Variant report

Variant	rs13021972
Chromosome Location	chr2:148631232-148631233
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:148621910..148624098-chr2:148629149..148631305,2	MCF-7	breast:
2	chr2:148626522..148628256-chr2:148630223..148632978,2	K562	blood:

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs1014064	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1030317	0.82[AMR][1000 genomes]
rs10497024	0.81[EUR][1000 genomes]
rs10803523	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1128919	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11884013	0.83[AFR][1000 genomes]
rs11889608	0.88[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs11904758	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12053113	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12105745	0.82[AFR][1000 genomes]
rs12464617	0.88[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs12469504	0.86[AFR][1000 genomes]
rs12472058	0.83[AFR][1000 genomes]
rs12475399	0.82[AFR][1000 genomes]
rs12479193	0.83[AFR][1000 genomes]
rs12989087	0.90[AFR][1000 genomes]
rs12990959	0.84[AFR][1000 genomes]
rs12998729	0.82[EUR][1000 genomes]
rs13000597	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13004451	0.89[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs13005423	0.83[AFR][1000 genomes]
rs13008497	0.81[EUR][1000 genomes]
rs13012311	0.82[AMR][1000 genomes]
rs13013867	0.87[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs13014904	0.83[AFR][1000 genomes]
rs13019809	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13025219	0.88[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs13025589	0.87[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs13025701	0.83[AFR][1000 genomes]
rs13026650	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs13028411	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13033589	0.82[AMR][1000 genomes]
rs13033696	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13034494	0.82[EUR][1000 genomes]
rs1345994	0.82[AMR][1000 genomes]
rs1364658	0.81[EUR][1000 genomes]
rs1424944	0.88[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs1424954	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1469210	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1863152	0.83[AFR][1000 genomes]
rs1863153	0.83[AFR][1000 genomes]
rs1895693	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1991169	0.83[AFR][1000 genomes]
rs2059422	0.81[AMR][1000 genomes]
rs2161983	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2303392	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs3768687	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs3768689	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs3820716	0.81[AFR][1000 genomes]
rs4419186	0.90[AFR][1000 genomes]
rs4972272	0.83[AFR][1000 genomes]
rs6430241	0.83[AFR][1000 genomes]
rs6430242	0.82[AFR][1000 genomes]
rs6711673	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6734998	0.83[AFR][1000 genomes]
rs6760703	0.82[AFR][1000 genomes]
rs7559714	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7559925	0.82[EUR][1000 genomes]
rs7600869	0.83[AFR][1000 genomes]
rs929939	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9679427	0.82[AFR][1000 genomes]
rs987122	0.83[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv875275	chr2:148166428-148711242	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv916286	chr2:148438001-148977722	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv529388	chr2:148471340-148934846	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	esv3392562	chr2:148476961-148843061	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv203573	chr2:148631233-148631236	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:148613000-148640800	Weak transcription	Lung	lung
2	chr2:148613200-148631400	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr2:148616800-148636200	Weak transcription	Small Intestine	intestine
4	chr2:148620000-148634000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr2:148620600-148634200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr2:148620800-148640000	Weak transcription	Adipose Nuclei	Adipose
7	chr2:148621200-148633600	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr2:148621400-148633200	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr2:148621400-148637000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr2:148621600-148631400	Weak transcription	Stomach Mucosa	stomach
11	chr2:148621600-148641600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr2:148623600-148642600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr2:148625600-148631800	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr2:148625600-148634200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr2:148625600-148638200	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr2:148625800-148634200	Weak transcription	HSMMtube	muscle
17	chr2:148625800-148638400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr2:148626000-148637000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr2:148626600-148639800	Weak transcription	Left Ventricle	heart
20	chr2:148627000-148631800	Weak transcription	HUVEC	blood vessel
21	chr2:148627200-148632800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr2:148627600-148633200	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr2:148627800-148633000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr2:148628200-148631400	Weak transcription	Fetal Intestine Small	intestine
25	chr2:148628200-148633000	Weak transcription	Rectal Smooth Muscle	rectum
26	chr2:148628200-148633600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr2:148628200-148633600	Weak transcription	Right Ventricle	heart
28	chr2:148628200-148634200	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr2:148628200-148634200	Weak transcription	Psoas Muscle	Psoas
30	chr2:148628200-148636600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr2:148628200-148639800	Weak transcription	Right Atrium	heart
32	chr2:148628400-148633000	Weak transcription	Colon Smooth Muscle	Colon
33	chr2:148628400-148633400	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr2:148628400-148634400	Weak transcription	Brain Angular Gyrus	brain
35	chr2:148629400-148633000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr2:148631000-148631400	Enhancers	Duodenum Mucosa	Duodenum
37	chr2:148631000-148631800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr2:148631000-148633200	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr2:148631200-148631600	Enhancers	Fetal Intestine Large	intestine
40	chr2:148631200-148631800	Enhancers	Breast Myoepithelial Primary Cells	Breast

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