Variant report

Variant	rs72814192
Chromosome Location	chr2:74121278-74121279
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: 3 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs34588812	0.82[ASN][1000 genomes]
rs61306734	0.84[ASN][1000 genomes]

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:36 , 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	chr2:74117200-74121400	Weak transcription	Gastric	stomach
3	chr2:74118200-74123400	Weak transcription	Brain Hippocampus Middle	brain
4	chr2:74118200-74123600	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr2:74118600-74128400	Weak transcription	HMEC	breast
6	chr2:74119400-74124600	Active TSS	Duodenum Smooth Muscle	Duodenum
7	chr2:74119600-74122800	Active TSS	Aorta	Aorta
8	chr2:74119800-74124800	Active TSS	Rectal Mucosa Donor 29	rectum
9	chr2:74120000-74121400	Active TSS	Breast Myoepithelial Primary Cells	Breast
10	chr2:74120000-74122400	Bivalent/Poised TSS	NH-A	brain
11	chr2:74120200-74122200	Active TSS	Duodenum Mucosa	Duodenum
12	chr2:74120200-74122400	Active TSS	Colonic Mucosa	Colon
13	chr2:74120200-74122400	Active TSS	Esophagus	oesophagus
14	chr2:74120200-74122400	Transcr. at gene 5' and 3'	Fetal Stomach	stomach
15	chr2:74120200-74123000	Weak transcription	Fetal Thymus	thymus
16	chr2:74120200-74123200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr2:74120200-74127600	Active TSS	Fetal Intestine Small	intestine
18	chr2:74120200-74130200	Active TSS	Fetal Intestine Large	intestine
19	chr2:74120400-74123600	Weak transcription	Fetal Muscle Leg	muscle
20	chr2:74120400-74123800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr2:74120400-74124200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr2:74120400-74124400	Weak transcription	Stomach Mucosa	stomach
23	chr2:74120400-74128800	Transcr. at gene 5' and 3'	Colon Smooth Muscle	Colon
24	chr2:74120400-74130000	Transcr. at gene 5' and 3'	Stomach Smooth Muscle	stomach
25	chr2:74120600-74121400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr2:74120600-74123600	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr2:74120600-74124000	Weak transcription	Fetal Muscle Trunk	muscle
28	chr2:74120800-74121600	Enhancers	Primary T cells fromperipheralblood	blood
29	chr2:74120800-74121600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
30	chr2:74120800-74122000	Active TSS	NHLF	lung
31	chr2:74120800-74122200	Transcr. at gene 5' and 3'	Rectal Smooth Muscle	rectum
32	chr2:74121000-74121800	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr2:74121000-74122400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr2:74121200-74122000	Enhancers	Primary T cells from cord blood	blood
35	chr2:74121200-74122000	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr2:74121200-74122200	Enhancers	Ovary	ovary

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