Variant report

Variant	rs359653
Chromosome Location	chr7:127981519-127981520
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:127981398-127981719	GM12878	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:127857539..127859442-chr7:127980846..127983357,2	K562	blood:
2	chr7:127980838..127984024-chr7:128045373..128047689,4	K562	blood:
3	chr7:127981006..127985181-chr7:128044302..128047781,3	MCF-7	breast:
4	chr7:127224772..127227118-chr7:127979965..127981666,2	K562	blood:
5	chr7:127973213..127977895-chr7:127980902..127985287,5	MCF-7	breast:

No data

Variant related genes	Relation type
RBM28	TF binding region
RNU7-27P	TF binding region
ENSG00000179562	Chromatin interaction
ENSG00000106348	Chromatin interaction
ENSG00000106344	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1982402	1.00[AMR][1000 genomes]
rs28959470	1.00[AMR][1000 genomes]
rs359654	1.00[AMR][1000 genomes]
rs359656	1.00[AMR][1000 genomes]
rs359657	1.00[AMR][1000 genomes]
rs4728102	1.00[AMR][1000 genomes]
rs6467172	1.00[AMR][1000 genomes]
rs6954888	1.00[AMR][1000 genomes]
rs6972262	1.00[AMR][1000 genomes]
rs6979643	1.00[AMR][1000 genomes]
rs7788815	1.00[AMR][1000 genomes]
rs7811392	1.00[AMR][1000 genomes]
rs921398	1.00[AMR][1000 genomes]
rs9649515	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831124	chr7:127970345-128147910	Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
2	nsv889191	chr7:127973133-128073326	Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	nsv608400	chr7:127978820-128048194	Weak transcription Strong transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127939600-127982200	Weak transcription	Stomach Mucosa	stomach
2	chr7:127943000-127982000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr7:127943200-127981600	Strong transcription	HUES48 Cell Line	embryonic stem cell
4	chr7:127943400-127981600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
5	chr7:127953800-127982600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr7:127955800-127982800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr7:127972400-127982000	Weak transcription	Right Atrium	heart
8	chr7:127974200-127982200	Weak transcription	Fetal Heart	heart
9	chr7:127974400-127982200	Weak transcription	NHLF	lung
10	chr7:127976000-127982800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr7:127976600-127982400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr7:127977000-127982400	Weak transcription	Colonic Mucosa	Colon
13	chr7:127977200-127982000	Weak transcription	Fetal Kidney	kidney
14	chr7:127977200-127982800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr7:127977400-127982000	Weak transcription	Fetal Brain Male	brain
16	chr7:127977400-127982000	Weak transcription	Gastric	stomach
17	chr7:127977400-127982000	Weak transcription	Ovary	ovary
18	chr7:127977400-127982200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr7:127977400-127982400	Weak transcription	Esophagus	oesophagus
20	chr7:127977400-127982400	Weak transcription	Spleen	Spleen
21	chr7:127977600-127983200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr7:127978000-127982400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr7:127978400-127982000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr7:127978600-127981600	Weak transcription	Fetal Stomach	stomach
25	chr7:127978600-127982000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr7:127978600-127982000	Weak transcription	Fetal Intestine Small	intestine
27	chr7:127978600-127982000	Weak transcription	Lung	lung
28	chr7:127978600-127982000	Weak transcription	Pancreas	Pancrea
29	chr7:127978600-127982400	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr7:127978800-127982200	Weak transcription	Brain Substantia Nigra	brain
31	chr7:127978800-127982400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr7:127978800-127982600	Weak transcription	NH-A	brain
33	chr7:127979000-127981800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr7:127979000-127982400	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr7:127979200-127982000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr7:127979200-127982600	Weak transcription	Brain Anterior Caudate	brain
37	chr7:127979400-127981800	Weak transcription	Fetal Brain Female	brain
38	chr7:127979400-127982000	Weak transcription	Colon Smooth Muscle	Colon
39	chr7:127979400-127982000	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr7:127979400-127982000	Weak transcription	Rectal Smooth Muscle	rectum
41	chr7:127979400-127982000	Weak transcription	HUVEC	blood vessel
42	chr7:127979400-127982200	Weak transcription	Brain Germinal Matrix	brain
43	chr7:127979400-127982400	Weak transcription	NHDF-Ad	bronchial
44	chr7:127979600-127981600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr7:127979600-127981600	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr7:127979600-127982000	Weak transcription	Thymus	Thymus
47	chr7:127979600-127982200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr7:127979600-127982200	Weak transcription	Primary neutrophils fromperipheralblood	blood
49	chr7:127979600-127982200	Weak transcription	Osteobl	bone
50	chr7:127979800-127981800	Genic enhancers	Breast Myoepithelial Primary Cells	Breast

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