Variant report

Variant	rs539289686
Chromosome Location	chr2:74121544-74121545
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:74119557..74121562-chr2:74683599..74685996,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000239779	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	nsv582213	chr2:74120785-74129474	Bivalent Enhancer Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:74115000-74123600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr2:74118200-74123400	Weak transcription	Brain Hippocampus Middle	brain
3	chr2:74118200-74123600	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr2:74118600-74128400	Weak transcription	HMEC	breast
5	chr2:74119400-74124600	Active TSS	Duodenum Smooth Muscle	Duodenum
6	chr2:74119600-74122800	Active TSS	Aorta	Aorta
7	chr2:74119800-74124800	Active TSS	Rectal Mucosa Donor 29	rectum
8	chr2:74120000-74122400	Bivalent/Poised TSS	NH-A	brain
9	chr2:74120200-74122200	Active TSS	Duodenum Mucosa	Duodenum
10	chr2:74120200-74122400	Active TSS	Colonic Mucosa	Colon
11	chr2:74120200-74122400	Active TSS	Esophagus	oesophagus
12	chr2:74120200-74122400	Transcr. at gene 5' and 3'	Fetal Stomach	stomach
13	chr2:74120200-74123000	Weak transcription	Fetal Thymus	thymus
14	chr2:74120200-74123200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr2:74120200-74127600	Active TSS	Fetal Intestine Small	intestine
16	chr2:74120200-74130200	Active TSS	Fetal Intestine Large	intestine
17	chr2:74120400-74123600	Weak transcription	Fetal Muscle Leg	muscle
18	chr2:74120400-74123800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr2:74120400-74124200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr2:74120400-74124400	Weak transcription	Stomach Mucosa	stomach
21	chr2:74120400-74128800	Transcr. at gene 5' and 3'	Colon Smooth Muscle	Colon
22	chr2:74120400-74130000	Transcr. at gene 5' and 3'	Stomach Smooth Muscle	stomach
23	chr2:74120600-74123600	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr2:74120600-74124000	Weak transcription	Fetal Muscle Trunk	muscle
25	chr2:74120800-74121600	Enhancers	Primary T cells fromperipheralblood	blood
26	chr2:74120800-74121600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
27	chr2:74120800-74122000	Active TSS	NHLF	lung
28	chr2:74120800-74122200	Transcr. at gene 5' and 3'	Rectal Smooth Muscle	rectum
29	chr2:74121000-74121800	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr2:74121000-74122400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr2:74121200-74122000	Enhancers	Primary T cells from cord blood	blood
32	chr2:74121200-74122000	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr2:74121200-74122200	Enhancers	Ovary	ovary
34	chr2:74121400-74121600	Enhancers	Primary T helper cells PMA-I stimulated	--
35	chr2:74121400-74121600	Enhancers	Gastric	stomach
36	chr2:74121400-74121800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
37	chr2:74121400-74122400	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung

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