Variant report

Variant	rs4605996
Chromosome Location	chr7:104900257-104900258
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:104890216..104893018-chr7:104897423..104900351,2	K562	blood:

Extended variants
information (count: 139 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:129)

rs_ID	r²[population]
rs1010340	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10224539	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10267939	0.81[EUR][1000 genomes]
rs10953475	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1135958	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1204061	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12154942	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[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	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12530690	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12532134	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12532188	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12532201	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12532268	0.88[AFR][1000 genomes];0.91[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	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12535043	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12535338	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12536794	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12537196	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12537307	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12538590	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1468359	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1558048	0.85[AMR][1000 genomes];0.94[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	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17640599	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17640644	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17640711	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17707802	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17707878	0.87[AFR][1000 genomes];0.91[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[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2079341	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2299309	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2299327	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2299328	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2385557	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3087867	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35787127	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3801279	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4406343	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4580973	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs55671517	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55712418	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs55949446	0.87[AFR][1000 genomes];0.91[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	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56269269	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56281713	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56338352	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs57423264	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57599523	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs60358227	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6466048	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6466049	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6466050	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6466051	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6466061	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs66469172	0.90[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	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66912872	0.84[AFR][1000 genomes];0.91[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	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67180946	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67421818	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67505443	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67529088	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs67620169	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[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	0.83[AMR][1000 genomes];0.90[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	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6949073	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6949830	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6950104	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6952458	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6954293	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6954421	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6954692	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6954777	0.89[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	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6955133	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6955753	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6958609	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6959826	0.88[ASN][1000 genomes]
rs6963624	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6963661	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6966539	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6968238	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6968335	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6972563	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6973338	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6973708	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6974780	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6974874	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6974890	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6977994	0.80[EUR][1000 genomes]
rs6978954	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6979284	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73186009	1.00[ASN][1000 genomes]
rs73186041	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73186054	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7776832	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7780006	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7782673	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7782827	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7790653	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7794036	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7794285	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7796274	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7796945	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7797988	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7801685	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7802168	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7802568	0.86[AFR][1000 genomes];0.89[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	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7808226	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7809329	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7809464	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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
10	nsv888928	chr7:104897964-104944847	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:104869600-104909200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:104879000-104907800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr7:104885400-104907000	Weak transcription	Fetal Intestine Small	intestine
4	chr7:104886000-104902200	Weak transcription	Lung	lung
5	chr7:104886400-104916600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr7:104889600-104902200	Weak transcription	HMEC	breast
7	chr7:104891600-104907800	Weak transcription	Aorta	Aorta
8	chr7:104892200-104906600	Weak transcription	Colon Smooth Muscle	Colon
9	chr7:104896400-104909000	Weak transcription	Pancreas	Pancrea
10	chr7:104896800-104902200	Weak transcription	Gastric	stomach
11	chr7:104897000-104905400	Weak transcription	Fetal Brain Male	brain
12	chr7:104897600-104902200	Weak transcription	Left Ventricle	heart
13	chr7:104897600-104906800	Weak transcription	Right Ventricle	heart
14	chr7:104897600-104907400	Weak transcription	Right Atrium	heart
15	chr7:104897800-104902000	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr7:104898000-104902000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr7:104898000-104902000	Weak transcription	Adipose Nuclei	Adipose
18	chr7:104898000-104902000	Weak transcription	Fetal Heart	heart
19	chr7:104898000-104902000	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr7:104898000-104902000	Weak transcription	A549	lung
21	chr7:104898000-104902200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr7:104898000-104902200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr7:104898000-104902200	Weak transcription	Brain Substantia Nigra	brain
24	chr7:104898000-104902200	Weak transcription	Osteobl	bone
25	chr7:104898000-104902400	Weak transcription	NH-A	brain
26	chr7:104898000-104907200	Weak transcription	Fetal Kidney	kidney
27	chr7:104898200-104901600	Weak transcription	Stomach Mucosa	stomach
28	chr7:104898200-104902200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr7:104898200-104902200	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr7:104898200-104902200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr7:104898200-104902200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr7:104898200-104902200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr7:104898200-104902200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr7:104898200-104902200	Weak transcription	Liver	Liver
35	chr7:104898200-104902200	Weak transcription	Brain Angular Gyrus	brain
36	chr7:104898200-104902200	Weak transcription	Brain Anterior Caudate	brain
37	chr7:104898200-104902200	Weak transcription	Brain Cingulate Gyrus	brain
38	chr7:104898200-104902200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr7:104898200-104902200	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr7:104898200-104902200	Weak transcription	HSMM	muscle
41	chr7:104898200-104902200	Weak transcription	HSMMtube	muscle
42	chr7:104898200-104902200	Weak transcription	NHEK	skin
43	chr7:104898200-104907200	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr7:104898600-104901200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr7:104898600-104901600	Weak transcription	Fetal Muscle Leg	muscle
46	chr7:104898600-104902000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
47	chr7:104898600-104902000	Weak transcription	Primary T helper cells PMA-I stimulated	--
48	chr7:104898600-104902000	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr7:104898600-104902000	Weak transcription	Hela-S3	cervix
50	chr7:104898600-104902000	Weak transcription	K562	blood

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