Variant report

Variant	rs2299325
Chromosome Location	chr7:104890647-104890648
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:104880747..104883616-chr7:104889920..104892326,2	MCF-7	breast:
2	chr7:104890216..104893018-chr7:104897423..104900351,2	K562	blood:
3	chr7:104888158..104889704-chr7:104889723..104891275,2	MCF-7	breast:
4	chr7:104884623..104887492-chr7:104890024..104891908,2	K562	blood:
5	chr7:104890079..104892213-chr7:104894291..104897029,3	K562	blood:

Variant related genes	Relation type
ENSG00000213361	Chromatin interaction

Extended variants
information (count: 92 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:83)

rs_ID	r²[population]
rs10224564	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10228503	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10230128	0.84[EUR][1000 genomes]
rs10230449	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10233695	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10235252	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10240574	0.86[ASN][1000 genomes]
rs10248422	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10248954	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10249170	0.86[EUR][1000 genomes]
rs10252295	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10255779	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10258841	0.86[ASN][1000 genomes]
rs10259721	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10261613	0.84[ASN][1000 genomes]
rs10261738	0.83[ASN][1000 genomes]
rs10261782	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10272634	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10276153	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10280336	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10953473	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11769318	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11769936	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11973742	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11973780	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12537761	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12666949	0.88[EUR][1000 genomes]
rs12669532	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12705305	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13223001	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13237370	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13246886	0.83[ASN][1000 genomes]
rs17721991	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17778396	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1917047	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1978201	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2040913	0.88[EUR][1000 genomes]
rs2237611	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2237615	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2237616	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2237618	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2237619	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2237620	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2286124	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2299312	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2299313	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2299314	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2299316	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2299320	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2299326	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2385542	0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2385556	0.81[AFR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28461911	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28823350	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34003298	0.85[ASN][1000 genomes]
rs34154773	0.86[ASN][1000 genomes]
rs34717863	0.81[AFR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34789097	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35442357	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35973577	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35993922	0.83[ASN][1000 genomes]
rs3735372	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3779208	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3779209	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3801283	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4610671	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4727622	0.80[ASN][1000 genomes]
rs4730078	0.81[AFR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs55796396	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs60446665	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62488069	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6971241	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs717352	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs725506	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73186027	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73188303	0.84[ASN][1000 genomes]
rs73188305	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7808168	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8180735	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8180737	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9641343	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9641347	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9641348	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34588	chr7:104737612-105153242	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	esv2757233	chr7:104758250-105208492	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	esv2759549	chr7:104758250-105208492	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	nsv8196	chr7:104763559-105155978	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	esv34580	chr7:104763580-105153242	Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	esv2758127	chr7:104766707-105110581	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	nsv1028228	chr7:104807207-105182998	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
8	nsv932138	chr7:104826194-105152816	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
9	nsv1015688	chr7:104849770-105182998	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:104869200-104892000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr7:104869600-104909200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr7:104872200-104897200	Weak transcription	Primary T cells from cord blood	blood
4	chr7:104875000-104893800	Genic enhancers	Dnd41	blood
5	chr7:104877200-104898400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr7:104879000-104890800	Weak transcription	Aorta	Aorta
7	chr7:104879000-104891800	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr7:104879000-104907800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr7:104879600-104897400	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr7:104879800-104896800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr7:104882400-104892400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr7:104885400-104907000	Weak transcription	Fetal Intestine Small	intestine
13	chr7:104886000-104902200	Weak transcription	Lung	lung
14	chr7:104886200-104891400	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr7:104886400-104893200	Weak transcription	Left Ventricle	heart
16	chr7:104886400-104916600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr7:104886600-104890800	Weak transcription	Primary B cells from cord blood	blood
18	chr7:104886600-104892200	Weak transcription	HUVEC	blood vessel
19	chr7:104886600-104895200	Weak transcription	Pancreas	Pancrea
20	chr7:104886600-104896800	Weak transcription	Right Atrium	heart
21	chr7:104886800-104891000	Weak transcription	Fetal Stomach	stomach
22	chr7:104886800-104898000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr7:104887000-104891000	Weak transcription	Fetal Kidney	kidney
24	chr7:104887000-104891800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr7:104887000-104897200	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr7:104887200-104897400	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr7:104887400-104891400	Weak transcription	Brain Germinal Matrix	brain
28	chr7:104887400-104893800	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr7:104887400-104896800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr7:104887600-104890800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr7:104887600-104890800	Weak transcription	Colon Smooth Muscle	Colon
32	chr7:104887600-104891200	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr7:104887600-104891200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr7:104887600-104891800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr7:104887600-104891800	Weak transcription	Fetal Thymus	thymus
36	chr7:104887600-104892000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr7:104887600-104892000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr7:104887600-104897200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr7:104887600-104897200	Weak transcription	HSMM	muscle
40	chr7:104887800-104890800	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr7:104887800-104890800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr7:104887800-104892600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr7:104887800-104893400	Weak transcription	Fetal Lung	lung
44	chr7:104887800-104895800	Weak transcription	Thymus	Thymus
45	chr7:104887800-104897200	Weak transcription	K562	blood
46	chr7:104887800-104897400	Weak transcription	Fetal Heart	heart
47	chr7:104888000-104891200	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr7:104888000-104891400	Weak transcription	Psoas Muscle	Psoas
49	chr7:104888000-104891600	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr7:104888000-104891800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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