Variant report

Variant	rs570330844
Chromosome Location	chr7:127992574-127992575
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:127913044..127915335-chr7:127992240..127993797,2	K562	blood:
2	chr7:127982362..127984093-chr7:127992558..127995177,2	MCF-7	breast:
3	chr7:127992082..127994842-chr7:128029852..128032073,3	K562	blood:
4	chr7:127991141..127992839-chr7:127994705..127996789,2	K562	blood:
5	chr7:127991366..127994024-chr7:128043905..128046118,2	MCF-7	breast:
6	chr7:127990878..127995208-chr7:127998293..128004686,6	K562	blood:
7	chr7:127992322..127995114-chr7:128014039..128015819,2	K562	blood:
8	chr7:127986655..127989567-chr7:127989980..127992814,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000106344	Chromatin interaction
ENSG00000224940	Chromatin interaction
ENSG00000106348	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 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
4	esv2493565	chr7:127985695-128053377	Weak transcription Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
5	esv3478325	chr7:127986726-128053483	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	esv3478326	chr7:127986726-128053483	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
7	esv3355435	chr7:127989716-127994314	Bivalent Enhancer Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
8	esv3406494	chr7:127990366-127992864	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
9	esv3386261	chr7:127991266-127993364	Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127990400-127994400	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr7:127991000-127992800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr7:127991000-127993000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
4	chr7:127991200-127992800	Enhancers	Spleen	Spleen
5	chr7:127991200-127993000	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
6	chr7:127991400-127992600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
7	chr7:127991400-127992600	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
8	chr7:127991400-127992800	Bivalent Enhancer	Brain Hippocampus Middle	brain
9	chr7:127991400-127992800	Enhancers	Gastric	stomach
10	chr7:127991400-127992800	Flanking Active TSS	Right Ventricle	heart
11	chr7:127991400-127993200	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
12	chr7:127991600-127992600	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr7:127991600-127992600	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
14	chr7:127991600-127992600	Active TSS	Primary T helper naive cells fromperipheralblood	blood
15	chr7:127991600-127992600	Enhancers	Liver	Liver
16	chr7:127991600-127992600	Enhancers	Lung	lung
17	chr7:127991600-127992600	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
18	chr7:127991600-127992600	Bivalent Enhancer	NH-A	brain
19	chr7:127991800-127992600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr7:127991800-127992600	Bivalent Enhancer	Stomach Mucosa	stomach
21	chr7:127991800-127992800	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
22	chr7:127991800-127992800	Enhancers	Placenta Amnion	Placenta Amnion
23	chr7:127992000-127992600	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
24	chr7:127992000-127992600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr7:127992000-127992600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr7:127992000-127992800	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
27	chr7:127992200-127992600	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
28	chr7:127992200-127992600	Active TSS	Brain Inferior Temporal Lobe	brain
29	chr7:127992200-127992600	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
30	chr7:127992200-127992600	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
31	chr7:127992200-127992600	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
32	chr7:127992200-127992800	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
33	chr7:127992200-127992800	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
34	chr7:127992200-127993000	Bivalent Enhancer	Fetal Muscle Leg	muscle
35	chr7:127992200-127993200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
36	chr7:127992400-127992600	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr7:127992400-127992600	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr7:127992400-127992600	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood
39	chr7:127992400-127992600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
40	chr7:127992400-127992600	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
41	chr7:127992400-127992600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr7:127992400-127992600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr7:127992400-127992600	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr7:127992400-127992600	Flanking Active TSS	Adipose Nuclei	Adipose
45	chr7:127992400-127992600	Enhancers	Esophagus	oesophagus
46	chr7:127992400-127992600	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
47	chr7:127992400-127992600	Bivalent Enhancer	Fetal Lung	lung
48	chr7:127992400-127992600	Enhancers	Ovary	ovary
49	chr7:127992400-127992600	Enhancers	Psoas Muscle	Psoas
50	chr7:127992400-127992600	Bivalent/Poised TSS	HepG2	liver

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