Variant report

Variant	rs530480550
Chromosome Location	chr7:127031059-127031060
allele	A/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:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:127028627..127034604-chr7:127290902..127294330,10	K562	blood:
2	chr7:127031057..127033330-chr7:127290561..127293507,3	MCF-7	breast:
3	chr7:126890989..126892929-chr7:127030143..127031828,2	K562	blood:
4	chr7:126891429..126894759-chr7:127030328..127033331,3	K562	blood:
5	chr7:127030999..127034277-chr7:127071570..127073569,4	K562	blood:
6	chr7:124568199..124570049-chr7:127030538..127032262,2	K562	blood:
7	chr7:127029421..127032644-chr7:127225849..127230043,4	K562	blood:
8	chr7:127011403..127015656-chr7:127030018..127033626,5	MCF-7	breast:
9	chr7:127029920..127034279-chr7:127291168..127294285,4	MCF-7	breast:
10	chr7:126985549..126992875-chr7:127029251..127034121,12	K562	blood:
11	chr7:127029926..127034103-chr7:127290516..127296284,10	K562	blood:
12	7:127018926-127031401..7:127225864-127233104	GM12878	blood:
13	chr7:127030656..127034603-chr7:127225190..127230310,7	MCF-7	breast:
14	chr7:126892205..126895115-chr7:127030974..127032697,2	MCF-7	breast:
15	chr7:127030702..127032822-chr7:127225677..127228410,2	K562	blood:
16	chr7:126986612..126990415-chr7:127030676..127033732,5	MCF-7	breast:
17	chr7:127029710..127031425-chr7:127223737..127226440,2	MCF-7	breast:
18	chr7:126987100..126989492-chr7:127030062..127031935,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000224138	Chromatin interaction
ENSG00000179603	Chromatin interaction
ENSG00000197157	Chromatin interaction
ENSG00000048405	Chromatin interaction
ENSG00000240790	Chromatin interaction
ENSG00000004059	Chromatin interaction
ENSG00000128513	Chromatin interaction
ENSG00000224897	Chromatin interaction
ENSG00000179562	Chromatin interaction
ENSG00000106328	Chromatin interaction

Extended variants
information (count: 1 )
Associated
traits (count: 0)

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3373113	chr7:127030941-127033489	Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:126988400-127031400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr7:126988400-127031400	Weak transcription	Colonic Mucosa	Colon
3	chr7:126988400-127031400	Weak transcription	Pancreas	Pancrea
4	chr7:126997400-127031200	Weak transcription	Brain Substantia Nigra	brain
5	chr7:126999400-127031400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr7:127001600-127031200	Weak transcription	Fetal Stomach	stomach
7	chr7:127001600-127031400	Weak transcription	Brain Angular Gyrus	brain
8	chr7:127001600-127031400	Weak transcription	Esophagus	oesophagus
9	chr7:127001600-127031400	Weak transcription	Gastric	stomach
10	chr7:127001600-127031400	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr7:127001600-127031400	Weak transcription	Right Ventricle	heart
12	chr7:127010200-127031400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr7:127013800-127031200	Weak transcription	Fetal Brain Female	brain
14	chr7:127015000-127031200	Weak transcription	Brain Hippocampus Middle	brain
15	chr7:127015000-127031200	Weak transcription	Thymus	Thymus
16	chr7:127015000-127031200	Weak transcription	HSMMtube	muscle
17	chr7:127015000-127031400	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr7:127015000-127031400	Weak transcription	Fetal Kidney	kidney
19	chr7:127015000-127031400	Weak transcription	Fetal Muscle Trunk	muscle
20	chr7:127015000-127031400	Weak transcription	Lung	lung
21	chr7:127015200-127031200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr7:127018200-127031200	Weak transcription	Brain Germinal Matrix	brain
23	chr7:127022200-127031200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr7:127023600-127031200	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr7:127023600-127031200	Weak transcription	Stomach Mucosa	stomach
26	chr7:127023600-127031200	Weak transcription	Stomach Smooth Muscle	stomach
27	chr7:127023600-127031400	Weak transcription	Fetal Muscle Leg	muscle
28	chr7:127023800-127031200	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr7:127023800-127031600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr7:127024600-127031200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
31	chr7:127024800-127031200	Strong transcription	Primary B cells from peripheral blood	blood
32	chr7:127025200-127031200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
33	chr7:127027600-127031200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr7:127028000-127031200	Strong transcription	Primary T cells fromperipheralblood	blood
35	chr7:127028000-127031200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr7:127028000-127031400	Weak transcription	Left Ventricle	heart
37	chr7:127028000-127031400	Weak transcription	Ovary	ovary
38	chr7:127028200-127031200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr7:127028200-127031200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
40	chr7:127028200-127031200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
41	chr7:127028800-127031400	Weak transcription	Small Intestine	intestine
42	chr7:127029200-127031200	Weak transcription	Psoas Muscle	Psoas
43	chr7:127029400-127031200	Weak transcription	Fetal Intestine Large	intestine
44	chr7:127029400-127031200	Enhancers	HepG2	liver
45	chr7:127029400-127031400	Weak transcription	Aorta	Aorta
46	chr7:127029600-127031200	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr7:127030200-127031200	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr7:127030200-127031200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr7:127030200-127031200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
50	chr7:127030200-127031200	Enhancers	Duodenum Mucosa	Duodenum

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