Variant report

Variant	rs534904092
Chromosome Location	chr7:127031230-127031231
allele	C/T
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:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:19 , 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	chr17:57914420..57916265-chr7:127031107..127033179,2	MCF-7	breast:
14	chr7:127030656..127034603-chr7:127225190..127230310,7	MCF-7	breast:
15	chr7:126892205..126895115-chr7:127030974..127032697,2	MCF-7	breast:
16	chr7:127030702..127032822-chr7:127225677..127228410,2	K562	blood:
17	chr7:126986612..126990415-chr7:127030676..127033732,5	MCF-7	breast:
18	chr7:127029710..127031425-chr7:127223737..127226440,2	MCF-7	breast:
19	chr7:126987100..126989492-chr7:127030062..127031935,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000062716	Chromatin interaction
ENSG00000004059	Chromatin interaction
ENSG00000048405	Chromatin interaction
ENSG00000106328	Chromatin interaction
ENSG00000197157	Chromatin interaction
ENSG00000224138	Chromatin interaction
ENSG00000224897	Chromatin interaction
ENSG00000240790	Chromatin interaction
ENSG00000179603	Chromatin interaction
ENSG00000179562	Chromatin interaction
ENSG00000128513	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:119 , 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	chr7:126999400-127031400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr7:127001600-127031400	Weak transcription	Brain Angular Gyrus	brain
6	chr7:127001600-127031400	Weak transcription	Esophagus	oesophagus
7	chr7:127001600-127031400	Weak transcription	Gastric	stomach
8	chr7:127001600-127031400	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr7:127001600-127031400	Weak transcription	Right Ventricle	heart
10	chr7:127010200-127031400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr7:127015000-127031400	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr7:127015000-127031400	Weak transcription	Fetal Kidney	kidney
13	chr7:127015000-127031400	Weak transcription	Fetal Muscle Trunk	muscle
14	chr7:127015000-127031400	Weak transcription	Lung	lung
15	chr7:127023600-127031400	Weak transcription	Fetal Muscle Leg	muscle
16	chr7:127023800-127031600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr7:127028000-127031400	Weak transcription	Left Ventricle	heart
18	chr7:127028000-127031400	Weak transcription	Ovary	ovary
19	chr7:127028800-127031400	Weak transcription	Small Intestine	intestine
20	chr7:127029400-127031400	Weak transcription	Aorta	Aorta
21	chr7:127030200-127031400	Enhancers	Fetal Heart	heart
22	chr7:127030200-127032000	Transcr. at gene 5' and 3'	Dnd41	blood
23	chr7:127030400-127031600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr7:127030400-127031800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr7:127030400-127031800	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
26	chr7:127030600-127031400	Weak transcription	Fetal Thymus	thymus
27	chr7:127030600-127032000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr7:127030800-127031400	Weak transcription	Placenta	Placenta
29	chr7:127030800-127033000	Active TSS	HMEC	breast
30	chr7:127030800-127033200	Active TSS	GM12878-XiMat	blood
31	chr7:127031000-127031400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr7:127031000-127031400	Enhancers	Primary monocytes fromperipheralblood	blood
33	chr7:127031000-127031400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
34	chr7:127031000-127031400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
35	chr7:127031000-127031400	Active TSS	Primary T regulatory cells fromperipheralblood	blood
36	chr7:127031000-127031400	Enhancers	Adipose Nuclei	Adipose
37	chr7:127031000-127031400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr7:127031000-127031400	Enhancers	Fetal Brain Male	brain
39	chr7:127031000-127031400	Flanking Active TSS	Hela-S3	cervix
40	chr7:127031000-127031600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr7:127031000-127031600	Flanking Active TSS	Primary T cells from cord blood	blood
42	chr7:127031000-127031600	Flanking Active TSS	Osteobl	bone
43	chr7:127031000-127031800	Flanking Active TSS	Primary B cells from cord blood	blood
44	chr7:127031000-127031800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
45	chr7:127031000-127031800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr7:127031000-127031800	Flanking Active TSS	HUVEC	blood vessel
47	chr7:127031000-127031800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
48	chr7:127031000-127033200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr7:127031000-127033200	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
50	chr7:127031200-127031400	Transcr. at gene 5' and 3'	Primary B cells from peripheral blood	blood

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