Variant report

Variant	rs114844490
Chromosome Location	chr1:172324014-172324015
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:172315289..172319406-chr1:172322030..172325808,4	MCF-7	breast:
2	chr1:172322016..172323683-chr1:172323746..172325652,2	MCF-7	breast:
3	chr1:172075448..172077009-chr1:172323727..172325300,2	MCF-7	breast:
4	chr1:172318035..172320026-chr1:172322027..172324198,2	K562	blood:

Variant related genes	Relation type
ENSG00000252354	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	nsv3543	chr1:172323563-172334586	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:172313400-172327000	Weak transcription	Aorta	Aorta
2	chr1:172320800-172332800	Enhancers	Fetal Intestine Small	intestine
3	chr1:172321200-172324200	Enhancers	GM12878-XiMat	blood
4	chr1:172321200-172325000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr1:172321200-172325000	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr1:172321200-172326400	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr1:172321200-172327000	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr1:172321200-172327200	Weak transcription	Right Atrium	heart
9	chr1:172321200-172329600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr1:172321400-172324200	Enhancers	Hela-S3	cervix
11	chr1:172321400-172325000	Weak transcription	Rectal Smooth Muscle	rectum
12	chr1:172321400-172325200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr1:172321400-172325600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr1:172321400-172326600	Weak transcription	Brain Cingulate Gyrus	brain
15	chr1:172321400-172327000	Weak transcription	Duodenum Mucosa	Duodenum
16	chr1:172321400-172327000	Weak transcription	Small Intestine	intestine
17	chr1:172321400-172327200	Weak transcription	Ovary	ovary
18	chr1:172321600-172325000	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr1:172321600-172327200	Weak transcription	Fetal Heart	heart
20	chr1:172322000-172325200	Weak transcription	HUVEC	blood vessel
21	chr1:172322000-172325600	Weak transcription	NHDF-Ad	bronchial
22	chr1:172322000-172327000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr1:172322000-172327000	Weak transcription	Fetal Stomach	stomach
24	chr1:172322200-172325200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr1:172322200-172325200	Weak transcription	HSMM	muscle
26	chr1:172322200-172325800	Weak transcription	Fetal Lung	lung
27	chr1:172322400-172324800	Weak transcription	Osteobl	bone
28	chr1:172322400-172325000	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr1:172322400-172325000	Weak transcription	Fetal Kidney	kidney
30	chr1:172322400-172325200	Weak transcription	HMEC	breast
31	chr1:172322400-172325400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr1:172322400-172325800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr1:172322400-172326000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr1:172322400-172326000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr1:172322400-172326400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr1:172322400-172327000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr1:172322400-172327000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr1:172322400-172327000	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr1:172322400-172327600	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr1:172322400-172329600	Weak transcription	Gastric	stomach
41	chr1:172322400-172331000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr1:172322600-172325200	Weak transcription	NHEK	skin
43	chr1:172322600-172325800	Weak transcription	NHLF	lung
44	chr1:172322600-172327800	Weak transcription	Psoas Muscle	Psoas
45	chr1:172322600-172328000	Weak transcription	Fetal Muscle Trunk	muscle
46	chr1:172322800-172324200	Enhancers	HSMMtube	muscle
47	chr1:172323000-172324200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
48	chr1:172323000-172324200	Enhancers	Fetal Muscle Leg	muscle
49	chr1:172323000-172333000	Enhancers	Fetal Intestine Large	intestine
50	chr1:172323200-172326400	Weak transcription	Rectal Mucosa Donor 31	rectum

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