Variant report

Variant	rs6949830
Chromosome Location	chr7:104821264-104821265
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 132 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:125)

rs_ID	r²[population]
rs1010340	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10224539	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10267939	0.80[EUR][1000 genomes]
rs10953475	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1135958	0.91[EUR][1000 genomes]
rs1204061	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12154942	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12155184	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12155351	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12530690	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12532134	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12532188	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12532201	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12532268	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12533264	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12533348	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12534381	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12535043	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12535338	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12536794	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12537196	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12537307	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12538590	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1468359	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1558048	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17270450	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17342493	0.87[EUR][1000 genomes]
rs17640508	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17640599	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17640644	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17640711	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17707802	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17707878	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17708070	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2040915	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2079340	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2079341	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2299309	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2299327	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2299328	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2385557	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35787127	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3801279	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4406343	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4580973	0.83[EUR][1000 genomes]
rs4605996	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55671517	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55712418	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs55949446	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs56132497	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56251298	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56269269	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56281713	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56338352	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs57423264	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57599523	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs60358227	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6466048	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6466049	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6466050	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6466051	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6466061	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs66469172	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs66482905	0.88[EUR][1000 genomes]
rs66638610	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs66790006	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66912872	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs67154126	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67162771	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67180946	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67421818	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67505443	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67529088	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs67620169	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs67780803	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs67909511	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs68113831	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6942483	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6945585	0.94[EUR][1000 genomes]
rs6949073	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6950104	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6952458	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6954293	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6954421	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6954692	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6954777	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6954830	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6954844	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6955133	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6955753	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6958609	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6959826	0.88[ASN][1000 genomes]
rs6963624	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6963661	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6966539	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6968238	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6968335	0.89[EUR][1000 genomes]
rs6972563	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6973338	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6973708	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6974780	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6974874	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6974890	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6978954	0.89[EUR][1000 genomes]
rs6979284	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73186009	1.00[ASN][1000 genomes]
rs73186041	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73186054	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7776832	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7780006	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7782673	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7782827	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7790653	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7794036	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7794285	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7796274	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7796945	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7797988	0.90[EUR][1000 genomes]
rs7801685	0.86[EUR][1000 genomes]
rs7802168	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7802568	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7802653	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7805639	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7805928	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7808226	0.83[AMR][1000 genomes];0.93[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	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:104753800-104822000	Weak transcription	Small Intestine	intestine
2	chr7:104754400-104850400	Weak transcription	Fetal Kidney	kidney
3	chr7:104782800-104845600	Weak transcription	Spleen	Spleen
4	chr7:104806400-104838200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr7:104806600-104836800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr7:104806600-104842000	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr7:104807600-104829800	Weak transcription	Thymus	Thymus
8	chr7:104808800-104822800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr7:104809000-104836600	Weak transcription	HSMM	muscle
10	chr7:104809000-104838800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr7:104809200-104821800	Weak transcription	A549	lung
12	chr7:104809200-104825600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr7:104809200-104825800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr7:104809400-104821600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr7:104809600-104825800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr7:104809600-104838000	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr7:104809800-104826600	Weak transcription	Primary B cells from cord blood	blood
18	chr7:104809800-104838000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr7:104810200-104840600	Weak transcription	Primary T helper cells fromperipheralblood	blood
20	chr7:104814000-104839800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr7:104814200-104821800	Weak transcription	Gastric	stomach
22	chr7:104814200-104827000	Weak transcription	Pancreas	Pancrea
23	chr7:104815600-104836600	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr7:104818800-104822200	Genic enhancers	Dnd41	blood
25	chr7:104819200-104821600	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr7:104819800-104822800	Strong transcription	Primary T cells from cord blood	blood
27	chr7:104819800-104829400	Weak transcription	Brain Angular Gyrus	brain
28	chr7:104820000-104822800	Weak transcription	NHEK	skin
29	chr7:104820000-104827800	Weak transcription	Stomach Mucosa	stomach
30	chr7:104820400-104822200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr7:104820600-104823000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr7:104820600-104823400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr7:104820800-104824200	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr7:104820800-104833800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr7:104821000-104828400	Weak transcription	Brain Substantia Nigra	brain
36	chr7:104821000-104829200	Weak transcription	Brain Hippocampus Middle	brain
37	chr7:104821000-104829800	Weak transcription	Primary hematopoietic stem cells	blood
38	chr7:104821000-104838400	Weak transcription	Fetal Lung	lung
39	chr7:104821200-104830000	Weak transcription	Fetal Thymus	thymus
40	chr7:104821200-104830400	Weak transcription	Fetal Muscle Trunk	muscle

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