingulate Gyrus	brain
43	chr7:86959400-86973800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr7:86959400-86973800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr7:86959400-86973800	Weak transcription	Thymus	Thymus
46	chr7:86959400-86974200	Weak transcription	Small Intestine	intestine
47	chr7:86959400-86974400	Weak transcription	Spleen	Spleen
48	chr7:86959600-86960000	Weak transcription	Gastric	stomach
49	chr7:86959600-86960200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr7:86959600-86960400	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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