Variant report

Variant	rs72920540
Chromosome Location	chr2:54831102-54831103
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:54822318..54824059-chr2:54829758..54831616,2	MCF-7	breast:
2	chr2:54818759..54820876-chr2:54830874..54833017,2	MCF-7	breast:
3	chr2:54829846..54832829-chr2:54836570..54839601,3	MCF-7	breast:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs17046063	0.89[ASN][1000 genomes]
rs17046066	0.89[ASN][1000 genomes]
rs2271323	0.89[ASN][1000 genomes]
rs2271326	0.89[ASN][1000 genomes]
rs3796016	1.00[ASN][1000 genomes]
rs56695142	1.00[ASN][1000 genomes]
rs57381328	0.84[AFR][1000 genomes]
rs60939675	0.89[ASN][1000 genomes]
rs6705313	0.91[AFR][1000 genomes]
rs72906419	0.85[AFR][1000 genomes]
rs72920550	0.86[AFR][1000 genomes]

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	nsv998277	chr2:54710337-54849648	Genic enhancers Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	esv33638	chr2:54765256-55109455	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54822200-54833800	Genic enhancers	HepG2	liver
2	chr2:54822400-54833600	Enhancers	Psoas Muscle	Psoas
3	chr2:54822400-54833800	Enhancers	Stomach Mucosa	stomach
4	chr2:54822400-54834000	Enhancers	Right Atrium	heart
5	chr2:54822800-54831600	Genic enhancers	A549	lung
6	chr2:54824200-54833600	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr2:54824600-54834400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr2:54824800-54834400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
9	chr2:54824800-54839200	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr2:54826000-54831200	Weak transcription	Primary monocytes fromperipheralblood	blood
11	chr2:54826600-54832000	Genic enhancers	Fetal Intestine Small	intestine
12	chr2:54826800-54834400	Enhancers	Primary T killer memory cells from peripheral blood	blood
13	chr2:54827200-54832200	Enhancers	Stomach Smooth Muscle	stomach
14	chr2:54827200-54833800	Enhancers	Skeletal Muscle Male	skeletal muscle
15	chr2:54827200-54834000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
16	chr2:54827200-54839000	Weak transcription	Hela-S3	cervix
17	chr2:54827400-54832000	Weak transcription	Brain Germinal Matrix	brain
18	chr2:54827400-54832000	Weak transcription	Fetal Brain Female	brain
19	chr2:54827600-54831200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr2:54827600-54831800	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr2:54827600-54832200	Enhancers	Primary T helper cells fromperipheralblood	blood
22	chr2:54827600-54833000	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr2:54827600-54834000	Enhancers	Duodenum Smooth Muscle	Duodenum
24	chr2:54827600-54834000	Enhancers	Right Ventricle	heart
25	chr2:54827600-54834400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr2:54827600-54834400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
27	chr2:54827600-54839200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr2:54827600-54839200	Weak transcription	Dnd41	blood
29	chr2:54827800-54831200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr2:54827800-54834000	Enhancers	Brain Anterior Caudate	brain
31	chr2:54827800-54834000	Enhancers	NHDF-Ad	bronchial
32	chr2:54827800-54835600	Enhancers	Primary T helper naive cells from peripheral blood	blood
33	chr2:54828000-54832000	Enhancers	Brain Substantia Nigra	brain
34	chr2:54828000-54833000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr2:54828000-54833000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr2:54828000-54833200	Enhancers	Small Intestine	intestine
37	chr2:54828000-54833600	Enhancers	Fetal Kidney	kidney
38	chr2:54828000-54834200	Enhancers	Brain Inferior Temporal Lobe	brain
39	chr2:54828200-54831200	Enhancers	Primary neutrophils fromperipheralblood	blood
40	chr2:54828200-54831800	Enhancers	Brain Hippocampus Middle	brain
41	chr2:54828200-54832000	Enhancers	Fetal Muscle Leg	muscle
42	chr2:54828200-54832200	Enhancers	NHLF	lung
43	chr2:54828200-54833200	Enhancers	Duodenum Mucosa	Duodenum
44	chr2:54828200-54833600	Enhancers	Colon Smooth Muscle	Colon
45	chr2:54828200-54833800	Enhancers	Gastric	stomach
46	chr2:54828200-54833800	Enhancers	Spleen	Spleen
47	chr2:54828200-54834000	Enhancers	Left Ventricle	heart
48	chr2:54828200-54834200	Enhancers	Muscle Satellite Cultured Cells	--
49	chr2:54828200-54834200	Enhancers	Brain Cingulate Gyrus	brain
50	chr2:54828200-54834400	Enhancers	Brain Angular Gyrus	brain

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