Variant report

Variant	rs117744062
Chromosome Location	chr7:126996107-126996108
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:126994441..126996750-chr7:126997785..127000283,3	K562	blood:
2	chr7:126993441..126998972-chr7:127031083..127033725,7	MCF-7	breast:
3	chr7:126985529..126987852-chr7:126995561..126998469,2	K562	blood:

Variant related genes	Relation type
ENSG00000048405	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv526043	chr7:126985158-126998210	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1017145	chr7:126995304-127015459	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:126984400-127000800	Weak transcription	HSMMtube	muscle
2	chr7:126987800-127020600	Weak transcription	Spleen	Spleen
3	chr7:126988200-127001000	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr7:126988400-126996800	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr7:126988400-126997000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr7:126988400-126997000	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr7:126988400-126997000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr7:126988400-126997000	Weak transcription	Osteobl	bone
9	chr7:126988400-126998800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr7:126988400-126998800	Weak transcription	Placenta	Placenta
11	chr7:126988400-126999200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr7:126988400-126999200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr7:126988400-126999800	Weak transcription	Primary T cells from cord blood	blood
14	chr7:126988400-127000000	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr7:126988400-127000000	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr7:126988400-127000000	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr7:126988400-127000200	Weak transcription	Adipose Nuclei	Adipose
18	chr7:126988400-127000400	Weak transcription	Hela-S3	cervix
19	chr7:126988400-127000600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr7:126988400-127000600	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr7:126988400-127000600	Weak transcription	Fetal Intestine Large	intestine
22	chr7:126988400-127000800	Weak transcription	Primary B cells from peripheral blood	blood
23	chr7:126988400-127000800	Weak transcription	Brain Hippocampus Middle	brain
24	chr7:126988400-127000800	Weak transcription	Duodenum Mucosa	Duodenum
25	chr7:126988400-127000800	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr7:126988400-127001000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr7:126988400-127001000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr7:126988400-127001000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr7:126988400-127001000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr7:126988400-127001000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr7:126988400-127001000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr7:126988400-127001000	Weak transcription	Aorta	Aorta
33	chr7:126988400-127001000	Weak transcription	Brain Angular Gyrus	brain
34	chr7:126988400-127001000	Weak transcription	Esophagus	oesophagus
35	chr7:126988400-127001000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr7:126988400-127001000	Weak transcription	Fetal Stomach	stomach
37	chr7:126988400-127001000	Weak transcription	Left Ventricle	heart
38	chr7:126988400-127001000	Weak transcription	Lung	lung
39	chr7:126988400-127001000	Weak transcription	Right Ventricle	heart
40	chr7:126988400-127001000	Weak transcription	Thymus	Thymus
41	chr7:126988400-127001000	Weak transcription	NH-A	brain
42	chr7:126988400-127001000	Weak transcription	NHLF	lung
43	chr7:126988400-127001200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr7:126988400-127002200	Weak transcription	Fetal Heart	heart
45	chr7:126988400-127004400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr7:126988400-127006400	Weak transcription	Psoas Muscle	Psoas
47	chr7:126988400-127012600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr7:126988400-127013000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr7:126988400-127013000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
50	chr7:126988400-127013200	Weak transcription	NHEK	skin

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