Variant report

Variant	rs72928954
Chromosome Location	chr2:86001115-86001116
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:85995337..85997377-chr2:86000338..86004148,3	K562	blood:
2	chr18:42806789..42809116-chr2:86000969..86003302,2	MCF-7	breast:
3	chr2:85998096..86001212-chr2:86021812..86025448,3	MCF-7	breast:
4	chr2:85995032..85998218-chr2:85998499..86001360,4	MCF-7	breast:
5	chr2:85998588..86002655-chr2:86008368..86012059,3	MCF-7	breast:

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10205074	1.00[EUR][1000 genomes]
rs13009725	0.90[ASN][1000 genomes]
rs13429794	1.00[EUR][1000 genomes]
rs1370543	1.00[EUR][1000 genomes]
rs1370544	1.00[EUR][1000 genomes]
rs1465821	0.90[ASN][1000 genomes]
rs1518988	1.00[EUR][1000 genomes]
rs2001594	1.00[EUR][1000 genomes]
rs2049016	1.00[EUR][1000 genomes]
rs4832011	0.82[ASN][1000 genomes]
rs56790095	1.00[EUR][1000 genomes]
rs59512984	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60869707	1.00[EUR][1000 genomes]
rs60990198	1.00[EUR][1000 genomes]
rs6707971	1.00[EUR][1000 genomes]
rs6727176	1.00[EUR][1000 genomes]
rs67494720	0.85[ASN][1000 genomes]
rs72928918	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72928927	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72928930	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72928931	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72928938	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72928941	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72928947	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72928948	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72928951	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72930750	1.00[EUR][1000 genomes]
rs72930775	1.00[AMR][1000 genomes]
rs7605132	1.00[EUR][1000 genomes]
rs7608987	1.00[EUR][1000 genomes]
rs934776	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv874468	chr2:85926598-86001255	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv874469	chr2:85973618-86025251	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
3	nsv874470	chr2:85973618-86028257	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
4	nsv874471	chr2:85976645-86021919	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
5	nsv1001792	chr2:85983107-86016722	Genic enhancers Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
6	nsv535805	chr2:85983107-86016722	Weak transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
7	nsv535806	chr2:85990408-86007918	Enhancers Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:85994800-86002200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:85995600-86002200	Enhancers	Liver	Liver
3	chr2:85995800-86001600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr2:85995800-86002000	Enhancers	Fetal Brain Male	brain
5	chr2:85998000-86002000	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr2:85998600-86001400	Enhancers	Sigmoid Colon	Sigmoid Colon
7	chr2:85999000-86002200	Enhancers	Spleen	Spleen
8	chr2:85999000-86002400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
9	chr2:85999200-86001800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr2:85999400-86001600	Enhancers	Colonic Mucosa	Colon
11	chr2:85999400-86003600	Weak transcription	Gastric	stomach
12	chr2:85999800-86002200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
13	chr2:86000000-86001200	Enhancers	Fetal Kidney	kidney
14	chr2:86000000-86001800	Genic enhancers	Fetal Intestine Small	intestine
15	chr2:86000200-86001400	Enhancers	Brain Substantia Nigra	brain
16	chr2:86000200-86001800	Bivalent Enhancer	Placenta	Placenta
17	chr2:86000200-86001800	Enhancers	HepG2	liver
18	chr2:86000200-86002000	Enhancers	Brain Angular Gyrus	brain
19	chr2:86000200-86002000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
20	chr2:86000200-86010400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr2:86000400-86001200	Genic enhancers	Brain Anterior Caudate	brain
22	chr2:86000400-86001200	Enhancers	Brain Cingulate Gyrus	brain
23	chr2:86000400-86001200	Enhancers	Brain Inferior Temporal Lobe	brain
24	chr2:86000400-86001200	Enhancers	Fetal Lung	lung
25	chr2:86000400-86001200	Genic enhancers	Fetal Muscle Leg	muscle
26	chr2:86000400-86001200	Bivalent Enhancer	Fetal Stomach	stomach
27	chr2:86000400-86001200	Enhancers	Left Ventricle	heart
28	chr2:86000400-86001200	Enhancers	Rectal Mucosa Donor 29	rectum
29	chr2:86000400-86001200	Enhancers	NHLF	lung
30	chr2:86000400-86001400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr2:86000400-86001600	Enhancers	Rectal Mucosa Donor 31	rectum
32	chr2:86000400-86001600	Enhancers	HSMMtube	muscle
33	chr2:86000400-86002000	Enhancers	Brain Hippocampus Middle	brain
34	chr2:86000400-86002000	Genic enhancers	Right Ventricle	heart
35	chr2:86000400-86002200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr2:86000400-86002200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr2:86000400-86002200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr2:86000400-86002200	Genic enhancers	A549	lung
39	chr2:86000400-86002200	Enhancers	HUVEC	blood vessel
40	chr2:86000400-86002200	Enhancers	NHDF-Ad	bronchial
41	chr2:86000400-86002400	Enhancers	Ovary	ovary
42	chr2:86000400-86002400	Enhancers	Rectal Smooth Muscle	rectum
43	chr2:86000400-86002600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr2:86000400-86004400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr2:86000400-86006000	Enhancers	Fetal Heart	heart
46	chr2:86000400-86008200	Enhancers	Psoas Muscle	Psoas
47	chr2:86000600-86001200	Enhancers	Fetal Intestine Large	intestine
48	chr2:86000600-86001600	Enhancers	Fetal Brain Female	brain
49	chr2:86000600-86001800	Genic enhancers	Adipose Nuclei	Adipose
50	chr2:86000600-86002000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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