Variant report

Variant	rs60947765
Chromosome Location	chr7:104890832-104890833
allele	C/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: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs2240456	0.81[ASN][1000 genomes]
rs2240462	0.87[ASN][1000 genomes]
rs2240464	0.84[ASN][1000 genomes]
rs2299296	0.81[ASN][1000 genomes]
rs2299302	0.84[ASN][1000 genomes]
rs2299307	0.87[ASN][1000 genomes]
rs2299310	0.81[ASN][1000 genomes]
rs2299317	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2299318	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2299329	1.00[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs28722876	0.93[ASN][1000 genomes]
rs34217930	1.00[AFR][1000 genomes]
rs3735370	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs3735371	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs3779206	1.00[ASN][1000 genomes]
rs3779211	0.87[ASN][1000 genomes]
rs3801280	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs3801286	0.81[ASN][1000 genomes]
rs3801287	0.87[ASN][1000 genomes]
rs56318802	0.81[ASN][1000 genomes]
rs56654846	0.87[ASN][1000 genomes]
rs56666353	0.87[ASN][1000 genomes]
rs56676421	0.87[ASN][1000 genomes]
rs56851478	0.81[ASN][1000 genomes]
rs57212372	1.00[ASN][1000 genomes]
rs57323610	0.87[ASN][1000 genomes]
rs57369490	0.84[ASN][1000 genomes]
rs57492989	0.87[ASN][1000 genomes]
rs58011998	1.00[ASN][1000 genomes]
rs58319797	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs58469240	0.81[ASN][1000 genomes]
rs58550581	1.00[ASN][1000 genomes]
rs58822458	1.00[ASN][1000 genomes]
rs58852948	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs59042853	1.00[ASN][1000 genomes]
rs59290277	0.81[ASN][1000 genomes]
rs59315868	1.00[ASN][1000 genomes]
rs59581221	0.93[ASN][1000 genomes]
rs59602427	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs60101098	1.00[ASN][1000 genomes]
rs60327543	1.00[ASN][1000 genomes]
rs60676837	1.00[ASN][1000 genomes]
rs60714423	0.84[ASN][1000 genomes]
rs60785296	0.88[ASN][1000 genomes]
rs60950478	0.81[ASN][1000 genomes]
rs60968925	1.00[ASN][1000 genomes]
rs61262987	0.87[ASN][1000 genomes]
rs61677699	0.87[ASN][1000 genomes]
rs61705676	0.87[ASN][1000 genomes]
rs73404094	0.87[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	chr7:104879000-104891800	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr7:104879000-104907800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr7:104879600-104897400	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr7:104879800-104896800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr7:104882400-104892400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr7:104885400-104907000	Weak transcription	Fetal Intestine Small	intestine
12	chr7:104886000-104902200	Weak transcription	Lung	lung
13	chr7:104886200-104891400	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr7:104886400-104893200	Weak transcription	Left Ventricle	heart
15	chr7:104886400-104916600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr7:104886600-104892200	Weak transcription	HUVEC	blood vessel
17	chr7:104886600-104895200	Weak transcription	Pancreas	Pancrea
18	chr7:104886600-104896800	Weak transcription	Right Atrium	heart
19	chr7:104886800-104891000	Weak transcription	Fetal Stomach	stomach
20	chr7:104886800-104898000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr7:104887000-104891000	Weak transcription	Fetal Kidney	kidney
22	chr7:104887000-104891800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr7:104887000-104897200	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr7:104887200-104897400	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr7:104887400-104891400	Weak transcription	Brain Germinal Matrix	brain
26	chr7:104887400-104893800	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr7:104887400-104896800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr7:104887600-104891200	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr7:104887600-104891200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr7:104887600-104891800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr7:104887600-104891800	Weak transcription	Fetal Thymus	thymus
32	chr7:104887600-104892000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr7:104887600-104892000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr7:104887600-104897200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr7:104887600-104897200	Weak transcription	HSMM	muscle
36	chr7:104887800-104892600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
37	chr7:104887800-104893400	Weak transcription	Fetal Lung	lung
38	chr7:104887800-104895800	Weak transcription	Thymus	Thymus
39	chr7:104887800-104897200	Weak transcription	K562	blood
40	chr7:104887800-104897400	Weak transcription	Fetal Heart	heart
41	chr7:104888000-104891200	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr7:104888000-104891400	Weak transcription	Psoas Muscle	Psoas
43	chr7:104888000-104891600	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr7:104888000-104891800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr7:104888000-104897400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr7:104888400-104892000	Weak transcription	Primary T helper cells PMA-I stimulated	--
47	chr7:104888800-104892200	Enhancers	Brain Anterior Caudate	brain
48	chr7:104889400-104891400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr7:104889400-104891800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr7:104889400-104892000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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