Variant report

Variant	rs6966539
Chromosome Location	chr7:104880551-104880552
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:104879596..104881105-chr7:105028497..105031351,2	K562	blood:
2	chr7:104879198..104880930-chr7:104881831..104883810,3	K562	blood:

Variant related genes	Relation type
ENSG00000135250	Chromatin interaction

Extended variants
information (count: 136 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:127)

rs_ID	r²[population]
rs1010340	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10224539	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10267939	0.80[EUR][1000 genomes]
rs10953475	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1135958	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1204061	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12154942	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12155184	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12155351	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12530690	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12532134	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12532188	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12532201	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12532268	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12533264	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12533348	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12534381	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12535043	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12535338	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12536794	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12537196	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12537307	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12538590	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1468359	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1558048	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17270450	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs17342493	0.87[EUR][1000 genomes]
rs17640508	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17640599	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17640644	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17640711	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17707802	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17707878	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17708070	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2040915	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2079340	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2079341	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2299309	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2299327	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2299328	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2385557	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3087867	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs35787127	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3801279	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4406343	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4580973	0.86[EUR][1000 genomes]
rs4605996	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs55671517	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs55712418	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs55949446	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs56132497	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56251298	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56269269	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56281713	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56338352	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs57423264	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs57599523	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs60358227	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6466048	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6466049	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6466050	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6466051	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6466061	0.87[EUR][1000 genomes]
rs66469172	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs66482905	0.88[EUR][1000 genomes]
rs66638610	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs66790006	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs66912872	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs67154126	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs67162771	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs67180946	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs67421818	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs67505443	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs67529088	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs67620169	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs67780803	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs67909511	0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs68113831	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6942483	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6945585	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6949073	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6949830	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6950104	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6952458	0.82[EUR][1000 genomes]
rs6954293	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6954421	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6954692	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6954777	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6954830	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6954844	0.91[EUR][1000 genomes]
rs6955133	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6955753	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6958609	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6963624	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6963661	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6968238	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6968335	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6972563	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6973338	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6973708	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6974780	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6974874	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6974890	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6978954	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6979284	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73186009	0.88[ASN][1000 genomes]
rs73186041	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73186054	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7776832	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7780006	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7782673	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7782827	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7790653	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7794036	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7794285	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7796274	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7796945	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7797988	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7801685	0.86[EUR][1000 genomes]
rs7802168	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7802568	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7802653	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7805639	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7805928	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7808226	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7809329	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7809464	0.81[EUR][1000 genomes];0.80[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:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:104866400-104881000	Weak transcription	GM12878-XiMat	blood
2	chr7:104866400-104881600	Weak transcription	Primary B cells from peripheral blood	blood
3	chr7:104866400-104887200	Weak transcription	Small Intestine	intestine
4	chr7:104866600-104881200	Weak transcription	NHDF-Ad	bronchial
5	chr7:104868400-104885400	Weak transcription	Primary hematopoietic stem cells	blood
6	chr7:104869200-104892000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr7:104869400-104885000	Weak transcription	Fetal Muscle Leg	muscle
8	chr7:104869400-104885000	Weak transcription	Lung	lung
9	chr7:104869400-104885200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr7:104869400-104885600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr7:104869600-104885000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr7:104869600-104885000	Weak transcription	Fetal Intestine Small	intestine
13	chr7:104869600-104885000	Weak transcription	Fetal Muscle Trunk	muscle
14	chr7:104869600-104885000	Weak transcription	Fetal Stomach	stomach
15	chr7:104869600-104886400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr7:104869600-104909200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr7:104870800-104889400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr7:104871000-104885600	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr7:104871000-104885800	Weak transcription	HSMMtube	muscle
20	chr7:104871200-104885600	Weak transcription	HSMM	muscle
21	chr7:104872200-104897200	Weak transcription	Primary T cells from cord blood	blood
22	chr7:104872400-104886000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr7:104872600-104887200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr7:104872600-104889200	Weak transcription	Primary T cells fromperipheralblood	blood
25	chr7:104872800-104886200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr7:104874000-104885600	Weak transcription	K562	blood
27	chr7:104875000-104893800	Genic enhancers	Dnd41	blood
28	chr7:104875600-104885000	Weak transcription	Fetal Thymus	thymus
29	chr7:104876200-104882400	Enhancers	Primary T helper cells PMA-I stimulated	--
30	chr7:104876400-104880600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
31	chr7:104876600-104882200	Enhancers	Brain Cingulate Gyrus	brain
32	chr7:104876800-104882400	Enhancers	Brain Angular Gyrus	brain
33	chr7:104876800-104882400	Enhancers	Colon Smooth Muscle	Colon
34	chr7:104877000-104880800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
35	chr7:104877000-104882400	Enhancers	Brain Inferior Temporal Lobe	brain
36	chr7:104877200-104898400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr7:104877400-104881000	Enhancers	Brain Anterior Caudate	brain
38	chr7:104877400-104881000	Enhancers	Brain Hippocampus Middle	brain
39	chr7:104877600-104887400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr7:104877800-104881400	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr7:104877800-104882200	Enhancers	Brain Substantia Nigra	brain
42	chr7:104878800-104885000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr7:104878800-104886200	Weak transcription	NHEK	skin
44	chr7:104879000-104880600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
45	chr7:104879000-104881400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr7:104879000-104881600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
47	chr7:104879000-104881600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr7:104879000-104881600	Weak transcription	Rectal Smooth Muscle	rectum
49	chr7:104879000-104881800	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr7:104879000-104882200	Weak transcription	Sigmoid Colon	Sigmoid Colon

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